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telemedicine

Children’s National Hospital technology recognized

telemedicine

Being designated with this recognition recognizes that Children’s National has deployed technologies and strategies to help analyze its data and is starting to achieve meaningful clinical and efficiency outcomes. It’s also experimenting with more advanced technologies, like telehealth, that expand access to care.

Children’s National Hospital received the 2021 Digital Health Most Wired recognition by The College of Healthcare Information Management Executives (CHIME) as a certified ambulatory level nine and acute level eight. The CHIME Digital Health Most Wired program conducts an annual survey to assess how effectively health care organizations apply core and advanced technologies into their clinical and business programs to improve health and care in their communities.

“Children’s National is honored to again receive the Most Wired distinction for our inpatient and ambulatory venues,” said Matt MacVey, chief information officer at Children’s National. “We are particularly excited to see our ongoing consumer digital experience investments propel us to a level 9 in ambulatory.”

Being designated with this recognition recognizes that Children’s National has deployed technologies and strategies to help analyze its data and is starting to achieve meaningful clinical and efficiency outcomes. It’s also experimenting with more advanced technologies, like telehealth, that expand access to care.

“Digital transformation in health care has accelerated to an unprecedented level since 2020, and the next few years will bring a wave of innovation that empowers health care consumers and will astound the industry,” said CHIME President and CEO Russell P. Branzell. “The Digital Health Most Wired program recognizes the outstanding digital leaders who have paved the way for this imminent revolution in health care. Their trailblazing commitment to rapid transformation has set an example for the entire industry in how to pursue a leadership vision with determination, brilliant planning and courage to overcome all challenges.”

A total of 36,674 organizations were represented in the 2021 Digital Health Most Wired program, which includes four separate surveys: acute, ambulatory, long-term care and international acute. The surveys assessed the adoption, integration and impact of technologies in healthcare organizations at all stages of development, from early development to industry leading.

This is the fourth year that CHIME has conducted the survey and overseen the program. In each successive year, CHIME has expanded the survey to capture more types of organizations that serve patients across the continuum of care. CHIME also continues to promote the program internationally to provide a global overview of digital health advancements.

“We are committed to investing in technology that helps us bring safe, high quality care to children,” said Jessica Herstek, M.D., chief medical informatics officer at Children’s National. “We are honored by the ‘Most Wired’ distinction and remain focused on our vision to help children grow up stronger.”

Yuan Zhu

Yuan Zhu, Ph.D., receives Outstanding Scientist Award

Yuan Zhu

The George Washington University (GW) Cancer Center recently announced the selection of the 2021 GW Cancer Center Awards, recognizing excellence in research, mentorship and early career contributions.

The GW Cancer Center Outstanding Scientist Award was presented to Yuan Zhu, Ph.D., professor of pediatrics at the GW School of Medicine and Health Sciences (SMHS) and Children’s National Hospital. The award is presented to faculty members who make a noteworthy contribution in the areas of basic science, clinical science, translational science or population science.

In his nomination, Dr. Zhu was cited for his contributions to the understanding of the mechanisms underlying the development of tumors and altered brain development arising in the setting of the inherited condition neurofibromatosis type 1 (NF1). “Throughout his career, Dr. Zhu has had a remarkable consistency of focus in his scholarly work, where he has sought to advance new molecular and mechanistic insights to understand the biological basis of NF1 and the cancers arising in individuals affected by this genetic disease.”

You can find a full list of award winners here.

Charles Berul receives award

Charles Berul, M.D., named Pioneer in Cardiac Pacing and Electrophysiology by Heart Rhythm Society

Charles Berul receives award

Dr. Berul receives the Pioneer in Cardiac Pacing and Electrophysiology from the Heart Rhythm Society at their 2021 meeting.

The Heart Rhythm Society has awarded its 2021 Pioneer in Cardiac Pacing and Electrophysiology Award to Charles Berul, M.D., chief of Cardiology and co-director of the Children’s National Heart Institute at Children’s National Hospital.

The award recognizes an individual who has been active in cardiac pacing and/or cardiac electrophysiology for many years and has made significant contributions to the field. It is typically given to electrophysiologists who treat adults. Dr. Berul is the second pediatric specialist to receive it. Dr. Berul accepted his award at Heart Rhythm 2021, the society’s annual meeting.

“It is wonderful news that Dr. Berul is receiving this award in recognition of his major contributions to this field and to improve the lives of children with heart rhythm challenges,” says David Wessel, M.D., executive vice president, chief medical officer and physician-in-chief at Children’s National Hospital. “We are proud of all he has achieved so far, and are so thankful that he shares his expertise, leadership, mentorship and friendship with us at Children’s National every day. Congratulations to him on this tremendous honor.”

The Heart Rhythm Society notes that Dr. Berul has mentored dozens of trainees who have gone on to successful careers and particularly advocates for young investigators and clinician-scientists. He is known for his collaborative style and promotion of faculty physicians in academic medicine. His scientific work began with cellular electrophysiology and clinical genetics of inherited arrhythmia disorders.

He is known for his development of innovative electrophysiologic studies for phenotypic evaluations of genetically manipulated pre-clinical models. Over the past two decades, his research focus and passion have been to develop novel minimally invasive approaches to the heart and improving methods for pediatric pacing and defibrillation.

Dr. Berul is an active member of the Heart Rhythm Society. He has served on multiple society committees, task forces, and writing groups, and is currently an associate editor for the society’s journal, Heart Rhythm. He is also actively involved in other key organizations such as Mended Little Hearts and the Pediatric and Congenital Electrophysiology Society (PACES).

He has more than 300 publications and is an invited speaker nationally and internationally in the areas of pediatric cardiac electrophysiology and miniaturized device development.

Miriam Bornhorst

Miriam Bornhorst, M.D., receives DOD New Investigator Award

Miriam Bornhorst

Miriam Bornhorst, M.D., clinical director of the Gilbert Neurofibromatosis Institute at Children’s National Hospital, received the Department of Defense’s Neurofibromatosis Research Program New Investigator Award.

