The future of Bruck Syndrome management: implementation of existing cell- and gene-targeted treatment options

Hulzebosch, Daan (2023) The future of Bruck Syndrome management: implementation of existing cell- and gene-targeted treatment options. Bachelor's Thesis, Biology.

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Abstract

Bruck Syndrome (BRKS) is a rare autosomal recessive genetic disorder that affects bone development starting at infancy or early childhood. Mutations in the FKBP10 and PLOD2 genes result in the creation of abnormal bone formation. The current treatment is a combination of alleviation of symptoms and increase of bone formation by biphosphonates. These treatments are falling short, therefore, implementation of new treatments are needed to tackle the problem of current treatments having too little impact. Existing gene- and cell targeted treatment options have been proven to have therapeutic value in various diseases, including rare genetic disorders. Stem cells transplantation, CRISPR/Cas9 and siRNA editing can be done in utero or postnatally, which provides a right functioning FKBP10 gene. CRISPR/Cas9 is potentially able to knockout a mutated FKBP10 gene, and knock-in a correctly functioning gene. siRNA is able to degrade the target sequence FKBP10, to stop the production produced by the mutated gene. The main limitation is the lack of in vivo studies on all fronts, and the main challenges of implementing these techniques are transfection of designed RNA into the nucleus and the risk of using toxic immunogenic components. In conclusion, although these techniques remain highly experimental and have complicated challenges, current evidence shows enormous potential for future implementation of these techniques into the clinic.

Item Type:	Thesis (Bachelor's Thesis)
Supervisor name:	Bank, R.A.
Degree programme:	Biology
Thesis type:	Bachelor's Thesis
Language:	English
Date Deposited:	28 Apr 2023 11:38
Last Modified:	28 Apr 2023 11:38
URI:	https://fse.studenttheses.ub.rug.nl/id/eprint/29685

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