Genetic Disorder News and Research

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SRF announces grant to support research on SynGAP-Related Disorder in adults

SRF announces grant to support research on SynGAP-Related Disorder in adults

New research advocates genetic screening in early onset atrial fibrillation

New research advocates genetic screening in early onset atrial fibrillation

UH College of Pharmacy secures CPRIT funding to fight familial adenomatous polyposis

UH College of Pharmacy secures CPRIT funding to fight familial adenomatous polyposis

UCSF scientists discover less invasive prenatal treatment for Angelman syndrome

UCSF scientists discover less invasive prenatal treatment for Angelman syndrome

SickKids study offers new path for pediatric rare disease clinical trials

SickKids study offers new path for pediatric rare disease clinical trials

UCLA researchers uncover dual role of GAN gene in neurological disorder, head and neck cancer

UCLA researchers uncover dual role of GAN gene in neurological disorder, head and neck cancer

If you’re poor, fertility treatment can be out of reach

If you’re poor, fertility treatment can be out of reach

Never-before-documented genetic disorder causes rare lung disease

Never-before-documented genetic disorder causes rare lung disease

Breakthrough gene-editing therapy transforms lives of patients with a hereditary disorder

Breakthrough gene-editing therapy transforms lives of patients with a hereditary disorder

Engineered virus-like particles power up gene editing, correcting blindness in mice

Engineered virus-like particles power up gene editing, correcting blindness in mice

Global study emphasizes early detection of familial hypercholesterolaemia in youth

Global study emphasizes early detection of familial hypercholesterolaemia in youth

Long-term monitoring of gene therapy patients crucial for safety, study says

Long-term monitoring of gene therapy patients crucial for safety, study says

Recaticimab injection every 1-3 months may safely lower bad cholesterol

Recaticimab injection every 1-3 months may safely lower bad cholesterol

Quick genetic test offers hope for sick, undiagnosed kids. but few insurers offer to pay.

Quick genetic test offers hope for sick, undiagnosed kids. but few insurers offer to pay.

Investigational drug restores calcium levels in rare genetic disorder

Investigational drug restores calcium levels in rare genetic disorder

Study reveals how a causal factor in Angelman syndrome eliminates neural chat

Study reveals how a causal factor in Angelman syndrome eliminates neural chat

Gene therapy reduces hearing loss associated with Norrie disease in mice

Gene therapy reduces hearing loss associated with Norrie disease in mice

New gene variant linked to Parkinson's disease found in people of African ancestry

New gene variant linked to Parkinson's disease found in people of African ancestry

Gene therapy repairs neural connections in mice with Hurler syndrome

Gene therapy repairs neural connections in mice with Hurler syndrome

Exploring developmental pathways and disease interactions in nervous and stomatognathic systems

Exploring developmental pathways and disease interactions in nervous and stomatognathic systems

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