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News from the Rare Disease Institute

Using telehealth to revolutionize the speed of making rare disease diagnoses

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.

A Rare Response: Addressing the COVID-19 Pandemic (webinar)

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.

Children’s National Rare Disease Institute launches new mobile app, BearGenes

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.

NORD 2019 Rare Disease Summit set for Oct. 21-22 in Washington, D.C.

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.

Children's National genetic counselor, Kara Simpson, talks about helping kids with rare diseases

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.

Natashar Shur, M.D.Virtual visits: A new house call for rare disease treatment

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.

How telemedicine has become the new 'home visit' for Children's National genetics patients

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.

Local families find care and convenience in telemedicine

Children's National geneticist Natasha Shur, M.D., discusses the benefits of expanding care and reducing barriers to accessing medical assistance with telemedicine.

How a rare disease treatment could impact millions

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.

Facial analysis technology helps diagnose rare genetic 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.

Families of children with rare diseases more receptive to advanced care planning when provided in tandem with caregiver support

Caregivers for children with serious rare diseases are more open to these challenging discussions when caregiver needs assessments are integrated into the process.

Marshall SummarRare diseases expert discusses importance of involving patients in rare disease community

Marshall Summar, M.D., division chief of genetics and metabolism, speaks about the importance of involving patients in the field through patient registries.

Retrophin gift to establish Rare Disease Network at Children's National

The gift will support operations at the Children’s National Rare Disease Institute and promote the further research and study of rare diseases.