Genetic diseases are conditions that result from changes or mutations in an individual's DNA or genetic material.
These changes can affect the normal functioning of genes and lead to a wide range of health problems, including physical, developmental and cognitive issues. Genetic diseases can be inherited from parents or occur spontaneously due to genetic mutations.10 It is estimated there are more than 10,000 known rare diseases that exist globally, with 80 percent of these having identified genetic origins.11 Less than 10 percent of rare diseases have an approved treatment option.12
Genetic diseases can be caused by a defect in a single gene (also termed monogenic disorders) or by mutations in multiple genes, or by damage to chromosomes resulting in changes to the structure of the chromosome.13 There are between 5,000–8,000 monogenic diseases.14 More than 4,000 monogenic mutations account for at least 80 percent of all rare diseases. These often manifest during childhood and remain largely untreatable, leading to morbidity and sometimes premature death.15 Sickle cell anemia is an example of a monogenic disorder and Down syndrome is an example of a chromosomal disorder.
- National Human Genome Research Institute (NHGRI). For Patients and Families: Genetic Disorders [online]; Updated May 18, 2018. Available at: https://www.genome.gov/For-Patients-and-Families/ Genet c-Disorders [Accessed March 25, 2023].
- Global Genes. RARE List (online).15 April 2016. Available at: https://globalgenes.org/rarelist/ [Accessed March 25, 2023].
- Pharmaceutical Research and Manufacturers of America. Scientific Innovation: Progress in Fighting Rare Diseasess. Updated: March 2023. Available at: https://phrma.org/Scientific-Innovation/ Progress-in-Fighting-Rare-Diseases. [Accessed March 25, 2023].
- National Human Genome Research Institute (NHGRI). For Patients and Families: Genetic Disorders [online]; Updated May 18, 2018. Available at: https://www.genome.gov/For-Patients-and-Families/ Genetic-Disorders [Accessed March 25, 2023].
- Prakash V, Moore M, Yáñez-Muñoz RJ. Current Progress in Therapeutic Gene Editing for Monogenic Diseases. Mol Ther. 2016;24(3):465-474. doi:10.1038/mt.2016.5.
- Condò I. Rare Monogenic Diseases: Molecular Pathophysiology and Novel Therapies. Int J Mol Sci. 2022 Jun 10;23(12):6525. doi: 10.3390/ijms23126525. PMID: 35742964; PMCID: PMC9223693.