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Short Course Scenery: From atop Cadillac Mountain...
Every July for 40 years, genetics scholars from all over the world have flocked to the tiny coastal village of Bar Harbor for a “must-take” course in their exploding field.

Testa's Restaurant

Margaret and Earl Green

Ballroom of the Oakes Center

On the Oakes Terrace
From top to bottom: Testa’s Restaurant, where the Short Course was conceived; Margaret and Earl Green, faculty members at “The Jax” and longtime instructors; Victor McKusick delivering a 1961 lecture in the ballroom of the Oakes Center; and scientists savoring a coffee break on the Oakes terrace during that 1961 course.

Jackson Labs' Tibby Russel, holding a mouse by the tail....

David Weatherfall

Picnic on the beach
From to bottom: Jackson Labs’ Tibby Russell, holding a mouse by the tail, leads an early “Mouse Clinic” on the Oakes Center piazza; David Weatherall, Oxford’s Regius Professor of Medicine, lectures in 1992; and the class of 1961 frolics at a picnic on the beach.

Dan Nathans

Victor McKusick nd Ken Paigen
Bimodality Mountain
From to bottom: Nobel winner and frequent Short-Course lecturer Dan Nathans of Hopkins addresses a 1984 class; Victor McKusick and Jackson Labs director Ken Paigen in the summer of ’95; and these twin peaks off Jordan Pond may be known as “The Bubbles” to tourists, but Short-Course alumni remember them as “Bimodality Mountain”.

And So to Maine

By Kate Ledger

Every July for 40 years, genetics scholars from all over the world have flocked to the tiny coastal village of Bar Harbor for a “must-take” course in their exploding field.

Tourists are pretty run of the mill in tiny Bar Harbor, Maine. Still, of the assorted clusters who swarm into the quaint, coastal village every summer, one band of scholarly looking type manages to stand out. Clad in shorts, carrying laptops, riding bicycles, these are some of the world’s top genetic researchers—including Nobel-Prize winners, eminent physicians and chairs of departments at premier medical schools. Year after year, they show up at the end of July, partly to relish Maine’s picturesque, rocky shore and the bald-crested mountains of Acadia National Park, but mostly to hole up for two solid weeks in an intensive course on the hottest topics in genetic research. The Short Course in Medical and Experimental Mammalian Genetics, the curriculum they’re enrolled in, has become something of a “must take” for serious geneticists. Jointly orchestrated by Hopkins’ eminent medical geneticist Victor A. McKusick, M.D., and co-directors at The Jackson Laboratory (“The Jax”) in Bar Harbor, it celebrates its 40th anniversary this summer.

Back in 1959, when McKusick came up with the idea for a summer course “to improve the woeful state of genetics education in medical schools,” he suspected that it might draw scientists from all over. What he never guessed was how vital the Short Course would become to genetics as genetics became increasingly key to medicine. The field at that point had just begun exploding in select nooks of the scientific world. Researchers in Europe had nailed the correct number of chromosomes. Then, Down syndrome was found to be a trisomy of chromosome 21, a discovery that kicked off a race to track down a slew of chromosomal aberrations. “It was a very exciting time, a golden age of clinical chromosomology,” McKusick recalls, “not unlike the period 100 years previously when the first bacteria were discovered in diseases.”

That summer while vacationing in his native Maine, McKusick—who three years earlier had founded one of the first programs in medical genetics at Johns Hopkins’ Moore Clinic for chronic diseases—stopped in at the Jackson Laboratory, a small facility that had established a reputation in the genetics of inbred mice. “It seemed to me they did the same sorts of things in mice that we did in humans: identify deviant phenotypes and attempt to determine whether they’re genetic, what the basic defect is and what can be done about it,” McKusick remembers thinking. Over lunch at Testa’s Restaurant, he and John Fuller, the assistant director for training at Jackson and a founder of the field of behavioral genetics, dreamed up a collaborative course. It would be based in Maine and highlight the most recent genetic-research advances in both human-disease and mouse models. They imagined an informal but rigorous experience—like summer camp—for students and faculty alike, mixed with genetics immersion.

The course’s handpicked group of lecturers from the beginning were a veritable “Who’s Who” of experts: one-third Hopkins faculty, one-third Jackson staff and one-third eminent “guests” from other institutions. To fund faculty travel expenses, living arrangements and a small per diem, McKusick turned to the March of Dimes whose medical advisory board he served on. The organization was just shifting its focus from polio to birth defects, and McKusick was convinced the genetics course would fit right into this new mission.

To solicit students, McKusick mailed fliers to medical-school deans around the country, inviting them to pick physicians and basic scientists from their campuses who would benefit from learning the fundamentals of genetics and also the latest from ground-breaking labs. “The course filled a void,” McKusick acknowledges. “There were symposia all over the place about popular topics like biochemical genetics, but there were no other intensive courses that promised to cover the waterfront. It didn’t hurt,” he adds, “that we would be meeting on the Maine coast.”

So he wasn’t surprised when the premier session, slated for the summer of 1960, booked up in no time with 45 students from all over the country who sent letters and C.V.s to request admission. Most were prominent physicians from specialties like neurology, hematology, endo-crinology and dermatology, who were curious about how genetics related to their fields. A few were medical-school deans who wanted to learn what they “should be doing about genetics.” There was no registration fee.

Students and lecturers—many with their families—arriving in Bar Harbor rented cottages from townspeople or stayed in local inns or dorms. The daily schedule began promptly at 8:30 a.m. and moved along as McKusick punctually rang a bell. For four hours every morning, participants listened to back-to-back lectures in the ballroom of a waterfront estate near the lab that had been willed to Bowdoin College. Afternoons were free to sightsee and meet other scientists, but in the early evening another hour and a half of class commenced.

