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.
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

New mutation discovered in the leptin gene

New mutation discovered in the leptin 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

New discovery could improve therapies for Duchenne muscular dystrophy

New discovery could improve therapies for Duchenne muscular dystrophy

New statement emphasizes need for special multidisciplinary clinical programs

New statement emphasizes need for special multidisciplinary clinical programs

Children's Tumor Foundation establishes significant research initiative to combat NF2

Children's Tumor Foundation establishes significant research initiative to combat NF2

Researchers evaluate risk factors and outcomes for young adults with familial hypercholesterolemia

Researchers evaluate risk factors and outcomes for young adults with familial hypercholesterolemia

$150,000 grant will support research on spinal muscular atrophy

$150,000 grant will support research on spinal muscular atrophy

Sleep problems in autism may be linked to gene mutation

Sleep problems in autism may be linked to gene mutation

New gene therapy cures babies with fatal 'Bubble Boy' disease

New gene therapy cures babies with fatal 'Bubble Boy' disease

Researchers find presence of Aire gene in lymph nodes

Researchers find presence of Aire gene in lymph nodes

Dietary fiber could help prevent chronic obstructive pulmonary disease

Dietary fiber could help prevent chronic obstructive pulmonary disease

Royal Holloway professors to lead new to research into curing Neurofibromatosis type 1

Royal Holloway professors to lead new to research into curing Neurofibromatosis type 1

Study brings clarity about milk intake for children with Duarte galactosemia

Study brings clarity about milk intake for children with Duarte galactosemia