This award, which is funded by the U.S. Department of Defense, has granted $450,000 in funds which Dr. Bornhorst hopes to use towards a study for patients with Neurofibromatosis Type 1 (NF1).

“There is very little known about metabolism in NF1, but we know that abnormalities in metabolism can not only affect a person’s overall health, but may also influence how tumors develop and grow,” Dr. Bornhorst explained.

Patients with NF1 can have defining clinical features related to growth and energy metabolism, such as short stature, low weight and decreased bone mineral density, findings that are more prominent in patients with high plexiform neurofibroma (a nerve sheath tumor) burden. The mechanism for this metabolic phenotype and its association with plexiform neurofibromas is not currently understood.

Preliminary data and the work of others suggest that the MAPK pathway may play a role in metabolism and Mek-inhibitor (MEKi) treatment, which decreases activity of the MAPK pathway and promotes weight gain in patients with NF1. Dr. Bornhorst’s study will be the first to explore global metabolism in NF1, determine which metabolic pathways are most active in plexiform neurofibromas and define how metabolomic signatures change during MEKi treatment.

“These findings will improve management and may lead to novel treatment options for patients with NF1,” she said. “It is my hope that the grant funding received for my study will not only allow me to generate data that will answer questions about metabolism in NF1, but foster interest in this topic so there are more opportunities for researchers in the future.”

The NFRP was initiated in 1996 to provide support for research of exceptional scientific merit that promotes the understanding, diagnosis, and treatment of neurofibromatosis (NF) including NF type 1 (NF1) and type 2 (NF2) and schwannomatosis. Since it was first offered, 346 new Investigator Award applications have been received and only 79 have been recommended for funding – with Children’s National receiving one in the latest grant cycle. The Gilbert Family Neurofibromatosis Institute at Children’s National is one of the world’s largest programs and the longest standing program in the United States.

Opinions, interpretations, conclusions and recommendations are those of the author and are not necessarily endorsed by the Department of Defense.

Tomas Silber

Tomas Silber, M.D., awarded AAP’s highest honor in bioethics

Tomas Silber

Each year the American Academy of Pediatrics (AAP) Section on Bioethics presents the Academy’s highest honor in bioethics, the William G. Bartholome Award for Ethical Excellence. The award is named in honor of Dr. Bartholome, who made significant contributions to the field of pediatric ethics, and thus to the medical care of children. This year the Section proudly presented the award to Tomas Silber, M.D., M.A.S.S., adolescent medicine specialist and executive committee member of the Ethics Program at Children’s National Hospital and professor emeritus at George Washington University.

Dr. Silber has dedicated more than fifty years of work to reflecting, writing, teaching and devoting his energy to the divulgation of the field of pediatric ethics. He says it’s an honor to be recognized by his peers with this award.

“As a very young physician, I edited several issues of Pediatric Annals to Pediatric Ethics. One of the contributors I invited was actually Dr. Bartholome, whose seminal work on Pediatric Assent I had followed very closely and admiringly,” says Dr. Silber. “Forty years have passed since our work together, and it is a tremendous honor, now that I am emeritus, to receive the award named after him.”

As he reflects on the present day, Dr. Silber says one of the most important pediatric ethical issues is equity and social justice in the care of children and adolescents.

“Ethicists need to be proactive in dealing with systemic racism in medicine and provide consultations free of bias,” he says.

Dr. Silber is a graduate from the Facultad de Medicina de la Universidad de Buenos Aires. He did his first pediatric residency at El Hospital de Niños en Buenos Aires, his second pediatric residency at Thomas Jefferson University, as part of the community pediatrics track, his fellowship in adolescent medicine at Children’s National and his master’s in special studies (bioethics) at George Washington University. He is a fellow of the AAP, the Pediatric Society, the Academy for Eating Disorders and the Society for Adolescent Medicine and Health.

For several decades, Dr. Silber served as the director of the Pediatric Ethics Program at Children’s National.

“I am most proud of the thoughtful contributions of the multi-disciplinary team of the Ethics Committee at Children’s National, and above all how the torch has now passed to Dr. Vanessa Madrigal and her wise leadership,” says Dr. Silber.

Other standout career achievements include his leadership as chair of the Section on Bioethics of the AAP, and his contribution to the AAP Ethics Curriculum for Pediatric Residents and the chapter on adolescents in the Encyclopedia of Bioethics.

Dr. Silber extends his gratitude to the leadership of Children’s National, who he says made it possible for him to obtain his master’s degree, publish Pediatric Ethicscope and develop his skills as an ethics consultant and research subject advocate.

“Without the support I’ve been given at Children’s National, my work in the field of Pediatric Ethics would not have been possible,” he says.

Dr. Catherine Bollard is accompanied by her mentees

Catherine Bollard, M.D., awarded two notable recognitions

Dr. Catherine Bollard is accompanied by her mentees

Dr. Catherine Bollard and some of her mentees.

For her work on developing cell-based therapies and dedication to her trainees, Catherine Bollard, M.D., MBChB, director of the Center for Cancer and Immunology Research at Children’s National hospital, receives two outstanding awards in her field.

Celebrating the minds behind the architecture of modern medicine and influencing the drug industry, The Medicine Maker, through an international panel of judges, added Dr. Bollard to the 2021 Power List in the category of advanced medicine.

Dr. Bollard mentioned that it is encouraging to see mRNA vaccine technology successfully fighting the COVID-19 pandemic because it paves the way for cancer vaccine advancements. Still, there are challenges affecting drug development. The centralized manufacturing hinders the large-scale production of patient-specific products as more cell therapies are getting approval, she added.

“Looking to the future, cell-based therapies will not be sustainable with a purely patient-specific centralized manufacturing model and, therefore, the field must move into the development of off-the-shelf cell therapies,” said Dr. Bollard. “The success of off-the-shelf virus-specific T-cells is especially exciting because it has the potential to be the platform for other antigen-specific and CAR-T cell therapies.”

