Genetics
Scientists first to pinpoint a cause of pigmentary glaucoma
An international team of researchers has identified a gene responsible for the onset of pigmentary glaucoma, which may lead to new therapies for the condition.
Jan 31, 2019
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5
Human Molecular Genetics
Genetics
Interferon regulatory factor six mutations implicated in neural tube defects, including spina bifida
Mutations in a gene known as interferon regulatory factor 6 (IRF6) that cause cleft lip and palate also are implicated in neural tube defects such as spina bifida, suggests research by an international study team published ...
Jan 25, 2019
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Genetics
Drug treatment could offer new hope for some patients with brain bleeding
A drug treatment, already approved for use in patients, could offer new hope for some patients with brain bleeding and strokes.
Nov 27, 2018
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5
Genetics
Ashkenazi Jewish founder mutation identified for Leigh Syndrome
Over 30 years ago, Marsha and Allen Barnett lost their sons to a puzzling childhood disease that relentlessly attacked their nervous systems and sapped their energy. After five-year-old Chuckie died suddenly in 1981, doctors ...
Nov 15, 2018
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19
Parkinson's & Movement disorders
Researchers find inhibiting one protein destroys toxic clumps seen in Parkinson's disease
A defining feature of Parkinson's disease is the clumps of alpha-synuclein protein that accumulate in the brain's motor control area, destroying dopamine-producing neurons. Natural processes can't clear these clusters, known ...
Nov 14, 2018
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1267
Genetics
Researchers find novel mutation affecting YARS causes multisystem disease
Researchers have identified a novel missense mutation in tyrosyl-tRNA synthetase (YARS c.499C>A, p.Pro167Thr) that causes a severe recessive disorder in affected individuals. The study, led by clinicians, researchers and ...
Nov 7, 2018
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1
Genetics
Researchers find answers as to why some people are at risk of gout
University of Otago researchers have helped characterise a genetic variant that enables new understanding of why some people are at risk of gout, a painful and debilitating arthritic disease.
Sep 12, 2018
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289
Oncology & Cancer
Novel gene mutation found in lymphatic disorder
Pediatric researchers have identified a gene mutation that causes a serious lymphatic condition, and used that knowledge to restore normal lymphatic vessels in model animals. The laboratory findings may lead to a new therapy ...
Aug 28, 2018
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Genetics
Amish nemaline myopathy natural history study finds promise for gene therapy treatment
A new comprehensive natural history study about Amish nemaline myopathy (ANM) in the Old Order Amish population focuses on the promise of gene therapy for this lethal disorder. Amish nemaline myopathy (ANM) is an infantile-onset ...
Aug 13, 2018
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3
Genetics
Blindness gene discovered
The human genome is made up of 20,000 genes, all of which may cause disease. At present, 4,141 genes have been identified as being responsible for genetic abnormalities, leaving around 16,000 genes with unknown implication ...
Jul 23, 2018
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