Reports

Genomics will change what patients expect from their provider, as well as change how physicians treat them. Before this happens, education on both sides is needed. This month we look at some of the big talking points.

International Study Finds 11 New Epilepsy Genes

Eleven new genes associated with epilepsy have been discovered by an international team of scientists, advancing knowledge of the underlying causes of the condition and potentially helping in the development of new treatments.

Reprogrammed Skin Cells Shrink Mouse Tumours

Personalised tumour-detecting cells from adult skin cells have been used to shrink brain tumours in mice by up to 5%, scientists have revealed. While the strategy has not yet been fully tested in people, it could in the future give doctors the ability to develop a custom treatment for certain cancer types.

Genetic Heart Test Used to Identify Risk of Severe Cardiomyopathy

Scientists from the University of Pennsylvania have created a test using gene-editing tools such as CRISPR to identify a gene variant responsible for severe hypertrophic cardiomyopathy (SHC). SHC is an often-familial disease which thickens heart walls and is linked to a variant in the TNNT2 gene.

ClinGen Gets FDA Recognition

The US Food and Drug Administration (FDA) announced ClinGen as the first FDA-designated public genetic variants repository this week.

Scientists Create Ten-Minute Universal Test for Cancer

A universal test which can detect traces of any cancer in a patient’s bloodstream in ten minutes has been developed by scientists from the University of Queensland. As it stands the test has a sensitivity of 90%, so is able to detect 90 in 100 cases of cancer.

Alzheimer’s-Linked Gene Could be Re-shuffling its Own DNA

APP, the gene responsible for making beta-amyloid in the brain, may be able to reshuffle its own DNA, scientists from Sanford Burnham Prebys Medical Discovery Institute in California have claimed. This development could explain why most drugs to treat Alzheimer’s, which are designed to remove beta-amyloid protein build-ups in the brain, have proven ineffective in clinical trials.

Defective DNA Repair Leads to Genome “Chaos”

Scientists have found a cause for the frequent and damaging events in cancer cells’ genetic material where sections of individual chromosomes were broken at a number of points and reassembled wrongly, so entire sections were missing and others were duplicated or incorporated in a wrong orientation.

Tiny Bio-Scaffold Could Perfect Stem Cell Transportation

A minuscule, biodegradable scaffold has been created to transplant stem cells and deliver drugs within the body, the Nature Communications journal has reported, which could help with treatments for Alzheimer’s and Parkinson’s diseases, as well as aging brain degeneration and spinal cord injuries.