A global society of clinicians, researchers, regulators, technologists and industry partners, The International Society for Cell & Gene Therapy (ISCT), will bestow Dr. Bollard the 2021 ISCT Darwin J. Prockop Mentoring Award on May 26. Her ongoing commitment to mentorship has advanced the careers of many aspiring professionals that have worked alongside her. The ISCT Award Committee selected someone that can inspire the current and future growing workforce. Dr. Bollard is highly recognized across the industry for her leadership, passion and dedication to her mentees, and her extraordinary efforts to advance their skills, capabilities and opportunities.

Dr. Catherine Bollard is accompanied by her mentees

To Patrick Hanley, Ph.D., chief and director of the Cellular Therapy Program at Children’s National, Dr. Bollard is the most deserving mentor for this award. She has provided advice and guidance to over 93 individuals, including 22 junior faculty, 27 post-doctoral fellows and 12 graduate students. Dr. Bollard also acts as a mentor to other senior investigators at Children’s National, particularly those in the Bone Marrow Transplantation division.

“For the past 15 years, Cath has been a strong mentor, friend, advocate, and voice of reason for me and has been instrumental in my success, both at Baylor College of Medicine and now at Children’s National,” said Hanley. “With her support and mentorship, I have been fortunate to publish high impact papers, earn a number of awards and receive prestigious grants. Without her guidance this wouldn’t have been possible.”

Amy Hont, M.D., oncologist for the Center for Cancer and Immunology Research at Children’s National, mentioned that Dr. Bollard is endlessly dedicated to her mentees and staff. “Dr. Bollard has been incredibly supportive of my research career throughout my training and progression to faculty. I feel very fortunate that I have been able to benefit not only from her unparalleled knowledge and expertise, but also her career advice and resources.”

Dr. Bollard leads clinical and research efforts to fight cancer and other inflammatory diseases by strengthening the immune system using adoptive cell therapy. She is a former president of the International Society of Cellular Therapy, and the current president of the Foundation for the Accreditation for Cellular Therapy (FACT). As a distinguished hematologist, immunologist and immunotherapist, she is working to develop cell and gene therapies for patients with cancer, viral infections and immune mediated diseases. She is especially interested in bone marrow and cord blood transplantation and improving outcomes after such transplant by decreasing infectious complications and preventing relapse. Dr. Bollard also has a specific interest in targeting viral infections in immune-suppressed patient populations, including individuals living with the human immunodeficiency virus.

Joelle Simpson

Joelle Simpson, M.D., receives ‘Washington Woman of Excellence’ 2021 Award

Joelle Simpson

“I’m honored to have been recognized as one of the many women in our city who have worked tirelessly and made a difference during a year that was challenging for so many beyond measure,” Dr. Simpson said.  

Joelle Simpson, M.D., medical director of Emergency Preparedness at Children’s National Hospital, received the ‘Washington Woman of Excellence’ 2021 Award from the Mayor Bowser’s Office on Women’s Policy and Initiatives (MOWPI).

Every year, in partnership with the District of Columbia Commission for Women, MOWPI bestow these awards to honor District women who have shown dedication, impact and excellence in the areas of health and wellness, civic engagement and women’s empowerment.

“I’m honored to have been recognized as one of the many women in our city who have worked tirelessly and made a difference during a year that was challenging for so many beyond measure,” Dr. Simpson said.

Dr. Simpson was selected for the Sheroes of Health category.

The distinction of this award is shared with a broad cohort of women who work across all eight wards in Washington D.C. Dr. Simpson was recognized for various of her roles, including her leadership and significant accomplishments as medical director for Emergency Preparedness at Children’s National; her work as an Emergency Department physician leading the D.C. Pediatric Medical Reserves Corps; and for her expertise and leadership in impacting the outcomes for children and the community during COVID-19 health emergency.

The Mayor and members of the DC Commission for Women celebrated the annual Washington Women of Excellence Awards virtually.

Natasha Shur

NORD names Natasha Shur, M.D., as hero of rare disease

Natasha Shur

Dr. Shur has a career working as a clinical geneticist for over a decade. She has been a part of the Children’s National community for more than two years. Dr. Shur as well serves as the lead for the Telemedicine Genetics Program under the Rare Disease Institute.

For her advancements in telemedicine genetics and rare diseases, Medical Geneticist Natasha Shur, M.D., received the 2021 Rare Impact Award from the National Organization for Rare Disorders (NORD). The recognition is the highest honor given to individuals that developed exceptional work benefiting the rare disease community.

“Despite the pandemic and the challenges we have faced, there are still heroes to be found among us from whom we can draw inspiration and motivation to keep moving forward,” said Peter L. Saltonstall, NORD president and CEO.

Given her involvement with several innovative projects at Children’s National Hospital, Dr. Shur built an active in-home telemedicine program where patients are being seen for first visits and follow-ups. Her work is helping families, including those with autistic children.

“Recently, in our division, we have been talking a lot about the concept of ‘failing forward.’ The idea is to try new approaches. These methods may not work, but the status quo does not always work either,” said Dr. Shur. “Since we have such a supportive and wonderful group, we can try new ways of working and new models of care.”

During the pandemic, the division led by Marshall Summar,.M.D., also created a telehealth first model of care and augmented educational apps and opportunities. The goal was to ensure that patients with rare disease would not lose access to care. The medical geneticists, genetic counselors, dieticians and administrative team met daily and cohesively to explore and improve new clinical approaches in order to put patients and families first.

Dr. Shur has a career working as a clinical geneticist for over a decade. She has been a part of the Children’s National community for more than two years. Dr. Shur as well serves as the lead for the Telemedicine Genetics Program under the Rare Disease Institute.

The Rare Disease Institute recently opened its new location on the Children’s National Research & Innovation Campus, a first-of-its-kind pediatric research and innovation hub located in Washington, D.C. The campus will provide a unique, state-of-the-art home for clinical genetic and specialty services.

