The Department of Genetics (1934–1970)

Dr. F. Clarke Fraser joined the Department of Genetics in 1950 and began what has become recognized as a distinct discipline in genetics: teratogenetics. This is the study of genetic disposition to the action of environmental factors that results in birth defects. These studies were conducted on inbred strains of mice, and they have spawned important derivative studies in man.

Dr. Fraser succeeded in recruiting a nucleus of geneticists to the Department of Genetics to work in the areas of human cytogenetics, hereditary convulsive disorders, and mammalian developmental genetics. Clarke Fraser and these colleagues supervised many M.Sc./Ph.D. students in the Department of Genetics during this early era of Human Genetics at ³ÉÈËVRÊÓƵ.

In the early 1960s it became apparent that Human Genetics had grown to the point where it constituted a viable entity sufficiently distinct from general genetics so as to merit recognition at ³ÉÈËVRÊÓƵ by the formation of the Human Genetics Sector (1965), under the direction of Clarke Fraser. This remained administratively within the Genetics Department, but had a separate budget for the support of its professional and technical academic staff. Graduate students continued to receive their degrees in the Department of Genetics, and postdoctoral fellows added to the academic quality and productivity of the Sector

In the late 1960s, a move to merge the Departments of Botany, Genetics and Zoology was supported by an external review committee, the Stern Committee. It recognized Human Genetics as a major strength at that time, and recommended that this strength be maintained in the proposed Biology Department. Since the proposed merger would have been seriously weakened by the omission of the Human Genetics Group, Dr. Fraser agreed to relinquish the semi-autonomy of the Human Genetics Sector, and its members formed the Human Genetics Group in the new Biology Department in 1970. Graduate students in Human Genetics now registered in the Biology Department.

The Division of Medical Genetics at the Montreal Children's Hospital (1950–)

Medical Genetics, at ³ÉÈËVRÊÓƵ, began in 1950 when the Department of Genetics at ³ÉÈËVRÊÓƵ and The Montreal Children's Hospital jointly initiated a Division of Medical Genetics at the Montreal Children's Hospital, under the direction of F. Clarke Fraser. At that time the discipline of Medical Genetics was still in its infancy: it consisted mostly of pedigree collecting to establish modes of inheritance and recurrence risks.

By 1960 the picture had changed dramatically. It was recognized that inborn errors of metabolism were not only useful tools for the analysis of normal biochemical pathways, but actually, or potentially treatable. A major extension in scope of the Department of Medical Genetics to include this area occurred with the advent of Charles R. Scriver, and the creation of the de Belle Laboratory of Biochemical Genetics.

At about the same time, the new ability to count and describe human chromosomes led to the creation of a Cytogenetics Laboratory (attached to the MCH), for the purpose of diagnosing certain syndromes of congenital malformations before and after birth.

The development of a blood test for mass screening in the newborn population to detect a variety of inborn errors of amino acid metabolism (Scriver and Clow) led to the founding of the Quebec Network of Genetic Medicine. This network became internationally famous as a model for delivering Genetic Healthcare services to large populations.

A major milestone that recognized Medical Genetics as an important biomedical research discipline in Canada was the formation, in 1972, of the Medical Research Council Medical Genetics Group. MRC groups are established to provide relatively long-term support to interactive scientists who work in areas that MRC considers important to promote. The Principal Investigators were all based at the Montreal Children's Hospital. During successive renewals, the Group expanded to include researchers from the Montreal General Hospital, the Royal Victoria Hospital and the Jewish General Hospital. Currently, under the direction of Rima Rozen and the sponsorship of the Canadian Institutes for Health Research, it has entered its fourth decade of continuous funding.

