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Critical Path Institute and global partners establish Ataxia Consortium

Critical Path Institute and global partners establish Ataxia Consortium

A missing protein explains the appearance of tumor cells in people with Mulibrey syndrome

A missing protein explains the appearance of tumor cells in people with Mulibrey syndrome

World-leading research institutions join forces to find better treatments for pediatric diseases

World-leading research institutions join forces to find better treatments for pediatric diseases

Rare Disease Day 2021: Raising awareness of childhood dementia

Rare Disease Day 2021: Raising awareness of childhood dementia

Scientists discover two unique subtypes of a prominent mutation in patients with AML

Scientists discover two unique subtypes of a prominent mutation in patients with AML

Genetic testing technology wrongly detects the presence of very rare genetic variants

Genetic testing technology wrongly detects the presence of very rare genetic variants

Variants of nine genes induce a higher risk of developing Addison's disease

Variants of nine genes induce a higher risk of developing Addison's disease

Spark Therapeutics launches gene therapy clinical trial for late-onset Pompe disease

Spark Therapeutics launches gene therapy clinical trial for late-onset Pompe disease

Protein alteration contributes to degeneration of neuronal populations in Huntington's disease

Protein alteration contributes to degeneration of neuronal populations in Huntington's disease

Researchers release first Japanese reference genome

Researchers release first Japanese reference genome

NEI scientists develop and test a promising gene therapy strategy for rare eye disease

NEI scientists develop and test a promising gene therapy strategy for rare eye disease

Systemic lupus erythematosus disproportionately affects ethnic female population

Systemic lupus erythematosus disproportionately affects ethnic female population

New drug reduces tumor volume and pain in patients with neurofibromatosis type 1

New drug reduces tumor volume and pain in patients with neurofibromatosis type 1

Researchers identify link between ALS and accumulation of DNA-RNA hybrids in the genome

Researchers identify link between ALS and accumulation of DNA-RNA hybrids in the genome

New taxonomic classification of non-skeletal rare congenital disorders with impact on bone physiology

New taxonomic classification of non-skeletal rare congenital disorders with impact on bone physiology

Study: TTR protein plays a protective role in Alzheimer's disease

Study: TTR protein plays a protective role in Alzheimer's disease

RedHill Biopharma: RHB-204 receives FDA Fast Track designation for treatment of NTM disease

RedHill Biopharma: RHB-204 receives FDA Fast Track designation for treatment of NTM disease

Trinity team uncovers mutations linked with early onset dementia

Trinity team uncovers mutations linked with early onset dementia

Researchers establish BRIDGES program to synergize diagnostic efforts, patient outcome management

Researchers establish BRIDGES program to synergize diagnostic efforts, patient outcome management

Neanderthal gene variant increases risk of severe COVID-19

Neanderthal gene variant increases risk of severe COVID-19