MyPART physician and researcher, Dr. John Glod, was recently awarded the NCI Center for Cancer Research Staff Scientist/Staff Clinician Research Award for his research project proposal, “Early Detection of Cancer in Patients with Germline SDH Deficiency.” Through this project, Dr. Glod and his team aim to develop a screening method to detect cancer non-invasively in individuals with mutations in the gene succinate dehydrogenase (SDH) by looking at circulating free DNA and other metabolites in their blood and urine. People with germline SDH mutations have a higher risk of cancer, including pheochromocytoma, paraganglioma, gastrointestinal stromal tumors (GIST), and in rare cases, renal cell cancer. The current approach for monitoring these patients for cancer includes MRI imaging and looking at blood and urine samples. Dr. Glod’s proposed approach to monitor circulating free DNA may allow for earlier detection of cancer in patients with SDH mutations and would be helpful in monitoring individuals who may have a family history of cancer.

Gastrointestinal stromal tumors, or GISTs, are rare tumors that grow in the digestive tract. In 5-7.5% of patients, these tumors have mutations in the gene for SDH (succinate dehydrogenase). GISTs with SDH mutations do not respond to available therapies, such as Gleevec, that are used to treat more common forms of GIST that do not harbor SDH mutations. The Pediatric Oncology Branch has a long history of working with the advocacy organization, The Life Raft Group, to bring GIST patients to the NIH Clinical Center for the Pediatric and Wild Type GIST Clinic. Patients are able to meet with experts from inside and outside of NCI, receive recommendations for their treatment, contribute to clinical research, and share their experiences with each other. NCI's collaboration with The Life Raft Group has been instrumental in bringing patients together and pushing GIST research forward.

Perspectives from The Life Raft Group:

The Life Raft Group has a longstanding commitment to finding effective treatments for young patients with SDH-deficient GIST. From the early days of our collaboration with the NIH to establish the Pediatric and Wildtype GIST Clinic to the creation of our Pediatric and SDH-Deficient GIST Consortium, we have been excited about projects, like Dr. Glod’s, that have the potential to impact this population. “I have been participating in the NIH Pediatric and Wildtype GIST Clinic for over ten years and it is encouraging to see the passion of the NIH faculty offering innovative ideas to accelerate progress in research for this rare disease community,” says Vice President of Programs of the Life Raft Group, Sara Rothschild.

Marcia Young is the Patient Care Coordinator for MyPART. She works with patients and the MyPART clinical team to ensure the patients’ needs are met when visiting the NIH and participating in clinical studies. About her role, Marcia explains, “I love assisting patients, making sure their visit to NIH is going to be comfortable, giving them all the resources needed.  [I also prepare] patient schedules, assist the physicians, fellows, [and nurses]. I find teamwork to be a vital part of my role - assisting other teams when needed.”

Marcia has worked at the NIH for over 10 years in various patient care roles. She was excited to join the MyPART team, “[and] become a great team player [to] utilize my reliability, positive attitude, and my outgoing personality,” with the ultimate goal of improving the patient experience. In her free time, Marcia enjoys spending time with her grandchildren, cooking, and learning to make jewelry.

Each member of the MyPART team is committed to improving the lives of patients with rare solid tumors and facilitating their participation in research. Our diverse team brings a wide range of different skills – including clinical experience, laboratory experience, data collection, and analysis skills – to MyPART and the Pediatric Oncology Branch. Learn more about the MyPART team here.

• The new NIH Clinical Center Treasure Tour App is now live on the NIH Clinical Center The Treasure Tour app is an interactive virtual game that allows children to create their own character and learn about the different spaces they may visit at the NIH Clinical Center. Children can play online or download the game to a mobile device.
• Desmoid tumor natural history study data from the Desmoid Tumor Research Foundation, a MyPART advocacy partner, is now available in the Rare Disease Cures Accelerator – Data Analytics Platform (RDCA-DAP). The RDCA-DAP is an initiative developed by the Critical Path Institute (C-Path) and the National Organization for Rare Disorders (NORD) to allow researchers to access and analyze rare disease data.