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Iryna Ethell

Associate Professor of Biomedical Sciences
Iryna Ethell
Promising Brain Developments
Autism spectrum disorder (ASD) affects an estimated one in 100 children with a range of communication, social and behavioral impairments. People with Fragile X syndrome, the most common inherited form of mental retardation, are at high risk for ASD. Professor Ethell’s research on the development of brain cells is contributing new information on how the brain works in health and disease, and has led to an effective treatment for Fragile X syndrome.

Areas of Expertise

Areas of Expertise:
  • Brain development
  • Plastic changes in nerve cell connections
  • Fragile X Syndrome
Division Affiliations: Press Release/Article: Profile:

Select Honors and Distinctions

  • FRAXA Foundation Awards (2007, 2008, 2009)
  • FRAXA Breakthrough Award (2008)
  • UC Regents Faculty Development Award (2002)

Research Summary

Understanding neuronal network development in the brain; finding therapies for neurodevelopmental disorders associated with mental retardation and autism

Q&A

Q: What is Fragile X syndrome and how is it treated?
Fragile X syndrome is the most common inherited cause of mental impairment and autism. Fragile X affects approximately one in 3600 males and one in 6000 females. Children, mostly boys, with Fragile X Syndrome show neurodevelopmental and neuropsychiatric disabilities, which include visual-spatial memory and attention deficits, developmental delay and hyperactivity. Some patients with Fragile X also develop childhood seizures and show abnormal electroencephalographic (EEG) activity. Fragile X is caused by gene abnormalities (FMR1 gene) leading to its silencing, with an absence of the corresponding protein (FMR protein). Effective therapies for Fragile X syndrome are few and far between, so highly effective therapeutic strategies that might work in these patients are well received. Human subjects with other autistic spectrum disorders may also benefit from therapeutic strategies found for Fragile X.

Q: Your discovery that the readily available drug minocycline can be used to treat Fragile X syndrome has been described as the most important scientific breakthrough in the Fragile X field in years. Is the drug in clinical trials for this application?
Our findings prompted several clinical trials testing the effects of minocycline in humans. In clinical studies conducted in Toronto, Canada in early 2009, significant functional benefits of minocycline treatment in human subjects with Fragile X (ages 13-32) were found on a range of behaviors. Language-related behaviors, such as expressive language skills and social communications, were also improved following minocycline treatment in a clinical study that was conducted at UC Davis. Another controlled clinical trial is ongoing at UC Davis to test minocycline against placebo treatments. It’s really exciting to see clinical applications like this of our research!

Q: Who are the most influential public voices in your field and what are they saying?
“There is currently no cure for Fragile X, although appropriate education and medications can help maximize the potential of each child. However, most boys and many girls remain significantly affected throughout their lives. The cost to society for treatment, special education and lost income is staggering. The need for research aimed at treatment is urgent.”
—Dr. Michael Tranfaglia, Chief Scientific Officer of FRAXA Foundation.

“Fragile X is poised to become a triumph for translational research and the design of rational therapeutics for brain disease."
—FRAXA Scientific Advisor Dr. Justin Fallon

“The National Fragile X Foundation is honored to be able to support a research project that has the potential to bring significant improvement in a relatively short period of time to individuals with Fragile X syndrome. We know that families are also excited about this possibility. A goal of the National Fragile X Foundation is to move research forward that translates scientific breakthroughs into near-term treatments — and this study has the potential to do just that.”
—Executive Director Robert Miller, National Fragile X Foundation

Q: What movies, documentaries or TV programs have you recently found interesting and/or inspiring?
I am always inspired by the art of ballet, its beauty and grace. I also admire the level of commitment, dedication and perseverance of ballet dancers.

Q: How do your students inspire you?
I like the university setting because students always ask unique and eccentric questions that inspire unconventional ways of thinking, outside the box.
Iryna Ethell “Clinical studies follow the basic science, because once there is a solid understanding of how problems arise, it is much easier to come up with solutions.”

—Iryna Ethell
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