Hal C. Dietz III, MD

Professional Titles

• Investigator, Howard Hughes Medical Institute
• Victor A. McKusick Professor of Medicine and Genetics

Primary Academic Title

Professor of Genetic Medicine

Background

Centers and Institutes

• Cardiovascular Connective Tissue Disorder Clinic
• Broccoli Center for Aortic Diseases
• Heart and Vascular Institute
• Helen B. Taussig Children's Congenital Heart Center
• Inherited Heart Disease, Center for
• Johns Hopkins Children's Center
• McKusick-Nathans Institute of Genetic Medicine

Videos

• Research of Connective Tissue Disorders

• The Future of Ehlers-Danlos Syndrome

• Research and Treatment of Loeys-Dietz Syndrome

• Therapy for Aortic Aneurysms

Additional Academic Titles

Assistant Professor of Neurological Surgery, Joint Appointment in Molecular Biology and Genetics, Associate Professor of Medicine, Professor of Pediatrics

Research Interests

Cardiovascular genetics, Connective tissue disorders, Genetics of aging, Molecular basis of inherited disorders of vascular development and homeostasis, Nonsense-mediated mRNA decay, Pathogenesis of Marfan syndrome

Lab Website

Dietz Lab - Lab Website

Research Summary

Dr. Dietz and his laboratory team are interested in the development and homeostasis of the arterial wall, and other diseases of the connective tissue.

One goal is to understand genetic factors that predispose to aortic aneurysm, a condition accounting for 1-2 percent of deaths in industrialized countries. Their initial approach has been to study Marfan syndrome (MFS), a genetic disease that includes aortic aneurysm as part of the condition and that is caused by mutations in a single gene. It is anticipated that a comprehensive understanding of the cause, progression, and modulation of MFS will promote a greater understanding of vascular wall biology.

Other vascular disorders currently being studied include vascular Ehlers-Danlos Syndrome, and an aggressive aneurysm phenotype called Loeys-Dietz syndrome. We have shown that the multisystem pathogenesis of each of these disorders relates to crosstalk between the transforming growth factor b (TGFb), angiotensin II (AngII) and mitogen-activated protein kinase pathways. These pathways can be targeted carefully in mouse models to provide a strong scientific basis for therapeutic intervention in humans with these diseases.

A second major interest of the laboratory is to understand the mechanism of nonsense-mediated mRNA decay; to evaluate its basic biologic purpose; and to assess its role as a potent modulator of disease severity in a wide variety of genetic disorders.

Google Scholar

https://scholar.google.com/scholar?q=Harry+Dietz&btnG=&hl=en&as_sdt=0%2C21

PubMed

https://www.ncbi.nlm.nih.gov/sites/myncbi/1ZwPDlmcf55Qh/bibliography/53660185/public/?sort=date&direction=ascending

Selected Publications

• Conditional Provocations in a Knock-In-Mouse Model of Marfan Syndrome” (Basic Science Session), New Therapeutic Opportunities in MFS and LDS as Revealed by Modifier Studies in Patients and Mouse Models.” (Mechanisms and Options for Therapeutic Interventions Session), 9th International Research Symposium on Marfan Syndrome and Related Disorders, The Marfan Foundation, Paris (France), September 2014.

• Found in Translation: New Insights into the Pathogenesis and Treatment of Marfan Syndrome and Related Disorders. American Heart Association, BCVS Meeting (Basic Cardiovascular Sciences), Las Vegas, NV, July, 2014

• Found in Translation: New Insights into the Pathogenesis and Treatment of Marfan Syndrome and Related Disorders. Centro de Biología Molecular “Severo Ochoa” Consejo Superior de Investigaciones Científicas Madrid, Spain, October 2014.

• Found in Translation: New Insights into the Pathogenesis and Treatment of Marfan Syndrome and Related Disorders. Charles R. Ross Memorial, Student Research Celebration, Upstate Medical University, Syracuse, NY, April 2014.

• Found in Translation: New Insights into the Pathogenesis and Treatment of Marfan Syndrome and Related Disorders. Laennec Clinician/Educator Lecture, American Heart Association Scientific Sessions, Chicago, IL, November 2014.

• Found in Translation: New Insights into the Pathogenesis and Treatment of Marfan Syndrome and Related Disorders. Stevenson Lecture, University of Western Ontario, London, Ontario, November 2014.

• Marfan & Loeys-Dietz. 5th Annual New England Symposium on Marfan Sydrome & Related Disorders. Ambrey Genetics, Marfan Foundation, MA Chapter and the NH/VT Network of the Marfan Foundation, Manchester, NH, September 2014.

• New Insights Regarding the Pathogenesis and Modification of Marfan Syndrome and Related Disorders. 78th Annual Scientific Meeting of the Japanese Circulation Society, Tokyo, Japan, March 2014.

• The Extracellular Matrix in Homeostatic, Autoimmune and Fibrotic Disease Process. Christian J. 2014 Lambertsen Honorary Lecture, University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA, April 2014.

