Health Science Reviews

By Jaime Altshuler

When I began my honours journey in Human Genetics at UCT, I knew this year was going to be a challenge.  What I didn’t realise was how much I would fall in love with genetics all over again.  I also didn’t expect to grow as much as I have, not only in my skills and abilities, but as a critical thinker and aspiring researcher, and we’re only halfway through the year.

I have absolutely loved the coursework, and have genuinely enjoyed the content of every module.  Each one introduced me to an aspect of my degree that I had never explored in this way before, and it sparked a renewed passion.  Whether it was learning about genetic medicine, exploring population genetics or understanding the workings of pharmacogenomics, I found myself constantly intrigued and engaged.  Even the technical aspects of the Genomic Data module, working with R and Galaxy, became something I looked forward to.  A particular highlight was Forensic Genetics, a module I had never encountered before, but quickly came to love.  It opened my eyes to the powerful application of genetics in justice and identification.  These experiences not only expanded my academic knowledge, but also deepened my curiosity about how genetics is used to solve real-world health problems.

What has stood out to me the most this year is how real and tangible this degree feels.  The topics we cover are not abstract theories, they are deeply connected to health, justice, ancestry and society.  Genetics is woven into everything that makes us who we are, be it our health or characteristics.  I’ve come to love how applicable and meaningful the content is.  Whether it’s understanding how a single variant can change a treatment plan, or how genetic diversity shapes disease risk, I feel like I’m part of something that can really make a difference.

Another highlight of this year has been the Human Genetics community itself.  It truly feels like a little family; a supportive and collaborative group of people, who are genuinely invested in each other’s success.  From our lecturers to our supervisors and classmates, there’s a shared sense that everyone genuinely wants the best for each other, and that kind of environment makes a huge difference in such a demanding year.

At the same time, this year has not been without its challenges.  The volume of work and depth of understanding expected made assessments particularly stressful, but it also taught me resilience, time management and the importance of reaching out and utilising the support structures and resources available to us.

The part I am looking forward to the most, however, is my research project, where I am investigating the prevalence of three NPHS2 gene variants (c.686G>A, c.725C>T and c.413G>A) in African paediatric patients with nephrotic syndrome.  This project combines my interest in population genetics, pharmacogenomics and real-world impact.  It’s been fascinating to explore the gaps in current data and to consider how my work might inform future diagnostics or help shape treatment strategies for underrepresented groups.  I’m especially excited to finally begin the lab work phase of my research, where I’ll get to translate everything I have learnt so far in a hands-on, meaningful way.

While the year has been demanding, it has also been incredibly fulfilling.  It’s confirmed that I’m on the right path.  The combination of theory, data, clinical relevance and research has given me a well-rounded, meaningful experience that has solidified my passion for genetics and given me confidence to keep learning, growing and contributing to research that matters.