Joshua W. Owens, MD

I am a resident completing my final year of pediatrics and medical genetics training. My initial interest in medicine originated from my father, who has worked in orthotics and prosthetics since I was born. His compassion and willingness to help those in need were evident in everything he did and inspired me to follow a similar path. I chose to specialize in pediatrics due to the joy of seeing children grow and improve. Kids consistently amaze me with their resilience, and the additional resources available for children make it easier to overcome any barriers that might prevent patients from getting the care they need.

I became interested in genetics as a freshman in college while working in a genetics lab focused on studying single genes. After my first year in medical school, I returned to a genetics lab to work on a project that looked at hundreds of genes simultaneously. These rapid scientific advances increased my interest in medical genetics. Further exposure to rare genetic disorders during medical school cemented my desire to see and care for patients through the unique lens of a medical geneticist.

Specializing in medical genetics allows me to help families make sense of complex medical problems and feel confident about the plan moving forward. While we cannot always cure a genetic disease, understanding the root cause of a patient's symptoms allows us to find ways to improve their overall care and well-being. My goal is to ensure my patients receive the best care possible while also making them feel cared for. For patients seeking answers about their complex health conditions, I seek to provide education on what they are experiencing and guide the next steps in their diagnostic odyssey. Once we have a diagnosis, I try to personalize care and build therapeutic alliances with families and other healthcare providers to ensure the right multi-disciplinary teams are addressing their current and future needs.

In addition to providing patient care, I also focus on translational research and advocacy that adds more clinical value to a genetic diagnosis or improves overall access to genetic care. My current research includes:

• Understanding genotype/phenotype relationships in Joubert syndrome and related ciliopathies
• Improving the transition from inpatient to outpatient medical genetics services
• Helping facilitate research enrollment for genetics patients

In my free time, I enjoy hiking, spending time with my dogs, playing soccer and cooking.