Cure Dhdds

Cure DHDDS is a charity set up to support families affected by DHDDS mutations and help drive research into it. As DHDDS mutations with neurological manifestations were only deemed pathogenic in 2021 very little is known about the biochemical underpinning of this disease. The main symptoms exhibited in over 85% of patients from clinical studies by Serena Galosi at Sapienza University are tremor, myoclonus, learning difficulties and seizures. Over 70% also suffer with ataxia. These clinical symptoms can range from mild to severe. DHDDS gene mutations with neurological consequences seem to fall on the intersection of Congenital disorders of glycosylation (CDG’s) and inherited storage diseases, some scientists are framing both DHDDS mutations and NUS1 heterozygous variants as cis-prenyltransferase disorders. Our vision is a world where there is a cure for everyone with a DHDDS and NUS1 variant. We are looking to connect with families who have been affected by the DHDDS and NUS1 gene mutations and scientists / researchers who are working in this field.