CSL Behring announced today that it has initiated an international phase I/II study of a volume-reduced, subcutaneous formulation of C1-esterase inhibitor (C1-INH) concentrate in patients with hereditary angioedema.

A research team, led by John Guy, M.D., professor of ophthalmology at Bascom Palmer Eye Institute of the University of Miami Miller School of Medicine, has pioneered a novel technological treatment for Leber Hereditary Optic Neuropathy (LHON), an inherited genetic defect that causes rapid, permanent, and bilateral loss of vision ...

A team of scientists led by Johns Hopkins researchers have found that more than four in 10 people considered at high risk for hereditary pancreatic cancer have small pancreatic lesions long before they have any symptoms of the deadly disease. Moreover, they report, the frequency of the abnormal precancerous lesions ...

A team of scientists led by Johns Hopkins researchers have found that more than four in 10 people considered at high risk for hereditary pancreatic cancer have small pancreatic lesions long before they have any symptoms of the deadly disease.

Ultragenyx Pharmaceutical Inc., a biotechnology company focused on developing treatments for rare and ultra-rare genetic disorders, today announced that the Phase 1 study of UX001 for hereditary inclusion body myopathy (HIBM) has been completed.

Hereditary hearing loss is the most common sensory disorder in humans. A German research team led by Ingo Kurth from the Institute of Human Genetics at the University Hospital Jena, Germany, used a number of different methods, including Roche's NimbleGen Custom Sequence Capture 385K array to identify the gene mutated ...

After a 20-year quest to find a genetic driver for prostate cancer that strikes men at younger ages and runs in families, researchers have identified a rare, inherited mutation linked to a significantly higher risk of the disease. A report on the discovery was published in the January 12, 2012 ...

After a 20-year quest to find a genetic driver for prostate cancer that strikes men at younger ages and runs in families, researchers have identified a rare, inherited mutation linked to a significantly higher risk of the disease.

Chapel Hill - After a 20-year quest to find a genetic driver for prostate cancer that strikes men at younger ages and runs in families, researchers have identified a rare, inherited mutation linked to a significantly higher risk of the disease. A report on the discovery was ...

Hereditary spastic paraplegias (HSPs) are a group of inherited neurodegenerative disorders characterized by progressive weakness and spasticity (stiffness) of the legs. Mutations in more than 30 genes have been linked to HSPs...

Mutations in the ATM gene may increase the hereditary risk for pancreatic cancer, according to data published in Cancer Discovery, the newest journal of the American Association for Cancer Research.

Ohio State University researchers have discovered a hereditary cancer syndrome that predisposes certain people to a melanoma of the eye, along with lung cancer, brain cancer and possibly other types of cancer. The hereditary cancer syndrome is caused by an inherited mutation in a gene called BAP1, researchers say. The ...