News tagged with rare diseases
New cases of rare genetic disorder identified
Scientists at the University of Liverpool, working with international partners, have shown a rare genetic disease, that causes crippling osteoarthritis in the spine and major joints, is far more prevalent worldwide than previously ...
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Pharma's niche focus spurs US aid for antibiotics
(AP) -- The pharmaceutical industry won approval to market a record number of new drugs for rare diseases last year, as a combination of scientific innovation and business opportunity spurred new treatments for diseases ...
Medicine & Health / Medications
Jan 25, 2012 |
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Study: Stem cells may aid vision in blind people
The first use of embryonic stem cells in humans eased a degenerative form of blindness in two volunteers and showed no signs of any adverse effects, according to a study published by The Lancet on Monday.
Jan 23, 2012 |
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Genetic mutation leads to cold allergy, immune deficiency and autoimmunity
Investigators at the National Institutes of Health have identified a genetic mutation in three unrelated families that causes a rare immune disorder characterized by excessive and impaired immune function. Symptoms of this ...
Jan 11, 2012 |
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New test spots early signs of mucopolysaccharidoses -- inherited metabolic disorders
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 ...
Jan 08, 2012 |
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Gene hunters find cause of rare movement disorder
(Medical Xpress) -- After a challenging two-decade hunt, scientists have pinpointed the gene responsible for a rare disease that causes seizures in infancy and sudden, uncontrollable movements in adolescence and early adulthood.
Dec 16, 2011 |
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Cancer-related pathway reveals potential treatment target for rare pediatric disease
Cancer researchers studying genetic mutations that cause leukemia have discovered a connection to the rare disease cherubism, an inherited facial bone disorder in children.
Dec 08, 2011 |
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Institute presses for greater use of gene sequencing in medicine
Almost a year after researchers in Wisconsin published a groundbreaking paper describing their use of genetic sequencing to diagnose and treat a 4-year-old boy, a national health agency is shifting its focus to put $416 ...
Dec 07, 2011 |
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Is obesity a ciliopathy, triggered by malfunctioning primary cilia?
Is obesity a ciliopathy, a disorder such as polycystic kidney disease (PKD), which is triggered by a defect in the microscopic hair-like cilia that protrude from virtually every cell of humans and other vertebrates?
Dec 06, 2011 |
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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 ...
Medicine & Health / Neuroscience
Nov 24, 2011 |
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NIH teacher resources feature rare diseases and evolution
Teachers now have an innovative way to help students approach challenging biology questions with two new free curriculum supplements from the National Institutes of Health: Evolution and Medicine,and Rare Diseases ...
Nov 03, 2011 |
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Sildenafil may benefit children with pulmonary arterial hypertension
Sildenafil is currently approved for adult pulmonary arterial hypertension (PAH); however, new research presented at CHEST 2011, the 77th annual meeting of the American College of Chest Physicians (ACCP), shows the drug may ...
Medicine & Health / Cardiology
Oct 24, 2011 |
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Scientists unravel the cause of rare genetic disease: Goldman-Favre Syndrome explained
A new research report published in The FASEB Journal will help ophthalmologists and scientists better understand a rare genetic disease that causes increased susceptibility to blue light, night blindness, and decreased vision ...
Aug 31, 2011 |
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Mayo Clinic finds social media valuable tool to recruit study participants for rare diseases
Mayo Clinic has identified a new benefit of social media and online networking: a novel way to study rare diseases. Through patient-run websites dedicated to heart conditions and women's heart health, a team of cardiologists ...
Aug 30, 2011 |
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BUSM professor authors book on how knowledge about genes and family history can save lives
World-renowned genetics expert Aubrey Milunsky, MD, DSc, has penned a new book focused on new DNA tests that have dramatically expanded our ability to avoid, prevent, diagnose, predict and treat many genetic disorders. Based ...
Aug 26, 2011 |
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