REI Week 2025 empowers the future in pediatric research and innovation

Children’s National Hospital hosted its fifteenth annual Research, Education and Innovation Week from March 31–April 4, 2025, bringing together clinicians, scientists, educators and innovators from across the institution to celebrate discovery and collaboration. This year’s theme, “Empowering the Future in Pediatric Research and Innovation with Equity, Technology and a Global Reach,” served as a call to action for advancing science that improves child health both locally and around the world.

Each day of the week-long event featured thought-provoking lectures — now available to watch — dynamic panel discussions, interactive workshops and vibrant poster sessions, all highlighting the diverse and interdisciplinary work taking place across Children’s National.

Centering the patient and the planet

REI Week began on Monday with a powerful keynote lecture from Lynn R. Goldman, MD, MS, MPH, Michael and Lori Milken dean of the Milken Institute School of Public Health at the George Washington University. In her talk, “Children: Uniquely vulnerable to climate-related threats,” Dr. Goldman underscored the urgent need to protect children from the environmental hazards of a changing climate and to integrate climate science into pediatric care and advocacy.

At mid-morning, Mary-Anne “Annie” Hartley, MD, PhD, MPH, director of the LiGHT Laboratory at École Polytechnique Fédérale de Lausanne, introduced the “MOOVE” platform — Massive Open Online Validation and Evaluation of clinical LLMs. Her talk demonstrated how artificial intelligence, when rigorously validated, has the potential to transform clinical decision-making and global health equity.

Monday’s final keynote, “Zinc and childhood diarrhea,” was presented by Christopher Duggan, MD, MPH, director of the Division of Nutrition at Harvard Medical School. Dr. Duggan highlighted the global health impact of zinc supplementation in reducing childhood mortality — a reminder that simple, evidence-based interventions can save millions of lives.

In that first day, the first poster session of the week showcased projects in adolescent medicine, global health, infectious diseases, oncology and more. The session reflected the full breadth of research taking place across Children’s National.

Ambroise Wonkam, MD, PhD, professor of genetic medicine at Johns Hopkins University, then delivered Tuesday’s Global Health Keynote Lecture, “Harnessing our common African genomes to improve health and equity globally.” His work affirmed that inclusive genomics is key to building a healthier world.

Later, the Global Health Initiative event and GCAF Faculty Seminar encouraged attendees to pursue collaborative opportunities at home and abroad, reflecting the growing global footprint of Children’s National research programs.

Transforming education and care delivery

On Wednesday, Larrie Greenberg, MD, professor emeritus of pediatrics, kicked off the day with a Grand Rounds keynote on educational transformation: “Shouldn’t teachers be more collaborative with their learners?” He followed with a CAPE workshop exploring the effectiveness of case-based learning.

The Nursing Sponsored Keynote Lecture by Vincent Guilamo-Ramos, PhD, MPH, LCSW, ANP-BC, PMHNP-BC, FAAN, explored “Redesigning the U.S. broken health system.” He offered an urgent and inspiring call to reimagine pediatric care by addressing social determinants of health.

In the Jill Joseph Grand Rounds Lecture, Deena J. Chisolm, PhD, director of the Center for Child Health Equity at Nationwide Children’s Hospital, challenged attendees to move beyond dialogue into action in her talk, “Health equity: A scream to a whisper?,” reminding researchers and clinicians that advocacy and equity must be foundational to care.

The day continued with a poster session spotlighting medical education, neonatology, urology and neuroscience, among other fields.

Posters and pathways to progress

Throughout the week, poster sessions highlighted cutting-edge work across dozens of pediatric disciplines. These sessions gave attendees the opportunity to engage directly with investigators and reflect on the shared mission of discovery across multiple disciplines, including:

Honoring excellence across Children’s National

The REI Week 2025 Awards Ceremony celebrated outstanding contributions in research, mentorship, education and innovation. The winners in each category were:

POSTER SESSION AWARDS

Basic & Translational Research

Faculty:  Benjamin Liu, PhD

“Genetic Conservation and Diversity of SARS-CoV-2 Envelope Gene Across Variants of Concern”

Faculty:  Steve Hui, PhD
“Brain Metabolites in Neonates of Mothers with COVID-19 Infection During Pregnancy”

Faculty: Raj Shekhar, PhD
“StrepApp: Deep Learning-Based Identification of Group A Streptococcal (GAS) Pharyngitis”

Post docs/Fellows/Residents: Dae-young Kim, PhD
“mhGPT: A Lightweight Domain-Specific Language Model for Mental Health Analysis”

Post docs/Fellows/Residents: Leandros Boukas, MD, PhD
“De Novo Variant Identification From Duo Long-Read Sequencing: Improving Equitable Variant Interpretation for Diverse Family Structures”

Staff: Naseem Maghzian
“Adoptive T Lymphocyte Administration for Chronic Norovirus Treatment in Immunocompromised Hosts (ATLANTIC)”

Graduate Students: Abigail Haffey
“Synergistic Integration of TCR and CAR T Cell Platforms for Enhanced Adoptive Immunotherapy in Brain Tumors”

High School/Undergraduate Students: Medha Pappula
“An ADHD Diagnostic Interface Based on EEG Spectrograms and Deep Learning Techniques”

Clinical Research

Faculty: Folasade Ogunlesi, MD
“Poor Air Quality in Sub-Saharan Africa is Associated with Increase Health Care Utilization for Pain in Sickle Cell   Disease Patients”

Faculty: Ayman Saleh, MD
“Growth Parameters and Treatment Approaches in Pediatric ADHD: Examining Differences Across Race”

Post docs/Fellows/Residents: Nicholas Dimenstein, MD, MPH
“Pre-Exposure Prophylaxis (PrEP) Eligibility in the Pediatric Emergency Department”

Staff: Tayla Smith, MPH
“The Public Health Impact of State-Level Abortion and    Firearm Laws on Health Outcomes”

Graduate Students: Natalie Ewing
“Patterns of Bacteriuria and Antimicrobial Resistance in Patients Presenting for Primary Cloacal Repair: Is Assisted Bladder Emptying Associated with Bacteriuria?”

