Resources for Patients, Family Members, and Health Professionals
General Resources:
Learn About Genetics:
Learn About Inborn Errors of Metabolism (Inherited Metabolic Disorders):
Inherited Metabolic Disorders: Symptoms, Diagnosis & Treatment – Cleveland Clinic
Inborn Errors of Metabolism – Intermountain Healthcare
Metabolic Disorders – MedlinePlus
Inborn errors of metabolism – MedlinePlus Medical Encyclopedia
What is an Inherited Metabolic Disorder? – Metabolic Support UK
What Are Inborn Errors of Metabolism – YouTube
Learn About Rare Diseases:
GARD (Genetic and Rare Diseases Information Center)
MedlinePlus – Genetic Conditions
Learn About Mitochondrial Disease:
Mitochondrial Learning Tool – London Health Sciences Centre
Learn More About DNA Testing:
Discovery DNA – Click on “Learning Videos” at the top of the screen
What are the different types of genetic tests? – MedlinePlus Genetics
What is genome-wide sequencing? – Genome-wide Sequencing Ontario
Whole Exome Sequencing Secondary Findings – YouTube
Support/Advocacy Groups:
CORD (Canadian Organization for Rare Disorders)
NORD (National Organization for Rare Disorders)
RDI (Rare Diseases International)
CHRIM (Children’s Hospital Research Institute of Manitoba)
How to Collect Your Cheek Swab Sample:
Discovery DNA – Click on “Specimen Details” at the top of the screen and scroll down to the last page (page 8)
ORAcollect DNA user collection instructions – YouTube
Academic Resources:
Genetics & Metabolism – UM Libraries Homepage
Web Resources:
OMIM (Online Mendelian Inheritance in Man)
ACMG Newborn Screening ACT Sheets and Algorithms
Genetics Education Canada Knowledge Organization
Human Phenotype Ontology (HPO) Browser
Metabolic Programs in Canada:
Canadian College of Medical Geneticists
Drug Approval Process in Canada:
Drug and Health Product Review and Approval – Canada.ca
Patented Medicine Prices Review Board
CADTH (Canadian Agency for Drugs and Technologies in Health)
pCPA (pan-Canadian Pharmaceutical Alliance)
