For all individuals:
The All of Us Research Program
- The All of Us Research Program is a historic effort from the National Institutes of Health (NIH) to gather data from one million or more people living in the United States to accelerate research and improve health. By taking into account individual differences in lifestyle, environment, and biology, researchers will uncover paths toward delivering precision medicine.
- Visit https://allofus.nih.gov/ or see a list of participating Health Care Provider Organizations.
If you had a pathogenic/likely pathogenic mutation or a variant of uncertain significance (VUS) detected, you may be eligible for and consider participating in the following research studies:
For individuals with a mutation and/or VUS in any gene:
- An NIH-funded online patient portal supported by the Clinical Genome Resource (ClinGen) project. If you are willing to share your genetic and health data (de-identified for privacy) to advance knowledge about their genetic variants and to connect with others with the same variant/condition:
- Visit: www.genomeconnect.org or email the coordinator at firstname.lastname@example.org.
- An online registry for people who have undergone testing for cancer-causing genetic mutations. This study is being co-led by physicians and scientists at the Abramson Cancer Center of the University of Pennsylvania, the Mayo Clinic, and Memorial Sloan Kettering Cancer Center, and Patient Crossroads.
- Visit: http://www.promptstudy.org or see the letter attached to your genetic counseling note.
For individuals with a mutation and/or VUS detected in a gene associated with breast and/or ovarian cancer:
Mayo Clinic’s Inherited Breast and Ovarian Cancer Study
- A group of doctors and scientists at the Mayo Clinic in Rochester, Minnesota, are working together to advance our understanding of breast cancer. Their goals are to define the risks of cancer for pathogenic mutations and variants of unknown significance (VUS) in people who have been tested for breast and ovarian cancer genes.
- For more information, you may contact the study investigators, Fergus Couch, Ph.D., Investigator (507) 266-0878, email@example.com or Jodie Cogswell, Study Coordinator (507) 538-6864, firstname.lastname@example.org.
For individuals with a mutation detected in a gene associated with pancreatic cancer and/or a personal history or strong family history of pancreatic cancer:
The Cancer of the Pancreas Screening-5 (CAPS5)
- A prospective study investigating an experimental drug and its effects on progression or development of pancreatic cancer.
- Visit: https://clinicaltrials.gov/ct2/show/NCT02000089
National Familial Pancreas Tumor Registry (NFPTR)
- A research study aimed at identifying the causes of pancreatic cancer. Participation involves the completion of a questionnaire about your health history and that of your family members.
- Visit: http://pathology.jhu.edu/PANCREAS/nfptr/who.php to see if you or your family qualifies to join the pancreas tumor registry.
Pancreatic Cancer Early Detection Program (PCEDP), White Plains, NY
- An interventional study screening for pancreatic cancer in high-risk individuals who have a family history or personal history of pancreatic cancer and/or have a genetic mutation associated with increased risk for pancreatic cancer.
- Visit: https://clinicaltrials.gov/ct2/show/NCT02206360?term=Pancreatic+cancer+screening&recr=Recruiting&cntry1=NA%3AUS&rank=2
Early Detection Clinic for Pancreatic Cancer, Scottsdale, AZ
- A risk assessment and screening study for individuals with a personal or family history of pancreatic cancer and/or a gene mutation associated with increased risk for pancreatic cancer.
- Visit: https://www.honorhealth.com/medical-services/cancer-care/early-detection/research
For individuals with a BRCA2 or PALB2 mutation and a personal history of pancreatic cancer:
A registry for BRCA and PALB2 mutation carriers with pancreatic cancer
- A prospective registry study conducted at Memorial Sloan Kettering Cancer center.
