Research Institute Archives

Auditorium at the Cell and Gene Therapy in the DMV Symposium

Cell & Gene Therapy in the DMV: Experts collaborate for cures

November 15, 2023

Leaders in medicine, academia, industry and state and local government came together for the first annual Cell and Gene Therapy in the DMV Symposium, hosted at the Children’s National Research & Innovation Campus. The mission: Connect the local scientific community – bursting with expertise and collaboration potential – to develop these cutting-edge therapies for cancers, sickle cell disease and immune-mediated disorders.

The daylong event drew over 100 experts from a range of organizations in the D.C, Maryland and Virginia region, sometimes called the DMV: Children’s National Hospital, the Food and Drug Administration, the National Institute of Standards and Technology, the National Institutes of Health, the General Accounting Office, Virginia Tech, MaxCyte, AstraZeneca, Kite Pharma, Montgomery College, the Maryland State Department of Commerce and more. Together, they unraveled a host of topics including the regulatory environment, workforce development and training, research standards and the promise of these therapies.

“Our Cell & Gene Therapy Symposium brings together our current collaborators and future partners in the D.C., Maryland and Virginia space, which is an incredibly rich area. We see tremendous opportunity and breakthroughs in our future,” said Catherine Bollard, M.D., M.B.Ch.B., interim chief academic officer and chief of Pediatrics at Children’s National Hospital. “Many different diseases rely on the immune system to either be ramped up or to be controlled, and we can seize on these biological processes. Cell and gene therapies are at the heart of where medicine is going.”

The big picture

For decades, oncologists largely have turned to the same menu of treatments to fight cancer, including surgery, chemotherapy and radiation. Cell and gene therapies offer the promise of training the immune system to fight diseases with fewer side effects and potentially higher success rates. Early work has shown progress in liquid cancers, like leukemia, raising the possibility that the therapies could be used on solid tumors and other disorders, such as lupus and sickle cell disease. However, many disciplines must come together to yield discoveries.

“Nobel Prize-winning work doesn’t necessarily translate into available therapies for patients. It takes a whole community like this to make it happen,” said Cenk Sumen, chief scientific officer at MaxCyte Inc., an international cell engineering company based in Rockville, Md. “It has been exciting to see this diverse group of stakeholders come together, which is probably unmatched anywhere on the planet.”

Why we’re excited

Symposium host Patrick Hanley, Ph.D., chief and director of the Cellular Therapy Program at Children’s National, said the goal was to cement the region as the No. 1 location for this highly technical research and development. He believes Children’s National can offer essential elements to this success, given its clinical and research expertise, workforce training opportunities and geographic proximity to the scientific leadership of the federal government. “What makes us unique is our proximity to all the players who can help create new treatment options for patients. We truly are the biomedical capital of the world,” he said.

Michael Friedlander, vice president for health sciences at Virginia Tech, notes that the earliest stages of invention will emanate from academic labs including those at Virginia Tech and Children’s National. “You have basic scientists who are doing fundamental research on properties and procedures that will lead to the new therapies of tomorrow,” he said. “We are putting in place the fundamental pieces to advance children’s health in all dimensions.”

What’s ahead

One challenge is developing a workforce to help prepare cell therapies for patients, following precise standards to ensure the therapy works as designed. Children’s National does this training, as do others in the region. Lori Kelman, Ph.D., M.B.A., biotechnology coordinator and professor at Montgomery College, said that the area is full of people who want to help people and who like science.

“The thing that people might not know is that you don’t need a Ph.D. to work in cell and gene therapy,” she said. “There are opportunities at all levels, including the entry level, which is where a great career often starts.”

Children’s National selected as member of ARPA-H Investor Catalyst Hub spoke network

November 13, 2023

The hospital will advocate for the unique needs of children as part of nationwide network working to accelerate transformative health solutions.

Children’s National Hospital was selected as a spoke for the Investor Catalyst Hub, a regional hub of ARPANET-H, a nationwide health innovation network launched by the Advanced Research Projects Agency for Health (ARPA-H).

The Investor Catalyst Hub seeks to accelerate the commercialization of groundbreaking and accessible biomedical solutions. It uses an innovative hub-and-spoke model designed to reach a wide range of nonprofit organizations and Minority-Serving Institutions, with the aim of delivering scalable healthcare outcomes for all Americans.

“The needs of children often differ significantly from those of adults. This partnership reflects our commitment to advancing pediatric healthcare through innovation and making sure we’re addressing those needs effectively,” said Kolaleh Eskandanian, Ph.D., M.B.A., vice president and chief innovation officer at Children’s National. “Leveraging the strength of this hub-and-spoke model, we anticipate delivering transformative solutions to enhance the health and well-being of the patients and families we serve.”

Children’s National joins a dynamic nationwide network of organizations aligned to ARPA-H’s overarching mission to improve health outcomes through the following research focus areas: health science futures, proactive health, scalable solutions and resilient systems. Investor Catalyst Hub spokes represent a broad spectrum of expertise, geographic diversity and community perspectives.

“Our spoke network embodies a rich and representative range of perspectives and expertise,” said Mark Marino, vice president of Growth Strategy and Development for VentureWell and project director for the Investor Catalyst Hub. “Our spokes comprise a richly diverse network that will be instrumental in ensuring that equitable health solutions reach communities across every state and tribal nation.”

As an Investor Catalyst Hub spoke, Children’s National gains access to potential funding and flexible contracting for faster award execution compared to traditional government contracts. Spoke membership also offers opportunities to provide input on ARPA-H challenge areas and priorities, along with access to valuable networking opportunities and a robust resource library.

Children’s National awarded nearly $7.5 million by FDA to lead pediatric device innovation consortium

November 2, 2023

Children’s National Hospital was awarded nearly $7.5 million in a five-year grant to continue its leadership of an FDA-funded pediatric device consortium. Building upon a decade of previous consortium leadership, the new consortium is Alliance for Pediatric Device Innovation (APDI) and features a new and expanded roster of partners that reflects its added focus on providing pediatric innovators with expert support on evidence generation, including the use of real-world evidence (RWE), for pediatric device development.

Collaborating for success

With the goal of helping more pediatric medical devices complete the journey to commercialization, APDI is led by Children’s National, with Kolaleh Eskandanian, Ph.D., M.B.A., vice president and chief innovation officer, serving as program director and principal investigator, and Julia Finkel, M.D., pediatric anesthesiologist and director of Pain Medicine Research and Development in the Sheikh Zayed Institute for Pediatric Surgical Innovation, serving as principal investigator.

