Rare Disease News and Research

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Children's Tumor Foundation harnesses interest in rare disease research through NF Innovation Week

Children's Tumor Foundation harnesses interest in rare disease research through NF Innovation Week

LMRI scientists discover cause of debilitating eye disease

LMRI scientists discover cause of debilitating eye disease

FDA approves first drug to treat patients with rare lung condition

FDA approves first drug to treat patients with rare lung condition

Apathy can be used as biomarker of Huntington's disease progression

Apathy can be used as biomarker of Huntington's disease progression

Discover the latest advances in neuromuscular therapeutics at NMD 2019

Discover the latest advances in neuromuscular therapeutics at NMD 2019

Price of snakebite drug is sky high, but new competitor unlikely to lower costs

Price of snakebite drug is sky high, but new competitor unlikely to lower costs

FDA approves first therapy for symptomatic tenosynovial giant cell tumor

FDA approves first therapy for symptomatic tenosynovial giant cell tumor

Genetic mutations link rare skin disorder and non-alcoholic fatty liver disease

Genetic mutations link rare skin disorder and non-alcoholic fatty liver disease

Novel therapeutic strategy for treating Lafora Disease shows promise in preclinical study

Novel therapeutic strategy for treating Lafora Disease shows promise in preclinical study

UV-DDB protein scouts DNA damage and oversees repair

UV-DDB protein scouts DNA damage and oversees repair

Researchers reveal molecular cause for severe multi-organ disorder

Researchers reveal molecular cause for severe multi-organ disorder

Fungal infection study identifies specific genetic vulnerability among Hmong people

Fungal infection study identifies specific genetic vulnerability among Hmong people

Gene mutation discovery leads to novel treatment for patient with severe lymphatic condition

Gene mutation discovery leads to novel treatment for patient with severe lymphatic condition

FDA approves first drug for treatment of neuromyelitis optica spectrum disorder

FDA approves first drug for treatment of neuromyelitis optica spectrum disorder

Scientists pinpoint cause of fatal respiratory disorder that turns babies' lips and skin blue

Scientists pinpoint cause of fatal respiratory disorder that turns babies' lips and skin blue

Researchers identify genes linked with survival in children with biliary atresia

Researchers identify genes linked with survival in children with biliary atresia

Study uncovers potential modifier genes in patients with Charcot-Marie-Tooth disease

Study uncovers potential modifier genes in patients with Charcot-Marie-Tooth disease

CZI announces new program to drive progress in the fight against rare diseases

CZI announces new program to drive progress in the fight against rare diseases

Polygenic risk scores based on entire genome sequence may reliably predict heart disease

Polygenic risk scores based on entire genome sequence may reliably predict heart disease

Study suggests therapeutic solutions for pantothenate kinase-associated neurodegeneration

Study suggests therapeutic solutions for pantothenate kinase-associated neurodegeneration