Blog

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.

Blog


scientific publishing road blocks
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.

Scientific publishing in genetic medicine


software verification
Medical software has to be accurate and reliable. How is this achieved? Verification is a key step, find out why in today's post

Medical software verification


Graeme Black
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.

The TGMI Team – Graeme Black





OMIM
OMIM celebrated the 50th anniversary of the first publication of Victor McKusick's visionary catalog of Mendelian phenotypes and (later) genotypes.

OMIM – fifty years and counting



Anthony Renwick
TGMI team member Anthony Renwick talks about his work in genetics, and shares his views on the role of the TGMI in genetic meidicine.

The TGMI Team – Anthony Renwick


OGID
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

Mainstreaming genetic testing in OGID


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.

Can we make gene therapy work?



Sharing individual genome data with research participants, doctors and researchers has logistical, ethical and legal implications. Read more in today's post

Sharing Genome Data


TGMI spring image
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.

TGMI spring update


Elspeth Bruford talks about her work at the HUGO Gene Nomenclature Committee (HGNC) and why its aims are so closely aligned with the TGMI.

The TGMI Team – Elspeth Bruford




Implementing fixed, universally-used gene symbols is a central aim of the TGMI. Find out why this is so important in todays' blog.

Stabilising gene symbols


Read about the vital statistically rigourous methods the Deciphering Developmental Disorders use to determine which new mutations cause disease.

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.

The TGMI Team – Elise Ruark


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.

How many rare diseases are genetic?




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?

Changing direction in genetic testing