MGRC

Scientists at MIT and Harvard University have finally figured out how the key gene tied to obesity makes people fat, a major discovery that could open the door to an entirely new approach to the problem beyond diet and exercise. The FTO gene turns out to influence obesity indirectly, as a master switch that affects two other genes that control thermogenesis, or burning off energy. Experiments reveal that a faulty version of the FTO gene causes energy from food to be stored as fat rather than burned.

There is no doubt that the time is right for a large precision medicine cohort of 1 million people or more due to advances in scientific knowledge, technology and computing, empowerment of patients and the general public, and existing resources of millions of people who already participate in ongoing cohort studies. At a recent workshop, NIH director Dr Francis Collins used examples of early success such as pharmacogenomics tests, new therapeutic targets for common diseases, insights into resilience and healthy aging, and new ways to evaluate m-Health technologies for chronic disease management.

The first project to sequence whole genomes from mountain gorillas has given scientists and conservationists new insight into the impact of population decline on these critically endangered apes. Researchers interested to learn how such a small gene pool would affect the mountain gorillas were surprised to find that many harmful genetic variations had been removed from the population through inbreeding, and that mountain gorillas are genetically adapting to surviving in small populations.

A new study in mice by researchers at Washington University School of Medicine in St Louis has shown that the DNA of bacteria that live in the body can pass a trait to offspring in a way similar to the parents’ own DNA. According to the authors, the discovery means scientists need to consider a significant new factor, the DNA of microbes passed from mother to child, in their efforts to understand how genes influence illness and health.

Up to 8 percent of people from India, Pakistan, Bangladesh and other South Asian countries carry a mutated gene that causes heart failure and potentially fatal heart attacks. Results could point the way to eventual treatments and prevention strategies for an estimated 55 million people of South Asian descent worldwide.

A group of scientists have performed whole-genome sequencing on 17 of the world’s 74 remaining supercentenarians (110 years or older) to explore the genetic basis underlying extreme human longevity. The entire list of rare protein-altering variants and DNA sequence of all 17 supercentenarian genomes is available as a resource to assist the discovery of the genetic basis of extreme longevity in future studies.

A collaborative research team led by the Medical College of Wisconsin scientists has identified a new gene, called Tpcn2, which is associated with fasting glucose and insulin levels in humans, rats and mice. Tpcn2 is a lysosomal calcium channel that likely plays a role in insulin signalling. Glucose tolerance, insulin resistance and beta cell dysfunction are key underlying causes of type 2 diabetes.

Researchers from the Broad Institute and Harvard University, in collaboration with the Sierra Leone Ministry of Health and Sanitation and other researchers across institutions and continents, have rapidly sequenced and analysed more than 99 Ebola virus genomes. Their findings could have important implications for rapid field diagnostic tests to combat the unprecedented Ebola outbreak in West Africa.

Scientists have taken an important step towards a permanent cure for AIDS by using specially designed enzymes to physically cut the HIV virus out of an infected human genome. The treatment could be a breakthrough in the search of a cure for AIDS, but researchers warned that there are still plenty of significant hurdles.

A recent study updates the number of human genes to 19,000. This figure is 1,700 fewer than the genes in the most recent annotation, and well below the initial estimations of 100,000 genes. The work also concludes that almost all of these genes have ancestors prior to the appearance of primates 50 million years ago.