Gareth Howell, Ph.D.

Associate Professor, Diana Davis Spencer Foundation Chair for Glaucoma Research

Applies genetics and genomics approaches to study age-related neurodegeneration associated with Alzheimer’s disease, dementia and glaucoma.

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About Gareth Howell, Ph.D.

In the Howell lab, we apply genetics and genomics approaches to identify fundamental processes involved in the initiation and early propagation of age-related neurodegenerative diseases, focusing on Alzheimer's disease, non-Alzheimer's dementia and glaucoma. Understanding these processes provides the greatest opportunity of therapeutic intervention. We are particularly interested in the role of non-neuronal cells including astrocytes, monocyte-derived cells (such as microglia), endothelial cells and pericytes.

In previous work, I applied novel genomics and bioinformatics strategies to identify new molecular stages of glaucoma that preceded morphological changes. Genetic knockout and/or pharmaceutical approaches showed that targeting the complement cascade and endothelin system significantly lessened glaucomatous neurodegeneration in mice. Our work with glaucoma continues in collaboration with Dr. Simon John, and we are also now applying similar genetics and genomics strategies to understand initiating and early stages of Alzheimer's disease, vascular dementia and other dementias. A major aim is to combine knowledge from human genetic studies with the strengths of mouse genetics to develop new and improved mouse models for dementias and make them readily available to scientific community.

Education and experience

Education

The Sanger Institute
Ph.D., comparative genome mapping
2002

University of Manchester
B.Sc., molecular biology
1993

Experience

The Jackson Laboratory
Assistant Professor
2012-present

The Jackson Laboratory
Research Scientist
2005-2010

The University of Sheffield, Sheffield
Postdoctoral Fellow, Wilson/Placzek Lab
2005

The Jackson Laboratory
Postdoctoral Fellow, Schimenti Lab
2003-2004

The Sanger Institute
Project Leader of Experimental Gene Annotation Group
2000-2002

The Sanger Institute
Research Assistant in the X Chromosome Mapping Group
1993-2000

Grants, Honors, and Accomplishments

The Schaffer Prize for Innovative Research
Glaucoma Research Foundation
2013

Barbara and Joseph Cohen Young Investigator Award
2007

Selected Publications

Highlighted Abstract

Primary open-angle glaucoma (POAG) is a leading cause of blindness worldwide. To identify new susceptibility loci, we performed meta-analysis on genome-wide association study (GWAS) results from eight independent studies from the United States (3,853 cases and 33,480 controls) and investigated the most significantly associated SNPs in two Australian studies (1,252 cases and 2,592 controls), three European studies (875 cases and 4,107 controls) and a Singaporean Chinese study (1,037 cases and 2,543 controls). A meta-analysis of the top SNPs identified three new associated loci: rs35934224[T] in TXNRD2 (odds ratio (OR) = 0.78, P = 4.05 × 10(-11)) encoding a mitochondrial protein required for redox homeostasis; rs7137828[T] in ATXN2 (OR = 1.17, P = 8.73 × 10(-10)); and rs2745572[A] upstream of FOXC1 (OR = 1.17, P = 1.76 × 10(-10)). Using RT-PCR and immunohistochemistry, we show TXNRD2 and ATXN2 expression in retinal ganglion cells and the optic nerve head. These results identify new pathways underlying POAG susceptibility and suggest new targets for preventative therapies.

View full list of publications

Search MagazineNovember 15, 2018
Shedding light on new treatments for vision, eye problems
Recent success at The Jackson Laboratory in delivering corrected genes directly to the mouse eye holds promise for safe and effective gene therapy for inherited eye and vision problems.
Press ReleaseJuly 13, 2018
New research effort to understand role of APOE mutation in Alzheimer’s disease
Inheriting a specific genetic variant, APOEε4, is linked with 15-20 percent rise in risk of developing Alzheimer’s, with at least 20 other genes implicated. JAX researchers are studying how APOEε4 risk depends on other genes, in mice with a wide variety of genetic backgrounds.
- Alzheimer's Disease
- Neurodegenerative and Neuromuscular Diseases
Press ReleaseJune 18, 2018
Maine residents and JAX researcher join Alzheimer’s advocates on Capitol Hill to promote disease awareness and research funding
June is Alzheimer’s & Brain Awareness Month, a time dedicated to increasing public awareness of Alzheimer’s disease, available resources and how you can get involved to support the cause.
Research HighlightMarch 20, 2017
Research probes a key contributor to glaucoma
JAX Associate Professor Gareth Howell, Ph.D., is teaming up with the University of Rochester Medical Center’s Richard Libby, Ph.D., to determine how the endothelin system contributes to retinal cell death in glaucoma.

Press ReleaseJuly 23, 2018
Eight new mouse models for Alzheimer’s disease available to researchers
Indiana University-Jackson Laboratory MODEL-AD Center addresses critical need for precision animal models for Alzheimer’s research.
Press ReleaseJune 26, 2018
JAX receives $1.5 million for glaucoma research
Gareth Howell named Diana Davis Spencer Foundation Chair for Glaucoma Research
Press ReleaseFebruary 26, 2018
Sharing research and hope for Alzheimer's disease
An Alzheimer's awareness event in Bangor was held to address the complexities of Alzheimer’s disease, to raise overall awareness, and to lend human voices to an immense public health problem.
Search MagazineJanuary 30, 2017
Breaking the bottleneck
For the first time, researchers have the tools to build new mouse models that truly represent patients with Alzheimer’s disease.