Patient-Oriented Research in Genomic Discovery and Implementation

以患者为中心的基因组发现和实施研究

• 批准号: 10221769
• 负责人: Iftikhar J Kullo
• 金额: $ 11.81万
• 依托单位: MAYO CLINIC ROCHESTER
• 依托单位国家: 美国
• 财政年份: 2017
• 资助国家: 美国
• 起止时间: 2017-07-15 至 2023-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10221769
• 关键词: Address; Advisory Committees; Age; Area; Attitude; Award; Behavioral; Cardiovascular Diseases; Cardiovascular system; Caring; Clinic; Clinical; Clinical Research; Clinical Trials; Collaborations; Community Health; Computerized Medical Record; DNA; DNA Sequence Alteration; Disclosure; Drug Prescriptions; Effectiveness; Electronic Health Record; Electronic Medical Records and Genomics Network; Employee Health; Enrollment; Environment; Etiology; Faculty; Familial Hypercholesterolemia; Family; Family member; Feedback; Fellowship; First Degree Relative; Foundations; Frequencies; Funding; Future; Generations; Genes; Genetic; Genetic Diseases; Genome; Genomics; Goals; Grant; Health system; Heritability; Knowledge; LDL Cholesterol Lipoproteins; Learning; Lipids; Low-Density Lipoproteins; Medical; Medical Economics; Medicine; Mentors; Mentorship; Methods; Mid-Career Clinical Scientist Award (K24); Midcareer Investigator Award in Patient-Oriented Research; Mutation; Outcome; Participant; Pathogenesis; Pathogenicity; Patient Care; Patients; Phase; Prevalence; Prevalence Study; Principal Investigator; Public Health; Publications; Reporting; Research; Research Infrastructure; Research Personnel; Research Project Grants; Research Support; Resources; Sampling; Schedule; Scientist; Surveys; Techniques; Test Result; Testing; Time; Training; Training Programs; Translating; Variant; actionable mutation; base; career; career development; cohort; college; cost; cost effective; cost effectiveness; exome sequencing; experience; gene discovery; genetic counselor; genetic testing; health care service utilization; hypercholesterolemia; implementation efforts; implementation science; improved; innovation; lipid disorder; medical specialties; meetings; multidisciplinary; new therapeutic target; novel; patient oriented; patient oriented research; patient subsets; precision medicine; primary care services; proband; professor; programs; psychosocial; responsible research conduct; screening; sex; statistics; targeted sequencing; targeted treatment; translational research program

PROJECT SUMMARY The candidate, a consultant in the Department of Cardiovascular Diseases, a Professor of Medicine at Mayo Clinic College of Medicine, Chair of the Mayo Cardiovascular Genomics Task Force, and an established clinician-scientist, is applying for a Mid-Career Investigator Award in Patient-Oriented Research (POR) to expand his mentorship and research program in cardiovascular genomics. Dr. Kullo's prior mentoring experience, his publication and funding record together with his research support in EHR-based genomic discovery and implementation demonstrate his commitment and passion for POR and provide a robust foundation to accomplish the goals and objectives of the K24 Award. The specific aims of this application address the purpose of the K24 Award and are: 1) To provide Dr. Kullo with protected time to mentor junior investigators from existing training programs and the pool of residents, fellows, and faculty at Mayo with the goal to develop them into independent clinical researchers in cardiovascular genomics; 2) To increase his effectiveness as a mentor by continued training in the responsible conduct of research and developing expertise in advanced techniques in precision medicine, implementation science and learning health systems; and 3) To enable Dr. Kullo to expand a program that combines innovative POR in cardiovascular genomics and that provides an ideal environment to develop future leaders in this area. The Principal Investigator has a substantial track record of mentoring trainees and junior faculty in POR (>60 mentees whose awards include a K01, a KL2, AHA postdoctoral fellowship and numerous intramural grants). The K24 award would provide protected time for the Principal Investigator to expand and enhance these efforts. The mentoring plan capitalizes on his current mentoring activities and numerous collaborative research projects to develop a career development path for a new generation of investigators capable of integrating cutting-edge methods at the interface of precision medicine, implementation science and learning health systems. A diverse portfolio of currently funded research opportunities exists for mentees to gain experience in POR and develop their own independent research directions. The mentoring plan includes an individualized research project in POR, scheduled mentor meetings, close collaboration with a multidisciplinary team of investigators, formal educational in statistics & the responsible conduct of research, and scheduled formal feedback from a mentoring team. The clinical research infrastructure at Mayo is unparalleled and together with resources of the eMERGE network, will provide a rich training environment for mentees. The new research component of the application will include a genomic study of cascade screening in patients with familial hypercholesterolemia (FH) who do not have an identifiable mutation in the known FH gene.

项目总结

项目成果

Penetrance and outcomes at 1-year following return of actionable variants identified by genome sequencing.

• DOI: 10.1038/s41436-021-01142-9
• 发表时间: 2021-07
• 期刊: Genetics in medicine : official journal of the American College of Medical Genetics

An Implementation Science Framework to Develop a Clinical Decision Support Tool for Familial Hypercholesterolemia.

• DOI: 10.3390/jpm10030067
• 发表时间: 2020-07-23
• 期刊: Journal of personalized medicine
• 作者: Bangash H;Pencille L;Gundelach JH;Makkawy A;Sutton J;Makkawy L;Dikilitas O;Kopecky S;Freimuth R;Caraballo PJ;Kullo IJ
• 通讯作者: Kullo IJ

Coronary Heart Disease Risk Associated with Primary Isolated Hypertriglyceridemia; a Population-Based Study.

• DOI: 10.1161/jaha.120.019343
• 发表时间: 2021-06
• 期刊: Journal of the American Heart Association
• 影响因子: 5.4
• 作者: Saadatagah S;Pasha AK;Alhalabi L;Sandhyavenu H;Farwati M;Smith CY;Wood-Wentz CM;Bailey KR;Kullo IJ
• 通讯作者: Kullo IJ

A pragmatic clinical trial of cascade testing for familial hypercholesterolemia.

• DOI: 10.1016/j.gim.2022.08.026
• 发表时间: 2022-12
• 期刊: GENETICS IN MEDICINE
• 影响因子: 8.8
• 作者: Miller, Alexandra A.;Bangash, Hana;Smith, Carin Y.;Wood-Wentz, Christina M.;Bailey, Kent R.;Kullo, Iftikhar J.
• 通讯作者: Kullo, Iftikhar J.

Familial Hypercholesterolemia: A Reportable Disorder.

• DOI: 10.1161/circulationaha.120.050548
• 发表时间: 2020-11-24
• 期刊: Circulation
• 影响因子: 37.8
• 作者: Kullo IJ