Resources for Patients, Family Members, and Health Professionals

General Resources:

Learn About Genetics:

MedlinePlus: 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

Rare Disease Report Podcast

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:

Garrod Association

Canadian College of Medical Geneticists

Drug Approval Process in Canada:

Drug and Health Product Review and Approval –

Patented Medicine Prices Review Board

CADTH (Canadian Agency for Drugs and Technologies in Health)

pCPA (pan-Canadian Pharmaceutical Alliance)