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SickKids

Clinical & Metabolic Genetics

Location:
555 University Avenue
Phone:
416-813-6390
Fax:
416-813-5345
smiling young boy in the hospital with his caregiver

Since 1947

The first clinical genetics service in Canada was established at the Hospital for Sick Children in 1947 by Dr. Norma Ford Walker. Since then, the landscape of genetics has changed significantly, with the influx of new knowledge presented to clinical and diagnostic genetics services. In the past, geneticists focused on defining rare diseases with attendant risks provided through genetic counselling.  

Currently, we are in the midst of exponential growth of genetic information paving the way for huge changes in genetics healthcare and delivery – personalized and focused individual targeted genetic treatment.   

We aim to advance the molecular and biochemical pathophysiology of rare and complex disorders, develop and implement targeted therapies, and support the establishment of population genomics to deliver on the promise of Precision Medicine. 

What we do

The role of the Division of Clinical and Metabolic Genetics at SickKids is to develop and maintain facilities, services and personnel for the diagnosis, management and genetic counselling of individuals/families affected with or at risk for the development of genetic disorders. While most families referred for genetic services will come from southern Ontario, particularly the Greater Toronto Area, the division also accepts referrals from other Canadian and international centres. 

In addition to the General Genetics, Genetic Metabolic, and Genetic Counselling clinics, a number of subspecialty clinics have been developed, including Craniofacial, Overgrowth, Skeletal Dysplasia, 22q Deletion Syndrome, Cardiac, Neurogenetics, Neurofibromatosis, Cleft Lip and Palate, PKU, Cancer GeneticsGaucher disease, and mitochondrial disorders.  

The Division is heavily involved in several programs within the University of Toronto hospital network that include Cancer Genetics, Adult Genetics and Prenatal Diagnosis Programs. The Division uses excellent specialized laboratories facilities available at SickKids including molecular genetics, biochemical and cytogenetics as well as needed testing outside the country with prior arrangements. 

For additional information on genetics services, view the Medical Genetics & Genomics at SickKids information sheet.

To make a referral

  • All patients require a referral to visit our clinic. 
  • If you are a health-care professional, log in to eCHN to submit your referral. From your eCHN account, you will be seamlessly connected to SickKids e-referral platform, EpicCare Link. 
  • Learn more about our referral process.

Programs and services

Expand the sections below to learn more about our programs and services.

Information coming soon.

Information coming soon.

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Key staff

Expand the sections below to see staff lists for SickKids' Clinical and Metabolic Genetics, including nurses, dieticians, physicians, administrative staff and more.

  • Dawn Cordeiro  
  • Vivian Cruz 
  • Meghan Fraser 
  • Margaret Mackrell  
  • Michelle Mecija 

For more information, see SickKids Nursing.

  • Jolynn Dickson  
  • Sarah Herd  
  • Laura Nagy  
  • Nisha Pai 

For more information, see Clinical Dietetics.

  • Dr. Eva Mamak 

  • Jean Vinette 

  • Deborah Taylor 
  • Shiela Anover  
  • Laurie Baciao  
  • Susan Dukhedin-Lalla  
  • Denese Henry  
  • Ladonna James 
  • Melanie Lameront  
  • Vanessa Luk 
  • Brittany Marshman  
  • Raman Sondhi 
  • Rozmin Visram 
  • Khadine Wiltshire 

Staff awards and achievements

Over the last five years, our staff physicians have received a number of honourable awards and recognitions. See some highlights below.