Dr. Martin interacts with a patient

Gerard Martin, M.D., F.A.C.C, recognized with American College of Cardiology top honor

Dr. Martin interacts with a patient

Gerard Martin, M.D., F.A.C.C., has been awarded the 2021 Master of the ACC Award by the American College of Cardiology in honor of contributions to the cardiovascular profession.

Gerard Martin, M.D., F.A.C.C., has been awarded the 2021 Master of the ACC Award by the American College of Cardiology in honor of contributions to the cardiovascular profession. Dr. Martin will be recognized for these achievements along with all 2021 Distinguished Award winners during Convocation at the hybrid 70th Annual Scientific Session & Expo taking place May 15-17, 2021 in Atlanta and virtually.

“Dr. Martin has made lasting contributions to the field of cardiovascular medicine through his dedication to improving cardiovascular health and enhancing patient care,” said ACC President Athena Poppas, MD, F.A.C.C. “It is an honor to be able to recognize Dr. Martin with the Master of the ACC Award and celebrate his tremendous achievements in the cardiovascular field.”

The Master of the ACC (MACC) Award recognizes and honors fellows of the American College of Cardiology who have consistently contributed to the goals and programs of the college and who have provided leadership in important college activities. MACC designees have been members of the college for at least 15 years and have served with distinction and provided leadership on various college programs and committees. Only four distinguished members of the American College of Cardiology are selected for this honor each year.

Dr. Martin is a cardiologist at Children’s National Hospital, where he has been in practice since 1986. He founded the Children’s National Heart Institute in 2004 and was named the C. Richard Beyda Professor of Cardiology in 2007. He has published over 150 peer-reviewed manuscripts, book chapters and invited publications and has presented abstracts at over 125 meetings. Dr. Martin is an invited lecturer who has traveled to over 200 meetings, hospitals and universities within the U.S. and around the world.

Dr. Martin is an advocate for congenital heart disease (CHD) efforts nationally and internationally. He played integral roles in the development and dissemination of critical congenital heart disease screening in using pulse oximetry — a practice that is now standard for all newborns across the United States. He also has volunteered on countless medical missions to developing countries.

Dr. Martin is board-certified in pediatric cardiology, a fellow of the American Academy of Pediatrics and the American College of Cardiology and is also a member of the Society for Pediatric Research and the American Board of Pediatrics.

Nineteen Distinguished Awards will be presented at ACC.21 this year, each recognizing an individual who has made outstanding contributions to the field of cardiovascular medicine. Recipients are nominated by their peers and then selected by the American College of Cardiology Awards Committee.

The American College of Cardiology envisions a world where innovation and knowledge optimize cardiovascular care and outcomes. As the professional home for the entire cardiovascular care team, the mission of the College and its 54,000 members is to transform cardiovascular care and to improve heart health. The ACC bestows credentials upon cardiovascular professionals who meet stringent qualifications and leads in the formation of health policy, standards and guidelines. The College also provides professional medical education, disseminates cardiovascular research through its world-renowned JACC Journals, operates national registries to measure and improve care, and offers cardiovascular accreditation to hospitals and institutions. For more, visit acc.org.

Roger Packer

Roger Packer, M.D., receives Lifetime Achievement Award

Roger Packer

“I am very honored and humbled to receive this recognition from the International Symposium on Pediatric Neuro-Oncology,” says Roger Packer, M.D. “I am proud of the contributions my team and I have made in this field and we look forward to continue to lead research focused on the advancement of the crucial areas neuro-oncology.”

Roger Packer, M.D., senior vice president of the Center for Neurosciences and Behavioral Medicine at Children’s National Hospital, will receive the 2020 Lifetime Achievement Award from the International Symposium on Pediatric Neuro-Oncology. Dr. Packer was selected as a recipient for the prestigious award for his substantial contributions to pediatric oncology and scientific achievements.

“I am very honored and humbled to receive this recognition from the International Symposium on Pediatric Neuro-Oncology,” says Dr. Packer. “I am proud of the contributions my team and I have made in this field and we look forward to continue to lead research focused on the advancement of the crucial areas neuro-oncology.”

Dr. Packer is also a Gilbert Distinguished Professor of Neurofibromatosis and is Director of both the Gilbert Neurofibromatosis Institute and the Brain Tumor Institute of Children’s National Hospital. Most of the current studies Dr. Packer coordinates are studies evaluating innovative agents aimed at the molecular underpinnings of neurologic disease. He has published over 400 original articles and 350 reviews and chapters.

The award will be presented at ISPNO 2020, the 19th International Symposium on Pediatric Neuro-Oncology, December 13-16, 2020, in Karuizawa, Japan.

Children’s National Hospital is incredibly proud of the work Dr. Packer has done in the neuro-oncology community.

Randi Streisand

Randi Streisand, Ph.D., receives 2020 Richard R. Rubin Award

Randi Streisand

Randi Streisand, Ph.D., is the recipient of the 2020 Richard R. Rubin Award. This national award, sponsored by the American Diabetes Association, recognizes a scientist who has made outstanding, innovative contributions to the study and understanding of the behavioral aspects of diabetes.

Currently, Dr. Streisand is a tenured professor of psychology and pediatrics at The George Washington University School of Medicine and serves as chief of the Division of Psychology & Behavioral Health at Children’s National Hospital. Additionally, she serves as vice-chair for the Institutional Review Board, and provides clinical services for families impacted by diabetes and other health conditions. She is also an active mentor and educator for trainees and early career faculty members regarding research and clinical service.

Throughout her career, Dr. Streisand has received multiple research and training grants, published approximately 100 papers in peer-reviewed journals, and presented at national and international meetings. She has also been recognized for her mentorship and received awards from Children’s National as well as the Society of Pediatric Psychology. Dr. Streisand’s research is funded by the National Institutes of Health (NIH) and focuses on parent-child adjustment to diabetes, and behavioral interventions to promote adjustment, adherence and glycemic control. Her research has included young children through teenagers, and she is currently evaluating the use of a parent coach program to support parents of young children newly diagnosed with type 1 diabetes.