Graduate Students: Manuela Iglesias, MS
“Exploring the Relationship Between Child Opportunity Index and Bayley-III Scores in Young Children”

High School/Undergraduate Students: Nicholas Lohman
“Preliminary Findings: The Efficacy, Feasibility and Acceptability of Group Videoconference Cognitive Behavioral Therapy with Exposure and Response Prevention for Treating Obsessive-Compulsive Disorder Among Children and Young People”

Community-Based Research

Faculty: Sharon Shih, PhD
“Assessing Pediatric Behavioral Health Access in DC using Secret Shopper Methodology”

Post docs/Fellows/Residents: Georgios Sanidas, MD
“Arrested Neuronal Maturation and Development in the Cerebellum of Preterm Infants”

Staff: Sanam Parwani

“Intersectionality of Gender and Sexuality Diversity in Autistic and Non-Autistic Individuals”

Graduate Student: Margaret Dearey
“Assessing the Burden of Period Poverty for Youth and Adolescents in Washington, DC: A Pilot Study”

Quality and Performance Improvement

Faculty: Nichole L. McCollum, MD
“A Quality Improvement Study to Increase   Nurse Initiated Care from Triage and Improve Timeliness to Care”

Post docs/Fellows/Residents:  Hannah Rodriguez, MD
“Reducing Unnecessary Antibiotic Use in a Level IV NICU”

Staff: Amber K. Shojaie, OTD, OTR/L
“Implementing Dynamic Axilla Splints in a Large Burn Patient”

MENTORSHIP AWARDS

Basic Science Research

Conrad Russell Y. Cruz, MD, PhD

Clinical Research

Rana Hamdy, MD, MPH, MSCE

Bench to Bedside Research

Ioannis Koutroulis, MD, PhD, MBA

ELDA ARCE TEACHING SCHOLAR AWARD

Priti D. Bhansali, MD, MEd

Heather Ann Walsh, PhD, RN

SUZANNE FEETHAM NURSING RESEARCH SUPPORT AWARD

Eileen P. Engh, PhD RN 
“Rare Disease Organization Lifecycle” Role in Helping Parents with Everyday Life Information Seeking and Connection (RDO-HELIX)

EXPLORATIONS IN GLOBAL HEALTH PILOT AWARDS

Launchpad Awards

Mi Ran Shin, MD, MPH
“Establishing Interdisciplinary Rehabilitation for Birth and Burn Injuries in Ethiopia”

Susan Harvey, MSN, CPNP-AC
“Implementation of Sickle Cell Pilot Program in Ndhiwa Sub County, Kenya”

Meleah Boyle, PhD, MPH
“Understanding and Addressing Environmental Sustainability to Protect the Health of the Children’s National and Global Communities”

Eiman Abdulrahman, MD
“Research Capacity Building to Improve Pediatric Emergency and Critical Care in Ethiopia”

Pilot Awards

Alexander Andrews, MD
“EEG as a Diagnostic and Prognostic Marker in Severe Pediatric Malaria, Blantyre Malawi”

Daniel Donoho, MD & Timothy Singer, MD
“Feasibility Study of a Novel Artificial Intelligence-Based Educational Platform to Improve Neurosurgical Operative Skills in Tanzania”

Hasan Syed, MD
“Bridging the Gap an Educational Needs Assessment for Pediatric Neurosurgery Training in Pakistan”

Sofia Perazzo, MD & Lamia Soghier, MD, MEd, MBA
“QI Mentorship to Improve Pediatric Screening and Follow-up in Rural Argentina”

Benjamin Liu, PhD
“AI-Empowered Real-Time Sequencing Assay for Rapid Detection of Schistosomiasis in Senegal”

Rae Mittal, MD
“Assessment and Enhancement of Proficiency in Emergency Child Neurology Topics for Post-Graduate Emergency Medicine Trainees in India”

Innovation Day ignites bold thinking

Thursday, REI Week shifted to the Children’s National Research & Innovation Campus for Innovation Day, a celebration of how bold ideas and collaborative culture can accelerate progress in pediatric medicine.

Brandy Salmon, PhD, associate vice president of Innovation and Partnerships at Virginia Tech, opened the day with “The Alchemy of Innovation,” focusing on how institutions can build a culture that fuels transformative partnerships.

A multidisciplinary panel discussion moderated by Nathan Kuppermann, MD, MPH, and Catherine Bollard, MBChB, MD, featured Nehal Mehta, MD, Julia Finkel, MD, Kevin Cleary, PhD, Ioannis Koutroulis, MD, PhD, MBA, Francesca Joseph, MD and Patrick Hanley, PhD, who shared how innovation can be advanced and promoted, especially as a core institutional priority.

A shared vision for the future

REI Week 2025 reaffirmed the values that define Children’s National: a commitment to excellence, collaboration and equity in pediatric research and care. As discoveries continue to emerge from our hospital and our research campuses, the connections built and ideas sparked during this week will help shape the future of pediatric health — locally and globally.

By elevating voices from the bedside to the bench, with the support of the executive sponsors Nathan Kuppermann, MD, MBChB, Catherine Bollard, MBChB, MD, Kerstin Hildebrandt, MSHS, Linda Talley, MS, RN, NE-BC and David Wessel, MD, REI Week demonstrated that we must embrace the community in all aspects of our work. Because we know that there are answers we can only get from the patients that we serve—and we need to be their voice.

Research, Education & Innovation Week will be back next year on April 13-17, 2026.

  • Posters at the REI Week 2025 Monday, March 31 poster session.

    Posters at the REI Week 2025 Monday, March 31 poster session.
  • Panelists discuss innovation during REI Week 2025.

    Panelists discuss innovation during REI Week 2025.
  • Global Health Initiative community engagement event during REI Week 2025.

    Global Health Initiative community engagement event during REI Week 2025.
  • Chris Rees presents his REI Week 2025 lecture.

    Chris Rees presents his REI Week 2025 lecture.
  • Nathan Kuppermann listens to a presenter during the REI Week 2025 Tuesday, April 1, poster session.

    Nathan Kuppermann listens to a presenter during the REI Week 2025 Tuesday, April 1, poster session.
  • Michelle Riley-Brown, Nathan Kuppermann, Catherine Bollard and Naomi Luban on stage during the REI Week 2025 awards ceremony.

    Michelle Riley-Brown, Nathan Kuppermann, Catherine Bollard and Naomi Luban on stage during the REI Week 2025 awards ceremony.
  • Brandy Salmon presents on innovation programs at Virginia Tech during the REI Week 2025 Innovation Day.

    Brandy Salmon presents on innovation programs at Virginia Tech during the REI Week 2025 Innovation Day.
  • Catherine Bollard listens to a presenter during the REI Week 2025 Monday, March 21 poster session.

    Catherine Bollard listens to a presenter during the REI Week 2025 Monday, March 21 poster session.
  • Ambroise Wonkman poses for a picture with Children’s National staff.

    Ambroise Wonkman poses for a picture with Children’s National staff.
  • Tanzeem Choudhury presenting during REI Week 2025.

    Tanzeem Choudhury presenting during REI Week 2025.

Expanded partnership with Virginia Tech accelerates pediatric cancer research

boy getting eye exam

The new partnership will advance pediatric health through innovative discoveries and therapies, with an initial focus on pediatric cancers, including brain tumors.

Children’s National Hospital and Virginia Tech are expanding their research partnership, building on a successful collaboration established in 2019. This partnership will advance pediatric health through innovative discoveries and therapies, with an initial focus on pediatric cancers, including brain tumors.

The partnership brings together Children’s National, ranked among the nation’s top pediatric hospitals by U.S. News & World Report, and Virginia Tech, a leading academic research institution. Together, they aim to deliver transformative advancements to enhance outcomes for children facing devastating diagnoses.

The goals of the research-focused partnership include:

  • Accelerating the understanding of the biology, improvements in prevention and treatment of pediatric cancers and other childhood diseases.
  • Developing new diagnostic and therapeutic tools to improve care for children.
  • Training the next generation of scientists and physician-scientists.

