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Gene therapy offers hope for Danish girl, but uncertainty lies ahead

12:12 pm UTC Apr. 25, 2021 BOSTON Thomas Feldborg and Daria Rokina set off nearly every afternoon to explore this city. They leave from their hotel in the Charlestown neighborhood, pushing their baby carriage, some days heading deep into downtown, others choosing a path along the Charles River.  Every few minutes, Rokina stops to peek inside and check on 16-month-old Alissa. She gently rubs Alissa s cheek and coos a few soothing words, making sure the little girl is warm enough in her yellow snowsuit and adjusting her sparkly unicorn earmuffs.  Alissa rests better in the outside air. The daily walks allow the couple to relieve some of the stress of not knowing whether their daughter will survive

Gene therapy offers hope for Danish girl, but uncertainty lies ahead

Gene therapy offers hope for Danish girl, but uncertainty lies ahead
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Detecting rare disease: Revealing the methods, motivations, and implications

Washington, DC Dr. Summar is well-known for his pioneering work in caring for children diagnosed with rare diseases. He came to Children’s National Hospital in Washington, DC, in 2010 from Vanderbilt University and holds board certifications in both pediatrics and clinical genetics as well as biochemical genetics. At Children’s National, he leads the Division of Genetics and Metabolism, currently the largest clinical division of its kind in the world, overseeing 8,000 patients a year with rare diseases. His laboratory works on both devices and treatments for patients with genetic diseases while also supporting advancements in mainstream medicine through education about these disorders. His work has resulted in new drugs in U.S. Food and Drug Administration trials for patients with congenital heart disease and premature birth. Dr. Summar holds more than 60 patents and has published more than 160 peer-reviewed research studies. He developed and launched the world’s first Rare Di

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