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Clinical and Metabolic Genetics
Clinical and Metabolic Genetics

Metabolic Disease Unit

Metabolic Disease Unit provides diagnoses, treatments and management to the patients with inherited metabolic disorders (e.g urea cycle disorders, amino acid metabolism disorders, organic acidurias, fatty acid metabolism disorders, energy metabolism disorders, vitamin and cofactor deficiency disorders, inherited neurotransmitter disorders and many more). Metabolic staff physicians are part of international clinical trials and natural history studies (e.g. lysosomal storage disorders, urea cycle disorders, creatine deficiency disorders)

Management of patients with inherited metabolic disorders is a continuum from outpatient metabolic clinics (Mondays-Thursdays) to inpatient care as well as management of patients in their home environment through close monitoring by metabolic nurse practitioner, metabolic nurses and metabolic dieticians.  

Director: Andreas Schulze
Metabolic Staff Physicians: Andreas Schulze, Celia Atkinson, Jonathan Kronick, Michal Inbar-Feigenberg, Neal Sondheimer, Saadet Andrews 
Metabolic Nurse Practitioner: Vivian Cruz
Metabolic Nurses: Dawn Cordeiro, Michelle Mecija, Meghan Fraser, Margaret Mackrell
Metabolic Dieticians: Laura Nagy, Nisha Pai, Sarah Herd, Jolynn Dickson
Genetic Counselors:
Stacy Hewson, Abby Watts-Dickens
Social Worker: Mary Benedetti
Admins: Melanie Lameront, Lackshy Thambiaiah, Denese Henry

Subspecialty Clinics

Phenylketonuria Clinic
Inherited Neurotransmitter Diseases Clinic
Lysosomal Storage Diseases Clinic

Phenylketonuria Clinic

Director, Metabolic Staff Physician: Neal Sondheimer
Metabolic Nurse Practitioner: Vivian Cruz
Metabolic Nurse: Dawn Cordeiro
Metabolic Dieticians: Laura Nagy, Nisha Pai, Sarah Herd

Patients with PKU are diagnosed, treated and monitored in the Phenylketonuria Clinic with phenylalanine-restricted diet and/or sapropterine as multidisciplinary team.

Inherited Neurotransmitter Diseases Clinic

Metabolic Staff Physician: Saadet Andrews
Metabolic Nurse: Dawn Cordeiro
Metabolic Dieticians: Nisha Pai, Sarah Herd, Jolynn Dickson

Patients with inherited neurotransmitter disorders (e.g. PTPS, DHPR, SSADH, PCD, AADC, TH deficiencies) are diagnosed, treated and monitored in this clinic as multidisciplinary team. This clinic is part of International Working Group on Neurotransmitter Related Disorders (iNTD) which is a web-based international patient registry.

Lysosomal Storage Diseases (LSD) Clinic

Metabolic Staff Physician: Michal Inbar-Feigenberg
Metabolic Nurses: Michelle Mecija, Margaret Mackerel

Appreciating the complex needs of our LSD patients and their families, in an attempt to improve care and address all clinical and psychological needs of our patients under the same roof, we opened a specialized clinic for lysosomal diseases patients. Patients with lysosomal storage disorders (e.g mucopolysaccahridosis, mucolipidosis, Krabbe’s disease, metachromatic leukodystrophy, Fabry disease, Gaucher disease and Pompe disease) are diagnosed, treated and monitored in this clinic. Many of our patients are actively treated with enzyme replacement therapy (ERT), hematopoietic stem cell transplantation (HSCT) or participate in variety of clinical trials.

Newborn Screening Program

Medical Director: Andreas Schulze
Genetic Counselor: Abby Watts-Dickens
Nurse: Meghan Fraser
Social Worker: Mary Benedetti
Admin: Lackshy Thambiaiah

The program retrieves 800-1000 neonates tested positive for one of the newborn screening conditions through the Ontario Newborn Screening every year. The confirmation/exclusion of the disorder in question follows algorithms specific to each disorder. These algorithms have been established and are reviewed annually under the guidance of the medical leads of each subspecialty (i.e. endocrinology, metabolics, pulmonology, haematology, immunology).

Metabolic Basic or Clinical Research Resources

Link to Genetics & Genome Biology

For metabolic staff physician research interests, please see the following: