Autosomal News and Research

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$3.9 million Challenge grant for Thomas Jefferson researchers

$3.9 million Challenge grant for Thomas Jefferson researchers

Brain disorder that causes early dementia is highly hereditary: Study

Brain disorder that causes early dementia is highly hereditary: Study

DKC establishes link between genetic mutation affecting telomerase function and human disease

DKC establishes link between genetic mutation affecting telomerase function and human disease

FDA grants marketing approval for CSL Behring's Berinert C1-Esterase Inhibitor

FDA grants marketing approval for CSL Behring's Berinert C1-Esterase Inhibitor

Researchers visualize vasculature within native liver cyst walls of human ADPKD patients

Researchers visualize vasculature within native liver cyst walls of human ADPKD patients

Researchers demystify polar body analysis reproduction technique

Researchers demystify polar body analysis reproduction technique

Research study links partial epilepsy to the disruption of brain development during early childhood

Research study links partial epilepsy to the disruption of brain development during early childhood

Discovery of gene linked to maturity-onset diabetes of the young

Discovery of gene linked to maturity-onset diabetes of the young

Advances in cystic fibrosis genetic testing

Advances in cystic fibrosis genetic testing

Two new hereditary corneal disorders discovered

Two new hereditary corneal disorders discovered

Measuring quality of life in patients with hereditary kidney disease

Measuring quality of life in patients with hereditary kidney disease

Genetic link between cats and humans for retinitis pigmentosa

Genetic link between cats and humans for retinitis pigmentosa

Launch of new foundation for Batten disease

Launch of new foundation for Batten disease

Breakthrough in prenatal screening for Down syndrome

Breakthrough in prenatal screening for Down syndrome

New drug shows promise for phenylketonuria

New drug shows promise for phenylketonuria

Discovery of mechanism that may explain Parkinson's and other neurological disorders

Discovery of mechanism that may explain Parkinson's and other neurological disorders

Merck Serono's Kuvan receives European marketing authorization

Merck Serono's Kuvan receives European marketing authorization

Potentially new biomarkers for Alzheimer's

Potentially new biomarkers for Alzheimer's

Discovery of gene behind new form of intellectual disability

Discovery of gene behind new form of intellectual disability

Orphan Europe files NDA with FDA for Carbaglu (carglumic acid)

Orphan Europe files NDA with FDA for Carbaglu (carglumic acid)