- Visit: https://clinicaltrials.gov/ct2/show/NCT01983410?term=Pancreatic+cancer+genetic+mutation+carrier&recr=Recruiting&cntry1=NA%3AUS&rank=3
For individuals with PALB2 mutations:
Inherited CAncer REgistry (ICARE) Initiative
- A study to evaluate outcomes of individuals with pathogenic or likely pathogenic PALB2mutations. For more information about enrolling in this study, click the link below or you may contact the study team directly by phone (615-875-2444) or email (ICARE@inheritedcancer.net).
- Visit: https://inheritedcancer.net/online-enrollment#.WnoDlZM-eL4
For individuals with BAP1 mutations:
Clinical and Histopathologic Characteristics of BAP1 Mutations
- An observational study of BAP1 function in uveal melanoma, and mesothelioma cancer types.
- Visit: https://clinicaltrials.gov/ct2/show/NCT01773655?term=malignant+mesothelioma+BAP1&recr=Recruiting&cntry1=NA%3AUS&rank=1
For individuals with a mutation associated with Familial Hypercholesterolemia (FH):
THE CASCADE FHTM REGISTRY
- A resource offered by the FH Foundation that helps collect information on individuals with FH and their family members. The information is stored in a highly secure portal located on the FH Foundation website. Entering your information in this registry may help researchers to to promote understanding of FH in the medical community and public domain, examine gaps in care for those living with FH, and improve adherence to guideline-recommended treatments for FH.
- Visit: https://thefhfoundation.org/fh-research/registry
If you have a personal and/or family history of kidney (renal) cancer, you may be eligible for and consider participating in the following research study:
Kidney Cancer DNA Registry
- A prospective registry study conducted at Memorial Sloan Kettering Cancer Center.
- Visit: https://clinicaltrials.gov/ct2/show/NCT02087852?term=kidney+cancer&recr=Recruiting&cntry1=NA%3AUS&rank=42
For individuals with a mutation associated with Cardiomyopathy:
- A multi-center, international repository of clinical and laboratory data on individuals and families with genetic heart disease developed as a collaboration with several world-leading cardiovascular centers. By building the world’s most robust database of its kind, cardiovascular geneticists and research-based cardiologists will be able to expand their knowledge base and generate fresh insights and research initiatives supporting the development of more targeted and effective approaches in the treatment of genetic heart disease
- Visit: https://theshareregistry.org/
ARVD/C Patient Registry (The Johns Hopkins Hospital)
- The goal of the registry is to clinically characterize AC patients and learn more about the natural history of the disorder, range of severity and the genes that cause AC.
- Visit: https://www.hopkinsmedicine.org/
The Dilated Cardiomyopathy (DCM) Research Project
- Their goal has been to identify the genetic causes of DCM in order to understand DCM cause, how DCM progresses, and to devise new prevention and treatment strategies for cardiomyopathy and heart failure.
- Visit: https://dcmproject.com/
For individuals with a mutation associated with Arteriopathies:
- Provides information and support to healthcare providers, caregivers, and families affected by Marfan syndrome and related disorders, including FTAAD and Ehlers-Danlos syndrome.
- Visit: http://www.marfan.org
Genetic Aortic Disorders Association of Canada
- Supports individuals living with genetic arteriopathies through awareness, education and research opportunities
- Visit: http://www.gadacanada.ca/
The John Ritter Foundation for Aortic Health
- Dedicated to the identification of individuals at risk for arterial dissections and the treatment of thoracic aortic disease through medical research.
- Visit: http://johnritterfoundation.org/
Vascular Ehlers-Danlos Syndrome Collaborative
- A patient-clinician collaboration that aims to advance the understanding of vascular EDS and improve care for individuals diagnosed with mutations in COL3A1.
- Visit: https://www.vedscollaborative.org/get-involved
For individuals with a mutation associated with Arrhythmias:
The International Long QT Registry
- The International Long QT Syndrome Registry (ILQTSR) is a research organization that maintains an international database on long QT syndrome. The aim of the registry is to improve understanding of the genetics and natural history of this rare heart disorder. It also seeks to improve treatments for affected individuals.
- To participate, email email@example.com
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