Topic: Since the year 2002, considerable progress has been made in the area of human health and medicine. What three pieces of research, reported in the last ten years, that are based on or related to evolutionary theory or genetic studies and mechanisms in medicine, seem most important to you for their direct connection to you, your relatives, and your (future) descendants, and why? Begin by thinking about medical challenges that ‘run in your family,’ and therefore are likely to have a genetic component. Use these challenges as the starting point for your research.
Over the last 10 years, there have been many research studies based on or related to evolutionary theory, genetic studies and mechanisms in medicine. The three studies that are relevant to my family are Asperger’s syndrome, Asthma and Alzheimer’s disease.
Asperger syndrome is an autism spectrum disorder (ASD) that is characterized by significant difficulties in social interaction, alongside restrictive, repetitive and stereotyped patterns of behaviour (Asperger, 2013). The aetiology behind ASD’s, including Asperger syndrome, is not known. Current studies point to brain abnormalities that occur during fetal development (Asperger, 2013). Scientists have proposed that there are genetic and environmental components to Asperger syndrome and other ASDs because of their familial linkage. A specific gene for Asperger syndrome has never been identified (Asperger, 2013). Most recent research indicates the likelihood of a common group of genes with variations or deletions, in combination with yet unidentified environmental factors (Asperger, 2013). This determines the severity and symptoms for each individual with Asperger syndrome. My brother, Ravi, was diagnosed with Asperger’s syndrome when he was 5 years old. My mother had always known that he was different. He was not like any of her other 5 children; he never made any noise when he was born. He would just look around. Growing up, he was sensitive to touch from people outside the family, showed little to no emotion and did not get along well with kids his own age. He had a lot of trouble communicating with other kids since he would obsess over one topic and would throw a fit if they talked about anything else. He was a very intelligent kid who could read by the age of 3 and could hold intelligent conversations with adults. I remember our family trip to Disneyland on his 4th birthday; we were all so excited jumping and singing on the car ride over, but Ravi was just sitting down and reading his book about Cars. My mom had always thought he was just a quirky kid but she was not aware that he actually had a disorder. My eldest sister at that time was in her first year of medical school; as she was sitting in class one day listening to her professor talk about Asperger’s syndrome and its symptoms, she couldn’t help but think that maybe that was what Ravi had. She took Ravi to a pediatrician the following week and had him tested. The diagnosis of Asperger syndrome and all other ASDs are done as part of a two-stage process. The first stage begins with a developmental screening with a pediatrician and the second stage is a comprehensive team evaluation. This team generally includes a psychologist, neurologist, psychiatrist, speech therapist and additional professionals who have expertise in diagnosing children with AS. The comprehensive evaluation includes neurological and genetic assessment, with an in-depth cognitive and language test to establish IQ and evaluate other strengths and weakness. The physician will look at the results and combine them with the child’s developmental history and current signs to make a diagnosis. In Ravi’s case, he was diagnosed with mild Asperger’s syndrome. The doctor recommended some occupational and psychological therapy to teach him how to act and communicate in social settings.
Asthma is another condition that runs in my family. There is a long history of