Dr. Streisand has served on several editorial boards for journals, serves as a grant reviewer for NIH, and has served in elected positions for professional organizations. She is also a Certified Diabetes Educator.

Dr. Lauri Tosi examines a patient

Building patient-centered outcomes research in osteogenesis imperfecta

Dr. Lauri Tosi examines a patient

Children’s orthopaedic surgeon Laura Tosi, M.D., is the co-lead on a program to improve patient-centered outcomes research and education in osteogenesis imperfecta that recently received a Eugene Washington Engagement Award of $250,000 from the Patient-Centered Outcomes and Research Institute (PCORI).

Children’s orthopaedic surgeon Laura Tosi, M.D., is the co-lead on a program to improve patient-centered outcomes research and education in osteogenesis imperfecta (OI) that recently received a Eugene Washington Engagement Award of $250,000 from the Patient-Centered Outcomes and Research Institute (PCORI). Dr. Tosi serves as project co-lead alongside colleagues Tracy Hart, project lead, from the Osteogenesis Imperfecta Foundation (OIF) and Bryce Reeve, Ph.D., co-project lead, director of the Center for Health Measurement at Duke University.

The project, which will be housed at the Osteogenesis Imperfecta Foundation, will run for two years and seeks to:

  • Create a community of stakeholders (patients/caregivers/clinicians/researchers) who are trained or training in patient-centered outcomes research, with specific attention to priority topics identified by the OI community.
  • Expand communications and education strategies related to patient-centered outcomes research to enhance the care of the OI community.
  • Establish and extend the capacity among patients, caregivers, clinicians and researchers in OI to participate in both patient-centered outcomes research and comparative effectiveness activities.
  • Develop an OI-specific toolkit focused on disseminating evidence-based clinical care recommendations to stakeholders and care providers, based on sustainable input from the OI community.
  • Extended the reach of these activities to support other rate bone disease communities.

Osteogenesis imperfecta is a group of genetic disorders causing connective tissue dysfunction and bone fragility. It is the most common of nearly 450 rare skeletal disorders and affects an estimated 25,000 to 50,000 people in the U.S. Collecting the patient’s perspective about natural history, clinical best practices, quality of life and research priorities is challenging because, like so many rare diseases, the affected population is relatively small and  geographically dispersed.

“We hope this project will give us the ability to develop a set of best practices for care and research based on research that incorporates the patient’s point-of-view,” says Dr. Tosi. “I’m excited to work with this team and begin to change how we think about and care for OI patients and their families.”

Andrew Dauber

Andrew Dauber, M.D., MMSc, caps off research success with award and reception

Andrew Dauber

Unfortunately, we’ve been notified that the ENDO2020 conference has been canceled due to concerns of COVID-19. Because of this, we will not be hosting our reception in honor of Andrew Dauber, M.D., on Sunday, March 29.

We hope to see you at a future Endocrinology or Pediatric Endocrinology event.

Children’s National Hospital is incredibly proud of the work Dr. Dauber has done in the endocrinology community.

Andrew Dauber, M.D., MMSc, division chief of Endocrinology at Children’s National Hospital, will be awarded the 2020 Richard E. Weitzman Outstanding Early Career Investigator Award at ENDO 2020. The prestigious award will be presented at the annual meeting of the Endocrine Society in recognition of Dauber’s work in understanding the regulation of growth and puberty, and applying innovative genetic technologies to studying pediatric endocrinology. Dauber credits many collaborators throughout the world, as well as the team at Children’s National for the award.

With a five-year grant from the National Institutes of Health (NIH), Dauber and colleagues from the Cincinnati Children’s Hospital Medical Center, Boston Children’s Hospital and the Children’s Hospital of Philadelphia are using electronic health records to identify children who likely have rare genetic growth disorders. Using cutting-edge DNA sequencing technologies, including whole exome sequencing, the researchers are aiming to identify novel genetic causes of severe growth disorders. The first paper describing genetic findings in patients with high IGF-1 levels was published in Hormone Research in Paediatrics in December 2019.

Dauber and researchers at Cincinnati Children’s Hospital Medical Center are exploring how to treat patients with mutations in the PAPPA2 gene. In 2016, the group described the first patients with mutations in this gene who had decreased the bioavailability of IGF-1, stunting their growth and development. In their current phase of research, findings are emphasizing the importance of this gene in regulating IGF-1 bioavailability throughout childhood. The ultimate aim is to create therapies to increase IGF-1 bioavailability, thereby supporting healthy growth and development in children. Their first study to track PAPPA2 and intact IBGBP-3 concentrations throughout childhood was published in the European Journal of Endocrinology in January 2020.

Dauber is particularly interested in studying children with dominantly inherited forms of short stature. Along with collaborators in Cincinnati, he currently has an ongoing treatment trial using growth hormone in patients with Aggrecan gene mutations.  Dauber hopes to announce soon a new clinical trial for children with all forms of dominantly inherited short stature.

Study upon study has shown us that there are many factors that affect an individual’s height and growth. As these studies and the conversation around how to identify and address genomic anomalies become more prevalent, the team at Children’s National is increasingly interested in engaging with other centers around the country. In the coming months, the Children’s National Research & Innovation Campus will open on the grounds of the former Walter Reed Army Medical Center, which will serve as a one-of-a-kind pediatric research and innovation hub. A critical component to this campus is the co-location of Children’s National research with key partners and incubator space.

Nadia Merchant

Working to improve the management of endocrine related conditions

Nadia Merchant

This past fall, Nadia Merchant, M.D., joined Children’s National Hospital as an endocrinologist in the Endocrinology and Diabetes Department. Dr. Merchant received her undergraduate and medical education at Weill Cornell Medical College in Qatar. She completed her pediatric residency at Wright State Boonshoft School of Medicine. She then completed her genetics residency and pediatric endocrine fellowship at Baylor College of Medicine/Texas Children’s Hospital.

