LOUIE'S HUWE: WHY IS RESEARCH INTO HUWE1 IMPORTANT?
Louie's Huwe is a nonprofit dedicated to driving research into HUWE1. People affected by HUWE1-related genetic conditions vary in the symptoms they experience. However, because these conditions are extremely rare, families can be left with uncertainty around diagnosis, outlook, treatments and how to get the best support. Through research, Louie's Huwe aims to:
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Improve recognition of HUWE1 as a diagnosis and better understand the symptoms.
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Build knowledge of HUWE1 gene function to understand the genetic basis of this disorder.
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Identify treatments for the most pressing symptoms, particularly epilepsy.
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Improve lives with information and guidance.
WHAT RESEARCH DOES LOUIE’S HUWE SUPPORT?
Key areas of research into HUWE1 that Louie's Huwe currently supports include…
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Clinical research with Kristin Barañano, M.D., Ph.D., at John's Hopkins University School of Medicine. This involves a structured clinical interview, to better understand HUWE1-related symptoms and to guide clinical management. Contact us for more information about participating.
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Laboratory research at the Grill Lab at Seattle Children’s Research Institute with Louie’s Huwe Scientific Advisor, Brock Grill, Ph.D. See below for details.
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The HUWE1 Data Collection Program, powered by RARE-X. This includes patient reported surveys, collating symptoms and providing anonymised access for researchers around the world. Patients can take part at: https://huwe1.rare-x.org/
You can learn more about our scientific advisors here: Louie's Huwe Team.
MORE ABOUT LOUIE'S HUWE SUPPORTED RESEARCH PROJECTS...
Grill Lab: HUWE1 research at Seattle Children’s Research Institute, supported by Louie's HUWE
Who is carrying out the research?
Brock Grill, Ph.D. is a professor and principal investigator actively researching HUWE1 and a Louie’s Huwe Board Member. His work focuses on understanding how information is relayed within nerve cells to regulate cellular activities and animal behavior using the microscopic worm C. elegans. Dr. Grill and his team at Seattle Children’s have been studying the role of HUWE1 in the nervous system for the past twelve years. He is a professor at the University of Washington Medical School and at the Seattle Children’s Research Institute, USA.
What does the research involve?
As a laboratory-based program, this research aims to use a microscopic nematode, C. elegans, to study HUWE1 gene function. C. elegans is a highly tractable model for both genetic and pharmacological studies on HUWE1 (also called EEL-1 in C. elegans). The Grill lab’s work has shown that HUWE1 is required to preferentially regulate the nerve cells that quiet the nervous system. Dr. Grill is now using CRISPR gene editing to examine how human genetic variants in HUWE1 affect gene function in C. elegans. His team is also working towards developing humanized HUWE1 C. elegans models, and using large-scale pharmacological studies to identify small molecules targeting HUWE1.
What are the benefits?
This research will increase our understanding of how human variants in HUWE1 affect gene function, and test whether individual human variants in HUWE1 are pathogenic, supporting causative diagnosis for individual patients. Pharmacological outcomes have the potential to identify new therapies for kids with HUWE1-associated neurodevelopmental disorder.
Through research we aim to further understanding of HUWE1. Our international HUWE1 community, fundraising and voluntary board is what makes this possible - thank you for your support.
YOUR DONATIONS SUPPORT HUWE1 RESEARCH
If you'd like to make a donation, please do so via PayPal below. Or to help us avoid processing fees, please send a check to 'Louie's Huwe' at 508 Crabapple Drive, Stafford, VA 22554.
All donations, no matter how small, are gratefully received and will help fund research into HUWE1.
