Gleeson Lab (2026)

One of the ways to uncover mechanisms of disease is through studying the genetic factors necessary for brain development in humans. Our laboratory seeks to identify genes involved in the development of the brain from study of these special patients. We investigate the mechanisms of disease for genes that we and others identify as disrupted in patients. Finally, using a combination of animal and stem cell models, we seek to develop new treatments for pediatric brain disease. Our recent work has uncovered several pediatric brain diseases that were previously considered untreatable to have obvious points of treatment. We described mutations in the BCKDK gene in patients with autism and epilepsy that predict that they should respond to simple nutritional supplementation of branched chain amino acids. We described mutations in the MTOR, AKT3, PIK3CA genes in patients with hemimegalencephaly that predict they should respond to medications inhibiting the mTOR pathway. We described mutations in the AMPD2 gene in patients with a form of neurodegeneration that predict that they should respond to simple nutritional supplementation with an over-the-counter supplement AICAR. We are excited to find these potentially treatable conditions in patients hiding in our clinics, and hope that the research field can help us move forward to developing treatments for what were previously considered untreatable conditions. We are fortunate to receive support from the Howard Hughes Medical Institute, the National Institutes of Health, the Simons Foundation for Autism Research Initiative and the Qatar National Research Foundation. Past research was funded by the Searle Scholars Fund, the Merck Program in the Developmental Disabilities, the Burroughs Welcome Fund, the American Epilepsy Foundation, and the Ray Thomas Edwards Foundation.

31/03/2022

Spit for Spina Bifida with the Gleeson Lab at UCSD!

The Gleeson Lab at UC San Diego and Rady Children's Hospital is enrolling individuals of all ages with Spina Bifida and both of their biological parents in a neurogenetic study. With your help, we hope to increase our understanding of why some people are born with spina bifida. This study involves answering a few questions about your medical history, and providing saliva samples by mail. From the saliva samples, we will collect DNA and compare DNA sequences within your family. This study can be completed at no cost to you, and your information will be kept completely private.

If you are interested in participating, please use this secure online form to initiate enrollment: http://goo.gl/forms/ipwG5B6RxNFeAshE3
For more information, visit the study web page or connect with at contact@gleesonlab.org or (858) 246-0547.

02/08/2017

The Gleeson Lab at UC San Diego is enrolling families in a study of the genetic causes of spina bifida. To enroll, participants must have:
1. Had surgery within a few days of birth or prenatally
2. Had a shunt placed or hydrocephalus history
3. Participant and both biological parents are all willing and able to provide a saliva sample by mail (ok to have different addresses)
4. Participant can be of any age
This free study involves answering a few questions about your medical history, and providing saliva samples by mail. We will keep your information completely private.
If you are interested in participating, please sign up using the secure webform below, and we will get in touch by phone or email.

https://goo.gl/forms/VWijzCgsFQoAyypt2

For more information, please check out http://www.gleesonlab.org/spina-bifida-consortium.html. We thank you for your interest in taking part in this important work!

To enroll, the participant must have: • Had surgery within a few days of birth or prenatally • Had a shunt placed • Participant and both biological parents are willing and able to send a saliva sample by mail (ok to have different addresses) • Participant can be of any age

30/08/2016

The Gleeson Lab at UC San Diego is enrolling families in a study of the genetic causes of spina bifida. To enroll, participants must have:

1. Had surgery within a few days of birth or prenatally
2. Had a shunt placed
3. Participant and both biological parents are all willing and able to provide a saliva sample by mail (ok to have different addresses)
4. Participant can be of any age

This free study involves answering a few questions about your medical history, and providing saliva samples by mail. We will keep your information completely private.

If you are interested in participating, please sign up using the secure webform below, and we will get in touch by phone or email. For more information, please check out http://www.gleesonlab.org/spina-bifida-consortium.html. We thank you for your interest in taking part in this important work!

Address

92101

Website

http://www.gleesonlab.org/index.html

Alerts

Be the first to know and let us send you an email when Gleeson Lab posts news and promotions. Your email address will not be used for any other purpose, and you can unsubscribe at any time.

Contact The Practice

Send a message to Gleeson Lab:

Gleeson Lab