What they’re saying

  • “Over the years, our partnership with Virginia Tech has demonstrated the power of combining top-tier research expertise with a shared commitment to improving pediatric health,” said Catherine Bollard, MBChB, MD, senior vice president and chief research officer and director of the Center for Cancer and Immunology Research. “This expansion underscores our belief that by working together, we can accelerate discoveries and develop life-changing therapies for children with cancer and other rare diseases.”
  • “Children’s National Hospital has been an important partner for us in biomedical research and innovation,” said Michael Friedlander, PhD, Virginia Tech vice president for health sciences and technology. “Our collaboration deepened with the launch of Children’s National Research & Innovation Campus in Washington, D.C., and now, as our partnership grows even stronger, we’re poised together to take on some of the biggest challenges in cancer research to contribute to the health of children and adults.”
  • “Partnering with Children’s National connects us to a world-class clinical trial institute that has been a pioneer in treating brain tumors with focused ultrasound technology, and this presents a unique opportunity to help children and families struggling with cancer,” said Cheng-Chia “Fred” Wu, MD, PhD, a member of the Children’s National Brain Tumor Research Institute and a principal investigator in cancer research and faculty member at the Fralin Biomedical Research Institute in Roanoke and in the Virginia Tech Carilion School of Medicine.“I can’t wait to see where this takes us.”

Big picture

The initial focus of the collaboration is pediatric cancers, including brain tumors — among the most challenging childhood diagnoses. By combining Virginia Tech’s leading-edge technology and research infrastructure with Children’s National’s expertise in pediatric care, the organizations aim to make significant strides in understanding these diseases.

An interdisciplinary approach is at the heart of the ongoing strategy. The collaboration first began with the launch of a 12,000-square-foot Virginia Tech biomedical research facility within the Children’s National Research & Innovation Campus, which opened in 2020. Located on a 12-acre portion of the former Walter Reed Army Medical Center in Washington, D.C., the campus was the nation’s first innovation hub focused exclusively on pediatric research.

Children’s National delivers on the promise in 2024

Children's National Hospital's 2023-2024 Academic Annual Report on a tablet

The Children’s National 2023-2024 Academic Annual Report show on a tablet.

Children’s National Hospital has released its 2023-2024 Academic Annual Report, showcasing a year of transformative progress in pediatric medicine. The report highlights achievements across its research centers, institutes and Innovation Ventures, underscoring the hospital’s role as a leader in advancing child health through innovation and collaboration.

“This year’s report reflects the remarkable progress we have made in advancing the frontiers of pediatric medicine,” said Nathan Kuppermann, MD, MPH, Chief Academic Officer and Chair of Pediatrics. “It highlights groundbreaking work across our research centers, institutes, and Innovation Ventures, showcasing the collaborative spirit that drives our mission forward. These achievements underscore our shared commitment to delivering transformative research and the best possible outcomes for children and families.”

Delivering across centers

The report captures the contributions of each of Children’s National’s research centers, each pushing the boundaries of pediatric healthcare:

  • Center for Cancer & Immunology Research (CCIR): Delivering on the promise of cell and gene therapies, offering innovative treatments for pediatric cancers and immune disorders.
  • Center for Genetic Medicine Research (CGMR): Advancing pediatric genetic medicine through interdisciplinary efforts, addressing complex genetic conditions with cutting-edge science.
  • Center for Neuroscience Research (CNR): A year of growth in scientific excellence, advancing the understanding of brain development and neurological conditions.
  • Center for Prenatal, Neonatal & Maternal Health Research (CPHNMR): Revolutionizing neonatal care with its pioneering infant brain health neuromonitoring program.
  • Center for Translational Research (CTR): Facilitating groundbreaking work by new K awardees and driving translational research to bridge the gap between discovery and clinical care.
  • Sheikh Zayed Institute for Pediatric Surgical Innovation (SZI): Leading the way in advanced research projects in pediatric surgery, pushing technological boundaries to improve outcomes for children worldwide.

Taking the lead in innovation through collaboration

Innovation Ventures at Children’s National is advancing pediatric health security, addressing unique challenges with transformative solutions. Meanwhile, the Children’s National Research & Innovation Campus (CNRIC) continues to thrive as a hub for discovery and collaboration, hosting conferences on topics like artificial intelligence in healthcare, cell and gene therapy, and pediatric epilepsy research.

A vision for the future

The report also highlights Children’s National’s focus on integrating cutting-edge technologies like artificial intelligence into its research and clinical practices, as well as addressing global health challenges such as the effects of climate change on children’s health. These efforts reflect the hospital’s commitment to improving outcomes for children everywhere through innovation, teamwork, and forward-thinking leadership.

The 2023-2024 Academic Annual Report serves as a testament to the dedication and expertise of the Children’s National community, showcasing how collaboration and innovation are shaping the future of pediatric healthcare.

Genomics solves puzzles for patients with rare disease

Drs. Berger and WIlson

Dr. Seth Berger (right) and pediatric resident Dr. Kirkland Wilson.

Most patients with rare diseases still lack answers. Families may undergo years of searching in an often painful diagnostic odyssey.

Research by Seth Berger, M.D., Ph.D., a medical geneticist in our Center for Genetic Medicine Research and Rare Disease Institute, aims to harness technologies to shorten this journey and connect families with help sooner. Dr. Berger often publishes accounts of medical mysteries he has solved.

“It’s truly stunning what genetic sequencing can find. The outcomes can be life-changing. These cases with life-altering diagnoses don’t come along every day, but when they do, they make the hunt to find answers all the more worthwhile,” says Dr. Berger.

James finds a path to health

James, age 15, struggled a lot before a researcher at Children’s National found the needle in the haystack of his genome. Four years ago, he could not walk in a straight line down the sidewalk. Enjoying Halloween trick or treating in fall or a beach hike in summer? Out of the question. His gait had become increasingly unsteady.

Everything changed the day that Dr. Berger took a look at James’ exome — a subset of the genome that can reveal mutations — to help his family find answers. Dr. Berger used advanced biochemical testing, genomic sequencing and AI to sift through the patient’s data. He found the problem: dopa-responsive dystonia, a genetic condition seen in only one out of every 1 million children. In fact, James’ case was even rarer because he had an unusual recessive form.

James and family mountain biking

James (left) rides mountain bikes with his brother, Nicholas, and mom, Shannon.

This discovery led to a cascade of positive events that transformed James’ life for the better. Thankfully, his condition has a known treatment. Laura Tochen, M.D., who directs the hospital’s Movement Disorders Program, started James on carbidopa-levodopa, a drug combination used to treat Parkinson’s disease and other neurological disorders. Within two hours, he showed improvement and his gait was almost normal.

Today, James leads an active life. On vacation last summer, he went rock climbing on real rocks for the first time. He loves mountain biking and running along the Maine coast. “He is very proud of what he can do now,” says his father, Jeff. “We are so thankful for the team that helped get him here.”

Read more stories like this one in the latest issue of Believe magazine.

Children’s National again ranked among the best in the nation by U.S. News & World Report

2024-25 US News BadgesChildren’s National Hospital in Washington, D.C., was ranked as a top hospital in the nation by the U.S. News & World Report 2024-25 Best Children’s Hospitals annual rankings. This marks the eighth straight year Children’s National has made the Honor Roll list. The Honor Roll is a distinction awarded to only 10 children’s hospitals nationwide.

