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Learn About Newborn Screening
The genetics team at Children's National uses our resources and medical expertise to help families with genetic screenings for newborns.
Two Rare Disease Institute physicians were named to the list – Jamie Fraser, M.D., Ph.D., and Kenneth Rosenbaum, M.D.
Marshall Summar, M.D., director of the Rare Disease Institute at Children's National Hospital, discussed the hospital's telehealth program and its telegenetic consultation pilot program with Microsoft.
Watch a special webinar about COVID-19 featuring Marshall Summar, M.D., division chief of genetics and metabolism at Children's National Hospital. The webinar, hosted by the National Organization for Rare Disorders, provides critical guidance on living with a rare disease and maintaining your physical and mental health in the time of COVID-19.
BearGenes, which houses short educational videos presented by our genetic counselors and a clinical geneticist, was designed to provide patients and families with a convenient genetics resource available outside of the clinic setting. The ability to review topics at home at a convenient time allows families with children requiring complex care to better focus on the content, away from the busy and often distracting clinic setting.
Marshall Summar, M.D., division chief of genetics and metabolism at Children's National Hospital, shared details about the upcoming National Organization for Rare Disorders (NORD) conference taking place in October.
News4's Pat Lawson Muse discusses rare disease care for children with Patricia A. Redding, CEO and founder of Rare Kids Network, and Kara L. Simpson, genetic counselor, at the Children's National Rare Disease Institute.
Natasha Shur, M.D., a medical geneticist at Children’s National, simplified the process for families to get care from their health care providers by using virtual visits, including one young patient who had challenges with in-person visits. The change has made medical care easier for patients and families.
Natasha Shur, M.D., a clinical geneticist at Children's National, is spearheading a new telemedicine program for pediatric patients who have genetic or rare conditions.
Children's National geneticist Natasha Shur, M.D., discusses the benefits of expanding care and reducing barriers to accessing medical assistance with telemedicine.
Learn about how developing more targeted therapies for GACI could reduce morbidity for many patients, both children with GACI and potentially also patients affected by chronic kidney disease.
Researchers in the Sheikh Zayed Institute for Pediatric Surgical Innovation have developed a facial analysis software that can assist clinicians in making accurate diagnoses.
Caregivers for children with serious rare diseases are more open to these challenging discussions when caregiver needs assessments are integrated into the process.
Marshall Summar, M.D., division chief of genetics and metabolism, speaks about the importance of involving patients in the field through patient registries.
The gift will support operations at the Children’s National Rare Disease Institute and promote the further research and study of rare diseases.