Search Magazine June 17, 2019

The McKusick Short Course at 60: Bringing genetics to medicine

The legendary JAX-Johns Hopkins “Bar Harbor course” presents the latest in biomedical research.

Genetics is changing medicine from a “one size fits all” approach to treatments and preventive measures targeted at each individual’s unique genetic makeup. Today genetics makes up an increasing part of a medical student’s curriculum, and an annual course in coastal Maine has had an outsized role in that evolution.

Now in its 60th year, the course that is known today as the  Human and Mammalian Genetics and Genomics: The 60th McKusick Short Course #BHShortCourseThis course includes daily lectures in the mornings and evenings as well as afternoon mini-symposia, workshops, tutorials, demonstrations and a poster session. There is special emphasis on student-faculty interaction. The faculty is diverse in terms of disciplines and the students in terms of stage of career and fields of concentration. This diversity makes for an enriching experience for all. Although the course schedule is quite full, there is time set aside to enjoy the natural beauty of Mt. Desert Island and Acadia National Park.McKusick Short Course in Human and Mammalian Genetics and Genomics brings top researchers from around the world to The Jackson Laboratory (JAX) headquarters campus in Bar Harbor for two weeks of lectures and workshops, providing an overview of heredity, disease, genetics in experimental animals and humans, and molecular genetics in the diagnosis and treatment of inherited disorders.

From the beginning, the course has been co-organized with Johns Hopkins University. On a warm July midday in 1959, Victor McKusick, M.D., the Maine native and Johns Hopkins professor who would earn fame as “the father of medical genetics,” was having lunch at Testa’s Restaurant in Bar Harbor with John Fuller, then head of JAX education and training. “I suggested to him that there should be a course in medical genetics up here, for medical school faculty people, in particular,” McKusick later recalled. “The Jackson Laboratory people had much to teach us in medicine because of the rather parallel things that they do in mice.”

That lunch launched the first Medical Genetics Short Course in 1960, which through the years would convene an international faculty of M.D. clinical researchers and Ph.D. bench scientists, a scientific “who’s who” that numbers many Nobel laureates. Through six decades and several name changes, the course introduced genetics to a generation of medical school deans, has trained some 6,000 doctors and scientists and has led to countless collaborations and insights in biomedicine.

“It was important to Victor that the course keep up with the rapidly changing field of genetics,” says co-organizer David Valle, M.D., director of the Institute of Genetic Medicine and professor of pediatrics at Johns Hopkins Medicine. “He used to end every course by saying, ‘This was the best yet,’ as opposed to ‘the best ever.’ And that's one of the exciting things about being involved in the course. For me, just hearing the course lectures every year is like an instant refresher on what's going on in genetics.”

Valle cites the value of the course to Hopkins graduate students and medical residents. “Besides learning about the state of the art in human genetics, they also get an intensive background in mouse genetics. And they spend time with other course participants from all over the world, people who will be their colleagues for the rest of their careers.”

greg cox

JAX Associate Professor and course co-organizer Greg Cox, Ph.D.Studies the genetics of degenerative muscle diseases using mouse models for SMA, ALS, muscular dystrophy and more.Greg Cox, Ph.D., heartily concurs. “When I was a postdoc here at JAX I attended the course every year and took advantage of the fact that we had all these great investigators coming to give us talks. It was a fabulous opportunity.”

For Cox, course highlights include the two clinics at the end of the second week. The mouse clinic showcases dozens of different mouse models of genetic disease, together with the scientists and research assistants that work with them every day. (As JAX mice are normally housed in high-health barrier facilities, few see the range of disease models JAX maintains on behalf of the biomedical community.) The human genetics clinic presents the opportunity to meet and review the medical history of patients dealing with genetic diseases.

“Participants see patients and the mouse models that are relevant to their treatment and future cures,” Cox says. “No other course that I've ever been a part of has made that direct connection.”