This year, U.S. News ended ordinal rankings on its Honor Roll. Instead of assigning a numerical rank from 1 to 10, all hospitals on the Honor Roll will be recognized as having attained the highest standards of care in the nation.

In addition, Children’s National tied for #1 pediatric hospital in the Mid-Atlantic region, which includes New York, New Jersey, Delaware, Pennsylvania, the District of Columbia, West Virginia and Virginia. It’s also best in the Mid-Atlantic in Neonatology.

For the fourteenth straight year, Children’s National ranked in 10 specialty services. New this year, U.S. News included behavioral health as a service line in the rankings. Since it’s the first year, there are no ordinal rankings for behavioral health, but the Children’s National program was named one of the top 50 programs in the country.

“In my first year here, I witnessed what makes Children’s National so special — our commitment to collaboration, empowering one another, and charting a bold path forward for pediatric care,” said Michelle Riley-Brown, MHA, FACHE, president and chief executive officer of Children’s National. “I’m proud U.S. News again recognized Children’s National as one of the top in the nation and the highest-ranked pediatric hospital in D.C., Maryland and Virginia. Together, we’ll continue to push the boundaries of care, research and innovation to make a difference for those who matter most — the kids.”

The annual rankings are the most comprehensive source of quality-related information on U.S. pediatric hospitals and recognizes the nation’s top 50 pediatric hospitals based on a scoring system developed by U.S. News.

“For nearly two decades, U.S. News has published Best Children’s Hospitals to empower the parents and caregivers of children with complex medical needs,” said Ben Harder, chief of health analysis and managing editor at U.S. News. “Children’s hospitals appearing on the U.S. News Honor Roll have a track record of delivering unparalleled specialized care.”

The bulk of the score for each specialty service is based on quality and outcomes data. The process includes a survey of relevant specialists across the country, who are asked to list hospitals they believe provide the best care for patients with the most complex conditions.

The Children’s National specialty services that U.S. News ranked in the top 10 nationally are:

The other four specialties ranked among the top 50 are Behavioral Health, Cardiology and Heart Surgery, Pulmonology and Lung Surgery, and Urology.

New philanthropic support from the United Arab Emirates furthers research breakthroughs and care

Visitors from the UAE at Children's National Hospital.

His Highness Sheikh Mohamed bin Zayed Al Nahyan, President of the United Arab Emirates (right) visited Children’s National in September 2024.

Continuing a 30-year partnership that has yielded 82 U.S. patents and countless medical breakthroughs for kids and their families, the Government of the United Arab Emirates (UAE) has strengthened its transformational commitment to Children’s National Hospital with a new $35 million donation focused on prenatal, neonatal and maternal health.

The announcement of the new gift comes after a recent visit to the hospital by His Highness Sheikh Mohamed bin Zayed Al Nahyan, President of the United Arab Emirates (UAE), who met with Emirati families and patients receiving care at Children’s National Hospital.

The investment is the latest chapter of a longstanding philanthropic partnership between the UAE and Children’s National. Each year, more than 100 Emirati families travel to Children’s National for advanced pediatric care and life-saving treatments.

This latest investment will bolster various strategic health initiatives, including within the hospital’s Center for Prenatal, Neonatal & Maternal Health Research and the Zickler Family Prenatal Pediatrics Institute.

Researchers in the Center for Prenatal, Neonatal & Maternal Health Research are focused on the role of perinatal factors — including maternal stress, anxiety and depression — on the developing brain of the child. Studies also are revealing the impact of congenital anomalies such as heart disease and acquired conditions such as maternal infection with COVID-19 or Zika virus. New approaches to prenatal and postnatal care promise to optimize long-term outcomes of many hospitalized babies.

“Children in the Washington, D.C., area and across the world benefit greatly from the breakthroughs that have emerged from the incredible decades-long partnership between the UAE and Children’s National,” said Michelle Riley-Brown, President and CEO of Children’s National. “I am deeply grateful for the UAE’s most recent gift. The contribution will positively impact children and families and support the teams of researchers and specialists who dedicate their lives to developing innovative medical care.”

Key milestones

The UAE helped to establish the Sheikh Zayed Institute for Pediatric Surgical Innovation at Children’s National in 2009. Today, the Sheikh Zayed Institute (SZI) has grown into a world-class, self-sustaining research center receiving more than 80% of its funding from grants and outside sources.

This platform for invention is advancing autonomous, robotic surgery. The institute’s researchers believe pediatric surgical outcomes will improve if the precision and delicacy of a robot are incorporated into procedures such as gallbladder removal. SZI is also propelling the use of artificial intelligence to improve pediatric medicine and expand health equity. One example is a deep learning algorithm that uses hand-held ultrasounds to detect early signs of rheumatic heart disease, which kills nearly 400,000 people worldwide each year.

“The lives and health of countless children and families in the Washington area, in the UAE and around the world have been transformed by our partnership,” said Yousef Al Otaiba, the UAE Ambassador to the United States. “Our continued support promises even more breakthrough innovations in pediatric medicine.”

The UAE also supported the opening of the Children’s National Research & Innovation Campus through a 2019 commitment. The campus represents the first pediatric innovation hub of its kind, where scientists, inventors, caregivers, patients’ families and health authorities come together to advance pediatric health.

The Children’s National Rare Disease Institute and Center for Genetic Medicine Research are two of the teams housed at the campus. Together, they are pioneering care for children in the Washington region and abroad as an international referral site for rare disorders. Two examples of their research endeavors include: next-generation genomic testing to better understand how differences in genetic material can affect human health and identifying biochemical analytes.

The UAE opened a medical office in Washington, D.C., in 1991. Since then, thousands of Emirati patients have visited Children’s National for life-changing care for conditions such as congenital heart disease, neurological disorders and cancer. The hospital is currently treating 40 Emirati patients.

“Having our child treated at Children’s National means accessing specialized pediatric care from a renowned institution dedicated to children’s health,” said Hamad Alnuaimi, an Emirati father of a Children’s National patient. “It provides us with confidence and reassurance that our son is receiving the best possible medical attention from experts who understand and prioritize the unique needs of children. For the UAE to have a strong relationship with Children’s National signifies a valuable connection that enhances pediatric healthcare in our country. This partnership allows us to benefit from advanced treatments, medical innovations, and expertise that might otherwise be inaccessible. It represents a commitment to improving the health and well-being of children through international collaboration.”

Q&A with Dr. Kuppermann: Collaboration is critical for scientific success

Nathan Kuppermann, M.D., M.P.H., is taking on a pivotal role at Children’s National Hospital as executive vice president, the new chief academic officer (CAO) and chair of Pediatrics to continue growing the institution’s reputation as a world-class research hospital. He brings more than 30 years of clinical experience in pediatric emergency medicine and research to the leadership role, where he will oversee nearly 2,000 active research projects at the Children’s National Research Institute.

