ArticleAmerican journal of human genetics2014
FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project.
Article in American journal of human genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 137 papers.
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Who cites it
137 citing papers in PubMed, 249 citations in OpenAlex.
- The Korean Genetic Diagnosis Program for Rare Disease Phase II: outcomes of a 6-year national project.European journal of human genetics : EJHG · 2023Trial
- Novel biallelic CDK9 variants are associated with retinal dystrophy without CHARGE-like malformation syndrome.Journal of human genetics · 2026Article
- Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases.Genetics in medicine open · 2026Article
- Development on the Proficiency of Diagnosis and Clinical Care for Rare Diseases in Young Physicians in China.Health care science · 2025Article
- Prevalence of Individuals With Multiple Diagnosed Genetic Diseases in the Undiagnosed Diseases Network.American journal of medical genetics. Part A · 2025Article
- Leveraging clinical intuition to improve accuracy of phenotype-driven prioritization.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases.NPJ genomic medicine · 2024Article
- Considerations for reporting variants in novel candidate genes identified during clinical genomic testing.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless.Orphanet journal of rare diseases · 2024Article
- Considerations for reporting variants in novel candidate genes identified during clinical genomic testing.bioRxiv : the preprint server for biology · 2024Article
- International Undiagnosed Diseases Programs (UDPs): components and outcomes.Orphanet journal of rare diseases · 2023Review
- Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia.Nature communications · 2023Article
- Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care.The Journal of pediatrics · 2023Article
- BiallelicNeurology. Genetics · 2023Article
- What is the awareness of rare diseases among medical students? A survey in Bulgaria.Orphanet journal of rare diseases · 2023Article
- Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.The New England journal of medicine · 2023Article
- Novel Homozygous Variant inNeurology. Genetics · 2023Article
- Needs of informal caregivers of people with a rare disease: a rapid review of the literature.BMJ open · 2022Review
- Care4Rare Canada: Outcomes from a decade of network science for rare disease gene discovery.American journal of human genetics · 2022Review
- Whole-genome sequencing identifies new candidate genes for nonobstructive azoospermia.Andrology · 2022Article
77 more citing papers are in PubMed but not listed here.
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Authors and funding
24 authors at 13 institutions in 1 country.
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Abstract
Inherited monogenic disease has an enormous impact on the well-being of children and their families. Over half of the children living with one of these conditions are without a molecular diagnosis because of the rarity of the disease, the marked clinical heterogeneity, and the reality that there are thousands of rare diseases for which causative mutations have yet to be identified. It is in this context that in 2010 a Canadian consortium was formed to rapidly identify mutations causing a wide spectrum of pediatric-onset rare diseases by using whole-exome sequencing. The FORGE (Finding of Rare Disease Genes) Canada Consortium brought together clinicians and scientists from 21 genetics centers and three science and technology innovation centers from across Canada. From nation-wide requests for proposals, 264 disorders were selected for study from the 371 submitted; disease-causing variants (including in 67 genes not previously associated with human disease; 41 of these have been genetically or functionally validated, and 26 are currently under study) were identified for 146 disorders over a 2-year period. Here, we present our experience with four strategies employed for gene discovery and discuss FORGE's impact in a number of realms, from clinical diagnostics to the broadening of the phenotypic spectrum of many diseases to the biological insight gained into both disease states and normal human development. Lastly, on the basis of this experience, we discuss the way forward for rare-disease genetic discovery both in Canada and internationally.
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