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.

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.

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.

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.

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.

Mayo Clinic researchers have found that carrying a common genetic disorder doubles the risk of developing lung cancer in smokers and nonsmokers.

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.

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.

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.

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.

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.

Researchers at Georgetown University Medical Center and the National Institutes of Health (NIH) have, for the first time, used a "bionic" 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.