Dr. Kuppermann knows that science drives cures and improved outcomes. Early in his career, he received enhanced research training at the Harvard School of Public Health, where he laid the groundwork to become a globally recognized clinical researcher. He has studied when to order CT scans for children with head, abdominal and neck trauma to minimize radiation exposure, how to best manage children with diabetic ketoacidosis, infants with febrile illnesses and other complex questions in pediatric emergency medicine that require a multidisciplinary research approach to improve clinical care.

Dr. Kupperman is thrilled to join the scientific community in the nation’s capital, which he sees as a global city where he can authentically share his culturally rich background. He is the son of Brazilian immigrants — a chemical physicist and an organic chemist — and he married a pediatric endocrinologist whose parents are from Mexico and Germany. They have three daughters, and their youngest was adopted from Guatemala. As a family, they travel extensively, and he cares deeply about global health, having served as associate dean for Global Health at UC Davis.

A high school point guard who still plays basketball, Dr. Kuppermann runs his team’s offense on the court, choreographing the flow of each game to optimize his team’s strengths. The position requires peripheral vision to get the ball to the right player and make everyone look good. He sees parallels with his new role as CAO.

Q: What is your approach to research in pediatric healthcare?

A: Fundamentally, my philosophy around research is that we all need to collaborate. When I started doing my own research, I realized over time that to have big, impactful studies, two things had to happen: First, you need to work with people who have expertise beyond your own. I’m a big believer in team science and bench-to-bedside research, collaborating with people with complementary research skills.

Second, I realized that in pediatric research, you must collaborate in research networks to ensure your sample size has enough patients and patients from diverse populations to have definitive results and generalizable data.

Q: What values will you bring to the new role?

A: Three key elements come to mind. First, I’m a big believer in transparent communication, which is the root of everything good in life, whether it’s with your science, your friendships or your family.

I’m a big believer in team science. We all have certain areas of expertise, but if we want to combine our expertise to impact children and improve their health, we need to work together in teams, bringing together basic science researchers, clinicians, information technology specialists, knowledge-translation specialists and disseminators.

Finally, I am a cheerleader for science. As you develop your own science, you also are responsible for leading the next generation of scientists.  I’ve spent as much time being a scientific mentor as I have working to discover new knowledge through scientific inquiry.

Q: You talk extensively about your family’s international roots and how it drives your work. What is the role of diversity in medicine and how does that guide you?

A: Diversity is fundamental to healthcare. We in the medical community recognize the disparities in the care we deliver, which I’ve studied in my research. Diversity must not only be a research focus, but our teams must be diverse to better investigate — and work to resolve — these inequities of care.

Children’s National is both a hospital that is mindful of its immediate community and an institution that greatly values the diversity of its patients and its staff. It’s also highly ranked in research and cares deeply about global health, all of which are drivers in my work.

When I considered the potential of coming to Children’s National, I thought I might be able to help this already great institution further its mission by serving its immediate community, growing and developing its global health programs, and taking research here from its already great bones and accomplishments to the next level.

Q: What approach do you bring to clinical care?

A:  When I do a research study and enroll patients into a clinical trial, I think about the patient and others the research can impact. I frequently think of a quote by the late Paul Brodeur, a scientific writer who wrote a lot about asbestos, which is very powerful and meaningful to me: “Statistics are humans with the tears wiped away.”

And what it means to me is that we must be mindful as researchers that we’re talking about humans with our research. We’re not just talking about numbers, and we’re not just talking about getting grants and papers. We’re talking about how we can elevate the evidence and translate it to the bedside to improve the lives of humans.

Pilot program improves well-being of families during advanced care planning


Children with life-limiting rare diseases and their caregivers face tremendous stress and anxiety about the heart-breaking decisions before them. A new intervention – designed at Children’s National Hospital to support the palliative needs of these families – improved their spiritual and emotional well-being, according to new research published in the journal, Pediatrics.

Called FACE Rare (FAmily CEntered Pediatric Advance Care Planning Intervention for Rare Diseases), the counseling tools were found to be safe, effective and increased feelings of peace among families in this underserved population.

“Seventy-four percent of the families in that intervention group reported feelings of sadness, yet 100% reported our pilot intervention was a worthwhile experience,” said Maureen Lyon, Ph.D., a clinical psychologist and principal investigator at the Center for Translational Research at Children’s National. “If you’re talking about the possibility that the worst thing in the world would happen to you – that your child might die, and what you would want for them – the families found that our intervention helped. They had a place to process their feelings and consider what would be important to their child.”

The big picture

A rare disease is defined as any condition affecting fewer than 200,000 people in the United States. In pediatrics, these diseases often require constant caregiving and require families to face the cruel reality that the diagnosis may be life-limiting. In such cases, clinical teams often decide that conversations about advanced care planning (ACP) are needed.

The pilot-phase, randomized trial enrolled patients from Children’s National between 2021 and 2023. Research nurses underwent two days of training to be certified in the new intervention. Families assigned to the new approach received three, weekly 60-minute sessions and were evaluated using evidence-based assessment tools, including the Carer Support Needs Assessment Tool/Action Plan and the Next Steps: Respecting Choices Pediatric ACP Conversation. Measures of anxiety and spiritualization were tracked, and families returned after three months for follow-up.

Patients had a range of diagnoses that put tremendous strain on the caregivers, including complex digestive disorders, white-matter diseases and rare forms of epilepsy. Yet the caregivers expressed similar challenges: having time for themselves during the day, knowing what to expect in the future for their child’s care, and managing financial, legal and work issues.

What we found

Reinforcing the need to improve engagement and support for these families, the investigative team found that those who received the FACE Rare intervention reported higher levels of spiritual meaning and peace than those who received “treatment as usual.” All families living below the poverty line reported greater anxiety, and noteworthy to the team, black caregivers were less likely to report caregiver distress than non-black caregivers.

Dr. Lyon said future research needs to understand better how families respond to the challenges of rare diseases and unique social determinants of health that can change the approach to care.

“In some cultures, and families, having strong feelings is discouraged,” Dr. Lyon said. “We want to give families and caregivers space to have these emotions and think about what would be important for their child, if the worst were to happen. They appreciated that they participated in the program and had the space to consider these difficult questions.”

Read the full study, “Advance Care Planning for Children with Rare Diseases: A Pilot RCT,” in Pediatrics.

Next-generation genomics testing holds key to undiagnosed rare disease

Before and after pictures of the patient's improved gaitSeth Berger, M.D., Ph.D., felt the pull to dig deeper when he started reading the chart. An 11-year-old boy had an abnormal gait and couldn’t even walk in a straight line down the sidewalk to go trick-or-treating. Yet workups with neurology, orthopedics and an exome analysis of the patient’s genetic code did not provide a diagnosis. He had been getting worse for roughly three years.

With one of the largest clinical genetics departments in the country, Children’s National Hospital receives more than 10,000 visits a year from patients like this middle schooler. Often, they are children and caregivers who are searching for answers and follow-up support for diagnoses of genetic disorders, which impact so few people that only highly trained geneticists and genetic counselors can get to the root of the disorder.