• The Extracellular Matrix in Homeostatic, Autoimmune and Fibrotic Disease Processes. Robert Berliner Professorship, Yale University, New Haven, CT, April 2014.

• The Extracellular Matrix in Homeostatic, Autoimmune and Fibrotic Disease. Northwestern Lectures in Life Sciences, Northwestern University, Chicago, IL, January 2015.

Courses & Syllabi

• Molecules & Cells (Course Lecturer)
• Mutation in Human Disease
• Marfan Syndrome, Clinical Correlations

Honors

• Winner - InBev, Baillet Latour Health Prize, 1/1/14
• Winner - Harrington Prize, American Society for Clinical Investigation and the Harrington Institute, 1/1/14
• Clinical Cardiology Laennec Clinician/Educator Lecture Award, 1/1/14
• Inductee, Association of American Physician, 1/1/13
• Winner - Pasarow Award in Cardiovascular Research, 1/1/13
• Colonel Harland Sanders Lifetime Achievement Award in Medical Genetics, 1/1/12
• March of Dimes and American College of Medical Genetics, 1/1/12
• Winner - Taubman Prize for Excellence in Translation Medical Science, 1/1/12
• Pruzansky Lecture (Annual Clinical Genetics Meeting) - ACMG, 1/1/11
• Inductee, The National Academy of Sciences, 1/1/11
• Niccolo Paganini Prize, SIMA Congreso Internacional de S√≠ndrome de Marfan, 1/1/10
• Art of Listening Award, Genetic Alliance, 1/1/10
• Heritage Award, Johns Hopkins University, 1/1/09
• George E. Brown Memorial Lecturer Award, American Heart Association, 1/1/09
• Hero with a Heart Honoree, National Marfan Foundation, 1/1/08
• Humanitarian Award, American Skin Association, 1/1/08
• Inductee, National Academy of Sciences Institute of Medicine, 1/1/08
• Chair, Board of Scientific Counselors, National Human Genome Research Institute, 1/1/07
• Elected to the Board, American Society of Human Genetics, 1/1/07
• Scientific Advisory Board, Center for Preterm Birth Research at Washington University in St. Louis, 1/1/07
• Professorship, Princess Lilian Foundation, 1/1/07
• Edmund R. McCluskey Memorial Lectureship, University of Pittsburgh, 1/1/07
• Paulette Shirley Pritchett Endowed Lecture in Pathology, University of Alabama at Birmingham, 1/1/07
• Isadore Rosenfeld Visiting Professorship, Weil Medical College of Cornell University, 1/1/07
• Robert M. Jeresaty Lecture, St. Francis Medical Center, 1/1/07
• Congressional Biomedical Research Caucus Symposium, Joint Steering Committee on Public Policy, 1/1/07
• Whitehead Symposium XXV, Massachusetts Institute of Technology, 1/1/07
• Kathryn L. Ober Visiting Professor, Indiana University, 1/1/07
• Editorial Board, Clinical and Translational Science, 1/1/07
• Recipient of the Curt Stern Award, American Society of Human Genetics, 1/1/06
• Nahum J. Winer Memorial Lecture, New York Academy of Medicine, 1/1/06
• Thomas P. Graham Jr. Lecture, Vanderbilt University, 1/1/06
• Cazden Lecture, Oregon health Sciences University, 1/1/06
• Meinhard Robinow Lecture, Dayton Children's Hospital, 1/1/06
• Elected to the Board, American Society for Clinical Investigation, 1/1/05
• Inductee, American Association for the Advancement of Science, 1/1/05
• Wilson Lecture, Case Western Reserve University, 1/1/05
• Editorial Board, American Journal of Medical Genetics, 1/1/05
• First Victor A. McKusick Professor of Medicine and Genetic, 1/1/04
• Board of Scientific Counselors, National Human Genome Research Institute, 1/1/04
• Inductee, American Society for Clinical Investigation, 1/1/03
• Inductee, Society for Pediatric Research, 1/1/02
• Chair, Scientific Committee, Agarini Foundation, 1/1/02
• Editorial Board, American Journal of Human Genetics, 1/1/02
• Pauline Wilson Horner Lecture, Case Western Reserve University, 1/1/01
• Editorial Board, Pediatric Research, 1/1/01
• Director, William S. Smilow Center for Marfan Syndrome Research, 1/1/00
• Editorial Board, Circulation Research, 1/1/99
• Chair, Professional Advisory Board, National Marfan Foundation, 1/1/98
• Appointed to the Howard Hughes Medical Institute, 1/1/97
• Elster Memorial Lecture, Mount Sinai University School of Medicine, 1/1/97
• Visiting Professorship and Memorial Lecture, Hospital for Sick Children, 1/1/97
• Winner Memorial Lecture, Univ of Maryland School of Medicine, 1/1/97
• Department of Energy BER 50th Anniversary Celebration, National Academy of Sciences, 1/1/97
• Editorial Board, Human Molecular Genetics, 1/1/97
• Visiting Professorship, Cleveland Clinic, 1/1/96
• Visiting Professorship, Northwestern University School of Medicine, 1/1/95
• Antoine Marfan Award, National Marfan Foundation, 1/1/94
• Young Investigator Award, Society for Pediatric Research, 1/1/93
• Patrick John Niland Memorial Lecture, University of Michigan, 1/1/93
• Professional Advisory Board, National Marfan Foundation, 1/1/93
• Editorial Board, Genomics, 1/1/93
• First Richard Starr Ross Research Scholar, Johns Hopkins Medical Institutions, 1/1/92
• Richard D. Rowe Award, Society for Pediatric Research, 1/1/92
• Harriet Lane Research Fellowship, Department of Pediatrics, 1/1/90
• Pediatric Chief Resident, 1/1/88
• Summa Cum Laude, SUNY Upstate School of Medicine, 1/1/84
• Alpha Omega Alpha, SUNY Upstate School of Medicine, 1/1/83