Another important development during this period was the creation of the Société interuniversitaire de recherche sur les populations (SOREP; then IREP, Institut interuniversitaire de recherches sur les populations), a consortium of ³ÉÈËVRÊÓƵ, Laval and Université du Québec à Chicoutimi that was codirected by C.R. Scriver. It develops and maintains a computerized data base on the populations of the North-East Quebec regions and carries out research in the prevention of diseases related to single-locus genes that segregate at high frequency in the Quebec community (particularly in the families with origins in the Saguenay-Lac St-Jean and Charlevoix regions of the Province). It also aims to conduct basic research on treatment of such diseases. The Consortium's activities encompass historical demography, anthropology, genetic and reproductive epidemiology, population, medical and molecular genetics, law and ethics.

Finally, the MCH initiated the first, accredited, diagnostic Molecular Genetics Laboratory at ³ÉÈËVRÊÓƵ for common single-locus diseases like cystic fibrosis, thalassemias, sickle cell, etc.

Medical Genetics at ³ÉÈËVRÊÓƵ: The History of a Pioneering Research Group (1972-2009)

The ³ÉÈËVRÊÓƵ Group in Medical Genetics was formed in 1972, supported by the Medical Research Council and successor Canadian Institutes for Health Research until September 2009, making it the longest active biomedical research group in the history of Canada. We document the history of the ³ÉÈËVRÊÓƵ Group and situate its research within a broader history of medical genetics. Drawing on original oral histories with the Group’s members, surviving documents, and archival materials, we explore how the Group’s development was structured around epistemological trends in medical genetics, policy choices made by research agencies, and the development of genetics at ³ÉÈËVRÊÓƵ and its hospitals.

To read more about the publication by Christopher Canning et al., please click HERE.

The Centre for Human Genetics (1979–1993)

The Centre for Human Genetics was created in 1979. The choice of an integrative "Centre" rather than a classical independent department was based on the concept that the discipline of genetics should be integrated into all sectors of human biology and medicine: clinical, teaching and research. The first Director of the Centre for Human Genetics was Dr. Leonard Pinsky (who later became the first Chair of the Department of Human Genetics).

The objectives of the Centre were (1) to provide a corporate address/image for Human/Medical Genetics on the greater University Campus (including its teaching hospitals); (2) to promote the relevance of genetics to the categorical disciplines of biomedicine and the recruitment of human/medical geneticists to their respective departments; (3) to foster research, partly by creating a forum for interaction of supervisors and graduate students who work in various locales; (4) to coordinate genetic health-care activities among the hospitals concerned, and to represent that coordination externally; (5) to conduct the M.Sc. program in Genetic Counselling; and (6) to participate in the teaching of human and medical genetics at all levels - from baccalaureate undergraduate to medical postgraduate.

A summary of the Centre's major activities and accomplishments follows:

Medical Genetics at the Adult Teaching Hospitals of ³ÉÈËVRÊÓƵ (1985–): The establishment of Divisions of Medical Genetics within the Montreal General and Royal Victoria Hospitals under the direction of David Rosenblatt, M.D. was a signal event in the development of clinical genetic services within the ³ÉÈËVRÊÓƵ teaching hospitals. One of the first projects undertaken in these units was the application of recombinant DNA technology for the purpose of detecting carriers of the gene responsible for adult-onset polycystic kidney disease. This Division has become a referral centre of the National Program for the Pre-symptomatic Diagnosis of Huntington Chorea. With the arrival of Steven Narod, M.D. the Division initiated a major research project on the genetics of human breast cancer. With Patricia Tonin, Ph.D. Dr. Narod played an important role in the cloning of the BRCA1 and BRCA2 genes responsible for hereditary breast cancer.

, who came from the U.K. to train with Dr. Narod, has become the hereditary cancer expert with the departure of Dr. Narod to take the Chair in Breast Cancer at the University of Toronto.

The Division of Genetics at the Sir Mortimer B. Davis–Jewish General Hospital, under the direction of Leonard Pinsky, M.D., reopened in 1986. Upon the recommendation of the Centre's Standing Committee: Genetic Health-Care Services, this division has been responsible for prenatal genetic counselling at the Jewish General Hospital. Currently, the JGH has assumed a major role in the area of hereditary cancer.

