The Montreal Children's Hospital

MEDICAL GENETICS

To make an appointment or reach the office call : 514-412-4427 (general)

Fax: 514-412-4329 (general)

Internet Address: www.medgen.mcgill.ca

Services offered

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.

Department head:

Dr. Teresa Costa

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