Rare Disease Day Television News Coverage
February 28th 2025 was National Rare Disease Day with several local stations covering the impact of Rare Diseases and the work of the Undiagnosed Disease Program. ABC WKOW 27 | Madison, WI WIFR News | …
After 14 years of searching family has diagnosis for son’s rare condition
MADISON, Wis. – Imagine experiencing your child born seemingly healthy, but then struggle to grow, walk, learn or talk – and not be able to tell what is causing it. Danelle McGuire felt this despair …
An oligogenic case of severe neonatal thrombocytopenia and a purportedly benign variant in GFI1B requiring reinterpretation
Max Frenkel 1 2, April Hall 3 4, M Stephen Meyn 3 4, Carol A Diamond 5 6 Abstract Although thrombocytopenia in neonatal intensive care patients is rarely due to inherited disorders, the number of genetic variants implicated in platelet defects has grown dramatically with increasing …
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon
Angelica Maria Delgado-Vega # 1 2, Helene Cederroth # 3, Fulya Taylan # 4 5, Katja Ekholm 4 5, Marlene Ek 4 5, Håkan Thonberg 4 5, Anders Jemt 6 7, Daniel Nilsson 4 8, Jesper Eisfeldt 4 8, Kristine Bilgrav Saether 8, Ida Höijer 9 10, Ozlem Akgun-Dogan 11 12 13, Yui Asano 14, Tahsin Stefan Barakat 15 16 17, Dominyka Batkovskyte 5, Gareth Baynam 18 19 20 21, Olaf Bodamer 22, Wanna Chetruengchai 23 24, Pádraic Corcoran 9 10, Madeline Couse 25, Daniel Danis 26, German Demidov 27, Eisuke Dohi 28, Mattias Erhardsson 29, Luis Fernandez-Luna 30, Toyofumi Fujiwara 31, Neha Garg 32, Roberto Giugliani 33 34 35 36, Claudia Gonzaga-Jauregui 30, Giedre Grigelioniene 4 5, Tudor Groza 18 37 38 39, Cecilia …
Sequence variants in HECTD1 result in a variable neurodevelopmental disorder
Gazelle Zerafati-Jahromi 1, Elias Oxman 2, Hieu D Hoang 3, Wu-Lin Charng 1, Tanvitha Kotla 3, Weimin Yuan 3, Keito Ishibashi 2, Sonia Sebaoui 4, Kathryn Luedtke 2, Bryce Winrow 2, Rebecca D Ganetzky 5, Anna Ruiz 6, Carmen Manso-Basúz 6, Nino Spataro 6, Peter Kannu 7, Taryn Athey 7, Christina Peroutka 8, Caitlin Barnes 8, Richard Sidlow 9, George Anadiotis 10, Kari Magnussen 10, Irene Valenzuela 11, Alejandro Moles-Fernandez 11, Seth Berger 12, Christina L Grant 12, Eric Vilain 13, Gudny A Arnadottir 14, Patrick Sulem 14, Telma S Sulem 14, Kari …
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