Find out all the latest news and information on DHDDS here

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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 

If you are in Europe, please see our partners based in the UK

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 

Cure DHDDS have just signed a contract for research into models at CHU Sainte Justine university Montreal.

Perlara drug repurposing contract signed 

Cure DHDDS and Cure DHDDS USA have recently signed a contract for drug repurposing screen with Perlara.
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Cure DHDDS Raise awareness on American TV

Cure DHDDS have been raising awareness of the ultra rare disease on both ABC News and Good Morning America this month.

Cure DHDDS on ITV London Tonight 

Uncle and charity Patron, Joe Absolom appeared on London Tonight to raise awareness of the Cure DHDDS Charity and the ultra rare condition.

Mel Dixon speaks at Beacons Conference 2023

Click the play button to hear Cure DHDDS founder Mel Dixon speaking at Beacons rare disease conference in June 2023.
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Cure DHDDS Proud to reveal new short film

Cure DHDDS is proud to reveal its short film on DHDDS symptoms which the charity hopes will help to raise awareness and understanding of the condition.

Produced by: Cine Schools


Biotin as a new therapeutic approach?

Reduced Biotinidase Activity in Patients with congenital disorders of glycosylation (CGD)

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.