10 Cure Roadmaps
10 Cure Roadmaps
Since September 2021, Perlara Cure Guides have produced ten Cure Roadmaps for families and foundations. In 2023, we will to continue to improve the product while making it more self-service over time.
1
The Cure Roadmap for Shwachman Diamond Syndrome (SDS) was commissioned by a founder parent Julia Hawkins and Trustee of SDS UK, a Registered Charity.
2
The Cure Roadmap for PLOD1-kEDS, a form of Ehlers-Danlos Syndrome affecting collagen production, was authored by Dr. Victoria Blake and Dr. Shiri Zakin and commissioned by a family from Mexico now living in Israel.
3
The Cure Roadmap for Multicentric Carpotarsal Osteolysis (MCTO) was authored by Dr Martha Klovstad and Dr Michelle Dookwah-Smith and commissioned by Sophie’s Neighborhood, a foundation based in Colorado.
4
The Cure Roadmap for KCNH1-Associated Neurodevelopmental Disorders was authored by Dr Tracy Gertler and Dr Whitney Dolan and commissioned by Cure KCNH1 Foundation based in California.
5
The Cure Roadmap for CACNA1A-related Disorders was authored by Dr. Ali Althaus, Dr. Sej Chung, and Dr Sam Finlayson and commissioned by the CACNA1A Foundation.
6
The Cure Roadmap for mtDNA Deletion Diseases was authored by Justin Donnelly and Dr Shiri Zakin and commissioned by the Cavan McGovern Family Research Fund at the United Mitochondrial Disease Foundation (UMDF).
7
The Cure Roadmap for Malan Syndrome was authored by Dr Victoria Blake and Dr Jerome Korzelius and commissioned by the Malan Syndrome Foundation.
8
The Cure Roadmap for HNRNPH2-related Neurodevelopmental Disorders was authored by Dr Courtney Banks and Dr Arun Ramani and commissioned by To Cure a Rose Foundation based in Texas.
9
The Cure Roadmap for 8p Chromosome Disorders was authored by Dr Ethan Perlstein and Dr Nathan Pearson and commissioned by Project 8p Foundation, which represents hundreds of 8p heroes around the world.
10
The Cure Roadmap for PURA Syndrome was authored by Dr Barbara Celona and Dr Carole Shum and commissioned by Jack’s Tomorrow, a foundation based in New York.
