A recent study in Cancer Genetics, International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma, is important for GIST patients who carry a germline SDHB mutation
Two new studies were published in July and August 2021 focusing on SDH-deficient tumor models and how location can affect GIST tumor profiles and drug sensitivity.
The LRG worked with the NIH to create a collaborative model to serve the needs of Pediatric & SDH patients, hosting a virtual tumor board on June 25th to replace the in-person Pediatric & Wildtype Clinic which the NIH holds annually.
The Life Raft Group celebrated GIST Awareness Day 2021 by holding an virtual, interactive Q&A session for SDH-deficient GIST patients with leading experts in the field.
This study strongly recommends genetic testing and regular biochemical testing and clinical exams for SDHx mutation carriers.
The LRG will be collaborating with the NIH again in 2021 to hold the Virtual GIST Tumor Board in place of the NIH's Pediatric & Wildtype GIST Clinic normally held in the DC area. Applications to have cases reviewed are now open.
Over fifty participants attended a virtual meeting of SDH Experts in honor of GIST Awareness Day, July 13th, during Virtual Life Fest 2020. Questions were presented to the panel which included One of the first questions asked was “what specifically are your most challenging research hurdles and how can we, as patients and patient advocates from around the world help move research forward?”
Partnerships and collaborations are critical to the progress of research in rare diseases. GIST specialist & Pediatric & SDH-Deficient GIST Consortium member, Dr. Jason Sicklick, and LRG member, Debra Melikian, are working together find a cure for succinate dehydrogenase-deficient gastrointestinal stromal tumors (SDH-deficient GIST), a hereditary rare cancer syndrome which claimed the lives of Debra’s husband and her son Merak.
Deb Melikian, patient advocate, and Dr. Jason Sicklick, GIST expert & researcher, share the story of their unique partnership which began at an LRG GIST Day of Learning in the rare partners issue of RARE Revolution Magazine.
Sara Rothschild, LRG VP Program Services, met with Othon Iliopoulos, MD, Harvard Medical School/Massachusetts General Hospital Cancer Center, to discuss how to understand and make progress in SDH-related diseases.