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Hannah (classic 18 years) and I traveled to Amherst, Massachusetts to visit with Dr. Downes at the University of Mass and see his zebrafish first hand. Dr. Downers, a geneticist, has been featured in this newsletter in previous issues, and also spoke at our last symposium.

Dr. Downes works with zebrafish to study neurological mechanism. He uses zebrafish embryos as they develop quickly (over a period of days) outside of the mother and transparent allowing him to peer into the animal and observe development. He found that zebrafish who were unable to swim normally have a mutation in the same gene (DBT) which results in MSUD in humans.

Dr.Downes has been experimenting with various chemicals to see if they can improve neurological function. Positive results could then be used to develop medicine for people with MSUD with the goal of preventing the neurological damage that occurs with this disease.

During our visit, Dr.Downes showed us both adult and embryonic zebrafish. We were able to look at them under a microscope and gain an understanding of how his research is carried out.

We were also fortunate to meet Dr. Timo Friedrich, the graduate student who led the MSUD research. He was very excited to meet Hanah, which allowed him to put a face to those who might be helped as a result of this research.

The MSUD family Support Group has provided Dr. Downes with a $5000 grant with money raised by the Kessel Family including the Bob Whitman Research Foundation and the Badzin Family Foundation to continue with his important work.



NBS-MSUD Connect: Advancing MSUD Research And More

NBSCONNECT.ORG

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Adjusting Protein In An Adult With MSUD

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In The Professional Journals

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Updates To Nutrition Management Guidelines

The Nutrition Management Guideline for MSUD was first published in 2014. Since that time, there have been reports of new research and experiences that have prompted updates of the guideline.

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A Child's Life

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