Every Friday we post a blog on a topic related to genetic medicine. You can find our new posts on Twitter under the hashtag
#TGMIFriday. You can also sign up to get our blog posts direct to your email inbox. Please contact us if you have any suggestions for topics we should address.
Simple processes that allow rapid publication of useful research outputs are essential for genetic medicine to work. Read about a new publishing platform making this happen.
Medical software has to be accurate and reliable. How is this achieved? Verification is a key step, find out why in today's post
Graeme Black is Professor of Genetics and Ophthalmology at the University of Manchester. In this interview he talks about his reasons for joining the TGMI, and his views on the future of genetic medicine.
This week we show why studying rare genetic conditions is hugely valuable and endlessly rewarding.
The TGMI introduce the ICR96 exon CNV validation series, a benchmarking set for a tricky but vitally important mutation type
OMIM celebrated the 50th anniversary of the first publication of Victor McKusick's visionary catalog of Mendelian phenotypes and (later) genotypes.
TGMI team member Anthony Renwick talks about his work in genetics, and shares his views on the role of the TGMI in genetic meidicine.
Mainstreaming genetic testing in children with overgrowth and intellectual disability (OGID) would be a powerful and practical first-line tool in the diagnosis and management of OGID. Find out why in today's post
A promising gene therapy will no longer be marketed, despite its effectiveness. Why? And how can we develop the appropriate processes needed to deliver gene therapy.
Sharing individual genome data with research participants, doctors and researchers has logistical, ethical and legal implications. Read more in today's post
A brief update from the TGMI and a chance to catch up on some of our most popular blog posts from earlier in the year.
Elspeth Bruford talks about her work at the HUGO Gene Nomenclature Committee (HGNC) and why its aims are so closely aligned with the TGMI.
Inconsistency is rife throughout genetic medicine. Why? And what can we do about it?
Implementing fixed, universally-used gene symbols is a central aim of the TGMI. Find out why this is so important in todays' blog.
Read about the vital statistically rigourous methods the Deciphering Developmental Disorders use to determine which new mutations cause disease.
Elise Ruark talks about her role as statistician and bioinformatician on the TGMI team, and the importance of open resources for the future of genetic medicine.
Is it true that 80% of rare diseases are genetic? We tried to track down the origin of this oft-used statement. It was a surprising journey.
The pioneering Deciphering Developmental Disorders study is showing how important new (de novo) mutations are in causing genetic conditions.
Genetic testing used to be driven by medicine. But cheap DNA sequencing now offers an opportunity to use genetic testing to drive medicine. How do we achieve this?
It is essential that the invaluable legacy genetic medicine data and processes are integrated into current and future practice. Learn why in today's blog.