For the last 50 years, the McKusick Short Course human genetics clinic was conducted in collaboration with the Center for Human Genetics, founded in Bar Harbor by JAX scientist and longtime course organizer Thomas Roderick, Ph.D., along with two physicians and a cytogeneticist. Created to provide counseling, education, referral and research, the Center was ahead of its time, and its mission has now been taken over by a growing network of genetic counselors, institutions and online resources. The Center will be ending operations at the end of 2019, and JAX is hosting a celebration of the Center’s 50-year history on the last day of the course, on Friday, July 26 from 5:00-7:30 p.m. (For more information about this event, contact

Longtime course faculty member Clair Francomano, M.D., now director of adult genetics at Greater Baltimore Medical Center, says the human genetics clinic at JAX was her first exposure to a clinical setting, when she was a first-year medical student. “It was so amazing to me because I had the opportunity to see patients with rare genetic disorders, such as Marfan syndrome and achondroplasia. That exposure really started my involvement with genetic diseases and shaped the way I thought about taking care of patients.”

Planning for each year’s course is an almost year-long operation in itself. Valle and Cox have regular conference calls with their colleagues Aravinda Chakravarti, Ph.D., director of the Center for Human Genetics and Genomics at New York University’s Langone Health; Ada Hamosh, M.D., M.P.H., clinical director of the McKusick-Nathans Institute of Genomic Medicine at Johns Hopkins; and at JAX, scientific director of mammalian genetics Nadia Rosenthal, Ph.D., F.Med.Sci., and Charles Lee, Ph.D., scientific director of genomic medicine. Event Manager Erin McDevitt handles the extensive logistics of the course, including coordinating travel for dozens of visiting scientists on the faculty.

The 60th Short Course schedule includes a special anniversary symposium on Saturday, July 20, featuring lectures by Nobel Laureate and director of molecular biology and genetics at Johns Hopkins University Carol Greider, Ph.D., stem cell researcher Stuart Orkin, M.D., of Harvard Medical School, and many others. JAX President and CEO Edison Liu, M.D., kicks off the celebratory symposium Friday evening July 19 with the annual C.K. Chai Memorial Lecture. 

The 2019 course program lists lectures and workshops for topics that didn’t even exist in 1960: genomics, epigenetics, single-cell RNA sequencing, quantitative systems biology, proteomics, pharmacogenomics and more. In fact, following a meeting at the nearby National Institutes of Health headquarters, the term “genomics” was coined in 1989 by JAX scientist and longtime course organizer Roderick together with McKusick and other scientists enjoying a pitcher (or two) at the now-defunct McDonald’s Raw Bar in Bethesda, Md. 

Scenic Bar Harbor in July is the ideal setting for a scientist’s retreat, many of the course faculty have noted over the years. “I think the biggest benefit is stepping off the treadmill—teaching and doing research and going a million miles an hour throughout the year,” says Jennifer Phillips-Cremins, Ph.D., an assistant professor in the department of bioengineering at the University of Pennsylvania. “You get to hear seminal lectures from leaders in the field, not only of what's going on right now but also a historical perspective of the history of genetics.” She adds that “you come to share your particular area of expertise,” in her case three-dimensional genome folding, “and you begin to see where your research falls within the larger sort of scope of what others are doing.”

The first, and for many years only funding source for the course was the March of Dimes, the foundation created by Franklin Delano Roosevelt in 1937 to prevent birth defects. Today the Howard Hughes Medical Institute and the National Institute of Child Health and Development provide grants to support the course.

According to Charles Wray, Ph.D., JAX vice president for education, the course is continuing to evolve to train graduate and medical students for a future of genomic medicine. “This includes how to access and exploit the massive genetic datasets that are fast accumulating, and new ways to understand human diseases through the mouse and other model systems.”

Wray says he and the other JAX and Johns Hopkins organizers are also seeking ways to expand the accessibility of the course to a wider audience. This could include some online participation and outreach to universities and medical schools in Africa and Asia. “We aim for diversity, in participants and faculty as well as lecture and workshop topics,” he says. “In the scientific world, different perspectives really catalyze collaboration and discovery.”

Prominent researchers the world over cite attending the “Bar Harbor Short Course” as a foundational step in their scientific education, Wray comments. “As the complexity of genetics continues to grow, the course will provide new generations of scientists with a short but powerful immersion in the latest and most promising approaches to improving human health.”