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Despite incredible advances in the recruitment and phenotyping of patients for genomewide association studies (GWAS) in the past decade, the ability to ascertain the caus [...]

Despite their devastating impacts on millions of people, most rare and congenital disorders remain poorly understood, leaving the patients with these disorders with no FD [...]

Long-chain 3-Hydroxyacyl CoA Dehydrogenase Deficiency (LCHADD) is an autosomal recessive defect in fatty acid oxidation that presents with hypoketotic hypoglycemia and/or [...]

Pityriasis rubra pilaris (PRP) is a rare inflammatory cutaneous condition characterized by widespread erythematous scaly plaques and palmoplantar keratoderma. PRP skin in [...]