Molecular Genetics Program



Some diseases are caused by changes in the DNA sequence of a single gene but the course of the illness can be modified by changes in other genes. This type of genetic disease has been known for many years. More recently it has been recognized that heritable changes in the functions of some genes can occur without changes in the sequence of that gene. These epigenetic changes in DNA structure are likely to be very important in understanding some diseases and normal and abnormal development.


Researchers in the CHRI Molecular Genetics Program investigate both traditional paediatric genetic diseases such as cystic fibrosis and metachromatic leukodystrophy and study epigenetic changes that control the expression of genes.


The program has become one of the major focal points for human genetics research and teaching at the University of Western Ontario.


Mission
• To understand genetic causes of childhood diseases
• To develop approaches to the treatment of genetic disease


Relevance of the Program
Important advances are being made in the identification of genes that cause disease. The completion of the Human Genome Project has opened new and exciting opportunities to improve our understanding and treatment of many human diseases.


The immediate impact of the Molecular Genetics Program is the identification of disease-causing genes in children. This not only provides a diagnosis for the child, but enables parents to receive informed genetic counseling.


Long-term benefits of the program include an understanding of the role of epigenetic changes in DNA structure as a mechanism for influencing both normal development and disease processes.


Opportunities Created
Molecular geneticists in the program are able to use their knowledge and skills to collaborate with scientists from a variety of other programs within CHRI and the Lawson Health Research Institute, notably the Developmental Biology Program and London Regional Cancer Program. Direct interactions with clinical geneticists enable research results to be introduced into clinical practice.


The scientists have a significant role in teaching and training students in genetic research and in teaching genetics to medical students. Some scientists also contribute to the provision of clinical genetics services and facilitate interaction between clinicians and basic scientists.

Future Direction
The Program will increase in size and establish a graduate program in Human Molecular Genetics.


Our Team


Chair:
Dr. Tony Rupar


Scientists:
Dr. Nathalie Bérubé
Dr. Fred Dick
Dr. Gilles Lajoie
Dr. Shawn Li
Dr. Mellissa Mann
Dr. David Rodenhiser
Dr. Richard Rozmahel


Associate Scientists:
Dr. Peter Ainsworth
Dr. Jack Rip
Dr. Shiva Singh
Dr. Jie Xu