Trainee Paper Spotlight: Ruizhi (Vince) Duan, MS

Ruizhi (Vince) Duan, MS

Ruizhi (Vince) Duan, MS
Ruizhi (Vince) Duan, MS

Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability

Position: Ph.D. Candidate in Genetics and Genomics Program, Lupski Lab, Baylor College of Medicine

ASHG: Can you describe the type of research that has your primary focus?

Ruizhi: My research explores the etiology of human developmental malformation and rare Mendelian diseases via large-scale family-based multimodal genome analyses. I aim to uncover novel disease-causing variants and mutational mechanisms in rare undiagnosed conditions, which could provide new insights into developmental genomics.

ASHG: Throughout your life, what have been some of the biggest career goals that you have wanted to accomplish?

Ruizhi: Currently, I am on my way to becoming a laboratory geneticist and prepare running a lab in diagnostic or industrial settings in the future. My long-term goal is “solve the unsolved”, promoting awareness and therapeutical opportunities about genetic diseases, especially in underdeveloped societies.

ASHG: What are some of the reasons you chose to study genetics instead of anything else?

Ruizhi: As a student, I am always curious about how some tiny pieces of changes in DNA could significantly influence human development, while on the opposite, many large alterations produce no detrimental impact. I am grateful that my training fulfills my curiosity and allows me to work closely with patients, scientists, and clinicians globally to find an answer.

ASHG: What are three words that you would use to describe yourself?

 Ruizhi: Pragmatic, curious, observant

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