Science and Health News

The first children to receive a genetic diagnosis through the 100,000 Genomes Project have been given their results at Great Ormond Street Hospital (GOSH), part of the North Thames Genomic Medical Centre (NTGMC.) The results, which pinpoint changes in different single genes as the cause of two previously undiagnosed conditions, come from the first wave of families recruited as part of the pilot phase of the project. These patients came from across the UK, some travelling long distances in order to take part in the rare genetic disease aspect of the pilot, which was led by GOSH.

As nations across the globe marked World Cancer Day on February 4, the Skolkovo Foundation announced the creation of a new Cancer Centre of Excellence. The new centre is set to coordinate the work of all the startup companies and partners currently working independently within the foundation’s biomedicine cluster to combat the disease. «There are many aspects to the fight against cancer: medical, organisational, psychological and legal to name just a few," says Kristina Khodova, Skolkovo’s project manager for oncology and immunology within the biomedicine cluster, who will head the new united centre.

In a study, published today in the EMBO Journal and led by Dr João Passos at Newcastle University, they found that when mitochondria were eliminated from ageing cells they became much more similar to younger cells. This experiment was able for the first time to conclusively prove that mitochondria are major triggers of cell ageing. This brings scientists a step closer to developing therapies to counteract the ageing of cells, by targeting mitochondria.

WASHINGTON — Conducting clinical investigations of mitochondrial replacement techniques (MRT) in humans is ethically permissible as long as significant conditions and principles are met, says a new report from the National Academies of Sciences, Engineering, and Medicine. One of those conditions, among many laid out in the report, is that initial MRT clinical investigations should be limited to women who are at risk of transmitting a severe mitochondrial genetic disease that could lead to a child’s early death or substantial impairment. Another is that in initial clinical investigations only male embryos created through MRT should be allowed to be placed in a woman for a possible pregnancy.

Regular consumption of coffee was linked with a reduced risk of liver cirrhosis in a review of relevant studies published before July 2015. In patients with cirrhosis, the liver becomes scarred often as a result of long-term and persistent injury from toxins like alcohol and viruses like hepatitis C. It can be fatal because it increases the risk of liver failure and cancer. The analysis found that an extra 2 cups of coffee per day may reduce the risk of cirrhosis by 44%, and it may nearly halve the risk of dying from cirrhosis.

The Y chromosome is a symbol of maleness, present only in males and encoding genes important for male reproduction. But a new study has shown that live mouse progeny can be generated with assisted reproduction using germ cells from males which do not have any Y chromosome genes. This discovery adds a new light to discussions on Y chromosome gene function and evolution. It supports the hypothesis that Y chromosome genes can be replaced by that encoded on other chromosomes.

ROCHESTER, Minn. — Researchers at Mayo Clinic have shown that senescent cells — cells that no longer divide and accumulate with age — negatively impact health and shorten lifespan by as much as 35 percent in normal mice. The results, which appear today in Nature, demonstrate that clearance of senescent cells delays tumor formation, preserves tissue and organ function, and extends lifespan without observed adverse effects.

Scientists at The University of Manchester have discovered a new genetic syndrome of obesity,over-eating, mental and behavioural problems in six families, from across the world. Dr Siddharth Banka, Clinical Senior Lecturer at the Manchester Centre for Genomic Medicine, who led the study, explained: «Our team has identified that this new syndrome is caused by a small deletion on chromosome 6 that affects the function of hypothalamus, a region of the brain that plays a number of important roles in the body.»