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Rat study reveals new clues to devastating neurological disease

Rat study reveals new clues to devastating neurological disease

Targeted treatment slows progression of two degenerative brain diseases in mice

Targeted treatment slows progression of two degenerative brain diseases in mice

Scientists discover potential trigger for MDS in children with rare genetic disorder

Scientists discover potential trigger for MDS in children with rare genetic disorder

Prevention, not cure, may be key to stopping Alzheimer’s disease

Prevention, not cure, may be key to stopping Alzheimer’s disease

Researchers achieve new step towards treatment of myotubular myopathy using gene therapy

Researchers achieve new step towards treatment of myotubular myopathy using gene therapy

Liver shows positive response to leptin therapy in patients with partial lipodystrophy, study finds

Liver shows positive response to leptin therapy in patients with partial lipodystrophy, study finds

Discovery of new genes linked to  Erdheim-Chester disease provides hope for improving diagnoses

Discovery of new genes linked to  Erdheim-Chester disease provides hope for improving diagnoses

NHGRI researchers use facial recognition software to diagnose rare genetic disease

NHGRI researchers use facial recognition software to diagnose rare genetic disease

OTUD6B gene mutations linked to physical and intellectual deficits

OTUD6B gene mutations linked to physical and intellectual deficits

Genome sequencing approach opens door to therapy options for rare, neglected cancers

Genome sequencing approach opens door to therapy options for rare, neglected cancers

Researchers use animal model to study brain abnormality in human TD patients

Researchers use animal model to study brain abnormality in human TD patients

VUMC’s Undiagnosed Diseases Network solves medical mysteries using advanced technologies

VUMC’s Undiagnosed Diseases Network solves medical mysteries using advanced technologies

New method to identify, sort stem cells may help restore vision to people with damaged corneas

New method to identify, sort stem cells may help restore vision to people with damaged corneas

New London Major Early-Phase Contract Research Center Opened on Rare Disease Day

New London Major Early-Phase Contract Research Center Opened on Rare Disease Day

Two thirds of IPF patients report being involved during the decision-making process for the most appropriate treatment

Two thirds of IPF patients report being involved during the decision-making process for the most appropriate treatment

Researchers discover rare deafness-dystonia syndrome in a family in Pakistan

Researchers discover rare deafness-dystonia syndrome in a family in Pakistan

Scientists propose potential new treatment for Gaucher disease

Scientists propose potential new treatment for Gaucher disease

UMass Amherst study highlights unmet drug needs of patients with rare diseases

UMass Amherst study highlights unmet drug needs of patients with rare diseases

Combination of drugs amplifies kill rates of brain cancer tumours in mice

Combination of drugs amplifies kill rates of brain cancer tumours in mice

Study provides new insight into causes of rare metabolic disorder

Study provides new insight into causes of rare metabolic disorder