Cracking the code of hereditary diseases

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.