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GENETICS

Pour joindre le bureau, appelez au : 514-412-4427 (general

Pour prendre un rendez-vous, appelez au : 514-412-4427 (general

Pour envoyer une télécopie : 514-412-4329 (general)

Adresse Internet : www.medgen.mcgill.ca

Services offerts :

Prenatal Genetics:
514-412-4432
514-412-4385 (fax)

Medical Genetics services are provided by a multidisciplinary team comprised of geneticists, endocrinologists, pediatricians, molecular geneticists, cytogeneticists, genetic counsellors, dieticians, and nurses. The goal is to diagnose, treat and prevent congenital and hereditary disorders. Telehealth services available on demand.
 

The team provides subspecialized services in the field of Clinical, Biochemical and Molecular Genetics as well as Prenatal Diagnosis within the McGill System at several different hospital sites (Montreal Children’s, Royal Victoria, Montreal General and Jewish General Hospitals). We provide preconception, prenatal and postdelivery evaluation, as well as risk assessment and counseling. We offer community screening for Tay-Sachs and ß-thalassemia, and serve as a referral centre for Trimethylaminuria, MPS I, and Fabry disease, as well as other common hereditary metabolic conditions.
 

The Division also provides mutation analysis for the following diseases: Cystic Fribrosis, alpha-thalassemia and beta-thalassemia, Tay-Sachs disease, MTHFR (methylene Tetrahydrofolate Reductase Deficiency), connexin 26 & 30, Canavan disease, and familial dysautonomia. Carrier screening for Gaucher, Bloom, Fanconi Anemia, Niemann-Pick and MLD IV is currently being set up.

We act on both patient and physician-based referrals, and provide support services to physicians, nurses and midwives involved in clinical as well as preconception/prenatal care. Our patient population consists of patients of various ethnic origins from the McGill RUIS hospitals, but also from other regional hospitals (Montreal suburbs) and various cities throughout the province.

Clinic description

Medical Genetics and Biochemical Genetics clinics, and prenatal diagnosis services for couples at risk for genetic conditions are located at the Montreal Children’s Hospital.
Outpatient clinics include a Medical Genetics Clinic, a Metabolic Disorders Clinic, a Prenatal Genetics Clinic, a Neurofibromatosis Clinic, a Genodermatosis clinic and a Lipid Clinic.

The Biochemical Genetics, Cytogenetics and Molecular Genetics Units perform various highly specialized diagnostic laboratory tests.

For patients with hereditary metabolic conditions, special dietary products can be ordered through the Quebec Alimentary Program for the Treatment of Hereditary Metabolic Disorders.

 

 


Metabolic Disorders Clinic
514-412-4418
514-412-4329 (fax)

Dr. Serge Melançon, Director
Dr. Robert Barnes
Dr. John Mitchell
Stella Drury, GC
Marie Lefrançois, RD
Donalda Thébaud, RN
Elizabeth Hillyer, Medical Secretary
Annie Capua, Administrative Technician

Molecular Genetics Laboratory
514-412-4400, ext. 23298
514-412-4478 (fax)

Dr. Patrick Scott, Director
Josée Warda, Executive Secretary

Neurofibromatosis Clinic
514-412-4427
514-412-4329 (fax)

Dr. June Ortenberg, Director
Andrée Wilkinson, Medical Secretary

QAPTHMD *
514-412-4400 ext: 23526
514-412-4283 (fax)

Dr. Serge Melançon, Director
Siphala Yak, Coordinator
* Quebec Alimentary Program for the Treatment of Hereditary Metabolic Disorders

Medical Genetics Clinic
514-412-4427
514-412-4329 (fax)

Dr. Serge Melançon, Director
Dr. Vazken M. Der Kaloustian
Dr. Fahd Halal
Dr. Laura Russell
Dr. Deborah Bartholdi
Dr. Nancy Braverman
Sui Mei Chiu, GC
Nathalie Bolduc, GC
Andrea Secord, GC
Stella Drury, GC
Susan Laurie, Administrative Technician
Sharon Walcott, Executive Secretary

Lipid Clinic
514-412-4427
514-412-4329 (fax)

Dr. Preetha Krishnamoorthy, Director
Andrée Wilkinson, Medical Secretary

Prenatal Genetics
514-412-4432
514-412-4385 (fax)

Dr. David Rosenblatt, Director
Lola Cartier, GC, Coordinator
Andrea Secord, GC
Margaret De Melo, Medical Secretary

Biochemical Genetics Laboratory
514-412-4400 ext. 22071
514-412-4329 (fax)

Dr. Serge Melançon, Director
Dr. Charles Scriver
Keo Phommarinh, Technician
Sina Yak, Technician
Annie Capua, Administrative Technician

Cytogenetics Laboratory
514-412-4432
514-412-4385 (fax)

Dr. Alessandra Duncan, Director
Dr. Miriam Blumenkrantz, Associate Director
Dr. Josée Lavoie, Associate Director
Hélène Scarpelli, Chief Technician

Quebec Alimentary Program for the Treatment of Hereditary Metabolic Disorders
514-412-4400 ext. 23526
514-412-4283 (fax)
Siphala Yak, Coordinator

Research areas
Physicians, genetic counselors, residents and students are involved in various publications and research projects. These are focused mainly on clinical problems as well as various external academic activities.

Medical breakthroughs and facts
Medical Genetics at McGill began in 1950 when the Department of Genetics at McGill and The Montreal Children's Hospital jointly initiated a Division of Medical
Genetics at the Montreal Children's Hospital, under the direction of F. Clarke Fraser. At that time the discipline of Medical Genetics was still in its infancy: it consisted mostly of pedigree collecting to establish modes of inheritance and recurrence risks.

By 1960 the picture had changed dramatically. It was recognized that inborn errors of metabolism were not only useful tools for the analysis of normal biochemical pathways but actually, or potentially treatable. A major extension in scope of the Department of Medical Genetics to include this area occurred with the advent of Charles R. Scriver, and the creation of the de Belle Laboratory of Biochemical Genetics.

 

Chef de service : Dr. Teresa Costa