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University of Florida scientists are teaming up to examine the effects of gene deletion on biochemical pathways and attempt to rescue brain circuitry with targeted therapies.

Xtraordinary Joy Scientific Advisors

Leylah Drusbosky, Ph.D

Leylah Drusbosky, Ph.D., is a Medical Science Liaison at Guardant Health, a company that utilizes blood samples to guide personalized treatments in advanced cancer patients. She received her Ph.D. in molecular biology from the University of Florida and has expertise in next-generation sequencing, precision medicine, and translational research.

Kim Hawkins, Ph.D.

Kim Hawkins, Ph.D., is the Lead of Global Reagent Management for all vaccine R&D labs in Sanofi Pasteur. She received her Ph.D. in neuroscience at the University of Florida. She has experience investigating new treatment strategies for ischemic strokes, studying epigenetics of learning and memory, and neurogenetic viral therapy.

Coy Heldermon, MD, Ph.D.

Coy Heldermon, MD, Ph.D., is an associate professor of medicine, board-certified medical oncologist with expertise in the treatment of breast cancer at the University of Florida. He is a member of the American Society of Hematology and the American Society of Clinical Oncology. His research expertise is in the use of gene replacement and stem cell therapies for the treatment of inherited disorders such as lysosomal storage diseases. He also studies the spread of stem cells from maternal or malignant sources using mouse models. Heldermon also serves as the faculty advisor for the Xtraordinary Joy Student Chapter at UF.

Fatima Shaerzadeh, Ph.D.

Fatima Shaerzadeh, Ph.D. is a principal scientist at Lacerate Therapeutics, a company that is dedicated to the discovery and development of AAV-based gene therapies. She received her Ph.D. in Neuroscience in iran and joined Khoshbouei's lab as a post-doc fellow. Her research is in nuerobiology and neurodegenerative diseases. 

Research Publications

Xtraordinary Joy is proud to announce groundbreaking research publications.

Dr. Tim Garrett,
Associate Professor at the University of Florida


Latest Publication: Metabolomics and Lipidomics of Xq27.3-28 Neural Progenitors

Understanding X-Chromosome deletion disorder using metabolomics and lipidomics. (Zoom discussion)

Naohiro Terada, MD, Ph.D.

Naohiro Terada, MD, Ph.D., is professor of experimental pathology and director of the Center for Cellular Reprogramming at the University of Florida. He has published hundreds of research articles and served with numerous granting and publication agencies.

Research and Funding Timeline

Xtraordinary Joy has been making great strides...

2017

The first induced pluripotent stem cells from a patient with Xq27.3-Xq28 deletion were established. Clones with both the intact and deleted X chromosome were compared and differentiated into neurons. 


Dr. Naohiro Terada 

Dr. Jennifer Bizon 

Dr. Habibeh Khoshbouei 

2018

Dr. Yost and Dr. Garrett awarded $50,000 from XJoy. Metabolomic and Lipidomic studies were performed on the groundbreaking neurons with Xq27.3-28 deletion 


Dr. Richard Yost 

Dr. Timothy Garrett

2019

Brain organoids were developed with Xq27.3-28 deletion. Mitochondrial deficiencies were detected and therapeutics were studied to recover the deficits.


Dr. Christina Pacak 

Dr. Christopher Martyniuk

2020

 iPSCs-derived cortical neurons with Xq27-q28 deletion display altered morphology, transcriptomics, maturation and increased neuronal activity 


Investigations of the genetic underpinnings of Xq27-Xq28 deletion syndrome: (1) whether the deletion boundaries are accurately determined by currently available clinical testing; and (2) whether alterations in mRNA expression patterns and splicing patterns of specific genes in this region are important components of the disease process. 


Dr. Fatima Shaerzadeh

Dr. Peter Kang


2021

Lipidomic Atlas of nerve growth in X-deletion disorders


Dr. Timothy Garrett

Click to view research

2022

Assessing efficacy of antioxidants docosahexaenoic acid (DHA) and N-acetyl cysteine in improving mitochondrial bioenergetics for X-chromosome deletion (Xq27.3q28) 


Dr. Christopher Martyniuk 

2023

Dr. Curtis Nutter awarded 


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