Articles about 'Department of Medical Genetics'

Seven Cambridge University researchers are among the 59 biomedical and health researchers elected to the Academy of Medical Sciences Fellowship.

Self-confessed ‘nerd’ Serena Nik-Zainal went from hospital wards to the laboratory on a mission to provide patients with the best possible treatment for their illnesses. Ten years later she is at the forefront of genomic research, creating tools for clinicians which are transforming patient care.

DNA damage caused by factors such as ultraviolet radiation affect nearly three-quarters of all stem cell lines derived from human skin cells, say Cambridge researchers, who argue that whole genome sequencing is essential for confirming if cell lines are usable.

A major study of children with intellectual disabilities has highlighted the additional challenges that they often face, including a much-increased likelihood of being diagnosed as autistic, as well as Attention Deficit Hyperactivity Disorder (ADHD) and other mental health difficulties.

DNA analysis of thousands of tumours from NHS patients has found a ‘treasure trove’ of clues about the causes of cancer, with genetic mutations providing a personal history of the damage and repair processes each patient has been through.

Faulty versions of the BRCA1 and BRCA2 genes are well known to increase the risk of breast cancer in men and women, and in ovarian cancer. Now BRCA1 and BRCA2 have been linked to several other cancers, including those that affect men.

Whole genome sequencing from a single blood test picks up 31% more cases of rare genetic disorders than standard tests, shortening the ‘diagnostic odyssey’ that affected families experience, and providing huge opportunities for future research.

Experts have warned that a ‘no deal’ Brexit will result in the exclusion of the UK from the 24 European Reference Networks (ERNs) that were established to improve the care of patients bearing the lifelong burden of a rare disease, which require highly specialised diagnosis and treatment.

DNA sequencing has defined a new genetic disorder that affects movement, enabling patients with dystonia — a disabling condition that affects voluntary movement — to be targeted for treatment that brings remarkable improvements, including restoring independent walking.

When is a rare disease not a rare disease? The answer: when big data gets involved. An ambitious new research project aims to show patients that they are not alone.