MISSION:

The purpose of the Medical Genetics Research Group is to promote research and dissemination of knowledge concerning the nature of genetics variation in humans including the cause, distribution and treatment of genetic disease and congenital malformations, and to facilitate the delivery of medical genetics health care services to the population of Manitoba and appropriate surrounding areas.

Areas of specialty covered within the program:

The group has three main areas of research reflecting its wide-ranging, though complementary, interests in medical genetics. These are: dysmorphology and reproductive genetics (analysis of the frequency and nature of congenital malformations; prenatal diagnosis and screening; developmental genetics in human and appropriate model organisms); molecular epidemiology (analysis of complex Mendelian and non-Mendelian disorders; analysis of mutations in populations; neonatal, heterozygote and presymptomatic screening), and molecular genetics and cytogenetics (structure, function and interaction of genes involved in genetic disease; model organism research for genetic mechanisms predisposing to disease; molecular evaluation of chromosomal anomalies).

Novel or innovative features of the program:

Compared to many other programs involved with medical genetics research in Canada, ours is unusual with respect to its multidisciplinary approach and the extent to which there is close integration between research, training and provision of health services.

Past and present group members have provided leadership at the national level in many of these areas such as initiating the first maternal serum screening program in Canada, developing the first training program in Medical Genetics recognized by the RCPSC, developing the first randomized controlled trials of amniocentesis and chorionic villous sampling as prenatal diagnostic techniques.

The extent to which the program responds to current or future needs of Manitoba and/or Canada:

Many members of the group are also involved in provision of genetic services to Manitobans and individuals and families from neighbouring provinces and territories. Thus enhancement of services is an integral part of the group’s mandate and has led to a number of research initiatives. For example, the work of Drs Greenberg and Prasad on CPT1 deficiency in the Inuit has allowed better targeting of populations for neonatal screening and improved management strategies for at risk infants. Dr. Jane Evans was the Manitoba lead in a CIHR funded study of neural tube defects in seven Canadian provinces that showed a significant decrease in these anomalies since the fortification of flour with folate became mandatory.

Several group members including Dr. Bernie Chodirker are members of the Manitoba Maternal Serum Screening Program and have been directly involved in studies that have led to modifications to the screening program such as screening for Smith-Lemli-Opitz syndrome and the integration of nuchal thickness screening with biochemical markers.

Thus group members attempt to be both responsive to newly recognized medical genetics problems in our region and country, and proactive in initiating new research initiatives that may also have the potential for rapid knowledge transfer.      

The extent to which the program enhances cooperation with other groups/programs/centres in Manitoba, Canada and overseas:

The Medical Genetics Research Group is composed of a large and interdisciplinary group of researchers and clinicians with appointments in several departments of the University of Manitoba. Many hold appointments in Genetics and Metabolism or other programs of the Winnipeg Regional Health Authority. Several are affiliated with the Manitoba Institute for Child Health and one with the Manitoba Institute for Cell Biology.

Many of the people in this research group were involved in the establishment of the Centre for the Investigation of Genetic Disease and there is a close and collaborative relationship between the Medical Genetics Research group and the Molecular Genetics and Human Disease group headed by Dr. Barbara Triggs-Raine.

Group members are also involved with a number of national activities that relate to the groups mandate. For example, Dr. Jane Evans, chairs the advisory group of the Canadian Congenital Anomalies Surveillance Network; Dr. Ab Chudley recently stepped down as President of the Canadian College of Medical Geneticists and received the College's Founders Award.  Group members collaborate widely with researchers in local institutions, in other universities and hospitals across Canada and internationally. Members sit on planning and priority committees of the CIHR Institute of Genetics.  

The strengths of the program:

A key strength is the relationships between the research activities of the group and its training and service missions. Group members are involved in training in Genetics at all levels including undergraduate science (the BSc Honours program in Genetics based at Fort Garry), graduate studies (MSc, PhD), post doctoral training for both basic science graduates and clinicians (the Medical Genetics Residency program, fellowship training accredited by the Canadian College of Medical Genetics in molecular genetics and cytogenetics, as well as outreach to schools, continuing medical education etc. Thus trainees and faculty from a wide range of backgrounds learn and work together fostering mutual respect and appreciation for the benefits of a multidisciplinary team approach.   

Areas of future expansion or vision for the program:

It will be beneficial for the group to explore closer collaboration with the Aboriginal Centre for Health Research and the Manitoba Centre for Health Policy as there are clearly overlapping areas of interest. Preliminary discussions have already taken place to determine if some large scale projects integrating molecular data on patient populations and clinical databases would be feasible. Another goal is the re-establishment of the Manitoba Congenital Anomalies Surveillance System. 

One weakness of this and other programs is the fact that many members do not have the dedicated time for research that they would like, due to administrative or clinical loads. Although group members have been successful in acquiring funds for their research and have been actively publishing, lack of time prevents us from exploring other research opportunities such as the large numbers of RFAs that relate to our areas of interest.

A second problem has been one that has affected clinical research in general, that of gaining respect for work that is less hypothesis driven. It is encouraging to see that “phenomics” is finally gaining some credibility within the wider research community as lack of information concerning natural history of disease or the mechanisms responsible for non-penetrance and variable expression of genetic conditions limit the application of advances in molecular discoveries.

A final concern is also a more general one that relates to many aspects of research on human subjects and/or personal health information. Genetic studies have been documented to be considered “special” with respect to the amount of diligence that must be paid to privacy and confidentiality issues. Thus group members spend a lot of time developing and fine tuning their applications for REB approval.

Current Members:

Louise Simard, Group Director   -  louise_simard@umanitoba.ca

Shannon Chin   - srsanders@hsc.mb.ca
Bernie Chodirker   - bchodirker@exchange.hsc.mb.ca
Ab Chudley   - achudley@exchange.hsc.mb.ca
Angie Dawson   - adawson@hsc.mb.ca
Alison Elliott   - aelliott@hsc.mb.ca
Jane Evans, Group Director  - jevans@ms.umanitoba.ca
Cheryl R. Greenberg   - cgreenberg@hsc.mb.ca
Sabine Mai   - smai@cc.umanitoba.ca
Sandra Marles   - smarles@hsc.mb.ca
David Merz   - merzd@ms.umanitoba.ca
Aziz Mhanni   - ammhanni@exchange.hsc.mb.ca
Susan Phillips   - sphillips@hsc.mb.ca
Martin Reed   - mreed@exchange.hsc.mb.ca  
Beth Spriggs   - bspriggs@hsc.mb.ca
Shane Taback   - tabacksp@cc.umanitoba.ca
Barb Triggs-Raine   - traine@ms.umanitoba.ca
Gunnar Valdimarrson   - valdimar@cc.umanitoba.ca
Klaus Wrogemann   - k_wrogemann@umanitoba.ca
Teresa Zelinski   - zelinski@ms.umanitoba.ca