“In genetics, we are finding layers of understanding. A negative clinical test is not always the final answer because the significance of variants can often be missed or misunderstood,” said Dr. Berger, a medical geneticist and principal investigator in the Center for Genetics Medicine Research at Children’s National. “It can take extensive research and a deep knowledge of the limits of certain tests to reach a diagnosis.”

The fine print

On page 4 of the patient’s genetics report, Dr. Berger found a reference to a pair of variants with no known clinical impact. Dr. Berger recognized that the genes referenced could affect proteins that drive potentially treatable neurological outcomes.

Dr. Berger ordered further testing, including biochemical testing of the patient’s blood and a phenylalanine loading challenge, a test that measures how the body metabolizes certain amino acids. With the results, he confirmed a recessive GCH1 deficiency in the patient was causing a condition called DOPA-responsive dystonia, a disorder that causes involuntary muscle contractions, tremors and uncontrolled movements. Laura Schiffman Tochen, M.D., director of the Movement Disorders Program at Children’s National, started the patient on levodopa-carbidopa — a drug combination used to treat Parkinson’s disease and other neurological disorders — and within two hours the boy showed improvement. His gait was almost normal.

Why we’re excited

Dr. Berger presents at conferences on this case and several other medical mysteries that he’s recently solved in his clinical practice and his role at the Pediatric Mendelian Genomics Research Center, a Children’s National program immersed in a federally funded research study to better understand how differences in genetic material can affect human health. As part of his work, he’s joined the GREGoR project (Genomic Research to Elucidate the Genetics of Rare Disease), which hopes to increase the number of genetic disorders where a cause can be identified. The elite genetics consortium includes nationally recognized research centers – the University of California at Irvine, Broad Institute, University of Washington, Baylor University, Stanford University, Invitae and Children’s National – which are working together to harness cutting-edge genomics sequencing capabilities. They hope to enroll thousands in their research, funded by the National Institutes of Health.

“It’s truly stunning what genetic sequencing can find. The outcomes can be life-changing,” said Dr. Berger. “These cases with life-altering diagnoses don’t come along every day, but when they do, they make the hunt to find answers all the more worthwhile.”

Driving pediatric breakthroughs through 2023

desktop computer showing the CNRI Annual ReportThe Children’s National Research Institute released its 2022-2023 Academic Annual Report. In the report, a summary of the past academic year highlights the accomplishments of each of the institute’s research centers, provides research funding figures and exalts some of the institute’s biggest milestones.

The stories in the report are a testament to the hard work and dedication of everyone at the Children’s National Research Institute.

We celebrated five decades of leadership and mentorship of Naomi Luban, M.D., and her incredible accomplishments in the W@TCH program, which have been instrumental in shaping the future of pediatric research.

We also celebrated innovation, highlighting our recent FDA award to lead a pediatric device consortium, which recognizes our commitment to developing innovative medical devices that improve the lives of children.

Breakthroughs at the Research & Innovation Campus continued as our researchers worked tirelessly to develop new treatments and therapies that will transform the lives of children and families around the world.

Taking a look at the breakthroughs happening in our now six research centers, we spotlighted the following stories:

  • Reflecting on decades of progress in the blood, marrow and cell therapy programs at Children’s National. Our researchers have made significant strides in this field, and we are proud to be at the forefront of these life-saving treatments.
  • In genetic medicine, we continue to be a beacon of hope for families facing rare and complex conditions. Our researchers are making incredible breakthroughs that are changing the landscape of pediatric medicine.
  • We are also proud to share the $90 million award received from an anonymous donor to support pediatric brain tumor research. The predominant focus of this award is to develop new treatments that will improve outcomes for children with this devastating disease.
  • This year, we opened a new Center that enhances our research capabilities in the field of Prenatal, Neonatal & Maternal Health Research. We are excited about the possibilities this new center will bring and look forward to the discoveries that will emerge from it.
  • In addition, we are driving future pandemic readiness with the NIH funded Pediatric Pandemic Network. Our researchers are using cutting-edge technology and innovative approaches to prepare for the next pandemic and protect children.
  • We are also exploring the potential of artificial intelligence (AI) in pediatric breakthroughs. Our researchers are using machine learning and other AI techniques to develop new treatments and therapies that will transform the lives of children.

M.D. in your pocket: New platform allows rare disease patients to carry medical advice everywhere

When someone has a rare disease, a trip to the emergency room can be a daunting experience: Patients and their caregivers must share the particulars of their illness or injury, with the added burden of downloading a non-specialist on the details of a rare diagnosis that may change treatment decisions.

Innovators at Children’s National Hospital and Vanderbilt University Medical Center, supported by Takeda, are trying to simplify that experience using a new web-based platform called the Rare Disease Clinical Activity Protocols, or Rare-CAP. This revolutionary collection of medical information allows patients to carry the latest research-based guidance about their rare disorders in their phones, providing a simple QR code that can open a trove of considerations for any medical provider to evaluate as they work through treatment options for someone with an underlying rare disease.

“No one should worry about what happens when they need medical help, especially patients with rare diseases,” said Debra Regier, M.D., division chief of Genetics and Metabolism at Children’s National and Rare-CAP’s lead medical advisor. “We built this new tool because I have watched as my patient-families have wound up in an emergency room — after all, kids get sprains or fractures — but they don’t have the expertise of a rare disease specialist with them. My hope is that they’re going to pull out their phones and access Rare-CAP, which will explain their rare disease to a new provider who can provide more thoughtful and meaningful care.”

The big picture

A rare disease is defined as any disorder that affects less than 200,000 people in the United States. Some 30 million Americans are believed to be living with one of the 7,000 known rare disorders tracked by the National Organization of Rare Diseases (NORD). Led by Dr. Regier, the Rare Disease Institute at Children’s National is one of 40 NORD centers for excellence in the country that provide care, guidance and leadership for the wide array of disorders that make up the rare disease community.

While a key goal of Rare-CAP is to bolster patient self-advocacy, the platform will also allow medical providers to proactively search for protocols on rare diseases when they know they need specialized advice from experts at Children’s National, a network of tertiary care centers and patient organizations.

As a leading values-based, R&D-driven biopharmaceutical company, Takeda has committed $3.85 million to the project to help activate meaningful change and empower a brighter future for rare disease communities, providing a unique understanding of the struggle that patients and caregivers face when they need care.

“Our team, alongside the medical and rare disease community, saw the need for a single portal to collect standardized care protocols, and we are thrilled to see this innovative tool come to life,” said Tom Koutsavlis, M.D., head of U.S. Medical Affairs at Takeda. “People with rare diseases and their caregivers need faster access to authoritative medical information that providers anywhere can act on, this will lead to improving the standard of care, accelerating time to diagnosis and breaking down barriers to increase equitable access.”

The patient benefit

The creators of Rare-CAP imagined its use in a wide range of settings, including emergency rooms, surgical suites, dental offices, urgent care offices and school clinics. The platform will eventually profile thousands of rare diseases and lay out the implications for care, while also creating a dynamic conversation among users who can offer updates based on real-world experience and changes in medical guidance.

“Our patients are unique, and so is this tool,” Dr. Regier said. “As we roll out Rare-CAP, we believe it is just the beginning of the conversation to expand the platform and see its power for the patient and provider grow, with each entry and each new rare disease that’s added to the conversation.”