Neurogenetics at the Montreal Neurological Hospital: A Neurogenetics Unit, directed by E. Andermann, M.D., Ph.D., has been an important component of Human Genetics at ³ÉÈËVRÊÓƵ since 1976. Since 1989, an active neurogenetics unit has been developed at the Montreal General Hospital under the direction of G. Rouleau. M.D., Ph.D.

M.Sc. in Genetic Counselling: In 1983, motivated in part by a CCMG survey of project need for genetic health care personnel, Dr. Pinsky began the process of organizing a program to train genetic counsellors at ³ÉÈËVRÊÓƵ. A consultation committee (C Clow, C Fraser, A Lippman, R Palmour and S Zeesman) was formed to develop a program of basic science and clinical training, and the APPC recommended to Senate that a 2-year diploma in Genetic Counselling be approved.

Because Roberta Palmour, PhD, had been involved in the development of the U California Berkeley program before coming to ³ÉÈËVRÊÓƵ, she was designated as the Director of the program, and has continued in that capacity to date. After two years of successful operation, a Master of Science degree in Genetic Counselling was approved by Senate, to be administered by the Department of Experimental Medicine. After creation of the Department of Human Genetics, the degree was granted through Human Genetics. Because ³ÉÈËVRÊÓƵ hospitals had a very strong tradition of clinical genetic counselling, it was possible to mount the Diploma (and later M Sc) program with very modest resources and utilizing, for the most part, courses already in existence in the academic curriculum. New required courses were limited to a Genetic Counselling Practicum, Field Work in Genetic Counselling and Ethical and Legal Issues in Genetics. The philosophy of the program, which continues with minimal modification, was grounded in hands-on clinical training, such that graduates of the program were ready to begin counselling in a professional capacity as soon as they were graduated. The clinical experience of our trainees and their readiness to perform professionally, has been complimented by supervisors and employers, across Canada and the United States. With the passage of time, and in response to changes in scientific knowledge, administrative practices and certification for genetic health care professionals, the M Sc in Genetic Counselling performed a self-study evaluation in 1999-2000, leading to a number of significant changes.

To address the increased need for administrative and professional supervision, Jennifer Fitzpatrick, MSc, was appointed as a salaried Associate Director. Several new courses have been developed to assist with training students in the expanded knowledge base of human genetics, amongst which is a course (Principles of Genetic Counselling) explicitly developed for the M Sc Genetic Counselling students. Although clinical training remains an extremely high priority for students in this program, there are increasing opportunities to obtain both basic science and clinical education in either didactic or interactive learning situations. A felicitous outcome of this review and reorganization of the M Sc in Genetic Counselling was the accreditation of the program by the American Board of Genetic Counselling, an accolade which increases the mobility of students trained by the ³ÉÈËVRÊÓƵ program and recognizes the continuing excellence of the program.

Standing Committee, Genetic Healthcare Services: A Standing Committee of the Centre on the Organization and Delivery of Genetic Healthcare services at ³ÉÈËVRÊÓƵ hospitals was created in late 1987. The purpose of this committee is to assess current and foreseeable needs of this activity not only for the internal benefit of the university but also to enable various ³ÉÈËVRÊÓƵ hospitals to respond, coordinately, to the demands of the Quebec Ministry of Health and Social Services. The Committee is composed of representatives from each ³ÉÈËVRÊÓƵ unit that delivers Genetic Health-Care services, and one representative from the Faculty of Medicine. The Chair of this Committee is the Director of the Centre (L. Pinsky). This Working Committee reports to an Executive Committee composed of the Executive Directors of the ³ÉÈËVRÊÓƵ teaching hospitals and chaired by the Dean of Medicine. With the re-organization of medical genetics within the ³ÉÈËVRÊÓƵ Health Centre, this committee has been largely inactive.