Graduate Program Affiliations

• Preceptor, Predoctoral Research Training Programs

  • Human Genetics
  • Biochemistry, Cellular & Molecular Biology
  • Cellular and Molecular Medicine

  Fellowship Training

  • Division of Pediatric Cardiology
  • Division of Pulmonary and Critical Care Medicine
  • Department of Surgery

Memberships

• American Society for Clinical Investigation
• American Association for the Advancement of Science, Fellow
• American Heart Association, Fellow
• The American Society of Human Genetics
• Association of American Physicians
• National Academy of Sciences
• Charter Fellow, Council on Basic Cardiovascular Sciences

Professional Activities

• Advisory Board, Gene Vector Core, Member
• Agarini Foundation, Scientific Committee
• American Journal of Cardiology, Ad hoc reviewer
• American Journal of Human Genetics, Editorial Board
• American Journal of Human Genetics, Ad hoc reviewer
• American Journal of Medical Genetics, Editorial Board
• American Journal of Medical Genetics, Ad hoc reviewer
• American Society of Human Genetics, Nominating Committee
• American Society of Human Genetics Representative, The Genome Action Coalition
• Archives of Pediatric and Adolescent Medicine, Ad hoc reviewer
• Board of Scientific Counselors, National Human Genome Research Institute, Chair
• Cell, Ad hoc reviewer
• Circulation, Ad hoc reviewer
• Circulation Research, Editorial Board
• Clinical and Translational Science, Editorial Board
• Clinical Genetics, Ad hoc reviewer
• Department of Molecular Biology and Genetics, Chairman Recruitment Committee
• Developmental Dynamics, Ad hoc reviewer
• Ehlers-Danlos Syndrome National Foundation Institute of Medicine (IOM) Committee on Accelerating Research and Development for Rare Diseases and Orphan Products, Member, Professional Advisory Board
• eLife, Editorial Board
• European Journal of Human Genetics, Ad hoc reviewer
• Genomics, Editorial Boards
• Global Fibrosis Foundation, Medical Advisory Council
• Human Genetics Predoctoral Training Program, Associate Director
• Human Genetics Selection Committee, Member
• Human Molecular Genetics, Editorial Board
• Human Molecular Genetics, Ad hoc reviewer
• Human Mutation, Ad hoc reviewer
• Jackson Laboratories, Induced Mutant Repository Advisory Board
• Journal of Clinical Investigation, Ad hoc reviewer
• McKusick-Nathans Institute of Genetic Medicine, Recruitment Committee
• McKusick-Nathans Institute of Genetic Medicine, Directorship Search Committee, 1/1/99 - 1/1/00
• Medical Scientist Training Program Steering Committee (M.D./Ph.D.), Member
• Michael A. Sarnoff Research Award Committee, Member
• National Human Genome Research Institute, Board of Governors
• National Institutes of Health, Member, Mammalian Genetics Study Section, 1/1/02 - 1/1/05
• National Institutes of Health Division of Heart and Vascular Diseases, Evaluation Committee for Specialized Centers of Research (SCOR) Program in Cardiovascular Disease
• National Marfan Foundation, Professional Advisory Board, 1/1/97
• National of Arthritis and Musculoskeletal and Skin Diseases Advisory Council of the National Institutes of Health (NIAMS), Chair
• National Organization for Rare Disorders (NORD) Scientific Advisory Committee, Member
• Nature Genetics, Ad hoc reviewer
• Nature Medicine, Ad hoc reviewer
• New England Journal of Medicine, Ad hoc reviewer
• Nucleic Acids Research, Ad hoc reviewer
• Pediatric Research, Editorial Board
• Proceedings of the National Academy of Sciences (USA), Ad hoc reviewer
• Professional Advisory Board National Marfan Foundation, Director
• Research Prize Committee, David Israel Macht Memorial, Member
• Review Committee, Young Investigator's Day Award, Member
• RNA, Ad hoc reviewer
• Science, Ad hoc reviewer
• Science Translation Medicine, Editorial Board
• Science Translation Medicine, Editor
• Search and Screen Committee, Medical Physiology and Metabolism Section, National Academy of Sciences, Member
• The American Society of Human Genetics, President