Dr. Leonard Pinsky, chair of the Department of Human Genetics

PHOTO: OWEN EGAN

Trained to dive into the gene pool

TIM HORNYAK | McGill students will now be able to earn graduate degrees from a department specializing in a research field that will revolutionize medicine and biology in the next millennium -- human genetics.

The Department of Human Genetics recently announced the creation of MSc and PhD programs that will begin this fall, with approvals and $150,000 in start-up funding from the Ministry of Education. They will be the first programs of their kind in Quebec.

Until now, graduate students studying in the department were awarded ad-hoc degrees through other programs in which their supervisors held appointments (most professors in the department hold cross-appointments).

But because of the recent explosion in biotechnology -- the study and manipulation of genes -- program directors recognized the value for job-seeking students in having graduate degrees in genetics proper, and not fields such as neurology or biology.

"Because of the philosophic view that genetics should be a part of all of the other biological or medical disciplines, there was never a strong feeling at McGill that there had to be a separate department of human or medical genetics," says Dr. Leonard Pinsky, chair of the Department of Human Genetics. "But living in the 1990s, we're surrounded almost every day with advances in genetics that impact on biology and on medicine.

"It's true that whether someone calls himself or herself a physiologist or a biochemist, everyone's using genetics. The same is true in the medical side of things... Most people who want to get ahead in their own discipline quickly find out that the best way to do so is to use a genetic approach."

Another advantage to having a more cohesive approach to graduate studies in human genetics is that it will ensure that all graduate students with similar interests will be under one departmental roof, interacting with one another more closely.

Pinsky is also the first and only director of the Centre for Human Genetics, founded in 1979. The centre brought together students and faculty from various disciplines to study normal or "human" genetics and abnormal or "medical" genetics.

Although the centre could not make primary faculty appointments and lacked a graduate program, it trained MSc students in genetic counselling to work as part of a medical team involving physicians and medical geneticists, delivering genetic information to patients with genetic diseases and/or their families.

In 1994, Quebec's only Department of Human Genetics was created within the Faculty of Medicine with Pinsky as its first chair. While it took another five years for proposals for a graduate program to be approved, the department was congratulated by the Quebec government for the exceptional merit of its plans to look at how information from new gene discoveries is handled and stored. The $150,000 in start-up funds for computer equipment granted to the program last December ended an April 1997 provincial moratorium on allocations for new programs.

Now a full-fledged academic program with 10 new students each year, human genetics plans to hire two new faculty and add more than 50 students over the next few years, as it boards the "bioinformatics" bandwagon now sweeping research centres around the world. In its simplest sense, bioinformatics is the use of computers to store and access biological information.

"We've built into our graduate programs very intensive training in the accessing and manipulation of the huge amount of knowledge of the human genome that's being generated these days," says Pinsky. "The idea is to learn at McGill and teach the rest of the world how to store information about the human genome in a way that makes it accessible and meaningful."

A good example of bioinformatics, says Pinsky, is comparing and grouping the many similar genes shared by humans and various worms, the subject of international genetics research. McGill is already one of Canada's leading contributors to the Human Genome Project (HGP), a multinational effort to map out the entire human genome, the set of 24 different chromosomes that exists in nearly all of the 10 trillion cells in the human body.

Each chromosome contains coiled strands of deoxyribonucleic acid, or DNA, the twisting, ladder-like structures that make up our genes, the fundamental units of heredity.

Partly funded by the U.S. Department of Energy and the National Institutes of Health, the HGP was formally begun in October 1990, and was to map out all of the 50,000 to 100,000 human genes in 15 years. Although the number of genes localized to particular chromosomes is now only about 7,600, advances in technology are leading researchers to predict completion of the project by 2003, two years ahead of schedule. Genes for cystic fibrosis, Duchenne muscular dystrophy, myotonic dystrophy, neurofibromatosis and retinoblastoma have already been identified, and the genome atlas will likely transform medicine and biology in the twenty-first century and beyond. McGill's Department of Human Genetics, however, will partly concentrate on learning how genes and their various products change each other.

"What we're into is not just locating physically where a gene is, but in understanding how it interacts with the neighbouring genes around it, or how the behaviour of that gene is affected by the organization or architecture of the DNA or the proteins around that gene," says Pinsky. His own research concerns genetic mutations that affect the action of male sex hormones.

"If you are looking at a skyscraper, there are people working in each office. The quality of the work that comes out of each office will depend on the person in that office primarily, but if the office has bad fumes in the ventilating system, then that person is not going to work very well... It's one thing to say here is the place where this gene is for such and such a disease, but how that mutant gene behaves depends an awful lot on what surrounds that gene."