Publications by authors named "Richard R Yang"
Article Synopsis
- Patient-specific induced pluripotent stem cell-derived (iPSC-derived) cell lines offer tailored therapies, enhancing treatment precision for conditions like Bietti crystalline dystrophy (BCD), a rare blinding disease affecting around 67,000 people globally.
- The study utilized iPSC-derived retinal pigment epithelium (iRPE) cells from BCD patients to assess the effectiveness of adeno-associated virus (AAV)-mediated gene therapy, finding that this therapy can significantly reduce blue light-induced cell death in affected cells.
- Additionally, the researchers discovered variability in cellular phenotypes linked to different genetic mutations, highlighting the importance of personalized treatment approaches in advancing therapies for BCD and potentially other diseases.
Conclusions: Our analysis estimates BCD prevalence and revealed large differences among various populations. Moreover, it highlights advantages and limitations of the gnomAD database.
Methods: CYP4V2 gnomAD data and reported mutations were used to calculate carrier frequency of each variant.
A patient advocating for transparent science in rare disease research.
Orphanet J Rare Dis
January 2023
300 million people live with at least one of 6,000 rare diseases worldwide. However, rare disease research is not always reviewed with scrutiny, making it susceptible to what the author refers to as nontransparent science. Nontransparent science can obscure animal model flaws, misguide medicine regulators and drug developers, delay or frustrate orphan drug development, or waste limited resources for rare disease research.
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