Please use this identifier to cite or link to this item:
https://www.um.edu.mt/library/oar/handle/123456789/66987
Title: | Cracking the code of hereditary diseases |
Authors: | Briffa, Mark |
Keywords: | Genetic disorders -- Case studies |
Issue Date: | 2020 |
Publisher: | University of Malta |
Citation: | Briffa, M. (2020). Cracking the code of hereditary diseases. THINK Magazine, 31, 13. |
Abstract: | Lack of clarity amplifies the challenge to come to terms with a disease or disorder. During my research into genetic diseases, I met a Maltese family seeking to understand their condition. Several family members had been diagnosed with hereditary ataxia, a disease that results in some loss of control of normal bodily movements. They had no information about the variation in their DNA that caused the disease. Ataxia can result in loss of balance and slurring of speech, amongst many other signs and symptoms. It is most commonly inherited from one’s parents. Researchers have identified many different types of ataxia, all caused by different genetic variants in the person’s DNA. Identifying the exact change in DNA is crucial for mapping out a treatment plan. |
URI: | https://www.um.edu.mt/library/oar/handle/123456789/66987 |
Appears in Collections: | Think Magazine, Issue 31 Think Magazine, Issue 31 |
Files in This Item:
File | Description | Size | Format | |
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Cracking_the_code_of_hereditary_diseases.pdf | 252.84 kB | Adobe PDF | View/Open |
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