Sources of broad information on many genomic conditions:
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GeneReviews are expert-authored, peer-reviewed disease descriptions (“chapters”) presented in a standardized format and focused on clinically relevant and medically actionable information on the diagnosis, management, and genetic counseling of patients and families with specific inherited conditions.
https://www.ncbi.nlm.nih.gov/books/NBK1116/
Online Mendelian Inheritance in Man (OMIM)
OMIM is a comprehensive, authoritative compendium of human genes and genetic phenotypes (clinical presentations) that is freely available and updated daily. The full-text, referenced overviews in OMIM contain information on all known mendelian disorders and over 16,000 genes. OMIM focuses on the relationship between phenotype and genotype. It is updated daily, and the entries contain copious links to other genetics resources. Users can search by disorder, clinical presentation or gene.
https://www.omim.org/
Orphanet is a unique resource, gathering and improving knowledge on rare diseases so as to improve the diagnosis, care and treatment of patients with rare diseases. Orphanet aims to provide high-quality information on rare diseases, and ensure equal access to knowledge for all stakeholders.
https://www.orpha.net/
National Organization for Rare Disorders (NORD)
NORD provides services for patients and their families, rare disease patient organizations, medical professionals, and those seeking to develop new diagnostics and treatments. NORD supports the rare disease community with programs and services focused on one ultimate goal: to improve the lives of individuals and families affected by rare diseases.
https://rarediseases.org/
Unique is a charity supporting, informing and networking with families living with a rare chromosome disorder, copy number variant or single gene disorder associated with a learning disability and developmental delay, among other presentations as well as the professionals they work with. Unique is a UK-based charity but welcomes members worldwide.
https://rarechromo.org/
Positive Exposure utilizes the arts, film and narratives to present the humanity and dignity of individuals living with genetic, physical, behavioral and intellectual difference. Hosts the innovative teaching tool FRAME (Faces Redefining the Art of Medical Education) is a web-based film library that changes how medical information is presented to healthcare providers in training, clinicians, families and communities.
https://positiveexposure.org/
Insurance and Genomics in Canada:
Genetic Discrimination Observatory (GDO)
The Genetic Discrimination Observatory (GDO) is a unique network of researchers and other stakeholders dedicated to researching and preventing discrimination based on genomic and other omic data worldwide. The GDO serves as a comprehensive online resource that offers a collaborative platform providing access to information and tools needed to monitor and prevent genetic discrimination.
Canadian Coalition for Genetic Fairness (CCGF)
The CCGF is a group of 18 organizations dedicated to establishing protections against genetic discrimination for all Canadians. Our mission is to educate Canadians about genetic discrimination and to influence federal and provincial governments, and other relevant organizations, to create positive change. Working together to prevent genetic discrimination for all Canadians.
Condition specific organizations and networks:
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Canadian Down Syndrome Society
The Canadian Down Syndrome Society (CDSS) is a non-profit organization focused upon human rights, health, social participation, inclusive education, and employment for those with Down syndrome.
https://cdss.ca/
Support Organization for Trisomy
SOFT is a network of families and professionals dedicated to providing support and understanding to families involved in the issues and decisions surrounding the diagnosis and care in Trisomy 18, 13 and other related chromosomal disorders. Support can be provided during parental diagnosis, the child's life and after the child's passing. SOFT is committed to respect a family's personal decision and to the notion of parent-professional relationships.
https://trisomy.org/
The Ehlers-Danlos Society is a global community of individuals, caregivers, healthcare professionals, and supporters, dedicated to saving and improving the lives of those affected by the Ehlers-Danlos syndromes (EDS), hypermobility spectrum disorders (HSD), and related conditions.
https://www.ehlers-danlos.com/
Canadian Sudden Arrhythmia Death Syndromes (SADS) Foundation
SADS refers to a variety of cardiac arrhythmia disorders which are often genetic and can be responsible for sudden death in young, apparently healthy people. Canadian Sudden Arrhythmia Death Syndromes (SADS) Foundation, a registered Canadian charity, is a patient advocacy group in Canada dedicated to supporting families affected by inherited cardiac rhythm disorders.
