Iftikhar J. Kullo, M.D.

The purpose of this study is create a biorepository of patients/families where there is a clustering of a cardiovascular disease (CVD) phenotype with suspected genetic etiology, in order to conduct gene discovery.

The CASCADE Familial Hypercholesterolemia Registry will track therapy, clinical outcomes, and patient-reported outcomes over time aiming to increase familial hypercholesterolemia awareness, promote optimal disease management, and improve outcomes. This study is not recruiting family members of FH patients at this time.

The purpose of this study is to develop a registry of molecularly confirmed Familial Hypercholesterolemia (FH) cases in conjunction with the retrospective FHIRE study (IRB# 18-009654) in order to identify and offer genetic testing to Mayo Clinic patients with suspected FH.

The electronic Medical Records and GEnomics (eMERGE) Network Genomic Risk Assessment Study is a multisite study funded by the National Human Genome Research Institute (NHGRI) to investigate the clinical utility of polygenic risk scores for common conditions in adults and children. eMERGE researchers aim to learn about how people’s family history and genetic makeup affect their risk of developing common conditions such as heart disease, diabetes, and cancer, and about how to use this information to help them reduce their risk. The study will recruit 25,000 participants from around the country, including groups who are underrepresented in biomedical research.

Each participant will provide a biospecimen for genetic testing and fill out surveys about personal and family health history. Participants will receive a Genome Informed Risk Assessment (GIRA) report that includes their estimated risk for common conditions based on genetic testing results, clinical variables, and family history. The GIRA report will be uploaded to the participant's electronic health record and is meant to help participants and providers interpret risk for common conditions. A subset of participants will receive their results from a member of the study team in-person or by a virtual appointment.

The purpose of this study is to assist patients and clinicians in discussing the potential benefits and side effects of treatment of familial hypercholesterolemia (FH) and to develop a decision aid for use in a clinical setting.

The purpose of the study is to test whether cardio-ankle vascular index, a measure of arterial stiffness that can be obtained in the office setting, is associated with cardiac function and structure as assessed by echocardiography.

The purpose of this study is to identify individuals who may have a condition called Familial Hypercholesterolemia (FH) by using different datasets and methodologies.

This study is being done to better understand how genetic information might improve assessment of heart attack risk.

The purpose of this study is to conduct a genomic medicine implementation project to establish mechanisms for return of actionable findings from targeted sequencing of ~109 disease-relevant genes and genotyping of select polymorphisms in a large study setting (eMERGE III consortium). A primary focus of the Mayo group will be on two common actionable genetic disorders–familial hyperlipidemia (FH) and familial colorectal cancer (CRC).

The eventual goal of this study is to identify genetic and proteomic markers that may influence susceptibility to vascular diseases including peripheral arterial disease, pulmonary hypertension, carotid artery stenosis, arterial aneurysmal disease, fibromuscular dysplasia, congenital heart disease and other less common diseases that affect the blood vessels.