St. Jude Children's Research Hospital scientists have demonstrated in mouse studies that the neurological disease spinal bulbar muscular atrophy (SBMA) can be successfully treated with drugs. The finding paves the way for ...
Mar 15, 2018
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411
Genetic mutations linked to heart disease have been considered a leading cause of sudden infant death syndrome, but a new study by Mayo Clinic, British and Danish researchers finds they are to blame for far fewer SIDS deaths ...
Mar 12, 2018
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2
Familial human prion diseases are passed within families and are associated with 34 known prion protein mutations. To determine whether three of the unstudied mutations are transmissible, scientists from the National Institute ...
Mar 8, 2018
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3
Scientists have successfully used gene editing to repair 20 to 40 percent of stem and progenitor cells taken from the peripheral blood of patients with sickle cell disease, according to Rice University bioengineer Gang Bao.
Feb 16, 2018
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22
Rare hereditary recessive diseases were thought to be expressed in off-spring only when both parents carry a mutation in the causal gene, but a new study is changing this paradigm. An international research team led by scientists ...
Jan 30, 2018
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Researchers have shown for the first time how children can inherit a severe - potentially fatal - mitochondrial disease from a healthy mother. The study, led by researchers from the MRC Mitochondrial Biology Unit at the University ...
Jan 15, 2018
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273
University of Michigan-led research brings scientists one step closer to understanding the development of neurodegenerative disorders such as ALS.
Dec 8, 2017
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1
DNA sequences between mitochondria within a single cell are vastly different, found researchers in the Perelman School of Medicine at the University of Pennsylvania. This knowledge will help to better illuminate the underlying ...
Dec 6, 2017
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864
(HealthDay)—About one-quarter of adults with chronic kidney disease (CKD) of unknown cause or familial nephropathy or hypertension have diagnostic mutations, which can be identified with whole-exome sequencing (WES), according ...
Dec 5, 2017
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Scientists successfully reduced the symptoms of a blood disease called myeloproliferative neoplasm in mouse models by interrupting an important regulatory pathway, according to a Northwestern Medicine study published in the ...
Dec 1, 2017
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