Human Genetics and Genomics Training Program – Hopkins Medicine

The Johns Hopkins Training program in Human Genetics and Genomics (HGG program) provides students with a robust foundation in all aspects of human genetics and genomics. In particular, the consequences of variation in our genomes on cellular biology, biochemistry, metabolism, development, physiology and, ultimately, human phenotypes. Building on this foundation, our trainees explore the array of mechanisms by which genetic variation interacts with environmental variables to contribute to disease mechanisms and risk, explored through the lens of normal and disease states in human biology and organ systems. The program provides an alternative to the combined M.D./Ph.D. program for those who want to carry out genetic studies in man but do not want the M.D. degree.

Our students become increasingly skilled and independent in adding to their knowledge and in identifying key questions and incisive approaches that can advance their fields. The ability to design incisive experiments that appropriately employ quantitative methods to analyze and interpret the data with rigor and integrity is central to their training.

The HGG program also strives to provide students with a diverse and inclusive environment and supports acquisition of fundamental skills for their chosen career path, including written and oral communication skills. Throughout their training, students are provided with opportunities to acquire the professional skills and experiences needed to guide selection of, and facilitate transition into, any number of relevant careers, including research in academia and industry, teaching, science-writing, policy, law, and consulting.

Johns Hopkins University was ranked as the #6 top graduate training school for genetics/genomics/bioinformatics by the U.S. News and World Report in 2022.

The HGG program is distinct from other programs in the JHU School of Medicine in its emphasis on human genetic variation; in particular, the origins, population distribution, and consequences for gene regulatory networks and, hence, phenotypic effects of human genetic variation. In essence, how genetic variation interacts with environmental variables to contribute to human health and disease. HGG remains one of the most prominent PhD training programs in genetics nationwide, producing incisive and creative thought leaders, skilled in the use of emerging genetic tools to dissect problems in human biology/clinical medicine.

A curriculum equipped for the challenges in 21st century genetics as applied to human biology and medicine: The rapidly expanding appreciation of genetic variation in medicine and health has arisen in tandem with dramatic technological advances. Holding this in tension with foundational concepts in genetics has necessitated a significant evolution of our training paradigm. HGG provides a unique training experience. Our revised curriculum integrates training in genetics, molecular and cellular biology with training in human pathobiology, disease mechanisms, computational and genomic tools, to equip HGG trainees for the emerging role of genetics in health.

Built for data: Contemporary genetic research increasingly necessitates computational competence and utilization of large data sets. The diverse and highly integrated HGG preceptor community includes a uniquely trained cohort of computational geneticists with deep training in phenotype definition, clinical disease, machine learning and genetic variation preparing our students for current and future data-driven discoveries. Of recently matriculated students, 31% are engaged in computationally intensive research.

Unique exposure to the interface between patient care and research: We take advantage of our position in a prominent school of medicine to provide HGG students with several unique opportunities. Among these, many students attend the weekly DGM Clinical Case Conference, allowing students to place genetic research in a clinically relevant context. Our students have the opportunity to work alongside the clinical and genetic counseling teams in preparing reports for the Online Mendelian Inheritance in Man (OMIM). This provides writing, clinical and professional development opportunities for our trainees that are not available elsewhere. We offer an elective, Understanding genetic disease, where students each observe a patient/family in a clinic under medical geneticist/counselor supervision. In class, they summarize the clinical issues and further discuss the epidemiology, pathogenesis, molecular genetic bases, treatment options, potential clinical trials, and research needs of the condition.

A training environment that promotes student initiatives and inclusivity: The HGG program promotes and has adopted student-initiatives to enhance diversity and inclusivity. These include a HGG-initiated, JHUSOM-wide committee and seminar series to address issues impacting the role and visibility of individuals with physical and mental disabilities in science and medicine (Equal Access in Science and Medicine); a seminar and discussion forum within HGG that addresses issues of race and gender-based inequities in genetics (Equity in Genetics); and a forward-looking effort to foster relationships with historically black colleges and universities (HBCU) to enhance research experience and expand opportunity for careers in science amongst undergraduates populations that are underrepresented in science (BUILD2ASCEND). We are currently planning with Dr Hohmann (PI of the BUILD grant at Morgan State University; MSU), to establish a long-term commitment to the program at MSU (and other HBCU). We aim to begin by developing a mini-symposium by HGG students presenting their thesis research to engage interested MSU students. This will provide HGG students with teaching and mentorship experience and provide MSU students with research and career development experience that have immediate and long-term consequences.

The Johns HopkinsTraining Program in Human Genetics and Genomics (HGG) has grown steadily since its inception in 1980 in parallel with the spectacular growth of genetics and genomics and their application to medicine over the last three decades. Similarly, the Johns Hopkins School of Medicine (SOM) continues to make commitments to human genetics as evidenced by the establishment of the McKusick-Nathans Institute of Genetic Medicine (IGM) in 1999, and the McKusick-Nathans Institute of Genetic Medicine | Department of Genetic Medicine (DGM) in 2019; as well as the provision of state of the art research space in 2004, and the 2009 introduction of a new medical school curriculum known as The Genes to Society curriculum, which has genetics and genetic-thinking as an underlying principle. In 2013, the DGM continued to grow with the field by partnering with the Johns Hopkins Bloomberg School of Public Health (JHSPH) and the National Human Genome Research Institute (NHGRI) to create the Maryland Genetics, Epidemiology, and Medicine Training Program (MD-GEM), funded by the Burroughs Wellcome Fund/MD-GEM takes a multidisciplinary approach by combining the expertise of all three institutions, to foster the development of a new generation of scientists.

Director: Andrew McCallion, Ph.D.Email: andy@jhmi.edu

Co-Director:Kimberly Doheny, Ph.D.Email: kdoheny@jhmi.edu

Administrator:Sandy MuscelliEmail: muscelli@jhmi.edu

The directors work closely with the Program Administrator, Ms. Sandy Muscelli, to deal with the day-to-day responsibilities of the program. Dr. McCallion served as Assistant Director for several years and provides valuable guidance to students throughout their training. Dr. Doheny is a 1993 graduate of the Human Genetics Program, providing guidance in the areas of large-scale genomics, technology development, clinical diagnostics and career development. Ms. Muscelli continues to serve as the Administrator for HGG, a position she has held since 1989. She organizes all aspects of the recruitment and admission processes, manages the budget, and handles the daily administrative duties. She should be the first person you contact if you have problems.

Additional input is provided by members of the Executive Committee: David Valle (chair), Professor of Genetic Medicine and former training program director from 1988-2021, Dan Arking, Professor of Genetic Medicine, Mary Armanios, Professor of Oncology, Hilary Vernon, Associate Professor of Genetic Medicine and Ambrose Wonkam, Professor and Director, Department of Genetic Medicine. All members of the Executive Committee are extensively involved in the selection and recruitment of our students and in counseling students with questions and/or problems.

Student Representatives are elected from each class to speak on behalf of students throughout their graduate careers. Responsibilities include organizing events throughout the academic year including the Barton Childs Lecture and events, student activities related to recruiting, the practice talks for students prior to their comprehensive exams, and orientation for the incoming first years. Additionally, the senior student representative attends faculty meeting and convey pertinent information from these meetings to all HGG students. When necessary, they act as a conduit between the students and program administration.

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Human Genetics and Genomics Training Program - Hopkins Medicine