Genetic Disorder News and Research

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A genetic disorder is a disease caused in whole or in part by a "variation" (a different form) or "mutation" (alteration) of a gene.
SOX9 broadly modifies the severity of Alagille syndrome liver disease in mice

SOX9 broadly modifies the severity of Alagille syndrome liver disease in mice

New grants support research on mechanics of tumor cells

New grants support research on mechanics of tumor cells

Rare genetic disorder more common than previously thought, report shows

Rare genetic disorder more common than previously thought, report shows

Researchers identify gene mutation that causes musculoskeletal problems in children

Researchers identify gene mutation that causes musculoskeletal problems in children

New study on gene modulation may help prevent blindness

New study on gene modulation may help prevent blindness

'A new era of drug discovery’: Company develops drug using AI

'A new era of drug discovery’: Company develops drug using AI

Experimental treatment shows early promise to help nearly half of DMD patients

Experimental treatment shows early promise to help nearly half of DMD patients

Cheaper drug equally effective in preserving cardiovascular function in boys with DMD

Cheaper drug equally effective in preserving cardiovascular function in boys with DMD

Study: Gene editing may correct genetic mutation responsible for Duchenne muscular dystrophy

Study: Gene editing may correct genetic mutation responsible for Duchenne muscular dystrophy

Scientists pinpoint cause of fatal genetic disorder in children

Scientists pinpoint cause of fatal genetic disorder in children

Chemist explores link between Alzheimer's and copper protein molecules in brain cells

Chemist explores link between Alzheimer's and copper protein molecules in brain cells

Children's Tumor Foundation harnesses interest in rare disease research through NF Innovation Week

Children's Tumor Foundation harnesses interest in rare disease research through NF Innovation Week

Computer model could be used to quickly evaluate new drugs for sickle cell disease

Computer model could be used to quickly evaluate new drugs for sickle cell disease

Important steps to slow down Alzheimer's disease

Important steps to slow down Alzheimer's disease

Johns Hopkins researchers use nanotechnology to repair faulty brain circuits

Johns Hopkins researchers use nanotechnology to repair faulty brain circuits

Measuring pupil dilation and heart rate using AI could enable earlier diagnosis of autism

Measuring pupil dilation and heart rate using AI could enable earlier diagnosis of autism

Understanding how anti-malarial drug primaquine works lead to more effective malarial therapies

Understanding how anti-malarial drug primaquine works lead to more effective malarial therapies

BU professor awarded NIH grant to study Down syndrome

BU professor awarded NIH grant to study Down syndrome

Population-scale DNA test could make personalized medicine effective and affordable for all

Population-scale DNA test could make personalized medicine effective and affordable for all

FDA expands approval of cystic fibrosis treatment to include pediatric patients as young as 6 years old

FDA expands approval of cystic fibrosis treatment to include pediatric patients as young as 6 years old