New research: Genes that drive testicular cancer identified

In the largest sequencing study to date on testicular cancer, researchers at Children’s National Hospital have identified genes that contribute to testicular germ cell tumors (TGCT), the most common cancer among young, white men.

The findings, published in European Urology, provide direction for future screening and treatment of this disease, which can strike during the teen years and often runs in families. While treatable when identified early, testicular cancer leads to infertility, mental health issues and sometimes death, making its identification crucial for young adults.

“Testicular cancer is really a young person’s disease,” said Louisa Pyle, M.D., Ph.D. , a pediatrician, medical geneticist and research geneticist at the Children’s National Rare Disease Institute. “Most folks who have testicular cancer are between the ages of 15 and 45. Even though testicular cancer is relatively rare in the cancer world, it results in the greatest number of years lost among all adult cancers.”

What we hope to discover

Dr. Pyle led a research team that included experts at the National Cancer Institute and the University of Pennsylvania to study families with multiple members diagnosed with testicular cancer. They used whole exome sequencing to identify variants in many genes that predisposed patients to TGCT. Their work suggests that multiple variants – inherited together – increased the risk for the disease and provides potential routes for drugs that could be used for prevention and treatment.

“We found many genes that help us understand how testicular cancer happens,” Dr. Pyle said. “Our hope is that we can use that to try to come up with better treatments or better ways to preserve fertility for people with testicular cancer or gonadal differences.”

The patient benefit

Testicular cancer most often strikes men of European ancestry. It is also more common among intersex patients and those with differences in sex development, which is a clinical and research focus for Dr. Pyle. Medically, these are children who have a change in the biological characteristics of sex, including their chromosomes, hormones, gonads or physical body parts.

By studying a more common version of testicular cancer, the team learned about the underlying genetics in a way that will benefit intersex patients.

“One of the things we do in medicine is study a common version of the rare thing,” Dr. Pyle said.  “Through this research, we learned that the same genes that cause intersex traits in some patients are also changed in subtle ways for people with testicular cancer. This is a way to study something that could improve care for those kids, by studying a group that has greater numbers.”

Research campus joins Global Network of Innovation Districts

Children’s National Research & Innovation Campus

At the RIC’s 12-acre campus in Northwest Washington, D.C., experts from Children’s National work alongside public and private partners in industry, universities, federal agencies, start-up companies and academic medical centers to find solutions to some of science’s most vexing challenges.

The Children’s National Research & Innovation Campus (RIC) has become the first science ecosystem dedicated to pediatric health to join a network of over three dozen innovation districts worldwide that integrate research space with sustainable communities to create models for urban work and living.

Known as the Global Network of Innovation Districts (GNID), the community was conceived to unlock the design of campuses like the RIC to create collaborations among highly trained professionals. At the RIC’s 12-acre campus in Northwest Washington, D.C., experts from Children’s National work alongside public and private partners in industry, universities, federal agencies, start-up companies and academic medical centers to find solutions to some of science’s most vexing challenges. The campus is surrounded by mass transit, open spaces, retail and housing, and it’s built on deep historic roots in the city as the former home of the Walter Reed Army Medical Center.

Kerstin Hildebrandt, vice president of research administration at the Children’s National Research Institute, said the team at the Research & Innovation Campus is excited to maximize its potential by joining this global network of economic drivers that are enhancing their communities and cities.

“We look forward to sharing our best practices, and we want to learn about how our national and international colleagues are tackling complex issues,” she said. “For example, we can learn how others are leveraging their assets to improve their communities and their response to health crises, climate change and other significant challenges.”

The GNID was launched in March of last year by The Global Institute on Innovation Districts (GIID), an international nonprofit focused on the advancement of innovation districts. With an initial group of 23 districts. GIID is now expanding the network to include approximately 20 additional districts that extend across Europe, North America, Latin America, Australia and Asia.

GIID’s Founder Julie Wagner said innovation districts have become a worldwide phenomenon. She said their leaders are recognizing that working and collaborating with their peers — from Melbourne to Medellin — is a powerful strategy to help these complex geographies leverage their assets in new ways.

“We are finding that innovation districts are willing to execute impactful strategies after holding highly curated exchanges with their peers,” Wagner said. “These are the places armed to solve some of the world’s most vexing challenges. From where I sit, we all need to give them as many tools as possible to help them get there.”

Marshall Summar, M.D., receives Lifetime Achievement Award for rare disease work

Marshall Summar

For making strides to improve the lives of the rare disease community, the National Organization for Rare Disorders (NORD®) recognized Marshall Summar, M.D., with a Lifetime Achievement Award.

For making strides to improve the lives of the rare disease community, the National Organization for Rare Disorders (NORD®) recognized Marshall Summar, M.D., chief of the Division of Genetics and Metabolism and the director of the Rare Disease Institute at Children’s National Hospital, with a Lifetime Achievement Award.

This award honors individuals for outstanding career-long achievement on behalf of the rare disease community and commitment to improving the lives of those affected by rare diseases. It has been presented only a few times over NORD’s nearly 40-year history, most recently to former NIH Director Francis Collins, M.D., Ph.D., in 2015 and to clinician and researcher Robert Campbell, M.D., of Children’s Hospital of Philadelphia in 2018.

“I am honored to receive this award from NORD. It is so special to be recognized by the leading rare disease organization. This award comes from the work of so many people over the years, particularly our great team at Children’s National,” said Dr. Summar. “This acknowledgement of what we have done to date just gets me more excited about the future!”

Dr. Summar developed and launched the world’s first Rare Disease Institute at Children’s National in 2017, which is now located on the Children’s National Research & Innovation Campus, a first-of-its-kind pediatric research and innovation hub in Washington, D.C.

The institute, which includes the largest clinical group of pediatric geneticists in the nation, focuses on developing the clinical care field of the more than 8,000 rare diseases currently recognized and advancing the best possible treatments for children with these diseases.

Marshall and Karen Summar

Marshall and Karen Summar.

“Dr. Summar’s passion for serving patients is at the core of everything he does,” said Debra Regier, M.D., medical director of the Rare Disease Institute. “His mentorship for the next generation of medical and biochemical geneticists has become his legacy.”

The work Dr. Summar has done over the course of his career has resulted in new drugs in FDA trials for patients with congenital heart disease and premature birth. He also holds more than 60 patents and has published more than 160 peer-reviewed research studies.

“Beginning with his work as a clinician in the 1980s, Dr. Marshall Summar has spent a career forging partnerships, advocating at the highest level and developing new ways to treat rare disease patients,” said Peter L. Saltonstall, president and CEO of NORD.

“Dr. Summar served on the NORD Board of Directors for nine years, including six years as Chairman, and so we at NORD have been lucky enough to have years of firsthand experience with his leadership, community-building and innovation efforts in the rare disease field. This award is a recognition and appreciation for sustained excellence, including critical work with organizations such as the American College of Medical Genetics, the National Institutes of Health, NORD, and the Rare Disease Institute at Children’s National. For decades of commitment to families and organizations combating rare diseases, NORD is thrilled to present the Lifetime Achievement Award to Dr. Marshall Summar at the 2022 Rare Impact Awards,” Saltonstall added.

