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Joe Gleeson
Title(s)
Professor of Neurosciences
Investigator of the Howard Hughes Medical Institute
Email
Pathways and Processes
Human genetics, brain disorders, genetic modifiers
Teams and Collaborators
Approaches
Patient recruitment, Disease mapping, whole exome sequencing, induced pluripotent stem cells, mass-spec
Diseases
Recessive forms of autism, epilepsy, mental retardation, ataxia
The Gleeson Lab has expertise in assembling cohorts of patients designed to understand disease mechanisms, with a focus on CNS development. Collaborative studies have determined how the hundreds of genes identified by the lab, mutated in human disease, promote assembly of the human brain. The Lab has also found many of these diseases actually represent very early onset neurodegenerative conditions, and thus may be amenable to treatment. Using a combination of animal and stem cell models, the lab has developed ways to study the function of these individual genes and to develop new treatments. Our major focus areas are in:
- Somatic Mosaicism — exploiting mosaic mutations to understand fundamental biology and diseases such as autism and focal brain dysplasia.
- Gene-Environment Interactions — uncovering genes mutated in neural tube defects, and asking how Folate can profoundly influence risk.
- Novel Therapeutics — asking ways in which antisense oligonucleotides can be used to reverse gene mutations.
- Brain Organoid Modeling — exploring how organoids can be used to understand the basis of disease, how this modeling can be improved through bioengineering, and how gene therapy can be used to correct mutations.