An Australian-led global initiative to improve the diagnosis of genetic disorders and reduce errors in the reporting of genetic variations has been published today in the prestigious scientific journal Science.
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Pycnodysostosis, a condition from which the painter Henri de Toulouse-Lautrec suffered, is a genetic disease characterized by short stature. This rare disease, surprisingly, provides a window into how joints are destroyed by arthritis.
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Researchers at the UC Davis M.I.N.D. Institute and The Children's Hospital in Denver have conducted the largest study to date describing the medical and psychological characteristics of a rare genetic disorder in which males have two "X" and two "Y" chromosomes, rather than the normal one of each.
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A study funded by the National Institutes of Health (NIH) has transformed scientists' understanding of Rett syndrome, a genetic disorder that causes autistic behavior and other disabling symptoms.
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Carriers of a common genetic disorder previously linked to lung disease may have a 70-percent to 100-percent increased risk of lung cancer, according to a report in the May 26 issue of Archives of Internal Medicine, one of the JAMA/Archives journals.
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Mayo Clinic researchers have found that carrying a common genetic disorder doubles the risk of developing lung cancer in smokers and nonsmokers.
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One of the nation’s pre-eminent genetic researchers, Eric Hoffman, PhD, of Children’s Research Institute at Children’s National Medical Center, predicts that in relatively short order, medicine’s next innovation--individualized molecular therapies--will have the unprecedented ability to treat muscular dystrophies, and other disorders.
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Children born with a rare genetic disorder that can lead to debilitating and irreversible brain injury may find protection with the aid of brain imaging and a modified diet.
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Twenty-one years after they first described a fatal genetic disorder in Missouri and Arkansas families, scientists at Washington University School of Medicine in St. Louis have linked the condition to mutations in a gene known as TREX1.
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Purdue University researchers worked with the Indiana University School of Medicine to establish a technique that provides a new approach for detecting a number of genetic disorders found in infants and young children.
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Patients with the genetic disorder von Hippel-Lindau disease may suddenly experience hearing loss because of a tumor-associated hemorrhage in the inner ear, according to a study in the July 4 issue of JAMA.
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Researchers at Georgetown University Medical Center and the National Institutes of Health (NIH) have, for the first time, used a "bionic"Â ear to restore hearing in a patient with von Hippel-Lindau disease. They say this advance offers new hope for individuals with the rare disorder, which can produce non-malignant tumors in ears, as well as in the eyes, brain, and kidneys.
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