News tagged with rare genetic disorders
New mouse models generated for MYH9 genetic disorders
Researchers have created the first mouse models of human MYH9 genetic disorders, which cause several problems -- including enlarged platelets and sometimes fatal kidney disease.
Mar 09, 2011 |
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Rare disease reveals new path for creating stem cells
(PhysOrg.com) -- As debilitating as disease can be, sometimes it acts as a teacher. Researchers at Harvard Medical School and the Harvard School of Dental Medicine have found that by mimicking a rare genetic ...
Medicine & Health / Medical research
Nov 21, 2010 |
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FDA approves kidney cancer drug to treat brain tumors
The United States has approved a drug normally used for advanced kidney cancer to treat brain tumors caused by a rare genetic disease, US officials and the Swiss manufacturer said Monday.
Medicine & Health / Medications
Nov 01, 2010 |
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Sanofi-Aventis launches Genzyme takeover battle
(AP) -- France's Sanofi-Aventis on Monday launched an $18.5 billion hostile takeover attempt for Genzyme Corp., escalating the battle after management of the U.S. biotech company twice rejected its offer.
Oct 04, 2010 |
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Bedouin tribe reveals secrets to McGill's GA-JOE
Van Den Ende-Gupta syndrome (VDEGS) is an extremely rare genetic disorder that is characterized by distinctive head and facial features, such as unusual eyelids, narrow and beaked noses, flat nasal bridges, ...
Sep 30, 2010 |
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Gene scan finds link across array of childhood brain disorders
Mutations in a single gene can cause several types of developmental brain abnormalities that experts have traditionally considered different disorders. With support from the National Institutes of Health, researchers found ...
Aug 22, 2010 |
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Medicine may be key to cloning's future
The cloning of animals may have come from agriculture, but its real promise may be in the lucrative field of medicine rather than as food.
Aug 17, 2010 |
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Discovery of rare genetic mutation could help battle Tourette syndrome
A single, very unusual family with Tourette syndrome (TS) has led Yale School of Medicine researchers to identify a rare mutation in a gene that is required to produce histamine. The finding provides a new ...
May 05, 2010 |
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Ability to navigate may be linked to genes, researcher says
Imagine that you are emerging from the subway and heading for your destination when you realize that you are going in the wrong direction. For a moment, you feel disoriented, but a scan of landmarks and the layout of the ...
Feb 01, 2010 |
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Non-invasive testing, earlier surgery can stop seizures in tuberous sclerosis complex
When medication fails to control seizures in children with tuberous sclerosis complex (TSC), a rare genetic disorder that affects multiple organ systems and frequently causes epilepsy, surgery to remove part ...
Medicine & Health / Diseases, Conditions, Syndromes
Jan 29, 2010 |
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New data show breakthrough microRNA-targeted therapy holds promise as new treatment for hepatitis C
A study published online in this week's Science shows that SPC3649, a breakthrough microRNA-targeted therapy developed by Santaris Pharma A/S, holds promise as a novel treatment for patients infected with the Hepatitis C viru ...
Medicine & Health / Diseases, Conditions, Syndromes
Dec 03, 2009 |
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Nervous system may be culprit in deadly muscle disease
Brain may win out over brawn as the primary cause of breathing problems in children with a severe form of muscular dystrophy known as Pompe disease.
Medicine & Health / Medical research
May 25, 2009 |
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Simulated gene therapy
In a recent issue of The Journal of Chemical Physics, published by the American Institute of Physics (AIP), a group of researchers at the University of California, Berkeley and Los Alamos National Laboratory describe the fi ...
Apr 29, 2009 |
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Abnormal EKG can predict death in stroke patients
People who suffer an ischemic stroke and also have an abnormality in the heart's electrical cycle are at a higher risk of death within 90 days than people who do not have abnormal electrical activity at the time of emergency ...
Medicine & Health / Diseases, Conditions, Syndromes
Mar 20, 2009 |
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Sociability traced to particular region of brain
People with a genetic condition called Williams syndrome are famously gregarious. Scientists, looking carefully at brain function in individuals with Williams syndrome, think they may know why this is so. The researchers ...
Medicine & Health / Medical research
Jan 27, 2009 |
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