https://www.sads.ca/
Hearts in Rhthym Organization (HiRO)
The Hearts in Rhythm Organization (HiRO; pronounced hero) is a network of individuals dedicated to improving awareness and understanding of inherited cardiac conditions, standardizing care in Canada and preventing the tragedy of sudden cardiac death. Founded by Dr. Andrew Krahn in 2016, we started as a grassroots community of like-minded clinicians wanting to make a difference for Canadians affected by unexplained sudden cardiac arrest (SCA), and have grown into an organization that includes researchers, healthcare providers, family members and patients.
FH Canada Familial Hypercholesterolemia
Canadian FH Registry is to bring together a multi-disciplinary group of physicians, basic and clinical researchers to improve the delivery of care to patients with severe lipoprotein disorders, especially FH, and to foster collaborative research.
https://fhcanada.net/
Surrey Place is a not-for-profit organization that serves people of all ages with developmental disabilities, autism spectrum disorder and visual impairments in the Toronto region and Northwestern Ontario. As a trusted leader in the developmental services sector, we provide integrated services and inclusive support in a safe and welcoming environment. Surrey Place helps people learn new skills, gain self-confidence and reach their full potential. This site also has an abundance of resources for clinicians and their families such as the Developmental Disabilities Primary Care Program. https://www.surreyplace.ca/
A Canadian charity dedicated to promoting solutions across the spectrum and along a life span for needs of autistic Canadians and their families.
https://www.autismspeaks.ca/
Autism Canada is the amalgamation of Autism Society Canada (established in 1976) and Autism Canada Foundation (established in 2002). The organization is dedicated to education, advocacy, support and improving the lives of individuals on the autism spectrum and their families.
https://autismcanada.org/
Fragile X Foundation of Canada
Transforming the lives of individuals with Fragile X, their families, and the networks of professionals who serve them. A volunteer-based organization that facilitates community education, awareness and advocacy, as well as basic and clinical research into treatments of Fragile X and it’s related conditions.
https://www.fragilexcanada.ca/
The Hereditary Hemorrhagic Telangiectasia (HHT) Foundation International was founded by a tenacious and passionate group of patient families and physicians, who shared a hope for a better future for those with HHT. The site features resources and education, guidelines and support as well as a directory of specialized centres. https://curehht.org/ The Canadian site can be accessed here https://curehhtcanada.org/
The Canadian Cancer Society works to save and improve lives funding cancer research into all types of cancer, offering support services to help people better manage life with cancer, shaping health policies to prevent cancer and support those living with the disease, and offers trusted cancer information for all Canadians.
https://cancer.ca/
FORCE Facing Hereditary Cancer Risk Empowered
Advocacy group for adult hereditary cancer including breast, ovarian, pancreatic, prostate and colorectal. Our mission is to improve the lives of individuals and families facing hereditary cancer. FORCE accomplishes this mission by providing expert-reviewed information to help people make informed medical decisions. Our supportive community of peers and professionals ensures no one faces hereditary cancer alone. FORCE is a champion, advocating for access to care, and better treatment and prevention options.
https://www.facingourrisk.org/
The Huntington Society of Canadian aims to improve the quality of life for those affected by Huntington disease through the oversight and facilitation of excellent support services, providing access to the best and most up-to-date educational resources, increasing national and global awareness, advocacy and investing in promising research.
https://www.huntingtonsociety.ca/
Polycystic Kidney Disease Foundation of Canada
PKD Foundation of Canada’s mission is to promote programs of research, advocacy, education, support and awareness in order to discover treatments and a cure for polycystic kidney disease and improve the lives of all it affects.
https://www.endpkd.ca/
The Canadian Epilepsy Alliance (CEA) is a Canada-wide network of grassroots organizations dedicated to the promotion of independence and quality of life for people with epilepsy and their families, through support services, information, advocacy, and public awareness.
https://www.canadianepilepsyalliance.org/
