Solving Puzzles in Genetic Research

Rare diseases cause physical and intellectual disabilities that can devastate the lives of children and their families. With nearly 10,000 rare diseases affecting 10% of the world’s population, these diseases aren’t as rare as they seem. Many have no cure. For 25 years, I have dedicated my career at Children’s National to finding answers through genetic medicine.

Why should we care about genetic medicine research? From a human perspective, it’s about the desire to help others. From a scientific perspective, these investigations yield important data about rare diseases and also help us understand common health issues.

For example, my research into the urea cycle (how the body eliminates toxic ammonia) and how to protect children’s brains from ammonia toxicity has led to a better understanding of other conditions that cause liver damage and brain injury in children.

Genetic research leads to better interventions and treatments to improve and extend patients’ lives — faster and sooner. Our cells work like a large orchestra. Genes and gene products are instruments; some more important genes are conductors. If a gene is out of sync or not performing its job well, the “music” doesn’t sound right.

It’s exhilarating when I’m the first to discover something or make an important connection in how genes work. No one else knows yet, and I have good news to share.

This drives my work to advance science, which helps our patients and families feel better.