Consortium members include Johns Hopkins University, CIMIT at Mass General Brigham, Tufts Medical Center, Medstar Health Research Institute and MedTech Color. Publicly traded OrthoPediatrics Corp., which exclusively focuses on advancing pediatric orthopedics, is serving as APDI’s strategic advisor and role model for device innovators whose primary focus is children.

Why we’re excited

Consortium initiatives got underway quickly with the announcement of a special MedTech Color edition of the “Make Your Medical Device Pitch for Kids!”^™competition that focuses on African American and Hispanic innovators. Interested innovators can find details and apply at MedTech Color Pitch Competition. The competition was announced at the recent MedTech Color networking breakfast on Oct. 10,2023 at The MedTech Conference powered by AdvaMed.

“We all benefit from greater equity and inclusion among pediatric MedTech founders, decision-makers, investigators and developers in more effectively addressing the needs of the entire pediatric population,” said Eskandanian. “We need the expertise and insights of innovators from diverse backgrounds, and we want to provide these talented individuals with more opportunities to present their work and share their perspectives on pediatric device development.”

Additional details

APDI is one of five FDA-funded consortia created to provide a platform of services, expertise and funding to help pediatric innovators bring medical devices to the market that specifically address the needs of children.

Babies with congenital heart disease display disrupted brain function before birth

November 1, 2023

In their study, the team at Children’s National Hospital found that specific brain regions become especially vulnerable to injury around 24 weeks of pregnancy when developing babies begin to have high energy demands and rapid neurovascular changes.

For the first time, researchers have found that babies born with congenital heart disease (CHD) have alterations to the emerging functional connectivity of their brains in utero. The changes are related to the subtype of their CHD and their oxygen status before they have lifesaving surgery to treat their cardiac malformation, according to new findings published in the American Heart Association’s Circulation Research.

In their study, the team at Children’s National Hospital found that specific brain regions become especially vulnerable to injury around 24 weeks of pregnancy when developing babies begin to have high energy demands and rapid neurovascular changes. That leaves certain parts of the brain, including the brainstem, more susceptible to injury from cardiac complications and poor circulation.

“We used a special type of magnetic resonance imaging to safely study the brains of these unborn babies, and we found that they have weakened connectivity in the deep grey structures, which are responsible for sensation, movement, alertness and other core functions,” said Josepheen De Asis-Cruz, M.D., Ph.D., assistant professor at the Developing Brain Institute at Children’s National and an author of the study. “This offers an important clue in utero to the type of care the babies will eventually need when they are born.”

The big picture

In the past decade, the survival rate for fetuses with CHD has greatly improved. About 80% of cases – even some of the most high-risk heart defects – can be successfully treated or palliated with surgery and survive. Yet Dr. Cruz said researchers are finding that the rates of poor neurodevelopmental outcomes are about the same. That’s why she and her colleagues are looking at what precisely may be injuring the brains of these newborns prior to surgery, offering a possible roadmap to interventions.

The fine print

The research team studied 107 healthy, low-risk pregnancies and 75 pregnancies known to be complicated by CHD. They used functional connectivity magnetic resonance imaging (fcMRI) to examine the emerging connections of the brains of unborn babies, given fcMRI’s unique ability to query the brain in a resting state when a patient is unable to respond to tasks. They also studied the oxygen saturation levels of the babies after they were born and then mapped all of this information to the type of CHD that they were diagnosed with.

“Our findings indicate that the compromised connectivity in the brains of CHD patients before delivery is linked to hypoxia after birth,” Cruz said. “There were important differences in the low- and high-risk CHD groups. Babies born with transposition of the great arteries or hypoplastic left heart syndrome – two of the most high-risk diagnoses – have notable changes in their brain function, which could someday be used as biomarkers to guide their care.”

What’s ahead

Researchers at Children’s National are working together, using a variety of modalities, to move toward precision imaging in utero to help predict a child’s neurodevelopmental outcomes. The ultimate goal: better interventions sooner.

“This work is foundational. As we fine-tune more techniques to identify babies at risk, we can understand how environmental, genetic and epigenetic factors impact brain development and guide care decisions,” said Catherine Limperopoulos, Ph.D., director of the Center for Prenatal, Neonatal & Maternal Health Research and a senior author of the paper. “We can imagine a day where we can offer pregnant mothers highly detailed and personalized information about their unborn baby, and individualized interventions that lead to healthier lifetimes.”

Earlier detection of cardiometabolic risk factors for kids may be possible through next generation biomarkers

October 31, 2023

The next generation of cardiometabolic biomarkers should pave the way for earlier detection of risk factors for conditions such as obesity, diabetes and heart disease in children.

American Heart Association statement finds potential future measures, reiterates importance of heart-healthy lifestyle from birth through adulthood.

The next generation of cardiometabolic biomarkers should pave the way for earlier detection of risk factors for conditions such as obesity, diabetes and heart disease in children, according to a new scientific statement from the American Heart Association published in the journal Circulation.

“The rising number of children with major risk factors for cardiometabolic conditions represents a potential tsunami of preventable disease for our healthcare system,” says the statement’s lead author Michele Mietus-Snyder, M.D., a preventive cardiologist and clinical research scientist at Children’s National Hospital. “But by the time a child is identified based on today’s clinical biomarkers, it’s often too late to reverse the disease trajectory.”

The big picture

The scientific statement included biomarkers that met three criteria:

Early and precise clinical detection of metabolic abnormalities before a child begins to show the current clinical signs such as high body mass index (BMI), blood pressure or cholesterol.
Mechanistic intervention targets providing immediate risk measures and giving clinicians new targets to personalize and optimize interventions.
Modifiable biomarkers that are capable of tracking progression toward or away from cardiometabolic health.

The statement’s identified biomarkers included measures of:

Epigenetic, or environmental, factors
Gut microbiome health
Small particle metabolites in the body
Different types of lipids and their impacts on cell membranes
Inflammation and inflammatory mediators

The authors proposed these biomarkers with the goal of “expanding awareness to include a whole new realm of biomarkers that precede the traditional risk factors we currently rely upon, such as BMI, blood pressure, cholesterol and blood sugar,” says Mietus-Snyder. “Ideally, these new biomarkers will be added to the array of measures used in clinical research to better assess their value for earlier identification and prevention of global patterns of cardiometabolic health and risk.”

Why it matters

The next generation cardiometabolic biomarkers outlined by the authors are all currently used in research studies and would need to be validated for clinical use. However, Mietus-Snyder notes that the data already collected from these biomarkers in research can make a difference in clinical practice by enhancing our understanding of the deep metabolic roots for children at risk.

