Annual Report
2009/2010
Highlights:
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.
Biology
575
Department: Biology/Human Genetics
Format: Lecture
Title: Inborn Errors of Folate and Cobalamin
Transport and Metabolism
Role: Lecturer and Course Coordinator
Level: Undergraduate/Graduate
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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