News tagged with rare genetic disease
Stem cell researchers move toward treatment for rare genetic nerve disease
(Medical Xpress)—UCLA researchers at the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research have used induced pluripotent stem cells (iPSC) to advance disease-in-a-dish modeling of a rare genetic ...
Diseases, Conditions, Syndromes
May 10, 2013 |
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A cautionary tale on genome-sequencing diagnostics for rare diseases
Children born with rare, inherited conditions known as Congenital Disorders of Glycosylation, or CDG, have mutations in one of the many enzymes the body uses to decorate its proteins and cells with sugars. Properly diagnosing ...
Genetics
May 10, 2013 |
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Investigating devastating childhood diseases just got easier
Induced pluripotent stem cells (iPScs) from the skin of patients with Dravet syndrome (DS) show Dravet-like functional impairment when they are converted into neurons, finds research in BioMed Central's open ...
Medical research
May 01, 2013 |
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New subtype of ataxia identified
Researchers from the Germans Trias i Pujol Health Sciences Research Institute Foundation (IGTP), the Bellvitge Biomedical Research Institute (IDIBELL), and the Sant Joan de Déu de Martorell Hospital, has identified a new ...
Neuroscience
Apr 29, 2013 |
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New approaches in treating complicated childhood polycystic kidney disease
A collaborative team of physician-scientists at the Medical College of Wisconsin (MCW) and Children's Hospital of Wisconsin Research Institute has developed a new evidence-based, clinical algorithm to help physicians treat ...
Diseases, Conditions, Syndromes
Apr 26, 2013 |
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Gene controls three different diseases
An international research consortium led by the Universitat Autònoma de Barcelona (UAB), the CIBERER and the University of Wurzburg (Germany) has discovered a gene that can cause three totally different diseases, depending ...
Genetics
Apr 25, 2013 |
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Therapy helps regenerate child's undeveloped bones
Four years ago, Janelly Martinez-Amador was confined to a bed, unable to move even an arm or lift her head. At age 3, the fragile toddler had the gross motor skills of a newborn and a ventilator kept her ...
Diseases, Conditions, Syndromes
Apr 24, 2013 |
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