Evidence reviewed in the statement shows the risk factors children are exposed to, even before birth, can set the stage for cardiovascular and metabolic health across the lifespan.

Interestingly, all the different factors reviewed have been found to alter the functioning of the mitochondria — the complex organelles responsible for producing the energy for the body that every cell and organ system in turn needs to function. Every class of biomarkers reviewed is also favorably influenced by heart-healthy nutrition, a simple but powerful tool known to improve mitochondrial function.

What’s next

Even as the new so-called ‘omic’ biomarkers reviewed in this statement are developed for clinical applications, there are things clinicians can do to optimize them and improve mitochondrial function, according to Mietus-Snyder.

Most important is to strengthen the collective dedication of care providers to removing the barriers that prevent people, especially expecting mothers and children, from living heart-healthy lifestyles.

We have long known lifestyle factors influence health. Even as complicated metabolic reasons for this are worked out, families can reset their metabolism by decreasing sedentary time and increasing activity, getting better and screen-free sleep, and eating more real foods, especially vegetables, fruits and whole grains, rich in fiber and nutrients, with fewer added sugars, chemicals, preservatives and trans fats. Clinicians can work with their patients to set goals in these areas.

“We know diet and lifestyle are effective to some degree for everyone but terribly underutilized. As clinicians, we have compelling reasons to re-dedicate ourselves to advocating for healthy lifestyle interventions with the families we serve and finding ways to help them implement them as early as possible. The evidence shows the sooner we can intervene for cardiometabolic health, the better.”

FDA approves muscular dystrophy drug built on Children’s National research

October 27, 2023

Duchenne muscular dystrophy (DMD) is the most common hereditary neuromuscular disease.

Boys with Duchenne muscular dystrophy (DMD) have a clinically proven, new treatment option with the Food and Drug Administration’s approval of vamorolone, a steroidal-type, anti-inflammatory drug developed based on research performed at Children’s National Hospital.

Created by ReveraGen BioPharma Inc., vamorolone has a molecular structure similar to traditional corticosteroids, which are currently used to treat DMD. Yet its structure was found to be chemically different enough to reduce unwanted side effects, including brittle bones and reduced stature. Nearly two decades ago, ReveraGen leaders – President and CEO Eric Hoffman, Ph.D., and Vice President for Research Kanneboyina Nagaraju, D.V.M., Ph.D. – launched research efforts into the drug when they led the Center for Genetic Medicine Research at Children’s National. They worked with then-Chief Academic Officer Mark Batshaw, M.D., on the new clinical option.

“Throughout my career, I have treated children with DMD, and I have seen over time how their shorter heights and brittle bones impact them physically and emotionally – in terms of their self-esteem and ability to participate in activities,” Dr. Batshaw said. “This drug should help these boys function more effectively and prevent certain long-term complications.”

The patient benefit

Muscular dystrophy includes a group of degenerative genetically inherited neuro-muscular diseases that strike only boys. DMD is the most common, severe and life-threatening form of muscular dystrophy. ReveraGen studied vamorolone for patients ages two years and up in the hopes of providing a new, FDA-approved treatment option for these children. In clinical trials, daily treatment with vamorolone improved muscle strength and stature with results comparable to prednisolone, but without some of the most impactful side effects of steroids, particularly the stunted growth and weakened bones.

Children’s National Hospital leads the way

Kolaleh Eskandanian, Ph.D., M.B.A., P.M.P., vice president and chief innovation officer for Children’s National, said Drs. Hoffman and Nagaraju’s work on the drug paved the way for entrepreneurship at the hospital, as they were the first faculty members to launch a spin-off company. Since then, more than 130 faculty members have been named as inventors on 132 patents. Children’s National is now home to Innovation Ventures, the hospital’s intellectual property development and commercialization arm, which provides guidance and resources to academic entrepreneurs who introduce a concept for pediatric medical products.

“We cannot wait to see the tremendous effort behind vamorolone in the hands of patients and clinicians treating Duchenne muscular dystrophy,” Eskandanian said. “Today’s FDA approval for ReveraGen shows the importance of supporting clinicians and researchers who are developing solutions to advance healthcare for children.”

Why we’re excited

Hoffman said the drug has been through a series of clinical trials showing advantages over the current treatment options. In 2024, Catalyst Pharma will market vamorolone under the trade name Agamree in the United States.

“Vamorolone was developed using a different business model and drug development approach, including partnerships with the National Institutes of Health, Department of Defense, the European Commission and more than a dozen international nonprofit foundations,” Dr. Hoffman said. “The collaborative, community-engaged approach—including 32 academic clinical sites in 11 countries — and the participation of hundreds of DMD families led to this approval today.”

Novel camera + machine learning = hope for more precise neurosurgery

October 27, 2023

collage of hyperspectral imaging (sHSI) camera and brain surgery

Researchers at Children’s National Hospital developed a compact imaging camera capable of seeing beyond the human visual spectrum to help segment healthy brain tissue from tumors during surgery. The groundbreaking technology will allow neurosurgeons to make more precise, real-time decisions in the operating room, rather than sending samples to pathology labs for biopsies.

In a manuscript published in Bioengineering, the team of engineers and neurosurgeons details how its snapshot hyperspectral imaging (sHSI) camera can be used to capture and process images of brain tissue, using the wide spectrum of light between visible and infrared wavelengths. That additional information — beyond the human eye — has the potential to allow for more accurate and complete tumor removal.

“In the hands of a neurosurgeon, this camera, when combined with machine learning, could dramatically improve outcomes for some of our most vulnerable brain tumor patients,” said Richard Jaepyeong Cha, Ph.D., an optical engineer and principal investigator at the Sheikh Zayed Institute of Pediatric Surgical Innovation. “We are able to attach the camera to a surgical microscope and process a significant amount of information from the patient while in the operating room. Not only could this lead to more complete tumor resection, it will also allow the surgeon to save as much healthy brain tissue as possible and reduce lifelong neurological complications.”

Why we’re excited

Brain tumors are the most common solid tumors in children, accounting for the highest number of pediatric cancer deaths globally each year. To develop a treatment plan, neurosurgeons need to understand the tumor’s features, including its type, grade of malignancy, location and its categorization as a primary or metastatic cancer. This information leads to decisions about how to remove or biopsy a tumor.

