Do you know about whole genome or whole exome sequencing? Well, home genetic tests were just the start of a genetics revolution. Sequencing might be in your future, sooner than you’d think. Read on for more information on this hot … Continued
Precision medicine, sometimes called personalized medicine, uses a person’s genetic data to choose the best treatments. Will it create treatments for the 80% of rare diseases that are genetic? Read more about where this source of investigation is heading in … Continued
Around 80% of rare diseases have a genetic cause. Many of these diseases have no good treatment options, but gene therapy might help. So what is gene therapy, and how does it work? Raremark have produced an article we think … Continued
Many of you will recall that we have been supporting St George’s Hospital’s research into disorders of the Lymphatic system associated with Noonan Syndrome. The charity put in some pump priming funds with the longer term aim of this leading … Continued
We have had a message from GenIDA asking for our help in getting the number of participants in the GenIDA database up from 60 to over 100. This is perfectly possible if just a few more of you could complete … Continued
Some of you will recall we mentioned this last year and several members completed the survey shared by the Federacion Española Síndrome de Noonan y Otras Rasopatías (Federas), our counterpart organisation in Spain. This survey was produced as part of … Continued
Members of our medical advisory group work in collaboration with The European Reference Network on Congenital Malformations and Rare Intellectual Disability – thankfully known as ERN-ITHACA to progress research. Just for your information the organisation has been supporting research in … Continued
The University of Manchester Centre for Genomic Medicine as part of their membership of the European Reference Network on Congenital Malformations and Rare Intellectual Disability – (ERN-ITHACA) have produced a survey aimed at finding out more about the research experiences … Continued
