The list of rare diseases (i.e., those afflicting approximately 3.5% - 5.9% of the world population ) comprises up to 7,000 disorders that vary in origin, symptoms, and course. Around three-fourths of all rare diseases are genetic; the rest may result from viral or bacterial infections, degenerative or proliferative processes, not to mention a range of rare illnesses with an unknown cause. Various allergies, autoimmune conditions, and infrequent types of cancer provide some examples of rare diseases. Interestingly, such widely known diseases as malaria and tuberculosis often enter into the rare disease databases: although prevalent in some areas, they appear to be uncommon in other regions, hence considered as rare at the global level.
Due to the low prevalence and broad diversity of rare diseases, adequate diagnosis and treatment constitute a challenging task. Non-specific symptoms of many rare health conditions may bring about misdiagnosis. A small number of people affected by one particular rare disease hinders the targeted drug development’s economic interest. The most promising way of resolving these issues involves the launch of numerous international scientific and social programs, which connect patients, clinicians, and researchers from all over the world. To promote such initiatives, raise public awareness of rare diseases, and support people suffering from rare illnesses, EURORDIS announces Rare Disease Day annually on the last day of February. This year, the 14th campaign takes place on February 28th, with the central message: “Rare is many. Rare is strong. Rare is proud”.
The situation with the treatment of rare diseases is unfortunate: despite the acute need, only a small fraction of known diseases are treated with approved medications [2-4]. The existing demand creates a considerable challenge for drug discovery projects and requires adopting multiple therapeutic approaches and strategies [4,5], such as small-molecule screening technology, antibody therapies, protein replacement, oligonucleotides, gene and cell therapies, and drug and target repurposing. With this variety of options, continuous progress in combating rare diseases can be expected. For instance, recent advances in the treatment of one of the most prevalent rare diseases – multiple sclerosis – are based either on small-molecule compounds that cross the blood-brain barrier or on the monoclonal antibodies approach. As a matter of fact, existing effective therapies aim at curbing acute attacks and alleviating symptoms, whereas the cure for progressive multiple sclerosis remains a challenge [6,7].
At the same time, among recent achievements, the use of small-molecule drugs in combination therapy of different mutations in patients with cystic fibrosis [8,9] should be mentioned. In addition, the cell therapies approach has shown encouraging results in the treatment of rare cancers .
Willing to assist in further advances of drug discovery for rare diseases, LC offers the following extensive set of targeted screening libraries related to:
- Anti-inflammatory Library
- Ion Channel Focused Library (Fingerprint Similarity)
- Ion Channel Targeted Library (Pharmacophore Based)
Rare types of cancer
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Furthermore, custom compound selection based on specific parameters can be performed, with the most convenient terms and competitive pricing provided.
- Nguengang Wakap, S., Lambert, D.M., Olry, A. et al. (2020). Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet 28, 165–173.
- Swinney D.C, Xia S. (2014). The discovery of medicines for rare diseases. Future Med Chem. 6(9): 987-1002. doi:10.4155/fmc.14.65
- Kaufmann, P., Pariser, A.R. & Austin, C. (2018) From scientific discovery to treatments for rare diseases – the view from the National Center for Advancing Translational Sciences – Office of Rare Diseases Research. Orphanet J Rare Dis 13, 196. doi:10.1186/s13023-018-0936-x
- Tambuyzer, E., Vandendriessche, B., Austin, C.P. et al. (2020). Therapies for rare diseases: therapeutic modalities, progress, and challenges ahead. Nat Rev Drug Discov 19, 93–111.
- Zhao, M., & Wei, D.-Q. (2017). Rare Diseases: Drug Discovery and Informatics Resource. Interdisciplinary Sciences: Computational Life Sciences, 10(1), 195–204. doi:10.1007/s12539-017-0270-3
- Hauser, S. L., & Cree, B. A. C. (2020). Treatment of Multiple Sclerosis: A Review. The American Journal of Medicine. doi:10.1016/j.amjmed.2020.05.049
- Sorensen, P. S.; Fox, R. J.b; Comi, G. (2020). The window of opportunity for treatment of progressive multiple sclerosis, Current Opinion in Neurology 33(3): 262-270. DOI: 10.1097/WCO.0000000000000811
- Keating, D. et al. (2018). VX-445-tezacaftor-ivacaftor in patients with cystic fibrosis and one or two Phe508del alleles. N. Engl. J. Med. 379, 1612–1620. DOI: 10.1056/NEJMoa1807120
- Strug, L. J. et al. (2018). Recent advances in developing therapeutics for cystic fibrosis. Hum. Mol. Genet. 27(R2), R173–R186. DOI: 10.1093/hmg/ddy188
- Tang, J., Hubbard-Lucey, V. M., Pearce, L., O’Donnell-Tormey, J., & Shalabi, A. (2018). The global landscape of cancer cell therapy. Nature Reviews Drug Discovery, 17(7), 465–466. doi:10.1038/nrd.2018.74