Under the current protocols, surgeons evaluate tumor margins in the operating room by examining the appearance of the brain tissue and sending out small samples to the pathology department for biopsies. This can lead to longer surgeries and difficult real-time surgical decisions. For instance, some low-grade tumors are visually indistinguishable from healthy brain tissue.

In four investigational cases approved by the hospital’s institutional research board, the sHSI camera was used in the operating room to help segment healthy pediatric brain tissue from tumors. Unlike the conventional red-green-blue (RGB) imaging cameras, which use only those three colors, HSI captures spectral data at each pixel of the image — a task too complex for the human eye — and sends it instantly for processing by an algorithm designed to assist in tumor segmentation.

What’s ahead

Despite the small dataset, the researchers were able to successfully segment healthy brain tissue from lesions with a high specificity during pediatric brain tumor resection procedures. Significant work remains to refine the technology and the machine learning behind it. Researchers also plan to integrate the sHSI camera into a laparoscope to visualize tumors that are not on the brain’s surface and collect data from more angles.

“As we develop these groundbreaking tools, we plan to continue to expand the dataset and refine the algorithm to make pediatric neurosurgery continually more precise,” said Naomi Kifle, M.S., research and development engineer at Children’s National and first author on the paper. “As our dataset grows, we hope to create a model that can distinguish healthy brain tissue, tumor and skull. This groundbreaking surgical tool shows significant promise.”

Federated learning: A solution to AI’s data-sharing challenges

October 26, 2023

Federated learning can solve data-sharing challenges, allowing nimble collaboration across institutions to drive medical advances using artificial intelligence (AI).

Federated learning can solve data-sharing challenges, allowing nimble collaboration across institutions to drive medical advances using artificial intelligence (AI), according to a new manuscript from 10 thought leaders in AI and machine learning in medicine.

In Health Informatics Journal, these leading experts on how technology is shaping medicine shared a conversation that they had at the Radiology Society of North America’s conference. They weighed challenges facing AI, including barriers to data sharing because of privacy rules that prevent the distribution of information to different institutions. With federated learning, models are shared – rather than data – allowing institutions to aggregate information and collaborate with a master model.

“Federated learning offers tremendous promise,” said Marius George Linguraru, D.Phil., M.A., M.Sc., the Connor Family Professor of Research and Innovation, principal investigator at the Sheikh Zayed Institute of Pediatric Surgical Innovation and senior author on the manuscript. “As a community of experts, we have found that federated learning allows us to move away from the challenges of sharing data in central repositories. Instead, we share the models, which can be designed to protect privacy by limiting what’s shared outside of any given institution.”

A champion of pediatric health, Linguraru wants to ensure that children are represented in the development of models that advance science and medicine. “Sharing data is even more crucial when there are few patients, such as in rare diseases or pediatric populations,” he said. “In general, healthcare data suffers from inequitable representation in our public health systems and services.”

Learn more here about the challenges and potential solutions from experts at Rhino Health, Johns Hopkins University School of Medicine, NVIDIA, University of Cambridge, Ben-Gurion University Israel, MD Anderson Cancer Center, Dana-Farber Cancer Institute and Children’s National Hospital.

AI team wins international competition to measure pediatric brain tumors

October 17, 2023

Winners of the International Conference on Medical Image Computing and Computer Assisted Intervention
Children’s National Hospital scientists won first place in a global competition to use artificial intelligence (AI) to analyze pediatric brain tumor volumes, demonstrating the team’s ground-breaking advances in imaging and machine learning.

During the International Conference on Medical Image Computing and Computer Assisted Intervention (MICCAI), the Children’s National team demonstrated the most accurate algorithm to study the volume of brain tumors – the most common solid tumors affecting children and adolescents and a leading cause of disease-related death at this young age. The technology could someday help oncologists understand the extent of a patient’s disease, quantify the efficacy of treatments and predict patient outcomes.

“The Brain Tumor Segmentation Challenge inspires leaders in medical imaging and deep learning to try to solve some of the most vexing problems facing radiologists, oncologists, computer engineers and data scientists,” said Marius George Linguraru, D.Phil., M.A., M.Sc., the Connor Family Professor in Research and Innovation and principal investigator in the Sheikh Zayed Institute for Pediatric Surgical Innovation. “I am honored that our team won, and I’m even more thrilled for our clinicians and their patients, who need us to keep moving forward to find new ways to treat pediatric brain tumors.”

Why we’re excited

With roughly 4,000 children diagnosed yearly, pediatric brain tumors are consistently the most common type of pediatric solid tumor, second only to leukemia in pediatric malignancies. At the urging of Linguraru and one of his peers at the Children’s Hospital of Philadelphia, pediatric data was included in the international competition for the first time, helping to ensure that children are represented in medical and technological advances.

The contest required participants to use data from multiple institutions and consortia to test competing methods fairly. The Children’s National team created a method to tap into the power of two types of imaging and machine learning: 3D convolutional neural network and 3D Vision Transformer-based deep learning models. They identified regions of the brain affected by tumors, made shrewd data-processing decisions driven by the team’s experience in AI for pediatric healthcare and achieved state-of-the-art results.

The competition drew 18 teams who are leaders from across the AI and machine learning community. The runner-up teams were from NVIDIA and the University of Electronic Science and Technology of China.

The big picture

“Children’s National has an all-star lineup, and I am thrilled to see our scientists recognized on an international stage,” said interim Executive Vice President and Chief Academic Officer Catherine Bollard, M.D., M.B.Ch.B., director of the Center for Cancer for Immunology Research. “As we work to attack brain tumors from multiple angles, we continue to show our exceptional ability to create new and better tools for diagnosing, imaging and treating these devastating tumors.”

Patient and doctor demoing Rare-CAP technology

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

October 13, 2023

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.”

Imaging reveals altered brain chemistry of babies with CHD

October 9, 2023

Researchers at Children’s National Hospital used magnetic resonance spectroscopy to find new biomarkers that reveal how congenital heart disease (CHD) changes an unborn baby’s brain chemistry, providing early clues that could someday guide treatment decisions for babies facing lifelong health challenges.

Published in the Journal of the American College of Cardiology, the findings detail the ways that heart defects disrupt metabolic processes in the developing brain, especially during the third trimester of pregnancy when babies grow exponentially.

“Over the past decade, our team has been at the forefront of developing safe and sophisticated ways to measure and monitor fetal brain health in the womb,” said Catherine Limperopoulos, Ph.D., director of the Center for Prenatal, Neonatal and Maternal Health Research at Children’s National. “By tapping into the power of advanced imaging, we were able to measure certain maturational components of the brain to find early biomarkers for newborns who are going to struggle immediately after birth.”

