|
Annual Report 2005/2006 Annual Report |
Annual
Report 2005/2006
The Hess B. and Diane Finestone Laboratory in Memory of Jacob and Jenny Finestone was established to
promote the field of medical genetics at
Dr. Ken Dewar and his group sequenced the entire 4 Mb genome of
the human bacterial pathogen Clostridium difficile,
in an attempt to understand its genome structure and virulence factors. This
organism has been responsible for significance morbidity and mortality in
Dr. Thomas
Hudson and his laboratory played a prominent role in the
International HapMap Consortium. The publication of
this work represented a major international research accomplishment of 2005.
Dr. David Rosenblatt and his laboratory discovered the MMACHC gene
responsible for the cblC form of combined homocystinuria and methylmalonic aciduria, the most common inborn error of vitamin B12
(cobalamin) metabolism.
Dr. Thomas Hudson:
|
Investigator Award |
Canadian Institute of
Health Research |
Dr. Mary Ann Thomas
completed her CCMG training in cytogenetics and has
taken up a staff position in Medical Genetics at
After more
than five years, the committee to search for a Program Director for medical
genetics of the MUHC has actually met, and there are several highly competent
applicants for the position.
The recruitment of Dr. Marc Tischkowitz
has made a major contribution to both the basic and clinical areas of
cancer genetics and general medical genetics. He is based at the Jewish
General Hospital and began working in August 2005.
Clinical Statistics:
Suzanne
Dufrasne. M.Ps, Psychologist:
Number of new patients seen: 20
Number of sessions: 40
Number of counselling phone calls: 68
Total cases seen: 128
Stephanie Fox,
Hereditary Cancer Clinic:
Counselling as of
Number of new patients seen: 62
Number of follow-up patients seen: 46
(Number of counselling phone calls: 20)
Total cases seen: 108
|
Total # new patient
(NP) visits: Total # follow-up
(FU) patient visits: |
75 45 |
|
|
115 |
|
Total # follow-up (FU)
(letters only)*: |
10 |
* this applies to patients
who were not seen in clinic for FU but received a FU results letter
Description of patient
visits by type (total = 115)
|
Total # breast
cancer cases: Total # colon
cancer cases: Total # breast Total # other cancer
cases: Total # other cases** |
64 22 5 4 20 |
|
|
115 |
** This includes counselling
for other genetic conditions which may/may not predispose to cancer (e.g.
Cowden syndrome, pheochromocytoma, hemochromatosis, MEN1, tuberous sclerosis etc.)
Prevention
Clinic, Fridays (last Friday of every month),
Total # follow-up (FU)
patients seen: 60
Research
Interests and Accomplishments of Individual Members:
Dr. Eleanor Elstein has an
active clinic, which evaluates inherited cardiac diseases as well as systemic
genetic diseases that have cardiac manifestations.
Dr. Ken Dewar and his laboratory are using genomics technologies
to study genome structure and variation. They are participating in an NIH
funded project to develop
Dr. William Foulkes’
interests continue to be focused on hereditary cancer, specifically breast,
colorectal and prostate cancer. His main contribution in 2005 was to extend his
work on the basal phenotype of BRCA1-related breast cancer. In addition, he
published several papers on Lynch (HNPCC) syndrome, in collaboration with
colleagues both in
T. Mary Fujiwara has research interests
which include the study of the distribution and maintenance of genetic
variability, including deleterious alleles in well-defined populations, in
particular, the Hutterite population of
Dr. Brian Gilfix and his
team are focused on two main areas of research: 1) Homocysteine
and its Metabolism/Inborn Errors of Metabolism (Homocystinuria)-they
have a large cohort of patients in the Adult Genetics Clinical with homocystinuria. His team is using this opportunity to
explore new treatments of homocystinuria and
investigate the effect of elevated homocysteine on
other risk factors for cardiovascular disease; 2) Development of Laboratory
Methods in Molecular Diagnostics and HPLC-they are developing and implementing
assays based on hybridization probes to replace standard assays based on
restriction fragment length polymorphism used to genotype for single nucleotide
polymorphisms in the clinical laboratory. The benefit of this is decreased net
cost and faster turn-around-time.
Dr. Thomas Hudson directs the
Dr. Ken Morgan has research interests in population
genetics, pedigree analysis, and genetic modelling.
