Research on rare genetic disease reveals new stem cell pathway
How do you improve a Nobel Prize-winning discovery? Add a debilitating disease-causing gene mutation.
How do you improve a Nobel Prize-winning discovery? Add a debilitating disease-causing gene mutation.
Cell & Microbiology
Oct 24, 2016
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Researchers reveal how a protein linked to Meckel syndrome (MKS) and other human diseases regulates the membrane composition of cilia, finger-like projections on the surface of cells that communicate signals. The study appears ...
Cell & Microbiology
Apr 13, 2015
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In what is anticipated to be a major step forward for rare disease research, The New York Stem Cell Foundation (NYSCF) Research Institute is partnering with the National Institutes of Health (NIH) Undiagnosed Disease Program ...
Cell & Microbiology
Nov 21, 2013
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A rare, emerging fungal disease that is spreading throughout Canada and Northwestern USA can easily pass its deadly genes to related fungal strains within the species but less readily to more distant relatives, according ...
Biotechnology
Sep 5, 2013
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The remains of Julia Pastrana, a Mexican who was paraded in fairs and circuses as the "ape woman" in 19th century Europe, have returned home from Norway 153 years after her death.
Archaeology
Feb 12, 2013
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(Phys.org)—English majors might warm to the question of what they want to be when they graduate. Author? OK. Writer? Fine. Master Compiler? Hmm. "Master Compiler" is not a familiar career path to English majors, but it ...
Stem cells are a valuable resource for medical and biological research, but are difficult to study due to ethical and societal barriers. However, genetically manipulated cells from adults may provide a path to study stem ...
Cell & Microbiology
Nov 1, 2012
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A team of scientists, led by researchers at the University of California, San Diego School of Medicine and Zacharon Pharmaceuticals, have developed a simple, reliable test for identifying biomarkers for mucopolysaccharidoses ...
Biochemistry
Jan 8, 2012
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A rare genetic disease called dyskeratosis congenita, caused by the rapid shortening of telomeres (protective caps on the ends of chromosomes), can be mimicked through the study of undifferentiated induced pluripotent stem ...
Biotechnology
May 23, 2011
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(PhysOrg.com) -- Scientists have developed Australias first adult induced pluripotent stem cell lines using skin biopsies from patients with the rare genetic disease Friedreich Ataxia (FA).
Cell & Microbiology
Jan 13, 2011
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