Identifying novel genetic variants associated with inherited retinal disease | Internship case study

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Identifying novel genetic variants associated with inherited retinal disease | Internship case study

Student Study
May 21, 2025
3
 min read

For Master of Genomics and Health student Jack Cooper, an internship with the Ocular Genomics Hub provided a rare opportunity to apply his academic knowledge to real-world challenges. Jack, who is in his final year at the University of Melbourne, joined the internship through the TAGC with the aim of exploring how genomic data could improve diagnosis and treatment options for patients with rare eye diseases.

“I’ve always had a passion for human genomics and its potential to transform lives,” says Jack. “Despite completing many modules on genomics, I hadn’t yet had the chance to apply those skills in a real-world environment. That’s why I was so excited to be part of this program.”

Jack’s internship focused on identifying novel genetic variants associated with inherited retinal diseases (IRDs) and interpreting their functional significance. This included contributing to the creation of curated variant databases and assisting with the preparation of documentation and curation reports—some of which were ultimately used by clinicians to guide patient care.

“One of the most exciting moments was knowing that my curations were being sent to clinicians and could potentially help provide answers for patients,” Jack reflects. “It really made me appreciate the impact of this work.”

Jack worked alongside students from diverse academic disciplines to form a SCOUT – Students Consulting on University Translation - team. Other students had a background in Biotechnology and Commerce, which encouraged interdisciplinary thinking. “Working in a multidisciplinary team pushed me to consider different perspectives,” he says. “It broadened my understanding, especially around financial implications and the grant application process—areas I hadn’t explored before.”

He also highlighted the importance of stakeholder engagement as a major learning outcome. “Communicating complex scientific information to audiences with different levels of expertise was a challenge, but an important one,” Jack explains. “It taught me to adapt my communication style and consider factors beyond the science, like deadlines, budgets, and relationships.”

Looking ahead, Jack is enthusiastic about pursuing a career in variant curation, potentially through a PhD in ocular genomics. “This internship gave me real insight into working in genomics,” he says. “I’ve gained confidence in my skills, and I now feel better prepared to take the next steps in my career.”

For students considering a similar path, Jack has one piece of advice: “a TAGC internship is an incredible opportunity. You’ll grow professionally, build valuable networks, and make a real-world impact—all in a supportive and inspiring environment.”

Read more about the project: https://www.tagcaustralia.com/projects/ocular-genomics-hub

Genomics-driven healthcare is in the process of revolutionising how biomedical science diagnoses, treats, cures and prevents disease around the world.