To solve the molecular genetics of an unknown genetic disorder usually two or more unrelated patients with the same phenotype and mutations in the same gene are required. However, as most of these disorders are so rare it is really difficult to find enough patients to screen for.
Now more and more people are using GeneTalk to find a colleague with a patient that has a rare mutation in the same gene. We think that is a great idea and helped by adding some de novo variants from the group in Nijmegen, that they suspect to be highly likely disease causing. Check out the recent annotations and comment on them! We are curious who is gonna be the first to find a second patient on www.gene-talk.de!