Xeroderma Pigmentosum

Summary

This project studies a rare genetic disorder characterized by extreme sensitivity to ultraviolet (UV) radiation due to defects in the nucleotide excision repair (NER) process. This autosomal recessive disorder affects individuals' ability to repair DNA damage caused by UV radiation, leading to severe skin, neurological, and ophthalmological issues, often resulting in early death. The disorder is linked to mutations in one of several genes, including XPA, XPB, XPC, XPD, XPE, XPF, XPG, and XPV, each contributing differently to the disease's manifestation. Patients with Xeroderma Pigmentosum (XP) face a dramatically increased risk of developing skin cancers, with a 10,000-fold higher risk for non-melanoma skin cancer and a 2,000-fold higher risk for malignant melanoma compared to the general population. Diagnosis is typically based on clinical symptoms and confirmed through genetic testing. While there is currently no cure for XP, management involves rigorous sun avoidance, protective measures, and treatments such as vitamin D supplementation, surgery, and other supportive therapies to mitigate the disorder's impact and extend life expectancy.

DNA strand is repaired and clean for another replication and transcription. (Figure representation created by the author: Ayanat Nazarova)

Video Presentation

Impact Statement

I am Ayanat Nazarova, a high school student at BIL for girls in Aktobe, Kazakhstan. Being introduced to insights into Genetics and Genomics, and their biomedical aspects, I was able to not only figure out where and how to start writing the scientific work on the topic that aroused curiosity in me but also delve deeper into that topic. I explored Xeroderma Pigmentosum - a rare autosomal recessive disorder that leads to discomfort in everyday life, various kinds of diseases, and worst - premature death. Specifically, my project provides general information about XP, and the genes responsible for its appearance. In order to discover more about this disease I learned how to navigate through NCBI, PubMed, CDC, and UCSC Genome thanks to helpful and encouraging instructors. Now, I have even more desire to write scientific report with more thoroughness.

Report White Paper

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_By: Ayanat Nazarova_

The opinions expressed here are the views of the writer and do not necessarily reflect the views and opinions of Elio Academy.

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