Testing

Direct to consumer testing can potentially be quite dangerous without appropriate regulations and support to fully understand the implications of the information a consumer receives.

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.

CRUK and AstraZeneca to Launch New Genomics Centre in UK

AstraZeneca and Cancer Research UK (CRUK) have announced that they will work together to open a new research centre in the UK, applying CRISPR and other functional genomics technologies to develop new cancer drugs. Specifically, the centre will study how genes and proteins interact with each other in cancer cells, and create disease models using genome-altering technologies based on this.

ClinGen Gets FDA Recognition

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

Blocking One Gene Could Cure Obesity

Scientists in South Australia have announced in the EMBO Reports journal that they may have found a single gene which can be blocked to promote weight loss without the need for diets or gym time.

Mitochondrial DNA Can be Inherited from Fathers

Despite what was previously thought, some mitochondrial DNA can be inherited from fathers as well as mothers, scientists have found. A study, published recently in PNAS, began when the Cincinnati Children’s Hospital Medical Centre tested a child showing signs of fatigue and muscle pain to see if he had a mitochondrial disorder.

Molecular Diagnostics Report

Read our report on all things Molecular Diagnostics, including some great contributed articles. Need to know about liquid biopsies? Want to know what the current regulatory landscape looks like? Then you’ve come to the right place.

Weekend Reads

This week: Are the conclusion about ‘alien’ mummy, Ata correct? Where is the African DNA in the search for cures? And is it possible to bury family secrets in the age of DNA testing?