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This #Rarechromoday, we want to share the story of the Dixon family They've recently discovered that two of their children have a rare #DHDDS gene mutation after having #WholeGenomeSequencing. They have set up Cure DHDDS to reach out to other families like them. Please share!

Doc Martin and EastEnders actor Joe Absolom joined us to talk about his niece and nephew’s rare genetic condition and told us why more research needs to be done. For more information go to: curedhdds.org Steph McGovern | Cure DHDDS | #StephsPackedLunch

Tom and Rosie Dixon are two of only 70 people in the world diagnosed with a rare genetic mutation with effects similar to Parkinson's disease and for which no treatment exists. Their parents are fighting back. trib.al/uWvOfP3

Fantastic to see our new members, Cure DHDDS on our feed this morning via ABC News raising awareness of DHDDS gene mutation and shining a spotlight on the genetic and rare community!

🧵Rare Neurology-CNS Partnering Event by Ron Jortner’s Aspire Biosciences Cavernoma Alliance UK @cavernomauk CCHS Network Cure DHDDS Cure DHDDS DHX30 United Kabuki syndrome Kabuki Syndrome Foundation Neuroacanthocytosis Advocacy for Neuroacanthocytosis Patients Ring chromosome 20 syndrome Ring20UK SLC6A1 Amy and Friends

Support #FrancesChangedMyLife this #RareDiseaseDay! Help kids & families facing DHDDS. Donate to Cure DHDDS —100% of proceeds go to Frances & CureDHDDSUSA!!! PORTUGAL THE BEER

Mel is looking forward to being part of the Global Genes Rare Advocacy Exchange Patient Summit with fellow DHDDS advocate and Portugal. The Man singer Zoe Manville, and host of The Special Needs Mom Podcast Kara Ryska. March 10th at 6pm GMT. globalgenes.org/rare-advocacy-…