Centre of Excellence: Genetic Basis of Human Disease - Innovations for Health Care This network studies several genes that cause or predispose to human disease. The goal is to clone, characterize and map the genes; to determine biological function of selected candidate genes; and to discover how mutation in each causes disease. From this new knowledge, it may be possible to detect carriers of the genes and, for some, to devise a treatment or cure. The network is addressing genes involved in so-called single-gene diseases and very common multifactorial diseases; both types have to be considered in Canadian health care. It is also seeking explanations for stratification of disease-causing genes in Canadian populations. The ³ÉÈËVRÊÓƵ group consists of C.R. Scriver (Associate Director), K. Morgan (Associate Investigator), E. Skamene and R. Gravel (principal Investigators), and P. Gros, P. Hechtman and R. Rozen (Major Collaborators). The Centre began in 1990, and was renewed for another 4 years (1998).

Annual Research Day(s): The Centre has sponsored one or two Research Days per year since 1980. Research Days give graduate students and postdoctoral fellows the opportunity to present their work formally in a friendly atmosphere. Abstracts are submitted, 8 are chosen, and 15 minutes are allowed for presentation with 5 minutes for discussion. This has been a very successful venture because it permits students and supervisors working in different areas of human genetics to be exposed to the others

Theme Course for Graduate Students: This course (Advances in Human Genetics 521-670, 671,672) was designed for graduate students in human genetics, working in scientifically and geographically diverse areas, in order to expose them to current, rapidly-evolving themes in human genetics that are important to all of them. Graduate students are required to study selected readings around each of four separate themes, to be prepared to discuss them at sessions coordinated/animated by a member of the academic staff, and as a reward for the student-academic staff effort, an invited speaker of international prominence is invited to address the theme.

Other Coordinative Activities: These include the Scientific Seminar Series that permits academic staff members to present their own work in depth, and ³ÉÈËVRÊÓƵ Genetics Rounds: Case Presentations that permits clinical genetic colleagues to share their experiences.

Department of Human Genetics (1993–2003)

The growing importance of genetics in all branches of biomedicine has become apparent to everyone. ³ÉÈËVRÊÓƵ's initial response to this marked trend was to create the Centre for Human Genetics in 1979.

During the course of the Centre's 13-year lifespan, it became apparent that the administrative limitations of a Centre restricted the recruitment of new human/medical geneticists to ³ÉÈËVRÊÓƵ, prevented the operation of graduate student programs, and may impair the academic development and recognition of individual academic staff.

Therefore, in 1993, a Department of Human Genetics was created to: a) provide the administrative superstructure, fiscal and physical resources to recruit and support a group of world-class researchers in human/medical genetics; b) continue the many coordinative roles of the present Centre throughout ³ÉÈËVRÊÓƵ, including Genetic Health-Care Activities among the teaching hospitals concerned; c) offer a graduate training program leading to M.Sc. and Ph.D. degrees; d) offer an introductory course in Medical Genetics to Phase II medical students, and appropriate teaching of the Practice of Genetics to physicians in postgraduate training or continuing medical education; e) participate in the teaching of undergraduate human genetics courses within the Department of Biology.

Before the creation of the Department, a member of the Department of Human Genetics who was able and willing to supervise the training of one or more graduate students had to do so under the jurisdiction of another department that had a graduate training program, and in which the member had a cross-appointment. These departments included: Biology, Medicine, Surgery, Neurology and Neurosurgery, Pathology, Psychiatry, Microbiology. Although it had often been possible to gather appropriate supervisory committee members from various departments, the ones named do not have a critical mass of human/medical geneticists, and this was unsatisfactory. These departments have their own set of graduate student course requirements that often do not coincide with the needs of graduate students in human/medical genetics, as perceived by the students and/or their supervisors. Indeed, these in-coordinate priorities often discourage potential graduate students from enrolling at ³ÉÈËVRÊÓƵ as graduate students in human/medical genetics. Furthermore, in this decade when human/medical genetics has become the dominant discipline in biomedical research, potential graduate students often wanted to train in a laboratory within a department of human/medical genetics, and they wanted to get their graduate degrees from such a department.

