A new study based on genetic testing of 150,000 people has found a rare mutation that protects even fat people from getting Type 2 diabetes. The effect is so pronounced — the mutation reduces risk by two-thirds — that it provides a promising new target for developing a drug to mimic the mutation’s effect.
Her first thought after she heard the news was that she would never have children. Amanda Baxley’s doctor had just told her she had the gene for Gerstmann-Straussler-Scheinker disease, or GSS, which would inevitably lead to her slow and terrible death. This rare neurological disease had stalked her family for generations.
Seventy medical, research and advocacy organizations active in 41 countries and including the National Institutes of Health announced Wednesday that they have agreed to create an organized way to share genetic and clinical information. Their aim is to put the vast and growing trove of data on genetic variations and health into databases — with the consent of the study subjects —that would be open to researchers and doctors all over the world, not just to those who created them.
The psychiatric illnesses seem very different — schizophrenia, bipolar disorder, autism, major depression and attention deficit hyperactivity disorder. Yet they share several genetic glitches that can nudge the brain along a path to mental illness, researchers report. Which disease, if any, develops is thought to depend on other genetic or environmental factors.
The first large and comprehensive study of the genetics of a common lung cancer finds that more than half the tumors from that cancer have mutations that might be treated by new drugs that are already in the pipeline or that could be easily developed. For the tens of thousands of patients with that cancer — squamous cell lung cancer — the results are promising because they could foretell a new type of treatment in which drugs are tailored to match the genetic abnormality in each patient, researchers say.
Among the many mysteries of human biology is why complex diseases like diabetes, high blood pressure and psychiatric disorders are so difficult to predict and, often, to treat. An equally perplexing puzzle is why one individual gets a disease like cancer or depression, while an identical twin remains perfectly healthy.
Linda Griffith was at a conference in Singapore in early January when she felt a lump in her breast. She assumed it was nothing — a cyst. And anyway, she had no time for it. She was returning on a Sunday night and the next Tuesday morning was leaving for a conference in Florida.
Clinton T. Rubin knows full well that his recent results are surprising — that no one has been more taken aback than he. And he cautions that it is far too soon to leap to conclusions about humans. But still, he says, what if?