Find out all the latest news and information on DHDDS here


Cure DHDDS Win Award for Excellence in Medical Affairs-Led Scientific Exchange

We are very proud to announce that the Cure DHDDS Inaugural Scientific Exchange Meeting organised by Costello Medical has won the Communique Excellence In Medical Affairs-Led Scientific Exchange Award for 2024.
"Cure DHDDS Inaugural Scientific Exchange Meeting’ is an effective and incredibly important programme in an area of such unmet need. The judges could really feel the team’s passion for finding a cure coming through and were impressed by what was achieved with a modest budget. An example of real scientific exchange and a deserving winner."  - Judges Comments
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Cure DHDDS Founder and mum to two children with DHDDS Mel Dixon was guest speaker at the ORPHAN DRUGS & RARE DISEASES GLOBAL CONGRESS 2024 on April 11th.

Cure DHDDS in the Press!

Cure DHDDS features in the Independent, Daily Mail and The Sun.

Founders of Cure DHDDS USA Share interviewed for  WLKY News

Zoe Manville and John Gourley Founders of Cure DHDDS USA, members of the band Portugal. The Man and most importantly parents to Frances who has a DHDDS mutation use their platform to raise awareness not just for DHDDS but all rare diseases. They share their story here with WLKY news.

Perlara Drug Repurposing screen update

We’re excited to announce that DHDDS gene mutations had hits from Perlara’s drug repurposing yeast screen. These will now be validated in patient fibroblasts but we hope this can pave the way for therapeutic interventions that target the cause of the symptoms DHDDS individuals experience.

Cure DHDDS Virtual Conference: Summary Report

Click on the link below to see a summary of the virtual conference hosted by Costello Medical. We very much hope that by bringing the scientific community together we can expedite research into these ultra rare mutations.

Mel Dixon to speak at Festival of Genomics in 2024

We are pleased to announce that our founder Mel Dixon will be speaking at the Festival of Genomics on 24th January 2024 about her race against time to find a treatment for the ultra rare DHDDS mutations.

Medical Podcast features DHDDS parents & advocates from Portugal.

The latest House of Pod: A Medical Podcast features our wonderful fellow DHDDS parents and advocates John and Zoe from Portugal. The Man discussing with Dr. Stan Crooke of the N-Lorem Foundation and Dr. Kaveh Honda MD, the challenges of having a child with a nano rare disease. Please listen if you can. This podcast not only takes you on the heartfelt journey of having a child with an ultra rare disease, but also looks at their hopes for an ASO therapy with N-Lorem and highlights the importance of genomics in medicine.  

First DHDDS Virtual Conference - September 2023

Cure DHDDS is proud to announce its first virtual conference on September 21st 2023. The event will be hosted by Costello Medical and gives the opportunity for leading international scientists to come together to discuss current and future research.

Cure DHDDS features in SW Londoner  

Cure DHDDS charity features in SW Londoner discussing its fundraising and research aims and achievements to date.
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Launch of Cure DHDDS USA 

Fellow DHDDS parents Zoe Manville and John Gourley are to launch Cure DHDDS USA. We are very excited by the launch of Cure DHDDS USA - website:

We have been working with Zoe and John 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.

Cure DHDDS Patron on Channel 4

Cure DHDDS Patron and uncle to two DHDDS siblings Joe Absolom speaks out on Steph’s Packed Lunch on Channel 4 about the challenges faced by individuals with DHDDS mutations.

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.

Charity founders in South East Genomics article

Cure DHDDS founders Mel and Charlie Dixon feature in South East Genomics article discussing the struggles and opportunities that come with an ultra rare genetic diagnosis.