The fine print

In one of the largest cohorts of CHD patients assembled to date, researchers at Children’s National studied the developing brains of 221 healthy unborn babies and 112 with CHD using magnetic resonance spectroscopy, a noninvasive diagnostic test that can examine chemical changes in the brain. They found:

Those with CHD had higher levels of choline and lower levels of N-Acetyl aspartate-to-choline ratios compared to healthy babies, potentially representing disrupted brain development.
Babies with more complex CHD also had higher levels of cerebral lactate compared to babies with two ventricle CHD. Lactate, in particular, is a worrying signal of oxygen deprivation.

Specifically, elevated lactate levels were notably increased in babies with two types of heart defects: transposition of the great arteries, a birth defect in which the two main arteries carrying blood from the heart are switched in position, and single ventricle CHD, a birth defect causing one chamber to be smaller, underdeveloped or missing a valve. These critical heart defects generally require babies to undergo heart surgery not long after birth. The elevated lactate levels also were associated with an increased risk of death, highlighting the urgency needed for timely and effective interventions.

The research suggests that this type of imaging can provide a roadmap for further investigation and hope that medicine will someday be able to better plan for the care of these children immediately after their delivery. “With important clues about how a fetus is growing and developing, we can provide better care to help these children not only survive, but thrive, in the newborn period and beyond,” said Nickie Andescavage, M.D., Children’s National neonatologist and first author on the paper.

The big picture

CHD is the most common birth defect in the United States, affecting about 1% of all children born or roughly 40,000 babies each year. While these defects can be fatal, babies who survive are known to be at significantly higher risk of lifelong neurological deficits, including lower cognitive function, poor social interaction, inattention and impulsivity. The impact can also be felt in other organ systems because their hearts did not pump blood efficiently to support development.

Yet researchers are only beginning to pinpoint the biomarkers that can provide information about which babies are going to struggle most and require higher levels of care. The National Institutes of Health (NIH) and the District of Columbia Intellectual and Developmental Disabilities Research Center supported the research at Children’s National to improve this understanding.

“For many years we have known that the brains of children with severe heart problems do not always develop normally, but new research shows that abnormal function occurs already in the fetus,” said Kathleen N. Fenton, M.D., M.S., chief of the Advanced Technologies and Surgery Branch in the Division of Cardiovascular Sciences at the National Heart, Lung, and Blood Institute (NHLBI). “Understanding how the development and function of the brain is already different before a baby with a heart defect is born will help us to intervene with personal treatment as early as possible, perhaps even prenatally, and improve outcomes.”

Note: This research and content are solely the responsibility of the authors and do not necessarily represent the official views of the NIH. The NIH provided support for this research through NHLBI grant R01HL116585 and the Eunice Kennedy Shriver National Institute of Child Health and Human Development grant P50HD105328.

Using a multisystem approach to improve access to autism care in Washington, D.C.

October 5, 2023

Children with autism face significant barriers to accessing evaluations and intervention services.

An article in the journal Pediatrics reviews the outcomes from a collective, targeted advocacy approach to improving access to autism supports and resources for children and their families in Washington, D.C. The effort was led by Children’s National Hospital and engaged a multidisciplinary team from within the hospital and across a wide range of community sectors.

What this means

Children’s National and DC Autism Parents worked collaboratively with a coalition of organizations from the broader District of Columbia community to address some of the biggest challenges and barriers that prevent autistic children and their families from receiving the resources and support they need in the nation’s capital.

Why it matters

Children with autism face significant barriers to accessing evaluations and intervention services often because of confusing referral processes, lack of centralized coordination across organizations serving children with autism, insurance coverage gaps, multiyear waitlists for diagnostic services and limited provider knowledge about autism. Racism and systemic inequities also persist in autism care across the United States.

Long and growing wait times in autism diagnostic clinics and lack of centralized care coordination for autistic children are prevalent across the District of Columbia, and as a result, many children and families in the region continue to lack access to the support they need.

What’s unique

The study describes multiyear efforts (2017–2022) to improve autism care throughout the District of Columbia using a collective impact framework to unite organizations from different sectors. This approach features the creation of a common agenda (including defining goals and priorities), shared measurement, mutually reinforcing activities, continuous communication and infrastructure support.

Together, the group members sought to address barriers and overcome challenges at multiple levels of the healthcare system at the same time by focusing advocacy in three specific areas:

Infrastructure-building initiatives/system-level approaches.
Population- and community-level services to build capacity and connect providers and families to needed resources.
Direct services that provide innovative, gap-filling supports to children and families as a stopgap until the necessary supports can be more sustainably provided across the board.

Bottom line

While more work is needed to continue expanding the availability of needed services, the findings from this initial effort can inform the next steps in Washington, D.C., and serve as a model for a collective framework approach for autism services in other parts of the United States.

You can read the full study “A Multisystem Approach to Improving Autism Care” in the journal Pediatrics.

More information and resources about these autism initiatives can be found at:

Children’s National announces new professorships

October 2, 2023

Robert Keating, M.D., Brian Rood, M.D., and Catherine Bollard, M.D., M.B.Ch.B.

Children’s National Hospital named Robert Keating, M.D., as the McCullough Distinguished Professor of Neurosurgery. He serves as the chief of neurosurgery and co-director of the high-intensity focused ultrasound (HIFU) program at Children’s National.

Children’s National Hospital named Brian Rood, M.D., as the Kurt D. Newman, M.D., Professor of Neuro-Oncology. He serves as director of clinical neuro-oncology and medical director of the Brain Tumor Institute at Children’s National.

Children’s National Hospital elevated Catherine Bollard, M.D., M.B.Ch.B., to the Dr. Robert J. and Florence T. Bosworth Distinguished Professor of Cancer and Transplantation Biology Research. She is the Interim Executive Vice President and Chief Academic Officer and Interim Director, Children’s National Research Institute. She also serves as the director of the Center for Cancer and Immunology Research and director of the Program for Cell Enhancement and Technologies for Immunotherapy at Children’s National.

About the awards

Professorships at Children’s National support groundbreaking work on behalf of children and their families and foster new discoveries and innovations in pediatric medicine. These appointments carry prestige and honor that reflect the recipient’s achievements and donor’s forethought to advance and sustain knowledge. Children’s National is grateful for its generous donors, who have funded 47 professorships.

