The advantages of rare disease biobanking: A localised source of genetic knowledge to benefit the South African rare disease community and related stakeholders worldwide
DOI:
https://doi.org/10.7196/SAMJ.2023.v113i12.1507Keywords:
biobank, rare disease, inborn metabolic diseaseAbstract
-
References
Garcia M, Downs J, Russell A, Wang W. Impact of biobanks on research outcomes in rare diseases:
A systematic review. Orphanet J Rare Dis 2018;13(1):202.
Krause A, Seymour H, Ramsey M. Common and founder mutations for monogenic traits in sub-
Saharan African populations. Annu Rev Genomics Hum Genet 2018;19:149-175. https://doi.
org/10.1146/annurev-genom-083117-021256
Tesi B, Boileau C, Boycott KM, Canaud G, Caulfield M, Choukair, D et al. Precision medicine in rare
diseases: What is next? J Intern Med 2023(epub ahead of print). https://doi.org/10.1111/joim.13655
Morar B, Lane AB. The molecular characterisation of Gaucher disease in South Africa. Clin Genet
;50(2):78-84.
Arendt S, Heitner R, Lane AB, Ramsay M. Glucocerebrosidase gene mutations in black South Africans
with Gaucher disease. Blood Cells Mol Dis 2009;43(1):129-133. https://doi.org/10.1016/j.bcmd.2009.02.008
Smuts I, Louw R, du Toit H, et al. An overview of a cohort of South African patients with mitochondrial
disorders. J Inherit Metab Dis 2010;33(Suppl 3):S95-S104. https://doi.org/10.1007/s10545-009-9031-8
Van der Walt EM, Smuts I, Taylor RW, et al. Characterisation of mtDNA variation in a cohort of South
African paediatric patients with mitochondrial disease. Eur J Hum Genet 2012;20(6):650-656. https://
doi.org/10.1038/ejhg.2011.262
Meldau S, de Lacy RJ, Riordan GTM, et al. Identification of a single MPV17 nonsense-associated
altered splice variant in 24 South African infants with mitochondrial neurohepatopathy. Clin Genet
;93(5):1093-1096. https://doi.org/10.1111/cge.13208
Dercksen M, Crutchley A, Honey E, et al. ALG6-CDG in South Africa: Genotype-phenotype description
of five novel patients. J Inher Metab Dis 2012;8:17-23. https://doi.org/10.1007%2F8904_2012_150
Henderson H, Leisegang F, Brown R, et al. The clinical and molecular spectrum of galactosemia in
patients from the Cape Town region of South Africa. BMC Pediatr 2002;2(1):7.
Berry GT. Classic galactosemia and clinical variant galactosemia. In: Adam MP, Mirzaa GM, Pagon
RA, et al, eds. GeneReviews. Seattle: University of Washington, 1993 - 2023. https://www.ncbi.nlm.nih.
gov/books/NBK1518/ (accessed 14 November 2023).
Van der Watt G, Owen EP, Berman P, et al. Glutaric aciduria type 1 in South Africa – high incidence of
glutaryl-CoA dehydrogenase deficiency in black South Africans. Mol Genet Metab 2010;101(2-3):178-
https://doi.org/10.1016/j.ymgme.2010.07.018
Dercksen M, Duran M, Ijlst MLJ, et al. Clinical variability of isovaleric acidemia in a genetically
homogeneous population. J Inher Metab Dis 2012;25(6):1021-1029. https://doi.org/10.1007/s10545-
-9457-2
Kesselheim AS, McGraw S, Thompson L, et al. Development and use of new therapeutics for rare
diseases: Views from patients, caregivers, and advocates. Patient 2014;8(1):75-84. https://doi.
org/10.1007/s40271-014-0096-6
Fermaglich LJ, Miller KL. A comprehensive study of the rare diseases and conditions targeted by
orphan drug designations and approvals over the forty years of the Orphan Drug Act. Orphanet J
Rare Dis 2023;18(1):163.
