Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Suggest an organization to add.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Advancing Symptom Clusters Research on Rare Cancers Wednesday, June 17, 2015
Location: NIH Neuroscience Building,
Bethesda,
MD
Description:
It is intended that the in-depth, interdisciplinary dialogue of this expert working group will formulate an emerging consensus on a working definition of symptom clusters and, specific gaps and opportunities that provide a foundation for a transformative strategic blueprint to guide future symptom cluster research in rare cancers. In addition, it is anticipated that workshop proceedings will inform a funding opportunity announcement.
Contact: Sue Marden, Ph.D.,(301) 496-9623,mardens@mail.nih.gov
Co-funding Institute(s): National Institute of Nursing Research, Office of Rare Diseases Research
Rare Tumors Initiative Symposium Strategies to Develop Therapies for Rare Tumors: Small Numbers, but Big Opportunities
Wednesday, June 17, 2015
Location: NIH Natcher Conference Center,
Bethesda,
MD
Description: The goals of this symposium are to increase communication and build networks between researchers working in rare tumors across NIH, and to get input from patient groups, industry, and the FDA on how to overcome the biggest hurdles in the development of therapies for rare tumors. The Rare Tumors Initiative at NCI, CCR will use this information to prioritize goals for the future and will prepare a white paper summary to help guide researchers worldwide.
Contact: Dr. Karlyne Reilly,(301) 846-7518, reillyk@mail.nih.gov
Co-funding Institute(s): National Cancer Institute, Office of Rare Diseases Research
5th International Conference on Epithelial Mesenchymal Transition
Monday, October 10, 2011 -
Thursday, October 13, 2011
Location:
Singapore
Description: The objectives of the meeting are to 1) Bring together investigators in the separate disciplines of cancer, pathology and development to discuss their observations on EMT and explore whether there is a consensus on important components of the process. 2) Provide a forum where students and junior investigators can interact with senior investigators and display their own work and ideas in the field. 3) Expand a viable co-operative cross disciplinary forum of EMT-related researchers internationally, particularly with outreach to Asia. This will continue to provide a worldwide network for exchange of expertise, reagents and techniques across disciplines. 4) Publish a timely meeting update on cellular, molecular and genetic aspects of EMT in an appropriate cross-disciplinary international journal.
Contact: Michelle Williams(301) 435-1878williamsmc3@mail.nih.gov
Co-funding Institute(s): National Cancer Institute, Office of Rare Diseases Research
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Overcoming Barriers to International Clinical Trials for Rare Cancers
Friday, December 10, 2010
Location:
Bethesda,
Maryland
Description: The goals of this conference were to introduce key institutional players to the topic of international clinical trials in rare cancers and to establish an ongoing dialogue. Participants left the meeting with a set of specific priorities that need to be enacted to promote these trials. The meeting promoted consensus on the way that resources are prioritized to address rare cancers. Participants were asked to convey the content of the meeting to their constituencies and to follow up with pilot concepts.
Contact: Jack Welch, M.D., Ph.D., jack.welch@nih.govjack.welch@nih.gov
Co-funding Institute(s): National Cancer Institute, Office of Rare Diseases Research
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