News from the Rare Disease Institute
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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.
Ryan Alam, a high school junior who receives care at Children's National Hospital for an extremely rare neurodegenerative disease, took to the skies and soared with a member of the U.S. Army Parachute Team, the Golden Knights.
A five-year commitment from Takeda will help Children’s National launch a first-of-its-kind rare disease clinical protocol program.
The National Organization of Rare Disorders calls this year's class of its Rare Impact Award honorees "a strong, inspiring group, each making an impact on the lives of the rare community in a different way." Dr. Shur works in Children's National Rare Disease Institute.
On October 8 and 9, 2020, the NORD Breakthrough Summit connected stakeholders from across the rare disease space to advance meaningful dialogue with an aim to improve the lives of over 25 million Americans living with rare diseases.
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.
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Meet Kenneth Rosenbaum, M.D.
Dr. Rosenbaum is a medical geneticist who has been a member of our Children’s National Hospital community since 1971.
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.
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