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Children's National receives new funding to strengthen global polycystic kidney disease initiative

Children's National receives new funding to strengthen global polycystic kidney disease initiative

Adult SMA patients treated with Nusinersen show improvement in motor function

Adult SMA patients treated with Nusinersen show improvement in motor function

Inhibiting mutant CHIP protein activity could decrease severity of ataxia disease symptoms

Inhibiting mutant CHIP protein activity could decrease severity of ataxia disease symptoms

Newly identified gene variant may offer potential treatment for Alzheimer's disease

Newly identified gene variant may offer potential treatment for Alzheimer's disease

Researchers discover cause of new inherited form of pancreatitis

Researchers discover cause of new inherited form of pancreatitis

Q-Suite Motor Assessment Tool helps detect subtle motor abnormalities in children

Q-Suite Motor Assessment Tool helps detect subtle motor abnormalities in children

Research reveals new mechanism which could lead to premature aging in mother cells

Research reveals new mechanism which could lead to premature aging in mother cells

CFSRE and Verogen join forces to accelerate implementation of new forensic NGS technology

CFSRE and Verogen join forces to accelerate implementation of new forensic NGS technology

Promising new drug being developed for polycystic kidney disease

Promising new drug being developed for polycystic kidney disease

New therapy may kill cancer cells in inherited breast cancer

New therapy may kill cancer cells in inherited breast cancer

Polycystic kidney disease may be preventable

Polycystic kidney disease may be preventable

"Australian" genetic mutation provides clues to Alzheimer’s mechanism

"Australian" genetic mutation provides clues to Alzheimer’s mechanism

Internet may help diagnose people with rare disorders

Internet may help diagnose people with rare disorders

Study investigates whether patients with ADPKD should be screened for brain aneurysms

Study investigates whether patients with ADPKD should be screened for brain aneurysms

Altered protein and mutated clusters of genes in Alzheimer’s disease

Altered protein and mutated clusters of genes in Alzheimer’s disease

Gene modulation goes wireless hacking the "boss gene"

Gene modulation goes wireless hacking the "boss gene"

Scientists identify early signs of Parkinson’s disease years before symptoms develop

Scientists identify early signs of Parkinson’s disease years before symptoms develop

Scientists develop new class of drugs to treat hereditary kidney disease

Scientists develop new class of drugs to treat hereditary kidney disease

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

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

Disease-modifying therapy for Alport syndrome still remains an unmet need

Disease-modifying therapy for Alport syndrome still remains an unmet need