For many clinicians, the mouse part of the course was strikingly new, though the lectures hit on familiar topics, like one by a Jax scientist who’d discovered an early mouse version of muscular dystrophy. “Victor and John Fuller were ahead of their time,” says Thomas Roderick, Ph.D., of Jackson, who taught in the first session and later co-directed the course with McKusick for 16 years. “It wasn’t even known then that there would turn out to be so much parallelism between the mouse and human genomes.”

For junior scientists, the big names around for two weeks were daunting. Biochemical geneticist Charles Scriver, M.D., now Alva Professor of Human Genetics at McGill University, was just beginning his research career when his adviser recommended him for the 1961 session. “You attended lectures, and the people talking were the same people who were writing the articles and the books. Everyone stood out,” he says, listing some giants who appeared in the early days: Ned Boyer, Barton Childs, John Edwards, and George Snell, not to mention McKusick. “This course assumed you already knew something about the field and then told you what happened last week.”

The big question, of course: Was the summer session doing the trick and improving genetics education? For years, it was hard even for McKusick to tell. What pleased him was that year after year, Short-Course lectures revealed step-by-step advances in the field. In 1962, the topics covered the mapping of the X chromosome and the concept of a single active X. A year later, lecturers were talking about “cracking” the genetic code. In 1966, discussions covered prenatal diagnosis by amniocentesis. By 1970, the hot topic was chromosome banding, and shortly after, restriction enzymes that cut specific sequences of DNA and could be used for gene-mapping.

Over the decades, the course went through its own contortions. In the late 1960s, mouse and human-disease lectures were separated into alternate-year offerings to ensure the mouse topics got enough attention. They were reunited in 1979, because, as McKusick explains, discussions moved so seamlessly between the species, “you could forget sometimes which was being spoken about.”

The best advertising for the rigorous course turned out to be word of mouth, and the number of applications swelled. By the 1970s, student attendance burgeoned to 120, and lectures had to be moved first to a nearby elementary-school auditorium and later to the auditorium on the Jax campus. McKusick worked to keep the material fresh and acknowledges he may even have incurred some hard feelings among respected faculty who weren’t invited back to lecture simply because “the area in which they worked was no longer regarded as exciting as it had been before.”

In the mid-1970s, a handful of science journalists caught wind of the Bar Harbor get-together where researchers were divulging soon-to-be-published results and approached McKusick for permission to attend. In no time, the Short Course turned into an annual must-see for writers from publications like The New York Times, The Boston Globe and U.S. News & World Report. “People were filing stories daily,” recalls Joann Rodgers, deputy director of Hopkins’ Office of Communications and Public Affairs, who covered the course as a journalist from 1978 to 1984. “There was a real effort by the geneticists to make sure the information wasn’t reserved just for the ivory tower, but available to the public.”

One of the most exciting developments McKusick observed was that the course was spurring unexpected scientific collaborations. Physicians who’d been struggling to understand a human disease would learn that a mouse model already existed and could be used in research. The casual, downeast atmosphere also helped build friendships. Reed Peyritz, M.D., a longtime Hopkins faculty member who came first as a student and returned 15 times to lecture, says it was easy for young researchers to approach senior investigators “wearing khakis, sneakers and a T-shirt, with a muffin in one hand and a cup of coffee in the other.” Without a doubt, the summertime classes changed the history of genetics. Important initial discoveries about the oncogene known as myc, for instance, came about because of two scientists who swapped ideas about techniques at a meeting in the early 1980s.

What pleased McKusick was the gradual change in the student body. Instead of mainly attracting academic physicians, the course began drawing researchers from technology and pharmaceutical companies as well as faculty from veterinary and dental schools. (The cost for the two-week session slowly climbed to $745 and twice that for those who weren’t members of academic institutions.) Even more astounding, a new cadre of young scientists were focusing their whole careers on the evolving world of medical genetics, so graduate students too became part of the mix. Hopkins now sends its fledgling Ph.D. students in human genetics to Bar Harbor every summer.

Today, the success of the Short Course is evident in one number: a staggering 3,808 students have passed through it at one point in their careers. A healthy lot of them have gone on to direct academic medical departments and incorporate genetics into their specialties. Many former students also have returned as invited lecturers as their own research has taken off. “The course has been the training ground for faculty across North America,” says Scriver from McGill. It now receives funding from the National Institute of Child Health and Human Development as well as from the March of Dimes and is that organization’s longest-standing grant recipient.

These days, science journalists arrive in Bar Harbor for what’s become a formal Press Week. The once-unscheduled afternoons are packed with workshops, clinical sessions for meeting patients with genetic diseases, and labs to develop new skills. As McKusick had hoped from the beginning, the Short Course continues to inspire genetics education. One recent attendee, Hopkins director of psychiatry Paul McHugh, M.D., attests, “Psychiatry is the new horizon in genetics.” (McKusick would say, “Genetics is the new horizon in psychiatry.”) What he and members of his department took home from the sessions, McHugh adds, has fortified their “commitment to this kind of biology.”

One frequent Short-Course lecturer, the University of Washington’s Lee Hood, M.D., Ph.D. (SOM-1964), whose technology spearheaded the sequencing of the human genome, sums up the two weeks in Bar Harbor this way: “It’s a long course that goes into considerable depth, supplementing didactic lectures with hands-on computational labs. But the students I’ve talked with are unanimously changed in how they think about science and the future.”