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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Largest-ever genome-wide study identifies genes for common childhood obesity
Genetics researchers have identified at least two new gene variants that increase the risk of common childhood obesity.
Genetics
Apr 08, 2012 |
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Global genome effort seeks genetic roots of disease
By decoding the genomes of more than 1,000 people whose homelands stretch from Africa and Asia to Europe and the Americas, scientists have compiled the largest and most detailed catalog yet of human genetic ...
Genetics
Oct 31, 2012 |
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Bionic eye gives hope to the blind
After years of research, the first bionic eye has seen the light of day in the United States, giving hope to the blind around the world.
Ophthalmology
Feb 05, 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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Vitamin B12 deficiency: Tracking the genetic causes
Vitamin B12 is essential to human health. However, some people have inherited conditions that leave them unable to process vitamin B12. As a result they are prone to serious health problems, including developmental delay, ...
Genetics
Aug 26, 2012 |
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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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Cause of rare growth disease discovered
A rare genetic disease which causes some parts of the body to grow excessively has been linked to a cancer-associated mutation that drives cell growth, potentially paving the way for new treatments. The research ...
Genetics
Jun 25, 2012 |
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Genetic error linked to rare disease that causes chronic respiratory infections
(Medical Xpress)—Scanning the DNA of two people with a rare disease has led scientists to identify the precise genetic error responsible for their disorder, primary ciliary dyskinesia.
Genetics
Oct 16, 2012 |
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A hidden architecture: Researchers use novel methods to uncover gene mutations for common diseases
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 ...
Genetics
Mar 25, 2012 |
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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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Neuroscientists find that two rare autism-related disorders are caused by opposing malfunctions in the brain
(Medical Xpress) -- Most cases of autism are not caused by a single genetic mutation. However, several disorders with autism-like symptoms, including the rare Fragile X syndrome, can be traced to a specific mutation. Several ...
Neuroscience
Nov 24, 2011 |
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