Mobile Menu

Search Results

Search results for: Genetic Variants

Arbitrary age limits on ALS genetic testing means many patients go missed

Written by Lauren Robertson, Science Writer. A new study in the journal Brain has found that as many as 98% […]

Rapid genetic screening in neurological disorders using CRISPR

Written by Liam Little, Science Writer A recent article, published in Nature Neuroscience, aimed to understand the emerging roles of […]

A Spotlight On: Variants of uncertain significance – Kimberly Gilmour

Kimberly Gilmour is Director of Laboratory Medicine at Great Ormond Street Hospital for Children. She utilises next generation sequencing and […]

Lupus variants identified with whole-genome sequencing in Chinese patients

A new study has identified key rare variants in systemic lupus erythematosus (SLE) in a Chinese population for the first […]

Rare cases of high genetic mutation linked to fathers’ chemotherapy

A study published in Nature by scientists from the Wellcome Sanger Institute and elsewhere, indicates that some rare cases of […]

Do Some Smokers Develop Genetic Defences Against Lung Cancer?

Written by Charlotte Harrison, Science Writer  Cigarette smoking is the leading cause of lung cancer, but only a minority of […]

Rapid Nanopore Sequencing Finds Disease-Causing Variants in Under 8 Hours

Written by Charlotte Harrison, science writer  Whole-genome sequencing can identify genetic variants that cause disease, but the time needed for […]

A Spotlight On: Genetic Counsellors and Adapting Services – Beth Coad, Principal Genetic Counsellor

Beth Coad is a Principal Genetic Counsellor at St George’s Hospital in London. She is also a part-time Honorary Clinical […]

Sepsis-Associated Variants Integrated into Polygenic Risk Score

Written by Vered Smith, Science Writer  Researchers at the University of Michigan have published a study in PLOS ONE identifying […]

Down the Rabbit Hole: The Genetics of Speech and Language – Dianne Newbury, Senior Lecturer

Dr Dianne Newbury is a Senior Lecturer and Researcher at Oxford Brookes University, UK. Dianne’s research focusses on speech and […]