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Category: rare genetic disorders

Researchers identify genetic changes responsible for rare childhood immune disorders

Researchers identify genetic changes responsible for rare childhood immune disorders
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Affecting the immune system, various forms of SCID are estimated to affect one in 75,000 to 100,000 newborns

May 30, 2024 Great North Children's Hospital, Newcastle University, News, NUDCD3, Omenn syndrome, rare genetic disorders, severe cobined immunodeficiency, Wellcome Sanger Institute

MHRA approves Marinus Pharmaceuticals’ Ztalmy for CDKL5 deficiency disorder

The rare epileptic seizure disorder currently affects around one in 42,000 people in the UK

March 8, 2024 cyclin-dependant kinase-like deficiency disorder, ganaxolone, Marigold, Marinus Pharmaceuticals, Medicines and Healthcare products Regulatory Agency, News, rare genetic disorders, Ztalmy
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