Making a positive impact on other people’s lives or society, in general, is one of the reasons why I chose to study genetics and medicine. Volunteering has helped me look beyond the stresses of high school and has given me the satisfaction of making a positive change in society. It has given me a chance to socially interact with others especially during this time of the COVID pandemic while touching the lives of others to make an impact in the community.
One organization that I volunteer at is the Special Olympics. Special Olympics holds sports and related events for people with intellectual disabilities. These events provide the special athletes a venue to take part in different sports activities like basketball, volleyball, hockey, soccer, bowling, etc. The Unified Champions Schools lets athletes with and without intellectual disabilities take part in sports together. This builds an environment of inclusion with the communities.
As I spent time with the athletes, I wondered about the science behind their disabilities and if there were any genetic basis to it. One study of autosomal recessive intellectual disability noted that 75% of the study participants with a disability gene had random mutations that appeared during fetal development (ärvelä, I., Määttä, T., Acharya, A. et al., 2021 ). Not many were inherited from their parents. The study goes on to state that around 2500 genes play a role in intellectual disabilities, out of which only half are known. This made me think about using bioinformatics tools to identify other genes using datasets and study related pathways. I hope to do more reading on this topic and write about it in my future blog posts!
Please do connect with Special Olympics New Jersey at their volunteering website https://www.sonj.org/volunteer or donate here. You can read more about Special Olympics New Jersey at their website or at their parent organization’s website.
Järvelä, I., Määttä, T., Acharya, A. et al. Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland. Hum Genet 140, 1011–1029 (2021). https://doi.org/10.1007/s00439-021-02268-1