(Medical Xpress) -- Howard Hughes Medical Institute investigator Friedhelm Hildebrandt has discovered that genetic mutations that impair cells’ ability to repair damaged DNA can cause chronic kidney disease.
Aug 7, 2012
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Huntington's disease (HD) is a rare disease characterized by abnormal chorea movement and caused by the Huntingtin (Htt) gene mutation and neurodegeneration in a brain area called the striatum. A research group led by Dr. ...
Feb 28, 2020
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A Jackson Laboratory research team led by Professor and Howard Hughes Medical Investigator Susan Ackerman, Ph.D., has discovered a defect in the RNA splicing process in neurons that may contribute to neurological disease.
Jan 19, 2012
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Patients with ALK-rearranged non-small cell lung cancer (NSCLC) responded significantly better to pemetrexed (brand name: Alimta) than patients whose cancer did not show ALK translocation, according to research published ...
Sep 1, 2011
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A study led by researchers at the National Institutes of Health has made a surprising connection between frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), two disorders of the nervous system, and the ...
Dec 4, 2020
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Ludwig Maximilians University Munich (LMU) immunologists have discovered how mutations in Roquin-1 trigger autoimmunity, but can also improve the body's fight against cancer cells.
Nov 26, 2021
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Parkinson disease (PD) is a devastating incurable disease in which degeneration of dopamine neurons in the brainstem leads to tremors and problems with movement and coordination. An increasing proportion of patients appear ...
Jul 14, 2011
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Babies born with autosomal recessive polycystic kidney disease (ARPKD) often develop kidney failure because they have very large kidneys filled with tiny cysts. Even with excellent medical care, about 30% die shortly after ...
Oct 24, 2011
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In type 1 diabetes, the immune system destroys insulin-producing cells in the pancreas, but the precise cause has not been clear. A study published by Cell Press on March 5th in Cell Metabolism reveals that a single mutation ...
Mar 5, 2013
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Human geneticists have long debated whether the genetic risk of the most common medical conditions derive from many rare mutations, each conferring a high degree of risk in different people, or common differences throughout ...
Mar 25, 2012
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