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Rediscovering ADSLD, Recording 5, Dr. Wendy Hanna-Rose


AN "EASIER TO UNDERSTAND" PRESENTATION GEARED TOWARDS RARE BIRDS FAMILIES AND SCIENTISTS ALIKE!


Dr. Hanna-Rose presents her research using C. elegans worms to study the treatment of ADSL deficiency, focusing on three main phenotypes: uncoordinated movement, learning defects, and neuromuscular junction problems. She explained how these phenotypes are linked to SAICAR toxicity and potential interference with production of tyramine and dopamine, which are both synthesized from tyrosine. Wendy's lab is investigating the effects of drugs identified in a Perlara yeast screen, including disulfiram and ara-uracil, with some compounds showing promise in rescuing specific behaviors. The research aims to map drug effectiveness across different ADSL-related phenotypes to identify potential therapeutic strategies.



 
 
 

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Disclosure:

This site is intended to provide basic educational information about Adenylosuccinate Lyase Deficiency Disorder (ADSLD). It is not intended to, nor does it, constitute medical or other advice. Readers are warned not to take any action regarding medical treatment or otherwise based on the information on this website without first consulting a physician.

 

The information contained in this site is intended for your general education and information only and not for use in pursuing any treatment or course of action. Ultimately, the course of action in treating a given patient must be individualized after a thorough discussion with the patient’s physician(s).

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