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Research Interest Alpha-1 Antitrypsin Deficiency ALS Canavan Disease CDKL5 Disorder Chronic Granulomatous Cystic Fibrosis Down Syndrome Facioscapulohumeral Muscular Dystrophy Fanconi Anemia Fragile X Syndrome Friedreich’s Ataxia Frontotemporal Dementia Gaucher Disease Huntington’s Disease Metabolic Diseases Retinitis Pigmentosa Rett Syndrome Severe Chronic Neutropenia Tay Sachs

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