Dr. Saadet Andrews

Epilepsia Clinical Science Research Prize, American Epilepsy Society 70th Annual Meeting, Texas (2016)

Dr. David Chitayat

Clark Fraser Award for Excellence in Mentorship and Teaching, Canadian College of Medical Geneticists (2019)

Dr. Roberto Mendoza-Londono

Top 10 Most Successful Colombians in Canada, Latinos Multicultural Magazine (2015)

Dr. Andreas Schulze

Student Choice Award, Arts & Science Co-op Programs, UofT Scarborough (2015)

Dr. Neal Sondheimer

North American Metabolic Academy, Faculty (2016)

Dr. Rosanna Weksberg

Paediatrics Research Award for Career Excellence, Department of Paediatrics, The Hospital for Sick Children (2019)

Dr. Grace Yoon

Elsevier Prize, Best Oral Presentation, World Muscle Society Congress (2019)

close up of gloved hands pipetting

Research activities

Research in the Division of Clinical and Metabolic Genetics is focused on delineating genetic conditions, understanding their natural history, and defining the molecular basis of genetic disease. Collaborative links provide unique opportunities to unravel the many mysteries in genetics and medicine today.  

These include interactions with a variety of clinical departments as well as the Program in Genetics and Genome Biology and other programs in the Research Institute at SickKids, or through the University of Toronto. 

Empty lecture hall of 15 rows and a speaking podium

Education and training opportunities

This section provides information on education and learning opportunities within the Division of Clinical and Metabolic Genetics, including: 

  • Fellowship Training Programs 
  • Medical Genetics Residency Program 
  • Electives 
  • Master of Science Program in Genetic Counselling 
  • Volunteering  

You can expand each section below to read specific details.  

Our Division offers many fellowship training opportunities in both clinical and metabolic genetics. We offer one two-year non-accredited fellowship program in clinical genetics, metabolic genetics, and rare disease. As well as two three-year accredited fellowships through the CCMG in Clinical Genetics and Clinical Biochemical Genetics. Fellowships include extensive clinical exposure as well as rotations through service laboratories and a short research project. We see a wide variety of genetics problems, including dysmorphology, metabolic and prenatal cases and have a busy inpatient and outpatient service. We are backed up by biochemical, molecular and cytogenetic laboratories. 

For more information about Canadian College of Medical Geneticists Clinical Fellowships, please visit the CCMG website.  

For all Divisional Fellowships, the application deadline is the first of March one year prior to requested start date, regardless of funding type. 

Academic Year runs from July 1 to June 30. 

Please contact genetics.training@sickkids.ca for application details.  

The Centre for Genetic Medicine offers a one-year fellowship in Advanced Genomics in Rare Disease. 

The Department of Paediatric Laboratory Medicine also offers laboratory fellowships in biochemical, cytogenetics and molecular genetics that are accredited by the Canadian College of Medical Geneticists. 

The Residency Program in Medical Genetics at the University of Toronto is a five-year program accredited by the Royal College of Physicians and Surgeons of Canada (RCPSC). This includes two years of basic clinical training in paediatrics, internal medicine and obstetrics and gynaecology, followed by genetics training. The latter includes exposure to laboratory specialties (molecular genetics, biochemical and cytogenetics), clinical genetics (adult, paediatric, cancer, prenatal and specialty genetics clinics), clinical biochemical genetics, and protected research time. CaRMS Royal College of Physicians and Surgeons of Canada. 

Our programs are committed to excellence in training individuals for careers in academic and research-based genetics. SickKids is enriched by collaboration with our Research Institute and activities with the basic scientists include regular combined rounds and seminars. 

See Dr. Roberto Medoza talk with PGME about the Genetics Residency Program on YouTube. 

Please contact genetics.training@sickkids.ca for application details.  

An elective in the Division of Clinical and Metabolic Genetics enables you to explore genetics by gaining experience beyond the available curriculum as well as introducing you to various clinical activities of the division which include outpatient clinics (General Genetics, Genetic Metabolic and subspecialty), the inpatient consult service and educational activities, such as departmental rounds and seminars.  

For further information, please visit the following:  

The AFMC Student Portal 

International Elective Students AFMC Portal

Postgraduate Medical Trainees Electives Program, University of Toronto

Please contact genetics.training@sickkids.ca for more details.

