Research Scientist
New York State Department of Health Newborn Screening Program
What first drew you to Krabbe disease—and why have you stayed?
My first day on Job, I was presented with a research paper by Dr. Michael Gelb that provided a method to screen for Krabbe disease and was told the governor wanted us to implement screening for Krabbe disease (George Pataki). I stayed because it was my job and I wanted to make the screening be as good as possible.
Can you share a moment in your research that really stuck with you emotionally?
Meeting one of the first boys (and his mom) that we detected with Krabbe disease; he received a cord transplant and is in school and both him and his mom are happy in life.
What gives you the most hope when you think about the future of Krabbe disease?
That screening for Krabbe disease is on the federally recommended uniform screening panel and likelihood of gene therapyA type of therapy that offers hope and promise for a cure for many genetic disorders. A working copy of the gene replaces the non-working copy of the gene. Gene therapy is at the forefront of many.
How do patient families influence or motivate your work?
They have given me the motivation to continually improve all aspects of screening, from the test, to reporting of the disease.
