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.

Melvin Carruth

This letter is a tribute to my brother Melvin Carruth! We believe he is one of the oldest living African Americans with Maple Syrup Urine Disease.

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NBS-MSUD Connect: Your One-Stop Shop For MSUD Resources

NBS-MSUD Connect was launched as part of the Newborn Screening Connect patient registry (NBS Connect) in 2013 through a partnership between the Department of Human Genetics at Emory University, the Maple Syrup Urine Disease (MSUD) Family Support Group and other key stakeholders.

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Cambrooke Therapeutics

Cambrooke Therapeutics continues to expand its line of delicious and nutritious low protein foods to help improve the lives of individuals with Inborn Errors of Metabolism such as MSUD.

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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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Emory Metabolic Camp 2018 Announcement

Join us June 18-23, 2018 for the 24th Annual Metabolic Camp at Emory University in Atlanta, GA!

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From The Chairman’s Desk

As I sit here reflecting on how much the care and treatment of MSUD has changed over the years, my mind goes back to 1978 when our son Keith was born.

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MSUD Advocacy Report

Medical Nutrition Equity Act

The Medical Nutrition Equity Act (MNEA) would require all private insurance plans (state regulated or self-insured/self-funded) and federal health programs, including Children’s Health Insurance Program, Tricare, Medicaid, Medicare, and Federal Employee Health Benefit Plans, to provide coverage for formula and low-protein foods for all children and adults with MSUD.

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The MSUD Family Support Group Is Excited To Announce Their Participation In The Million Dollar Bike Ride

The MSUD Family Support Group is excited to announce their participation in The Million Dollar Bike Ride

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19th Biennial MSUD Symposium

I can’t believe that almost two years have passed and it is time for another MSUD Symposium! I am especially excited about this conference because I’ve built in extra time for social interaction.

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A Child's Life

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