Dr. Keating is a longstanding leader in neurosurgery research and care. His areas of expertise include brain tumors, traumatic brain injuries, craniofacial anomalies, Chiari malformations and spinal dysraphism. With Dr. Keating’s leadership, the neurosurgery department is pioneering innovations such as HIFU, a non-invasive therapy using focused ultrasound waves to ablate a focal area of tissue. It can treat tumors located in difficult locations of the brain, movement disorders and epilepsy. Children’s National was one of the first pediatric hospitals in the nation to use HIFU for neuro-oncology patients.

“Our goal is to elevate our top-ranked program to even greater heights,” says Dr. Keating. “We will continue to use cutting-edge technology and non-invasive approaches to make the knife obsolete in pediatric neurosurgery and improve outcomes for children.”

Dr. Rood studies the biology of pediatric brain tumors. He focuses on protein signatures and biomarkers specific to different types of brain cancers. His study of neoantigens is informing the development of T-cell immunotherapies to target a tumor’s unique proteins.

“Immunotherapy is revolutionizing how we treat childhood brain tumors — safely, effectively and with the precision made possible by using a patient’s own cells,” says Dr. Rood. “This professorship enables our team to advance this revolution, which will save lives and improve lifetimes.”

Dr. Bollard received the Dr. Robert J. and Florence T. Bosworth Professor of Cancer and Transplantation Biology Research in 2018 to support her work to develop cell and gene therapies for patients with cancer and underlying immune deficiencies. Her professorship has been elevated to a distinguished professorship to amplify her research and celebrate her accomplishments in the field of immunotherapy.

About the donor

These appointments were made possible through an extraordinary $96 million investment from an anonymous donor family for rare pediatric brain tumor research and care. It is one of the hospital’s largest donations and will transform the hospital’s ability to give patients with rare brain cancer a better chance at healthy lifetimes.

The anonymous family brings a depth of compassion for children facing rare and often challenging diagnoses. Their partnership will immediately advance every aspect of our globally recognized leadership to create new, more effective treatments.

Their investment also endowed the Professorship in Molecular Neuropathology. We look forward to bestowing that honor on a Children’s National pediatric leader.

Andrea L. Gropman, M.D., FAAP, FACMG, FANA, named as the Margaret O’Malley Professor of Genetic Medicine

September 25, 2023

Children’s National Hospital named Andrea L. Gropman, M.D., FAAP, FACMG, FANA, as the Margaret O’Malley Professor of Genetic Medicine at Children’s National Hospital.

Dr. Gropman serves as Chief of the Division of Neurogenetics and Developmental Pediatrics at Children’s National Hospital. She is also a Professor of Pediatrics and Professor of Neurology at George Washington School of Medicine and Health Sciences.

About the award

Dr. Gropman joins a distinguished group of Children’s National physicians and scientists who hold an endowed chair. The Margaret O’Malley Professor of Genetic Medicine is one of 47 endowed chairs at Children’s National.

Professorships support groundbreaking work on behalf of children and their families and foster new discoveries and innovations in pediatric medicine. These appointments carry prestige and honor that reflect the recipient’s achievements and donor’s forethought to advance and sustain knowledge.

Dr. Gropman’s research focuses on neuroimaging, inborn errors of metabolism such as urea cycle disorders and mitochondrial disorders, and neurogenetics. She is the principal investigator of the Urea Cycle Disorders Consortium (UCDC) and the UCDC imaging consortium. She is the deputy clinical director of the Mito EpiGen Program.

Thomas and Mary Alice O’Malley, through their vision and generosity, are ensuring that Dr. Gropman and future holders of this professorship will launch bold, new initiatives to rapidly advance the field of pediatric genetic medicine, elevate our leadership and improve the lifetimes of children with genetic diseases.

About the donors

Tom and Mary Alice O’Malley have partnered with Children’s National to improve the lives of patients with urea cycles disorders for more than two decades. In 2003, their transformational philanthropy helped launch the Urea Cycle Disorders Consortium. This pioneering network grew to include 16-sites worldwide. It garnered 20 years of funding from the NIH’s Rare Diseases Clinical Research Network — the only center to sustain continuous funding over this period. This consortium’s research has yielded multiple effective treatment strategies, including government approval of three lifesaving therapies.

“The O’Malley family’s steadfast generosity helped us grow into the robust community of investigators and families we are today,” says Dr. Gropman. “They transformed care for UCD patients everywhere.”

A destination for pediatric oncology care: Children’s National Hospital’s T-cell therapy trials

September 19, 2023

When children are diagnosed with pediatric cancer, most doctors are forced to reach for the same standard therapies that were available decades ago. Research oncologists at Children’s National Hospital are changing that with clinical trials that will hopefully train the body’s immune system – specifically its T cells – to fight the tumors.

Holly Meany, M.D., and her colleague Amy Hont, M.D., oncologists and research scientists at the Center for Cancer and Immunology Research, have put together a pair of clinical trials that are investigating two pathways for using T cells to go after solid tumors.

“At Children’s National, we have a novel immunotherapy to offer to patients with relapsed or refractory solid tumors,” said Meany, director of the Solid Tumor Program. “This is a patient population who has failed standard therapy, so new technologies and treatments are always needed in this group.”

Where we started

Meany’s trial laid the foundation. She began the center’s research using a patient’s own blood sample to develop a targeted therapy and evaluate the safety and efficacy of this approach. In her study, scientists isolated the T cells, grew millions in a lab and reinfused them into the patient. The cells were replicated in an environment that was rich in three proteins that are commonly found on the surface of solid tumor cancer cells.

“Our hope and hypothesis are that when we give the T cells back to the patient, those T cells circulate and hunt down the cancer cells that have the tumor proteins,” Meany said. “We are hoping to use the patient’s own immune system to attack the cancer in an enduring way.”

Where we are headed

Hont’s phase 1 trial, which is currently recruiting participants, builds on Meany’s work using a healthy donor whose T cells have not been impacted by chemotherapy or other treatments. The cells can be prepared, stored and readily available for patients who need them. They are also matched through specific proteins on the patient’s own cells to bolster their effectiveness. The participants in this trial have Wilms tumors, rhabdomyosarcoma, neurosarcoma, soft tissue sarcoma or neuroblastoma, but conventional therapies including chemotherapy, radiation or surgery were unable to fully treat the disease.

In both studies, Hont said that the T cells have been given in an outpatient setting with fewer side effects compared to other cancer treatments aimed at high-risk malignancies.

“This allows patients to really maintain a good quality of life during a particularly hard time,” Hont said. “Also, these T cells are designed to act in the body the way that our immune system acts in a physiologic way. This means patients typically don’t have the severe side effects that we think of with chemotherapy or other therapies.”

