A disorder caused by a mutation in a single gene. For example, cystic fibrosis which is caused by mutations in the CTFR (cystic fibrosis transmembrane conductance regulator) gene.
Dr Emma Meaburn explains what polygenic scores are, and what they can and cannot tell us about a person's risk of – or resilience to – a complex trait...
Genomics has the potential to reshape the NHS into a more proactive, cost-efficient, and patient-responsive system, writes Zeenat Beebeejaun. But it can only do so if built on a foundation of trust, transparency, and fairness...
A new gene therapy, Casgevy, has been recommended for use on the NHS in England for people living with a severe form of beta-thalassaemia...
The UK National Institute for Health and Care Excellence (NICE) has published draft guidance recommending against the use of a new gene therapy for haemophilia B on the NHS...
A CRISPR-based form of genome editing that can replace entire genes may offer a new way to treat some genetic diseases...
The Progress Educational Trust, in partnership with the Scottish Government, brought together a group of experts to cut through the hype and jargon and explain the latest developments in genetics/genomics in the context of assisted conception...
To celebrate Gregor Mendel's 200th birthday, PET and Genomics England held an event reflecting on what science and medicine have inherited from Mendel and what the future holds regarding our understanding and treatment of genetic disorders in the era of whole genome sequencing...
A consortium has been established to support US researchers in innovating and implementing state-of-the-art techniques to understand the genetic causes of single-gene diseases...
After a mere 22 years of study, researchers in the Netherlands have finally pinpointed the genetic cause behind one type of hearing loss. This sounds potentially ground-breaking, so I was excited to learn more about the story in the 'Deafness Gene Identified' podcast, by The Naked Scientists...
A new extreme subtype of polygenic type 1 diabetes has been identified in infants under six months of age...
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