Researchers have identified two genetic flaws behind a rare variant of facioscapulohumeral muscular dystrophy (FSHD). Read the rest of this entry »

As part of our series on women in science, I contacted several prominent female scientists and asked them some challenging questions about their experiences as women in science.

This month we hear from Dr Lisiane Meira, lecturer in toxicology at the University of Surrey, has worked in research facilities around the world.

Read the rest of this entry »

Scientists have managed to use genetic manipulation to turn off the natural recycling system cancer cells need to grow and spread.

The team from the Albert Einstein College of Medicine discovered cells optimise the process of autophagy to gain the significant levels of energy they require.

Read the rest of this entry »

Scientists have taken the first steps toward creating a new drug to combat premature ageing, which could also potentially reduce the degeneration of some tissues in old age.

By analysing how to limit and repair DNA damage in cells, the team have identified possibilities for treating Laminopathies degerative disorders, including the fatal Hutchinson Gilford Progeria Syndrome (HGPS), which causes children to age up to eight times as fast. Laminopathies are caused by mutations in the LMNA gene. Read the rest of this entry »

New research has revealed that gene mutations are able to predict an early and severe form of kidney disease.

Known as autosomal dominant polycystic kidney disease (ADPKD), which is passed down through family members, the condition eventually leads to failure of the organ and can affect one in 400 to 1,000 people. It is caused by a genetic mutation which disrupts how the kidney develops, with PKD1 accounting for 85 per cent of cases and PKD2 to blame for the remaining 15 per cent, according to the NHS. However, the new research, conducted by Carsten Bergmann and his colleagues from the Bioscientia Center for Human Genetics Ingelheim and RWTH Aachen University, Germany, has shown that severely affected patients have further mutations, along with expected inherited genetic defects.

Read the rest of this entry »