INTERVIEW

Randi Hagerman

Interviewed by Trina Wood

Posted November 9, 2001 · Issue 114

Background

Biography
As the new director of the MIND (Medical Investigation of Neurodevelopmental Disorders) Institute at the University of California at Davis, Randi Hagerman has found her place on a team that tackles both scientific and clinical mysteries of the mind. Trained as a pediatrician, Hagerman is an internationally recognized expert in fragile X syndrome - the most common inherited cause of mental retardation. Her research focuses on correlating an individual's genotype with the manifested phenotype. She also has a strong interest in autism and the association between autism and fragile X syndrome. Her most recent book, Neurodevelopmental Disorders: Diagnosis and Treatment, was published by Oxford University Press in 1999. A native of California, Hagerman lived in Colorado for 20 years as associate director of the child development unit at the Children's Hospital in Denver.

What event led you into research?

After medical school, I did a fellowship in learning disorders and realized that I wanted to focus on children with neurodevelopmental disorders. The fellowship was a nice combination of pediatrics, neurology, psychiatry, and psychology - I enjoyed that interdisciplinary interaction and spending time with families trying to sort out complex problems. I was very interested in understanding both the biological underpinnings and the emotional, behavioral, and cognitive aspects of individuals with neurodevelopmental disorders.

I have great empathy for this group of patients and feel there is a tremendous amount that could be done, medically speaking, to make their burden in life much easier. Treatment can be extremely helpful to them and that always gives me lots of positive feedback. That has just stimulated more clinical work and research. I do intensive research in fragile X. What got me involved in that field is [that] in the early 1980s, we started testing for it, because the test became available and there was a flood of patients that turned out to be positive. So I realized it was fairly dramatically under-diagnosed.

Who has most inspired and/or influenced your work?

I would say my husband has. He's a molecular biologist and we spend a lot of time talking about research. I would say he has had the most impact on my career and influence in directing various lines of research, particularly focused on molecular and clinical correlations.

Who awarded you your first grant and what was it for?

I believe it was a fragile-X screening grant in the mid-1980s from the Colorado Trust, a private foundation in Denver. It allowed us to screen for fragile X among residential centers and special education populations in the schools. That further stimulated more research because we identified so many patients.

What was your best idea or theory?

Regarding our fragile X research, one of the thoughts that came about from a lot of clinical work is that there are subgroups of individuals with the permutation who are mildly clinically affected, and that area has been very productive in terms of more recent findings in our research. Understanding that this group exists with features of fragile X and the molecular underpinnings of that has really opened up a whole new area of endeavor or research. It's a theory that has now led to productive research findings.

Which event in your career has been challenging or discouraging?

Based on our screening for fragile X in school districts, I must say that there are many people out there that are very much against genetic screening. Not the general public, but actually members of the media working for BBC who were interested in doing a report on our screening in school districts' special education programs. They twisted a great screening program into kind of having a eugenics connotation that was very distasteful and disturbing. I felt like I was being labeled as a "eugenics queen" and that was very disturbing to me. There are many groups out there against genetic testing and I didn't realize this was such a powerful influence in the media.

I know that identifying individuals with fragile X syndrome is very helpful for the families in allowing them to get appropriate counseling information and to also seek treatment for their children. And I know that it's been helpful for the vast majority of families that I've dealt with. In fact, we later did a survey which showed that 91% of families found the diagnoses remarkably helpful, and we subsequently published those results.

What are your research plans for the next 5 years?

I have a real focus on treatment and I want to develop better treatments for kids with neurodevelopmental disorders, including individuals with fragile X and autism. We would like to better understand and do more research on molecular-clinical correlations in fragile X, particularly as it pertains to permutation carriers. We've identified a new neurological syndrome in older male carriers of fragile X that we will be researching. I'd also like to understand better the molecular subtypes of autism, to help us understand how to better treat this disorder, and the association between fragile X and autism.

What are the qualities of a successful researcher?

You have to be open to new ideas, and I think you have to be flexible and supportive, particularly of new ideas and of personnel who are developing research related to new ideas. The ability to collaborate is the most important attribute of a good researcher, especially in someone in my position, where I am basically a clinician and I have to collaborate with people who are doing more basic levels of research - molecular genetics, genomics or pharmacology, and neurobiology.