Dr. Merchant was born with acromesomelic dysplasia, a rare genetic disorder, but that hasn’t stopped her from pursuing her medical career. While at Baylor College of Medicine, Dr. Merchant was very active in quality improvement projects, research and organizations that raise awareness of endocrine related conditions. For several years, she was a moderator at Baylor College of Medicine for “From Stress to Strength,” at a course for parents of children with genetic disorders and autism. Dr. Merchant also served as an endocrine fellow representative on the American Academy of Pediatrics Section on Endocrinology (SOEn) for the last two years and also served on the committee for a Bone and Mineral special interest group within the Pediatric Endocrine Society (PES). During medical school, she worked with Positive Exposure, an organization that uses visual arts to celebrate human diversity for individuals living with genetic, physical, behavioral and intellectual differences.

During the 2019 Endocrine Society Annual Meeting, Dr. Merchant won the Presidential Poster Award for her poster presentation: Assessing Metacarpal Cortical Thickness as a Tool to Evaluate Bone Density Compared to DXA in Osteogenesis Imperfecta a research project assessing whether hand film is an additional tool to detect low bone mineral density in children.

Dr. Nadia Merchant is currently one of the endocrinologists in the multidisciplinary bone health clinic at Children’s National, a clinic dedicated to addressing and improving bone health in children. Dr. Merchant also manages endocrine manifestations in children with rare genetic disorders.

The Endocrinology department at Children’s National is ranked among the best in the nation by “U.S. News & World Report”.

Albert Oh

Albert Oh, M.D., receives 2020 Emerging Leader Award from the ACPA

Albert Oh

Albert Oh, M.D., Director of the Cleft and Craniofacial Program at Children’s National Hospital.

The American Cleft Palate-Craniofacial Association (ACPA) recognized Albert Oh, M.D., with the 2020 Emerging Leader Award. This award is given to professionals who have been members of ACPA between three to 15 years, and who exhibit exemplary accomplishments and dedication to the issues affecting people with cleft and craniofacial conditions.

The ACPA is an association consisting of professionals who treat and/or perform research on cleft and craniofacial conditions. The nonprofit organization also supports those affected through education and resources through its ACPA Family Services program.

As the director of the Cleft and Craniofacial Program at Children’s National Hospital, Dr. Oh is a leader in the research, surgical treatment and holistic care of cleft and craniofacial patients. He has published over 75 peer-reviewed scientific articles and book chapters. Dr. Oh’s current research interests include the outcomes and safety of cleft and craniofacial procedures, 3-D analysis of craniofacial morphology, Pierre Robin sequence and vascular anomalies.

Dr. Oh says that “It is an honor to be recognized by the ACPA and to share their mission of advancing research and improving outcomes for all those affected by cleft and craniofacial conditions.”

Dr. Oh will be presented with his award during the ACPA’s 77th Annual Meeting in Portland, Or.

Gilbert Vezina

Gilbert Vezina, M.D., recognized with American Society of Pediatric Neuroradiology Gold Medal Award

Gilbert Vezina

Gilbert Vezina, M.D., Director of Neuroradiology in the Division of Diagnostic Imaging and Radiology at Children’s National Hospital, is being recognized at the 2020 American Society of Pediatric Neuroradiology 2nd Annual Meeting with the society’s most distinguished honor, the Gold Medal Award.

The American Society of Pediatric Neuroradiology (ASPNR) Gold Medal is awarded for both professional and personal excellence, honoring individuals who are superb pediatric neuroradiologists, scientists, and/or physicians, and mentors and who also are truly outstanding people. Recipients have consistently extended themselves beyond self-interest to make contributions to the field of pediatric neuroradiology and as such, have elevated the subspecialty. This medal recognizes the exceptional service and achievements of these individuals.

Dr. Vezina completed his undergraduate degree at the Collège Jean-de-Brébeuf, Montréal, Canada and medical school at McGill Medical School, Montréal, Canada. He completed a mixed internship at Montreal General Hospital, Montreal, Canada; residency in Diagnostic Radiology, Massachusetts General Hospital, Boston, Massachusetts followed by a fellowship in Neuroradiology, Boston, Massachusetts.

He began his career at Children’s National Hospital in 1990. He is currently the Director of the Neuroradiology Program at Children’s National Hospital and Professor of Radiology and Pediatrics at George Washington University School of Medicine and Health Sciences, Washington DC. He created the Neuroradiology Fellowship Program in 1993 where he impacted medical students, residents and fellows from around the world. He served as president of ASPNR from 2001-2002 and past President from 2002-2005. He also served as the Interim Chief, Diagnostic Imaging and Radiology at Children’s National for a brief period in 2017.

Congratulations, Dr. Vezina!

Dr. Jonas and research collaborator Nobuyuki Ishibashi in the laboratory.

Cardiac surgery chief recognized for studies of surgery’s impacts on neurodevelopment

Dr. Jonas and research collaborator Nobuyuki Ishibashi in the laboratory.

Dr. Jonas and research collaborator Nobuyuki Ishibashi in the laboratory.

Richard Jonas, M.D., is this year’s recipient of the Newburger-Bellinger Cardiac Neurodevelopmental Award in recognition of his lifelong research into understanding the impact of cardiac surgery on the growth and development of the brain. The award was established in 2013 by the Cardiac Neurodevelopmental Outcome Collaborative (CNOC) to honor Jane Newburger and David Bellinger, pioneers in research designed to understand and improve neurodevelopmental outcomes for children with heart disease.

At Children’s National, Dr. Jonas’ laboratory studies of neuroprotection have been conducted in conjunction with Dr. Vittorio Gallo, director of neuroscience research at Children’s National, and Dr. Nobuyuki Ishibashi, director of the cardiac surgery research laboratory. Their NIH-supported studies have investigated the impact of congenital heart disease and cardiopulmonary bypass on the development of the brain, with particular focus on impacts to white matter, in people with congenital heart disease.