Learn more about the Rare Disease Institute at Children’s National.

Children’s National Rare Disease Institute named a Center of Excellence

Rare Diseases Institute sign

RDI, which includes the largest clinical group of pediatric geneticists in the nation, focuses on developing the clinical care field of more than 8,000 rare diseases currently recognized and advancing the best possible treatments for children with these diseases.

The Rare Disease Institute (RDI) at Children’s National Hospital announced its designation as a NORD Rare Disease Center of Excellence, joining a highly select group of 31 medical centers nationwide. This new, innovative network seeks to expand access and advance care and research for rare disease patients in the United States. The program is being led by the National Organization for Rare Disorders (NORD), with a goal to foster knowledge sharing between experts across the country, connect patients to appropriate specialists regardless of disease or geography, and to improve the pace of progress in rare disease diagnosis, treatment and research.

“Children’s National has worked closely with NORD to move this program forward and is very proud to be amongst the first group of recognized centers,” said Marshall Summar, M.D., chief of the Division of Genetics and Metabolism and the director of RDI at Children’s National. “This is a recognition of the institutional efforts, as we take care of patients with the rare disease and help set the standard for the field.”

RDI, which includes the largest clinical group of pediatric geneticists in the nation, focuses on developing the clinical care field of more than 8,000 rare diseases currently recognized and advancing the best possible treatments for children with these diseases.

In February 2021, RDI became the first occupant of the new Children’s National Research & Innovation Campus, a first-of-its-kind pediatric research and innovation hub. The campus now also houses the Center for Genetic Medicine Research, and together researchers are constantly pursuing high-impact opportunities in pediatric genomic and precision medicine. Both centers combine its strengths with public and private partners, including industry, universities, federal agencies, start-up companies and academic medical centers. They also serve as an international referral site for rare disorders.

People living with rare diseases frequently face many challenges in finding a diagnosis and quality clinical care. In establishing the Centers of Excellence program, NORD has designated clinical centers across the U.S. that provide exceptional rare disease care and have demonstrated a deep commitment to serving rare disease patients and their families using a holistic, state of the art approach.

“Right now, far too many rare diseases are without an established standard of care. The Centers of Excellence program will help set that standard – for patients, clinicians, and medical centers alike,” said Ed Neilan, chief scientific and medical officer of NORD. “We are proud to announce Children’s National as a NORD Rare Disease Center of Excellence and look forward to their many further contributions as we collectively seek to improve health equity, care and research to support all individuals with rare diseases.”

Each center was selected by NORD in a competitive application process requiring evidence of staffing with experts across multiple specialties to meet the needs of rare disease patients and significant contributions to rare disease patient education, physician training and research.

Machine learning tool detects the risk of genetic syndromes

control population and population with Williams-Beuren syndrome.

(A) Control population. (B) Population with Williams-Beuren syndrome. Average faces were generated for each demographic group after automatic face pose correction.

With an average accuracy of 88%, a deep learning technology offers rapid genetic screening that could accelerate the diagnosis of genetic syndromes, recommending further investigation or referral to a specialist in seconds, according to a study published in The Lancet Digital Health. Trained with data from 2,800 pediatric patients from 28 countries, the technology also considers the face variability related to sex, age, racial and ethnic background, according to the study led by Children’s National Hospital researchers.

“We built a software device to increase access to care and a machine learning technology to identify the disease patterns not immediately obvious to the human eye or intuition, and to help physicians non-specialized in genetics,” said Marius George Linguraru, D.Phil., M.A., M.Sc., principal investigator in the Sheikh Zayed Institute for Pediatric Surgical Innovation at Children’s National Hospital and senior author of the study. “This technological innovation can help children without access to specialized clinics, which are unavailable in most of the world. Ultimately, it can help reduce health inequality in under-resourced societies.”

This machine learning technology indicates the presence of a genetic syndrome from a facial photograph captured at the point-of-care, such as in pediatrician offices, maternity wards and general practitioner clinics.

“Unlike other technologies, the strength of this program is distinguishing ‘normal’ from ‘not-normal,’ which makes it an effective screening tool in the hands of community caregivers,” said Marshall L. Summar, M.D., director of the Rare Disease Institute at Children’s National. “This can substantially accelerate the time to diagnosis by providing a robust indicator for patients that need further workup. This first step is often the greatest barrier to moving towards a diagnosis. Once a patient is in the workup system, then the likelihood of diagnosis (by many means) is significantly increased.”

Every year, millions of children are born with genetic disorders — including Down syndrome, a condition in which a child is born with an extra copy of their 21st chromosome causing developmental delays and disabilities, Williams-Beuren syndrome, a rare multisystem condition caused by a submicroscopic deletion from a region of chromosome 7, and Noonan syndrome, a genetic disorder caused by a faulty gene that prevents normal development in various parts of the body.

Most children with genetic syndromes live in regions with limited resources and access to genetic services. The genetic screening may come with a hefty price tag. There are also insufficient specialists to help identify genetic syndromes early in life when preventive care can save lives, especially in areas of low income, limited resources and isolated communities.

“The presented technology can assist pediatricians, neonatologists and family physicians in the routine or remote evaluation of pediatric patients, especially in areas with limited access to specialized care,” said Porras et al. “Our technology may be a step forward for the democratization of health resources for genetic screening.”

The researchers trained the technology using 2,800 retrospective facial photographs of children, with or without a genetic syndrome, from 28 countries, such as Argentina, Australia, Brazil, China, France, Morocco, Nigeria, Paraguay, Thailand and the U.S. The deep learning architecture was designed to account for the normal variations in the face appearance among populations from diverse demographic groups.

“Facial appearance is influenced by the race and ethnicity of the patients. The large variety of conditions and the diversity of populations are impacting the early identification of these conditions due to the lack of data that can serve as a point of reference,” said Linguraru. “Racial and ethnic disparities still exist in genetic syndrome survival even in some of the most common and best-studied conditions.”

Like all machine learning tools, they are trained with the available dataset. The researchers expect that as more data from underrepresented groups becomes available, they will adapt the model to localize phenotypical variations within more specific demographic groups.

In addition to being an accessible tool that could be used in telehealth services to assess genetic risk, there are other potentials for this technology.

“I am also excited about the potential of the technology in newborn screening,” said Linguraru. “There are approximately 140 million newborns every year worldwide of which eight million are born with a serious birth defect of genetic or partially genetic origin, many of which are discovered late.”

Children’s National as well recently announced that it has entered into a licensing agreement with MGeneRx Inc. for its patented pediatric medical device technology. MGeneRx is a spinoff from BreakThrough BioAssets LLC, a life sciences technology operating company focused on accelerating and commercializing new innovations, such as this technology, with an emphasis on positive social impact.

“The social impact of this technology cannot be underestimated,” said Nasser Hassan, acting chief executive officer of MGeneRx Inc. “We are excited about this licensing agreement with Children’s National Hospital and the opportunity to enhance this technology and expand its application to populations where precision medicine and the earliest possible interventions are sorely needed in order to save and improve children’s lives.”