Research Studies

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:

  • GenomeConnect
    • - 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 info@genomeconnect.org.

 

  • PROMPT
    • - 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, couch.fergus@mayo.edu or Jodie Cogswell, Study Coordinator (507) 538-6864, cogswell.jodie@mayo.edu.

 

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:

 

  • 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.

 

 

 

For individuals with a BRCA2 or PALB2 mutation and a personal history of pancreatic cancer:

 

For individuals with PALB2 mutations:

 

For individuals with BAP1 mutations:

 

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:

 

For individuals with a mutation associated with Cardiomyopathy:

  • SHARE Registry
    • 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:

 

  • Marfan Foundation
    • 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/

 

 

 

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 heartajm@heart.rochester.edu





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