Sudlow C, Gallacher J, Allen N, et al. UK biobank: An open access resource for identifying the causes
of a wide range of complex diseases of middle and old age. PLoS Med 2015;12(3):e1001779. https://doi.
org/10.1371/journal.pmed.1001779
Mora M, Angelini C, Bignami F, et al. The EuroBioBank Network: 10 years of hands-on experience
of collaborative, transnational biobanking for rare diseases. Eur J Hum Genet 2015;23(9):1116-1123.
https://doi.org/10.1038%2Fejhg.2014.272
Malnar M, Hecimovic S, Mattsson N, Zetterberg H. Bidirectional links between Alzheimer’s disease
and Niemann-Pick type C disease. Neurobiol Dis 2014;72(A):37-47. https://doi.org/10.1016/j.
nbd.2014.05.033
Hendriksz CJ, Anheim M, Bauer P, et al. The hidden Niemann-Pick type C patient: Clinical niches for
a rare inherited metabolic disease. Curr Med Res Opin 2017;33(5):877-890. https://doi.org/10.1080/0
2017.1294054
Woidy M, Muntau AC, Gersting SW. Inborn errors of metabolism and the human interactome: a
systems medicine approach. J Inherit Metab Dis 2018;41(3):285-296. https://doi.org/10.1007/s10545-
-0140-0
Herbert AS, Davidson C, Kuehne AI, et al. Niemann-Pick C1 is essential for Ebolavirus replication and
pathogenesis in vivo. MBio 2015;6(3):e00565-15.
Hoenen T, Groseth A, Falzarano D, et al. Ebola virus: Unravelling pathogenesis to combat a deadly
disease. Trends Mol Med 2006;12(5):206-215. https://doi.org/10.1016/j.molmed.2006.03.006
Abifadel M, Varret M, Rabès JP, et al. Mutations in PCSK9 cause autosomal dominant
hypercholesterolemia. Nature Genetics 2003;34(2):154-156. https://doi.org/10.1038/ng1161
Wang Y, Liu Z-P. PCSK9 inhibitors: Novel therapeutic strategies for lowering LDL cholesterol. Mini
Rev Med Chem 2019;19(2):165-176. https://doi.org/10.2174/1389557518666180423111442
Bracco S, Calicioglu O, Gomez San Juan M, et al. Assessing the contribution of bioeconomy to the total
economy: A review of national frameworks. Sustainability 2018;10(6):1698. https://doi.org/10.3390/
su10061698
Kakkis ED, O’Donovan M, Cox G, et al. Recommendations for the development of rare disease drugs
using the accelerated approval pathway and for qualifying biomarkers as primary endpoints. Orphanet
J Rare Dis 2015;10(10):16. https://doi.org/10.1186/s13023-014-0195-4
Pariser AR, Gahl WA. Important role of translational science in rare disease innovation, discovery, and
drug development. J Gen Intern Med 2014;29(3):804-807. https://doi.org/10.1007/s11606-014-2881-2
Downloads
Published
Issue
Section
License
Copyright (c) 2023 M Dercksen, E H Conradie, C J Hendriksz, H Malherbe, B C Vorster
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
Licensing Information
The SAMJ is published under an Attribution-Non Commercial International Creative Commons Attribution (CC-BY-NC 4.0) License. Under this license, authors agree to make articles available to users, without permission or fees, for any lawful, non-commercial purpose. Users may read, copy, or re-use published content as long as the author and original place of publication are properly cited.
Exceptions to this license model is allowed for UKRI and research funded by organisations requiring that research be published open-access without embargo, under a CC-BY licence. As per the journals archiving policy, authors are permitted to self-archive the author-accepted manuscript (AAM) in a repository.
Publishing Rights
Authors grant the Publisher the exclusive right to publish, display, reproduce and/or distribute the Work in print and electronic format and in any medium known or hereafter developed, including for commercial use. The Author also agrees that the Publisher may retain in print or electronic format more than one copy of the Work for the purpose of preservation, security and back-up.
