Faculty & Staff Insider

January 11, 2018

Saving lives with newborn screening

by Hannah Myrick

Each year since 1976, the University of Washington has acknowledged outstanding creativity and scholarship by naming a faculty member to deliver the annual University Faculty Lecture. This award honors an individual whose work has made a significant impact on their profession, on the research or performance of others, and on society as a whole.

At this year’s lecture, Michael H. Gelb, the Boris and Barbara L. Weinstein Endowed Chair in Chemistry and an adjunct professor in the Department of Biochemistry, will discuss his life-saving work on newborn screening tests. In advance of the event, the globally recognized expert on enzymes and drug development talked about his research and inspiration.

Q: What inspired you to begin researching newborn screening?

MG: When my wife was pregnant with our second child, she had an amniocentesis, a prenatal procedure that checks for possible genetic disorders and other health concerns of the baby. The nurses had tested only for Down syndrome and a few other conditions. After that, I began to wonder — what other diseases weren’t being checked for in newborns?

Around 1994, I started working with my colleagues Dr. Ronald Scott, professor of pediatrics at the UW School of Medicine, and Frank Tureček, professor of chemistry, who helped us with the technology we needed to begin our research. We determined some specific diseases we could test for and began doing so with our new technology. Now, doctors and researchers across the country and around the world are using our research to provide more comprehensive newborn screenings.

Q: How does the test work? What does it measure, and who does it affect?

MG: Traditionally, when we test newborns, we test only for diseases that have good early treatments. There are about a dozen diseases called lysosomal storage diseases that our team tests for and that are treatable.

All the diseases in this test are caused by broken enzymes, which are responsible for the breakdown of metabolites in cells. The degree to which the enzyme works determines how severe the disease is. These diseases aren’t black and white, and some conditions do not develop until a child is a teenager or an adult.

For the screening test, we place a few drops of the infant’s blood onto filter paper. Then we expose the enzymes in the blood to different molecules to measure their reactions. In general, the more molecules that are made, the better the enzymes are working.

For perspective: In Washington state, about 80,000 babies are born each year. Of these, four to five kids need treatment immediately, and 10 to 15 who don’t have the disease yet are put on alert — made aware that a disease may develop later in life.

Q: Who decides which tests are implemented in different states?

MG: While there’s no federal umbrella policy, states tend to follow the Congressional Newborn Screening Saves Lives Reauthorization Act of 2014. This act allocates funding for a committee of experts to add diseases to the list of conditions to test for during newborn screenings.

Q: Who are some major players involved in this project?

MG: I often work with foundations started by families with an affected child. I think it carries more weight if they — instead of professors or biotech companies — advocate for these improved newborn-screening procedures. These foundations are extremely active with their state representatives and legislatures.

Q: What does your future research for the project look like?

MG: The National Institutes of Health renewed our grant for another four years. I’m not sure where our future research goes, but we’re optimistic that diseases will continue to be added to the panel. As we learn more about new diseases that people can develop, we’ll revisit the technology and adjust it to test for those.

Q: Why is this project important to you?

MG: What these families go through is kind of a mess — going through the health care system, through the diseases. I can’t stress enough how horrific these diseases are for the families and the kids. I think this is the most important field I’ve ever worked in; it’s great to see these kids getting better.

Q: What do you like about working at the UW?

MG: I’ve been here a long time, so it feels like home. I like my colleagues, especially how closely our chemistry department works with UW Medicine. Also, the UW’s CoMotion is an excellent resource. It was instrumental in helping me obtain patents, partner with other organizations and develop technology.

About Michael H. Gelb
Professor Gelb is the Boris and Barbara L. Weinstein Endowed Chair in Chemistry and an adjunct professor in the Department of Biochemistry. His research on enzymes has led to the development of drugs to treat neglected diseases and the screening of newborns for genetic metabolism disorders. Join us for his University Faculty Lecture, “Newborn Screening for Treatable Genetic Diseases.”

University Faculty Lecture
Jan. 23, 2018
7:30 p.m. Lecture in Kane Hall, Room 130
8:30 p.m. Reception in Kane Hall, Walker-Ames Room