Dr. Jonas’s focus on neurodevelopment after cardiac surgery has spanned his entire career in medicine, starting with early studies in the Harvard psychology department where he developed models of ischemic brain injury. He subsequently undertook a series of highly productive pre-clinical cardiopulmonary bypass studies at the National Magnet Laboratory at MIT. These studies suggested that some of the bypass techniques used at the time were suboptimal. The findings helped spur a series of retrospective clinical studies and subsequently several prospective randomized clinical trials at Boston Children’s Hospital examining the neurodevelopmental consequences of various bypass techniques. These studies were conducted by Dr. Jonas and others, in collaboration with Dr. Jane Newburger and Dr. David Bellinger, for whom this award is named.

Dr. Jonas has been the chief of cardiac surgery and co-director of the Children’s National Heart Institute since 2004. He previously spent 20 years on staff at Children’s Hospital Boston including 10 years as department chief and as the William E. Ladd Chair of Surgery at Harvard Medical School.

As the recipient of the 2019 award, Dr. Jonas will deliver a keynote address at the 8th Annual Scientific Sessions of the Cardiac Neurodevelopmental Outcome Collaborative in Toronto, Ontario, October 11-13, 2019.

Rohan Kumthekar and Charles Berul

Rohan Kumthekar wins AAP’s Cardiology Research Fellowship Award

Rohan Kumthekar and Charles Berul

Dr. Kumthekar and Charles Berul, M.D., chief of Cardiology, discuss less invasive approaches for infants who require pacemaker and defibrillator placements.

Efforts to develop surgical approaches that would eliminate the need for complex, open surgery when placing pacemakers in tiny infants and young children has earned cardiology fellow Rohan Kumthekar, M.D., the American Academy of Pediatrics Cardiology Research Fellowship Award.

“Placing a pacemaker in a small child is different than operating on an adult, due to their small chest cavity and narrow blood vessels,” said Dr. Kumthekar in a 2018 interview about the proof of concept study for this work. “By eliminating the need to cut through the sternum or the ribs and fully open the chest to implant a pacemaker, the current model, we can cut down on surgical time and help alleviate pain.”

“We hope that this approach to lead placement eliminates the need for surgery in this group of pediatric patients,” he further explains in the 2019 award announcement. “This research could have a transformative impact in changing the current clinical standard for pacemaker and ICD implantation in pediatric patients by converting an open surgical approach to a minimally invasive procedure.”

The award, which is supported by the Children’s Heart Foundation, provides research support for an individual who has demonstrated aptitude for basic science or clinical science research during their pediatric cardiology fellowship.

Tania Ahluwalia

Simulation curriculum for emergency medicine trainees in India

Tania Ahluwalia

“It is essential to equip emergency physicians in India with these necessary skills so they can provide the best acute care for children and help the country overcome its burden of pediatric illness. This project focuses on simulation training because it is a very effective way to practice clinical and communication skills,” says Tania Ahluwalia, M.D., FAAP.

India has a high burden of pediatric illness, and close to 1 million children die each year.

Despite those staggering public health challenges, pediatric emergency medicine training remains in its infancy in India. Tania Ahluwalia, M.D., FAAP, associate director of Global Health Programs, Division of Emergency Medicine and Trauma Services at Children’s National Hospital has been working with the Ronald Reagan Institute of Emergency Medicine to help address that training gap.

“It is essential to equip emergency physicians in India with these necessary skills so they can provide the best acute care for children and help the country overcome its burden of pediatric illness. This project focuses on simulation training because it is a very effective way to practice clinical and communication skills,” Dr. Ahluwalia says.

Each October a team led by Dr. Ahluwalia teaches Pediatric Emergency Medicine modules in India based on a three-year curriculum.  In October 2019, they will focus on neonatology. And thanks to a 2019-2020 Global Health Initiative Exploration in Global Health Award presented during Research and Education Week at Children’s National, over two weeks Dr. Ahluwalia will visit various cities in India with a team that includes:

  • Kaitlyn Boggs, M.D., a second-year pediatric resident at Children’s National
  • Camilo Gutierrez, M.D., Children’s National Emergency Medicine and Trauma Services
  • Simone Lawson, M.D., Children’s National Emergency Medicine and Trauma Services
  • Shobhit Jain, Kansas City
  • Shiva Kalidindi, Nemours Children’s Hospital
  • Manu Madhok, Minneapolis

For the study, about 80 trainees participating in postgraduate emergency medicine training programs in India will practice skills, such as intubating a patient, using the same medical equipment and mannequins of the same size as pediatric patients. The trainees will review several pediatric emergency medicine cases that were developed based on a needs assessment at partner programs in India. First, visiting faculty members will watch videos developed by Dr. Ahluwalia, Michael Hrdy, M.D., and Rachael Batabyal, M.D., and will review literature on how to conduct simulation in a developing country.

Faculty teaching neonatology, use of simulation modules and other pediatric emergency medicine training topics will visit Bangalore, Bhubaneswar, Dehradun, Delhi, Kochi, Kolkata, Kozhikhode, Madurai and Mumbai. (Kate Douglass, M.D., of the George Washington University and Serkan Toy, Ph.D., an educational psychologist at John Hopkins University, have been heavily involved in this project but will not travel to India in October.)

“My passion is global education so, for me, this project will be a success if we improve the trainees’ comfort, knowledge and skill at providing patient care after undergoing this simulation-based curriculum. We also want to improve our faculty’s capacity to teach through these simulation modules, so there are definitely learning opportunities for both U.S. teachers and Indian trainees,” she adds.

WATCH: Introduction to simulation training
WATCH: Performing a simulation learning event
WATCH: Debriefing tools

Financial support for research described in this post was provided by the 2019-2020 Global Health Initiative Exploration in Global Health Award.

M and her daughter

Tracing the history of aggrecan gene mutations

M and her daughter

M takes a photo with her daughter in Washington, where they learned they have an ACAN gene mutation that causes short stature.

On Sunday, April 28, 2019 a team of researchers received the 2019 Human Growth Award at the Pediatric Endocrine Society’s Annual Meeting for their abstract, entitled “Clinical Characterization and Trial of Growth Hormone in Patients with Aggrecan Deficiency: 6 Month Data,” and presented this at the PES Presidential Poster Session.

