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Genetic variants in a neuro-associated gene cause neurodevelopmental disorder, finds study

Genetic variants in a neuro-associated gene cause neurodevelopmental disorder, finds study

UPMC expert finds successful treatment for rare diseases diagnosed by newborn screenings

UPMC expert finds successful treatment for rare diseases diagnosed by newborn screenings

New book improves understanding of rare disease genetics using genomic approaches

New book improves understanding of rare disease genetics using genomic approaches

New initiative to reduce treatment delays for patients with rare diseases

New initiative to reduce treatment delays for patients with rare diseases

New method helps identify rare genetic disease that affects brain development

New method helps identify rare genetic disease that affects brain development

Expert panel provides guidance for optimized design of early drug trials for Alzheimer's, related dementias

Expert panel provides guidance for optimized design of early drug trials for Alzheimer's, related dementias

Experts discuss the role of hormones in everyday life, highlight policy measures to address challenges

Experts discuss the role of hormones in everyday life, highlight policy measures to address challenges

A new 3D model for myotonic dystrophy

A new 3D model for myotonic dystrophy

New compound could alleviate neurological symptoms of CHARGE syndrome

New compound could alleviate neurological symptoms of CHARGE syndrome

CDISC, NORD announce partnership to develop global data standards for rare diseases

CDISC, NORD announce partnership to develop global data standards for rare diseases

C-Path opens access to D-RSC database to accelerate therapy development for DMD

C-Path opens access to D-RSC database to accelerate therapy development for DMD

Novel approach to gene editing bypasses disease-causing mutations in a gene

Novel approach to gene editing bypasses disease-causing mutations in a gene

New and more effective treatment for Pompe disease

New and more effective treatment for Pompe disease

Keele researcher awarded prestigious grant to identify treatments for devastating childhood disease

Keele researcher awarded prestigious grant to identify treatments for devastating childhood disease

Gift boosts efforts to understand and combat rare cancers

Gift boosts efforts to understand and combat rare cancers

New grant to Harvard Medical School is boosting efforts to understand and combat rare cancers

New grant to Harvard Medical School is boosting efforts to understand and combat rare cancers

Researchers evaluate new drug for spinal muscular atrophy in a broader spectrum of patients

Researchers evaluate new drug for spinal muscular atrophy in a broader spectrum of patients

Single injection of RNA therapy improves vision in patient with genetic form of childhood blindness

Single injection of RNA therapy improves vision in patient with genetic form of childhood blindness

Scientists discover new genetic disease that causes abnormal brain development in children

Scientists discover new genetic disease that causes abnormal brain development in children

Research consortium identifies cell stress mechanisms for chronic inflammatory liver disease

Research consortium identifies cell stress mechanisms for chronic inflammatory liver disease