Annual Report 2009/2010
ANNUAL REPORT 2009/2010
The Hess B. and Diane Finestone Laboratory in Memory of Jacob and Jenny Finestone was established in 1988 to honour the memory of Jacob and Jenny Finestone and the 80th birthday of Mr. Hess B. Finestone by providing a permanent endowment at McGill University devoted to the advancement of medical genetics. The specific objectives of the endowment are to a) fund research projects related to the field of medical genetics; b) fund trainees in the field of medical genetics; and c) publicize the field of medical genetics through the support of special lectures, visiting professorships and other appropriate means. Dr. David S. Rosenblatt has been Director of the laboratory since its inception. This Finestone report will restrict itself to the activities of the Director. Material previously found in this report relating to members of the Department of Human Genetics at McGill and the Departments of Medical Genetics at the McGill University Health Centre and the Jewish General Hospital should be sought in the respective university or hospital annual reports.
The Hess B. and Diane Finestone Laboratory in Memory of Jacob and Jenny Finestone is located at the Montreal General Hospital Site of the McGill University Health Centre. It is one of two major international referral laboratories for the diagnosis of patients with inherited disorders of folate and vitamin B12 transport and metabolism. It is involved in studying the biochemical and molecular bases of these diseases. Since Dr. Rosenblatt directs a certified molecular diagnostic laboratory adjacent to the research laboratory, advances in knowledge from research can be immediate translated to clinical diagnosis.
2009-2010 has seen a number of scientific accomplishments:
1. With colleagues in California, we have shown that with the advent of expanded newborn screening, there will be unusual clinical presentations of patients. We published, in the Journal of Pediatrics, a report of an asymptomatic mother, who was diagnosis as having the cblC inborn error of vitamin B12 metabolism, based on an abnormal screening result in her baby.
2. With colleagues at the Cleveland Clinic, we showed that the product of the MMACHC gene that is responsible for cblC is capable of processing alkylcobalamins. This work was published in Molecular Genetics and Metabolism.
3. With Fei Li, a McGill undergraduate student, we published, in Molecular Genetics and Metabolism, a systematic review of the role of vitamin B12 in birth defects.
4. With David Watkins, four chapters relating to folate and vitamin B12 metabolism were published in major texts.
5. Dr. Rosenblatt presented a plenary session at the International Congress of Inborn Errors of Metabolism (ICIEM) in San Diego on the role of homocysteine in heart disease.
Department: Biology/Human Genetics
Title: Inborn Errors of Folate and Cobalamin Transport and Metabolism
Role: Lecturer and Course Coordinator
Time: 6 hours
Department: Human Genetics
Format: Lecture and Small Group Teaching
Role: Lecturer-2 sessions
Title: Introduction to Medical Genetics Huntington Disease
Level: Medical Students
Time: 2 lectures plus 3 2-hour sessions, 8 hours in total
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