The graduate student program in the Department of Human Genetics provides graduate students who lack it access to human and medical geneticists. It provides an alternative program to those who desire one, and it increases cohesion and interaction among graduate students in Human/Medical Genetics. Their primary departmental allegiances were previously very scattered Notwithstanding these advantages, members of the Department have continued to serve on graduate student supervisory committees in other departments and vice versa.

Dr. Thomas Hudson, who joined the Department of Human Genetics in 1996 launched a genome laboratory at the ³ÉÈËVRÊÓƵ Health Centre which rapidly grew as a major Canadian hub in genomics and related technologies. In 2003, this laboratory moved to the ³ÉÈËVRÊÓƵ campus, and was renamed "³ÉÈËVRÊÓƵ and Genome Quebec Innovation Centre". This world-class research facility for genomics and proteomics initially focused on complex genetic disorders such as cardiac disease and asthma, but gradually assumed a critical technology role in a number of large-scale research initiatives in Canada and on the international scene. These projects include haplotyping of the human genome (HapMap) and defining the regulatory mechanisms of gene expression. High throughput genomics research is supported by three essential platforms: genotyping, sequencing and DNA microarrays. The proteomics platform provides high quality protein analytical services. All platforms work in parallel to provide comprehensive, reliable service to investigators. The Centre acts as a vast resource of knowledge and technology to the academic, industrial and commercial sectors. Apart from its service commitments, the Centre is proud to act as a development facility for the future leaders in genomics and proteomics. The facility supports the training of post-doctoral fellows and graduate students in new biotechnologies and acts as a beta-site for developing new research products. With the departure of Dr. Hudson for Toronto in 2006, the Innovation Centre remains a major strength of the Department and the home of key faculty members: Ken Dewar, Jacek Majewski, Robert Nadon, Tomi Pastinen, and Rob Sladek.

In 2001, with support from the Department of Oncology, the Program in Cancer Genetics was established under the direction of Dr. William Foulkes. Program members include Patricia Tonin (Associate Professor) Ala-Eddin Al Moustafa (Assistant Professor), Jean-Sébastien Brunet (Statistical Consultant) and Brigitte Poinsier (Program coordinator). The main aim of the Program is to conduct high-impact research into all aspects of hereditary cancer. In addition, Dr. Tonin has organized a new MSc/PhD level course entitled "Inherited Susceptibility to Cancer". There is full liaison across the ³ÉÈËVRÊÓƵ hospital sites and the inter-departmental nature of the Program has fostered strong links with the Departments of Oncology and Pathology at ³ÉÈËVRÊÓƵ, as well as with other departments both inside Canada and beyond.

Dr. Leonard Pinsky retired as the founding director of both the Centre for Human Genetics and the Department of Human Genetics in 1999.

In 2001, Dr. David Rosenblatt assumed chairmanship of the Department, and was appointed for a second term in 2005. The past few years have seen the number of graduate students grow to over one hundred. The Department has undertaken a complete review of its teaching at the graduate and undergraduate levels. The M.Sc. genetic counselling program has obtained certification by the American Board of Genetic Counseling. There has been the creation of hospital departments of Medical Genetics at the Jewish General Hospital (2005-Dr. David Rosenblatt, Chief) and at the ³ÉÈËVRÊÓƵ Health Centre (2007-Dr. Teresa Costa Chief). The ³ÉÈËVRÊÓƵ RUIS has set up a RUIS Genetics Subcommittee (2007) to advise the ³ÉÈËVRÊÓƵ RUIS executive committee on issues regarding both existing and emerging activities and needs in the area of genetics. The Department has been highly successful in maintaining its international reputation for excellence.

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