The graduate Department of Molecular and Medical Genetics at the University of Toronto in collaboration with the Division of Clinical and Metabolic Genetics at SickKids, has established a Master of Science degree in Genetic Counselling. The first class was accepted for the 1998/1999 academic year. The program incorporates academic and clinical training to provide students with the knowledge and skills to function as competent genetic counsellors in a variety of settings. The program was designed in accordance with the practice-based competencies of The American Board of Genetic Counseling.

 Our internationally distinguished faculty is committed to: 

  • Comprehensive and compassionate genetic counselling 
  • Leading edge research in the diagnosis and treatment of genetic diseases 
  • Excellence in education 

Cheryl Shuman, MS, CGC Program Director  

David Chitayat, MD, FABMG, FACMG, FCCMG, FRCPC Medical Director 

Riyana Babul-Hirji, M.Sc, CGC Assistant Program Director  

Susan Armel M.Sc.CH, CGC Assistant Program Director  

For more information about this program please see the University's M.Sc Genetic Counselling Program website, and/or email: mscgc.inquiries@sickkids.ca 

If you are interested in volunteering in the Division of Clinical and Metabolic Genetics, please complete the Volunteer Information Form along with a copy of your CV/Resume and send to genetics.volunteer@sickkids.ca.

Your application will be added to our divisional database which faculty can access when they are looking for a volunteer. We keep all applications on file for eight months.  

Learn about all volunteer opportunities at SickKids here.

Events, symposiums and educational awards

Expand the sections below for more details.

The Division of Clinical and Metabolic Genetics/Genetics and Genome Biology Program, in conjunction with Prenatal and Adult Genetics at Mount Sinai Hospital host Genetics Grand Rounds bi-monthly on Thursday from 9 to 10 a.m. The goal of our grand rounds program is to present state of the art analyses and research on topics relevant to Genetics/Genomics. The expertise of the audience is wide-ranging, including: physicians, scientists, genetic counsellors, trainees, nurses, social workers, etc.  

Details concerning Genetic Grand Rounds are sent out via email by Khadine Wilshire. Please contact khadine.whiltshire@sickkids.ca if you wish to be added to the distribution list, or if you have any questions regarding Genetics Grand Rounds. 

Our biannual Research Day which is focused on highlighting and promoting the research work of our healthcare professionals (i.e. Physicians, Genetic Counsellors, Nurses, Social Workers, Trainees/Fellows, Dieticians, etc).

Participants are asked to submit abstracts for presentation either orally or via poster that outlines the research work undertaken through our Division. The goals of the Research Day are to recognize the outstanding research conducted in the division, showcase publications, and promote and foster collaboration within the division. 

The Division of Clinical and Metabolic Genetics is offering an annual summer student award made possible by the Starbucks Coffee Company Endowment Fund that will enable students to participate in a clinical genetics/genomics research project at the Hospital for Sick Children for a 12-week term (May-August). The research projects that the awarded students will participate in will be chosen by the Starbucks Students Award Committee.

At the time of application, students must be in 1st, 2nd, 3rd or 4th year of an undergraduate degree program. Students in medical school may also apply. Students must be Canadian citizens or permanent residents of Canada.

The stipend for the award is $6,334 for the 12-week program ($14.25 + 6% vacation for a 35-hour work week). To apply, students must submit the following: letter outlining past relevant experience, personal objectives including how this experience might ultimately support any future goals, current CV, university level transcripts and two letters of reference. Letters of reference should be sent directly from the referee to Khadine Wiltshire, Research Administrator. No minimum grade point average (GPA) is required to be eligible to apply to the program, however, these positions are highly competitive, therefore, a strong GPA is advantageous.

Applications can be submitted to khadine.wiltshire@sickkids.ca no later than midnight February 16, 2021. Please note "Starbucks Student Award" in the subject line.

For any questions or further information, please contact Khadine at khadine.wiltshire@sickkids.ca.

Contact Clinical & Metabolic Genetics at SickKids

Phone: 416-813-6390

Fax: 416-813-5345

Address:

Clinical and Metabolic Genetics 
The Hospital for Sick Children 
555 University Avenue 
Toronto, ON 
M5G 1X8 
Canada 

Education and volunteering contacts:

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