Eirene Alexadrou, M.D., a fellow at Cincinnati Children’s Hospital Medical Center, accepted the award and honorarium, while ongoing research is underway. This study started in 2017, with the objective of characterizing the phenotypic spectrum and response to a standardized regimen of growth hormone in a small cohort of 10 patients and their families.

In 2017, Andrew Dauber, M.D., MMSc., the division chief of endocrinology at Children’s National Health System, led an international consortium of researchers in publishing a manuscript describing the phenotypic spectrum of 103 individuals – 70 adults and 33 children, including 57 females and 46 males – from 20 families with aggrecan gene (ACAN) mutations.

Dr. Dauber and his colleagues have established that short stature and accelerated bone age is common among people with ACAN mutations. In a review of retrospective data, including patients treated with a variety of growth-promoting therapies at varying doses, the research team found that over the first one, two and three years of treatment, the standard deviation scores (SDS) for height increased by .4, .7 and 1, respectively. The current abstract now describes seven children enrolled in a prospective standardized trial of growth hormone therapy. After six months of treatment, the children have increased their height SDS by an average of 0.46.

Additionally, the researchers are performing an in-depth look at the joint effects, including special MRIs of the knees. They found that two of the children had a problem with their knee cartilage called osteochondritis dissecans. They had not yet presented with clinical symptoms. The researchers hope that early intervention with physical therapy can help prevent significant joint disease in the future.

M and her mother and daughter in Cincinnati

M, her daughter, and M’s mother take a photo in Cincinnati, where they are participating in a clinical trial for aggrecan deficiency.

“Providing growth hormone therapy to children with ACAN gene mutations is relatively new in the field of pediatric endocrinology,” notes Dr. Dauber. “Previously, the assumption was that this was just short stature. We’ll continue to diagnose ACAN mutations in a clinical setting and work with families to reduce the risk of complications, such as joint problems or early-onset arthritis, which may co-occur with this gene mutation.”

As an example, Dr. Dauber met an 8-year-old patient several months ago who presented with symptoms of short stature. The patient is healthy, confident and still growing so her mother wasn’t worried about her but she made the appointment to see if there was an underlying cause to her daughter’s short stature. Her family history revealed clues to an ACAN mutation, which was later confirmed through genetic tests. Her mom, M, stands 4’8; her grandmother is 4’9. Her great grandmother was short and her great, great grandfather was 5’1. Short stature and joint problems run in the family. Once M mentioned she had osteochondritis dissecans and a hip replacement, she provided a textbook case study for carrying the ACAN mutation.

After the appointment, M shared the news with her mother about the possibility of having aggrecan deficiency. After taking genetic tests, M, her mother and M’s daughter learned they all have the ACAN mutation, and enrolled in the study that Dr. Dauber is guiding. Suddenly, it all made sense. After examining family photos, they traced the ACAN mutation back through four generations.

They could tell what relatives had an altered copy of the ACAN gene. M had it, while her two sisters did not. M’s mother was an only child, so she didn’t have aunts or uncles to compare her mother’s height to, but M’s grandmother was short, while her grandmother’s brother was average height. Although her mother’s family was from Germany, she learned that there is no specific ancestry associated with this mutation. It happens by chance and is passed down from a single parent to, on average, half of their children, a form of genetic inheritance called autosomal dominant transmission.

Ms great grandmother and grandfather

M’s great grandfather was noticeably shorter than her great grandmother, who was 5’4.

Through further research, M learned that the ACAN gene provides instructions for producing aggrecan protein, which is essential for bone growth, as well as for the stability of cartilage that lines bones and joints, explaining her recurring joint problems.

She also looked into the future, examining potential risk factors for her daughter: joint pain and bone conditions, which could contribute to arthritis, hip dysplasia and back problems.

The diagnosis now makes it easier for M and her daughter to favor bone-building activities that are easy on the joints, like swimming or water aerobics, instead of gymnastics and weight lifting. After having a hip replacement, M was careful to supplement with calcium and vitamin D. Now, she’ll take the same steps to ensure optimal bone health for her daughter. She’ll work with orthopedic specialists as her daughter grows into her pre-teen and adolescent years, carefully monitoring joint pain – altering activities that are tough on the joints, as necessary.

M let her daughter make a decision about growth hormone therapy, which she decided to try. The benefits of the treatment, increased height, carry inconveniences, such as taking daily shots, but they are sticking with it.

“We’re at the tip of the iceberg with research that explores this gene mutation,” says Dr. Dauber. “We’ll continue to study these families, and more, over time to assess growth patterns and  gene expression, which may reveal other mutations associated with short stature or joint problems, and guide future treatment options. It was a coincidence that this family had the ACAN mutation and scheduled an appointment, while we’re conducting this study. Otherwise, they may not have had an answer since this is fairly new research.”

M and her daughter are happy to be part of this study, which they will participate in for the next few years. M’s mother is also glad to participate. She made a different choice, decades ago, to reject hormone treatment when it was offered to her for undiagnosed short stature, but she’s sharing genetic clues, which may influence treatment options for her granddaughter and for her family’s next generation.

The original study, “Clinical Characterization of Patients with Autosomal Dominant Short Stature due to Aggrecan Mutations,” appeared in the Feb. 2017 issue of the Journal of Clinical Endocrinology and Metabolism, and published as an online advance on Nov. 21, 2016.

Thirty-six researchers collaborated on this original paper, which was funded by 16 international health institutes and foundations, including the Eunice Kennedy Shriver National Institute of Child Health and Human Development at the National Institutes of Health, the Swedish Research Council, the Swedish Governmental Agency for Innovation Systems, the Marianne and Marcus Wallenberg Foundation, the Stockholm County Council, the Swedish Society of Medicine, Byggmastare Olle Engkvist’s Foundation, the Sao Paulo Research Foundation, the Spanish Ministry of Education and Science, the Czech Health Research Council and the Ministry of Health, Czech Republic.