Find out all the latest news and information on DHDDS here
New Patient Registry for Rare Diseases
We are working to organize our new and only patient registry at Sanford Research, A nonprofit research institution, CoRDS is a centralized international patient registry for all rare diseases.
Our UK Partners
We have been working with Mel and Charlie Dixon for some months now developing research opportunities and building on our network of scientific experts. Together we are stronger and can work faster to find a treatment for these ultra rare mutations.
New contract signed for research in Montreal
Perlara drug repurposing contract signed
Cure DHDDS Raise awareness on American TV
Cure DHDDS on ITV London Tonight
Mel Dixon speaks at Beacons Conference 2023
Cure DHDDS Proud to reveal new short film
Produced by: Cine Schools
Biotin as a new therapeutic approach?
Publication: Molecular Genetics and Metabolism
EpiSignature Study into DHDDS Gene Mutation
EpiSignature is a study of genomic DNA methylation patterns (beyond the coding sequences) to differentiate patients with similar or different phenotypes and genetic changes at the DNA coding level.
Genetic changes in the DHDDS gene have been found in some cases to be associated with a progressive course, while in other cases a static course. EpiSignature tries to determine whether there is any significant difference in methylation pattern that could account for such difference, thus potentially providing some insight for progression and prognosis.