He leads a Genetic Analysis Group that participated in two Networks of Centres of Excellence programs: the Canadian Genetic
Diseases Network (CGDN) and the Mathematics of Information Technology and
Complex Systems. His group is involved in the genetic analysis of Mendelian and complex traits in humans and mice.
Accomplishments related to human genetics include: 1) mapping Mendelian diseases in the Canadian Hutterite
population with collaborators in Calgary and Winnipeg, and further clinical
delineation of a cerebellar hypoplasia;
2) collaboration with Alexey Pshezhetsky,
Hôpital Ste-Justine, in mapping the locus for mucopolysaccharidosis IIIC (Sanfilippo
syndrome); 3) former postdoc Loredo-Osti developed
methodology for segregation analysis of a quantitative trait in sibships to find evidence for a major gene for urine
calcium excretion in families ascertained for kidney stones, a
collaboration with Alain Bonnardeaux, Hôpital Maisonneuve-Rosemont; 4) collaboration with David
Rosenblatt and mentoring of his student, Jordan Lerner-Ellis, in mapping the
locus for methylmalonic aciduria
and homocystinuria, cblC
type, and identification in mutations in the MMACHC gene; 5)
collaboration with Susie Tenenhouse (Montreal
Children’s Hospital) and collaborators in Boston to identify mutations
in the gene encoding a sodium-phosphate cotransporter
that cause hereditary hypophosphatemic rickets with hypercalciuria.
Dr. David Rosenblatt and his laboratory continue to be the major
international referral source for the diagnosis of patients with inherited
disorders of folate and vitamin B12. They
are involved in studying the biochemical and molecular bases of these diseases. Jordan Lerner-Ellis, a Ph.D. student,
succeeded in discovering the MMACHC gene responsible for combined homocystinuria and methylmalonic aciduria, the most common inborn error of vitamin B12
metabolism. This work was published in Nature Genetics and received
considerable publicity. It has allowed for carrier detection and more rapid
prenatal diagnosis in those families in which mutations are known. Emily Moras has discovered a novel mitochondrial protein binder
for cobalamin. Abigail Gradinger
has been looking at the frequency of mutations in the MCEE gene among patients
with elevated excretion of methylmalonic acid.
Dr. Marc Tischkowitz took up a position in September 2005 as Assistant
Professor in the Departments of Human Genetics and Oncology at McGill
University Faculty of Medicine. Prior to his current post, Dr Tischkowitz was a Consultant (Attending Physician) in
Clinical Genetics at the North East Thames Regional Genetics Unit,
Dr. Patricia Tonin has two
major areas of research interest. The first involves the identification of
genetic factors that are implicated in the development and/or progression of
human epithelial ovarian cancer. The second involves the study of genetic
factors that predispose to hereditary forms of beast cancer: 1) The Molecular
study of Human Epithelial Ovarian Cancer-Our knowledge of the molecular events
associated with the development and progression of epithelial ovarian cancer
has been limited by the lack of a suitable model system. Also, since the
disease is often diagnosed at a late stage when numerous complex chromosomal
changes have already taken place, the early molecular events remain largely
unknown. Deletions of chromosome 3p and 17q (distinct from the BRCA1 locus) are
frequent events in ovarian tumours of epithelial
origin. Dr. Tonin has shown deletions in low
grade, early stage tumours and therefore has
hypothesized that these chromosomal regions harbour tumour suppressor genes whose function is lost early in the
development and/or progression of ovarian cancer. The goals of the CIHR funded
projects are to refine the localization and then clone the putative chromosome
3p and 17q tumour suppressor genes. Previously, her
team published a deletion map of chromosome 3p deletions observed in a large
series of epithelial ovarian tumours. In addition
they are applying a candidate gene approach and have excluded known candidates,
such as TGF-ß-RII. They described a chromosome 3 transcriptome
based on the comparison of expression profiles of ovarian cancer cell lines
with normal surface epithelial cells using high through put oligonucleotide
expression microarrays. In this study they were able
to establish the sensitivity of detection and show that subtle changes in gene
copy number are detectable by microarray analysis. In
an effort to characterize the putative
Members
| Report | Meetings
Publications
| Funds | Financial
© 2006 Finestone Laboratory