News
Find out all the latest news and information on DHDDS here
Cure DHDDS and Cure DHDDS USA founders feature in Global Genes rare advocacy exchange
UK & USA founders Mel Dixon and Zoe Manville both spoke recently at the Global Genes advocacy exchange discussing the topic "When Leadership is Thrust Upon You ".
You can read the the full article here
Cure DHDDS & Cure DHDDS USA to sign second year contract with Mount Sinai Hospital to continue brain organoid investigations.
“Brain organoids are three-dimensional (3D) structures derived from human pluripotent stem cells (hPSCs) that reflect early brain organization. These organoids contain different cell types, including neurons and glia, similar to those found in the human brain. Human brain organoids provide unique opportunities to model features of human brain development that are not well-reflected in animal models. Compared with traditional cell cultures and animal models, brain organoids offer a more accurate representation of human brain development and function, rendering them suitable models for neurodevelopmental diseases. In particular, brain organoids derived from patients’ cells have enabled researchers to study diseases at different stages and gain a better understanding of disease mechanisms.”
Source
Int J Mol Sci
. 2023 Aug 7;24(15):12528. doi: 10.3390/ijms241512528.
Mount Sinai are also seeing a number of DHDDS and NUS1 patients in clinic who are being evaluated with regular ICARS scores alongside real world data provided by families to test the efficacy of Perlara’s drug repurposing screen hit NMN on DHDDS patients. If you are interested in joining this study please email mel@curedhdds.org for more information.
Cure DHDDS work with The READY Center at UCSF
We are now working with The READY Center at UCSF who will leverage stem cell-derived neurons and systems biology approaches (e.g. AP/MS) to map and functionally characterize the protein-protein interactions of DHDDS and NUS1. This work will lead to the development of stem cell lines and datasets that will 1) improve the understanding of how clinical variants in these proteins change cell function/health and 2) identify new pathways and targets for therapeutic development.
Cardiff University identify possible theraputic option for DHDDS patients
Investigations at Cardiff University have shown that treatment of DHDDS cells - with the approved NPC small molecule therapy miglustat - improves these disease-associated phenotypes, identifying a possible therapeutic option for DHDDS patients. These data suggest that treatment options currently approved for NPC disease may be translatable to DHDDS/NUS1 patients.
Jackson Labs create partially humanised mutation mouse model.
Jackson Labs have now created a partially humanised R205Q DHDDS mutation mouse model. This is in addition to the DHDDs mouse model Arg37his that is already being studied at Montreal university. Having multiple disease models is helping us to gain a better understanding of DHDDS mutations.
Fuel It Still - by Ethan O. Perlstein, Ph.D.
Boosting levels of the metabolic fuel NAD+ rescues DHDDS deficiency in a yeast avatar. Just one spark from a bolt of genetic lightning can ignite an inherited metabolic disease that wreaks havoc across metabolism...read more
3rd International Scientific Exchange Meeting - October 2024
In October 2024 we held our third international Scientific Exchange Meeting. This time attended by 43 of the scientists now studying DHDDS gene variants, this is nearly double the number of attendees that attended our first conference in September 2023. These meetings are essential in expediting research and fostering a collaborative research community.
Charlie Dixon’s cycle to raise funds for Cure DHDDS features in the ITV news
We are delighted that Charlie's fund-raising ride was featured on ITV News recently.
Charlie will be cycling from John O’Groats on August 30 and cycle, against the wind, in lab coats through the Scottish Highlands, Lake District, Welsh Borders and Dartmoor, staying at bed & breakfasts along the way, before arriving in Land’s End on September 8.
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
DHDDS Founder Speaks at ORPHAN DRUGS & RARE DISEASES GLOBAL CONGRESS 2024
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.
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: curedhddsusa.org
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.
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.
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.