A report by Dr. Alisdair McNeill in the European Journal of Human Genetics discusses the current research being done on rare diseases. McNeill gives a brief overview of the current rare diseases being researched and what the research has found. He then moves onto discussing genome sequencing and how genetic predisposition is an important part of pediatric cancer and how analyzing a potential parent's genome can help predict if their child will have pediatric cancer.
McNeill then discusses the need for an adequate genetic counsellor workforce and how the increase in research in genetics demands an increase in the amount of genetic services offered to people. McNeill gives the example of Korea's nationwide genomics diagnosis program as an example of what needs to be done in order to increase diagnosis rates of rare diseases.
McNeill, A. Expanding what we know about rare genetic diseases. Eur J Hum Genet 31, 1091–1092 (2023). https://doi.org/10.1038/s41431-023-01453-2
Review on a rare disease I have:
Weiss KH, Schilsky M. Wilson Disease. 1999 Oct 22 [Updated 2023 Jan 12]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1512/