Children’s National leads the way

The team at Children’s National is one of the few in the country to offer this kind of T-cell therapy for solid tumors. “Immunotherapy has been challenging for this patient population because the tumors are adept at finding out ways to evade treatment,” Hont said. “Giving patients a chance to receive a targeted T-cell therapy, while also maintaining a high quality of life, is something that’s special here.”

Researchers publish first-ever atlas of cancerous mutations in histones

September 12, 2023

Leading genetic researchers at Children’s National Hospital have published the first pan-cancer atlas of key mutations that can drive molecular changes leading to tumors, creating a roadmap that could lead to new treatments for brain tumors and other cancers.

The research – published in npj Genomic Medicine – presents the first-of-its-kind atlas of histone mutations across pediatric, adolescent/young adult and adult cancers. The novel genetic work offers a framework allowing specific cancers to be redefined in the context of changes in histones, which are essential proteins that provide the structural support for chromosomes.

The big picture

“One of the major challenges that we face every day with pediatric, aggressive tumors, including pediatric high-grade gliomas, is that these tumors grow fast. Doctors often have to give patients 9 to 12 months from diagnosis,” said Javed Nazarian, Ph.D., scientific director of the Brain Tumor Institute at Children’s National and principal investigator at the Center for Genetic Medicine Research. “Children’s National has put together a team of clinicians that are truly devoted to finding a therapy for pediatric high-grade gliomas and aggressive pediatric brain tumors. Our dedicated team empowers translational research, from bench to bedside and reverse translation.”

In 2023, the American Cancer Society estimates that 9,910 children under age 15 will be diagnosed with cancer, making it the second leading cause of death among children. Because of treatment advances, 85% will survive, but many will be left with lifelong disabilities from their treatment. Nazarian and his team believe that identifying the underlying molecular alterations leading to cancers will be essential to finding new therapies that extend life expectancies and preserve quality of life.

The fine print

Histones are essential cellular structures, which prevent DNA from getting tangled. Nazarian and other researchers are investigating whether errors in histones could lead to cancers, including high-grade gliomas and other particularly sinister tumors that can strike young children. By mapping the mutations of the histone-encoding genes, Nazarian and his team believe they can find the drivers of tumors in many pediatric and adult cancers. In studying more than 12,000 tumors for the pan-cancer atlas, they cataloged patient ages, survival outcomes and tumor locations to reveal important trends among different cancers.

Overall, the team found that 11% of tumors had somatic histone mutations, with the highest rates observed among chondrosarcoma, a type of bone cancer (67%); pediatric high-grade glioma, a type of cancer that attacks glial cells in the brain and spinal cord (>60%); and lymphoma, a category of cancers in the lymph system (>30%).

“I think one implication of our study is that we are looking at the epigenomic changes of these mutations in a new light,” Nazarian said. “These mutations are not just specific to a particular tumor type, but they are indeed across a large spectrum of cancer types, and they come in different flavors that could potentially show a new avenue for treatments.”

“Mask up!” Soon, AI may be prompting healthcare workers

September 6, 2023

Researchers at Children’s National Hospital are embarking on an effort to deploy computer vision and artificial intelligence (AI) to ensure medical professionals appropriately use personal protective equipment (PPE). This strikingly common problem touches almost every medical specialty and setting.

With nearly $2.2 million in grants from the National Institutes of Health, the team is combining their expertise with information scientists at Drexel University and engineers at Rutgers University to build a system that will alert doctors, nurses and other medical professionals of mistakes in how they are wearing their PPE. The goal is to better protect healthcare workers (HCWs) from dangerous viruses and bacteria that they may encounter — an issue laid bare with the COVID-19 pandemic and PPE shortages.

“If any kind of healthcare setting says they don’t have a problem with PPE non-adherence, it’s because they’re not monitoring it,” said Randall Burd, M.D., Ph.D., division chief of Trauma and Burn Surgery at Children’s National and the principal investigator on the project. “We need to solve this problem, so the medical community will be prepared for the next potential disaster that we might face.”

The big picture

The World Health Organization has estimated that between 80,000 and 180,000 HCWs died globally from COVID-19 between January 2020 and May 2021 — an irreplaceable loss of life that created significant gaps in the pandemic response. Research has shown that HCWs had an 11-fold greater infection risk than the workers in other professions, and those who were not wearing appropriate PPE had a 1/3 higher infection risk, compared to peers who followed best practices.

Burd said the Centers for Disease Control and Prevention has recommended that hospitals task observers to stand in the corner with a clipboard to watch clinicians work and confirm that they are being mindful of their PPE. However, “that’s just not scalable,” he said. “You can’t always have someone watching, especially when you may have 50 people in and out of an operating room on a challenging case. On top of that, the observers are generally trained clinicians who could be filling other roles.”

What’s ahead

Bringing together the engineering talents at Drexel and Rutgers with the clinical and machine-learning expertise at Children’s National, the researchers plan to build a computer-vision system that will watch whether HCWs are properly wearing PPE such as gloves, masks, eyewear, gowns and shoe covers.

The team is contemplating how the system will alert HCWs to any errors and is considering haptic watch alerts and other types of immediate feedback. The emerging power of AI brings tremendous advantages over the current, human-driven systems, said Marius George Linguraru, D.Phil., M.A., M.Sc., the Connor Family Professor in Research and Innovation at Children’s National and principal investigator in the Sheikh Zayed Institute for Pediatric Surgical Innovation.

“Human observers only have one pair of eyes and may fatigue or get distracted,” Linguraru said. “Yet artificial intelligence, and computers in general, work without getting tired. We are excited to figure out how a computer can do this work – without ever blinking.”

Children’s National Hospital leads the way

Linguraru says that Children’s National and its partners make up the ideal team to tackle this vexing challenge because of their ability to assemble a multidisciplinary team of scientists and engineers who can work together with clinicians. “This is a dialogue,” he said. “A computer scientist, like myself, needs to understand the intricacies of complicated clinical realities, while a clinician needs to understand how AI can impact the practice of medicine. The team we are bringing together is intentional and poised to fix this problem.”

Cell therapy mitigates neurological impacts of cardiac surgery in pre-clinical model

September 6, 2023

Differences of cortical fractional anisotropy between cardiopulmonary bypass and control (left), cardiopulmonary bypass + mesenchymal stromal cells and cardiopulmonary bypass (center), and 3 groups (right).

