What do you do?
I study the rare pathogenic variant known as 2p16.3 Deletion. This means that the section of our DNA containing the gene “Neurexin 1” is missing. Neurexin 1 works with other brain structures to correctly transfer information across neurons and therefore is so important for brain function. This variant has been associated with different disorders that are common in our society, such as Autism, Schizophrenia, Developmental Delay, ADHD and Intellectual Disability to name a few. I am studying the 2p16.3 Deletion to understand its characteristics to provide better research to people with the variant.
Why did you choose this field?
I attended a Genetic Placement as part of my Psychology Undergraduate course and found it surprisingly interesting and really rewarding. Pathogenic Variants are still not widely known about, and so I wanted to be a part of the up and coming research. There is a common misconception that research is an unsociable job, but I have met so many wonderful families- chatting to them and being a part of their family for a day really is my favourite part of the job. My Mum has always encouraged me to do something meaningful with my life and I believe this is exactly what she had hoped for me.
What do you look at and think, "I wish younger me would have known this was possible"?
I wish younger me would have known that it would be possible to be working within an amazing research cohort, conducting my own genetic research at 21 years old.
Why do you love working in STEM?
I love discovering something new everyday and knowing that one day my contribution to genetic research may help someone who needs it.
Best advice for next generation?
Don’t be daunted by the concept of Science, Technology, Engineering or Mathematics. I struggled with these kind of subjects in school but I have found an avenue within them that works for me. Take every opportunity you’re given and work hard.
Inspo quote / fun fact / role model
I make my own ice cream by hand, and it’s better than Ben and Jerry’s!