At Star Gala 2019, we gathered to benefit the life-saving and groundbreaking genomic medicine program at Children’s Minnesota. Recently, we asked Dr. Joseph Lillegard, director of research and open fetal surgery, a few questions about his dedicated work in genomics. Read more about his work below:
1. Describe your work in genomics at a high level.
We are advancing gene therapy research to treat, and possibly cure, a group of serious and often deadly diseases called inborn errors of metabolism of the liver. These are genetic conditions that render a patient unable to break down essential nutrients in the liver. There are many of these disorders affecting 1:1200 kids. We are currently working on two diseases: Hereditary Tyrosinemia Type I and Phenylketonuria.
2. How will your work change health care for kids?
The effect of gene therapy and gene correction on health care will be significant and permanent; we see it as similar to the discovery of antibiotics and the use of vaccinations. This research will, we believe, lead to changes in care that will save children’s lives maybe even before birth. When diseases are cured at the genetic level, the risk of long-term complications from the disease are eliminated and the financial and emotional cost of care drops dramatically.
We are in the process of submitting our work to the FDA for review to begin an early phase II trial which would be the first clinical gene therapy trial conducted at Children’s Minnesota. Looking ahead, we think our work in this area could have an impact on all kinds of genetic disorders, not just inborn errors of metabolism of the liver
3. Why are you passionate about this area of innovation?
I began research on inborn errors of metabolism of the liver 13 years ago. It’s easy to be passionate about this field of study and gene therapy because of its tremendous ability to positively impact patient lives and provide cures to some potentially fatal conditions. As of right now, 90% of patients with inborn errors of metabolism die before adulthood. The current treatments are largely palliative and expensive. Patients suffer from the effects of their disease, including liver failure, cancer and other severe problems. We can change that and make these therapies available to all families, regardless of where they live and the resources they have. All kids should have the best opportunity to live a full and healthy life.
Alexandra Rothstein