Experiences with

Dyskeratosis congenita

cond=Dyskeratosis+Congenita&draw=2&rank=1 Or contact the researchers camella.rising@nih.gov or DC Action for independent advice.

Many families affected by dyskeratosis congenita (DC) don’t know which genetic variant has caused it. Scientists have now identified a gene, RPA1, which when overactive can cause short telomeres and symptoms of DC. There are now 15 genes which when mutated can cause DC- check out .

Dr Kasiani Myers, from Cincinnati has treated the first patient with DC-related bone marrow failure, with an experimental new gene therapy (EXG34217) The trial is in its very early, safety testing stages but we hope that the treatment will help treat bone marrow failure (low blood counts) The trial is

The aim of this community is to provide a supportive, informative and friendly community for people affected by dyskeratosis congenita or telomere related conditions. By using the community you agree to post information that is primarily drawn from your personal experience.