A pre-clinical study in the journal JACC: Basic to Translational Science shows that infusing bone marrow-derived mesenchymal stromal cells (BM-MSCs) during cardiac surgery provides both cellular-level neuroprotection for the developing brain and improvements in behavior alterations after (or resulting from) surgery.

What this means

According to lead author Nobuyuki Ishibashi, M.D., Oxidative and inflammatory stresses that are thought to be related to cardiopulmonary bypass cause prolonged microglia activation and cortical dysmaturation in the neonatal and infant brain. These issues are a known contributor to neurodevelopmental impairments in children with congenital heart disease.

This study found that, in a pre-clinical model, the innovative use of cardiopulmonary bypass to deliver these mesenchymal stromal cells minimizes microglial activation and neuronal apoptosis (cell death), with subsequent improvement of cortical dysmaturation and behavioral alteration after neonatal cardiac surgery.

Additionally, the authors note that further transcriptomic analyses provided a possible mechanism for the success: Exosome-derived miRNAs such as miR-21-5p, which may be key drivers of the suppressed apoptosis and STAT3-mediated microglial activation observed following BM-MSC infusion.

Why it matters

Significant neurological delay is emerging as one of the most important current challenges for children with congenital heart disease, yet few treatment options are currently available.

Applications of BM-MSC treatment will provide a new therapeutic paradigm for potential MSC-based therapies as a form of neuroprotection in children with congenital heart disease.

Children’s National Hospital leads the way

The Ishibashi lab is the first research team to demonstrate the safety, efficacy and utility of using cardiopulmonary bypass to deliver BM-MSCs with the goal of improving neurological impairments in children undergoing surgery for congenital heart disease. In addition to this pre-clinical research, a phase 1 clinical trial, MeDCaP, is underway at Children’s National.

Recent additional funding from the NIH will allow the team to identify molecular signatures of BM-MSC treatment and mine specific BM-MSC exosomes for unique cardiopulmonary bypass pathology to further increase understanding of precisely how and why this cell-based treatment shows success.

Children’s National joins team to use AI to expand health knowledge in Kenya

August 16, 2023

Marius Linguraru, D.Phil., M.A., M.Sc., a co-principal investigator for the project, presents Children’s National Hospital is joining a team of global health researchers to use large language models (LLMs) like ChatGPT to help Kenyan youth learn about their health and adopt lifestyles that may prevent cancer, diabetes and other non-communicable diseases.

The work, which is one of nearly 50 Grand Challenges Catalyzing Equitable Artificial Intelligence (AI) Use grants announced by the Bill & Melinda Gates Foundation, will harness the emerging power of AI to empower young people with information that they can carry through adulthood to reduce rates of unhealthy behaviors including physical inactivity, unhealthy diet and use of tobacco and alcohol.

“We are thrilled to be part of this effort to bring our AI expertise closer to young patients who would benefit dramatically from technology and health information,” said Marius George Linguraru, D.Phil., M.A., M.Sc., a co-principal investigator for the project, the Connor Family Professor in Research and Innovation at Children’s National and principal investigator in the Sheikh Zayed Institute for Pediatric Surgical Innovation. “Using generative AI, we will build an application to enhance the knowledge, attitudes and healthy habits of Kenyan youth and use this as a foundation to improve health inequities around the globe.”

Why it matters

A lower middle-income country located on the east coast of Sub-Saharan Africa, Kenya is home to 50 million people and one of the continent’s fastest-growing economies. English is one of Kenya’s official languages, and the country has been recognized as a technology leader in Africa, with 82% of Kenyans having phone connectivity. Taken together, these factors make the country an ideal location to deploy an LLM-based platform designed to improve health information and attitudes.

The Gates Foundation selected this project from more than 1,300 grant applications. The nearly 50 funded projects are aimed at supporting low- and middle-income countries to harness the power of AI for good and help countries participate in the AI development process. The project’s findings will contribute to building an evidence base for testing LLMs that can fill wide gaps in access and equitable use of these tools. Each of the grants provides an opportunity to mitigate challenges experienced by communities, researchers and governments.

What’s next

The project development will be led by the National Cancer Institute of Kenya, with Linguraru and other global experts advising the effort from Kenyan institutions and Stanford University. Researchers plan to enroll youth from universities, shopping malls, markets, sporting events and other high-traffic locations. The study will look at participants’ risk factors and how their attitudes toward healthier lifestyles changed after engaging with the new LLM platform.

“The team is thrilled to be selected as one of the nearly 50 most promising AI proposals in the Gates Foundation Grand Challenge competition, and we look forward to seeing how our work can benefit the health of Kenyan youth,” said Dr. Martin Mwangi, principal investigator for the project and head of the Cancer Prevention and Control Directorate at the National Cancer Institute of Kenya. “If successful, we hope to share this model and the expertise we gain to expand health equity and knowledge to other regions.”

JAMA Pediatrics editorial: A better approach for newborn screening

August 7, 2023

The medical community has an opportunity to update its approach to newborn screening (NBS) to be prepared for emerging technological advancements that will help diagnose children with rare diseases from their first weeks of life, according to an editorial from a leading Children’s National Hospital researcher published in JAMA Pediatrics.

“In health care, we are seeing ways in which we can identify more children who have rare diseases even earlier, in the newborn period, rather than waiting for children to develop symptoms or experience irreversible changes,” said Beth Tarini, M.D., M.S., M.B.A., associate director of the Center for Translational Research. “We have continued innovations in screening technology – with more on the way – that can be added to the screening programs overseen by all 50 states. Updating how we approach newborn screening presents an incredible opportunity for doctors and their patient-families.”

Why it matters

Newborn screening happens before the baby leaves the hospital, generally with a prick of the heel to take a small sample of blood to look for several dozen rare, debilitating disorders such as sickle cell disease, congenital hypothyroidism and cystic fibrosis. The current screening system has grown successfully for roughly 60 years and creates a network of state programs. Along the way, researchers have had extensive debates about which disorders to include, based on whether there are treatments and options for patients.

Dr. Tarini, a pediatrician who has done extensive research on NBS and related policies, said that the existing screening programs across all 50 states should be modernized, with federal research support and funding, to create a unified “learning newborn screening system” that derives information from the 4 million babies born each year and provides feedback to the medical community about best practices for babies who are diagnosed with a rare disease or at risk for developing one.

“A new approach will require resources and infrastructure, but as the technology advances, we should change our system to leverage the experience of doctors, patients, and NBS programs across the country,” Dr. Tarini said. “We have the will, the experience and the ability to transform the care for children with rare disease.”

Read the full editorial in JAMA Pediatrics.