I received a Bachelor's degree in Molecular Biology from the University of Manchester, UK.  I went on to join The Wellcome Trust Sanger Institute, Cambridge, UK where I studied for my Ph.D. in comparative genomics and bioinformatics.  In 2003 I joined the laboratory of Dr. John Schimenti, at The Jackson Laboratory, as a Postdoctoral Fellow, gaining hands-on experience using mice to study genes contributing to developmental disease.  I returned to the UK, to train with Dr. Stuart Wilson and Dr. Marysia Plazcek at The University of Sheffield, in powerful new methods for gene-silencing.  

I returned to The Jackson Laboratory as an Associate Research Scientist in October 2005, working closely with Simon John to understand the neurobiology of glaucoma and to develop clinically relevant neuroprotective treatments. Under the strong mentorship of Simon, I received my first independent grant in 2006 and was subsequently promoted to Research Scientist.  

Mimi deVries, Ph.D. Lab Manager/Research Scientist

I received my undergraduate and graduate training at the North-West University in South Africa.  After receiving my B.Sc. degree with majors in Biochemistry, Physiology and Psychology, I went on to complete my B.Sc. Honors, M.Sc., and Ph.D. degrees in Biochemistry.  My M.Sc. thesis work focused on the screening of families with Osteogenesis Imperfecta (OI: Brittle Bone Disease) for possible mutations in type I collagen.  This study eventually led to the identification of the mutation in a1(I) type I collagen in one family, as well as the establishment of a prenatal diagnostic test for this family.  For my Ph.D. thesis I focused on delineating the cis- and trans-factors responsible for regulating the transcription of the a1(I) type I collagen gene.

After completing my Ph.D., I wanted to gain experience in genetics and developmental biology, as a knowledge base in these two areas is critical for understanding disease processes.  I joined the laboratory of Dr. Barbara Knowles at The Jackson Laboratory as a Postdoctoral Fellow, and continued in her laboratory as a Research Scientist.  During this time I was able to elucidate the role of specific maternal genes in the oocyte-to-embryo transition. I was fortunate to then join the John Laboratory. This move not only gave me an opportunity to work in a vibrant lab utilizing my managerial, mentoring and experimental skills, but also brought me back to my “roots”. I’m once again working on a disease model using the experience I gained along my scientific journey while learning new things in a supportive and exciting environment.  My major research is on the biomedical and deployment side of a project that is developing an innovative, ultra-miniature pressure-measuring device with an automated reading system. The tiny devices will permanently reside in the mouse eye providing valuable long-term data. These devices will allow experiments that are not currently possible. The technology is being designed to allow modification for human deployment to improve patient care. These devices will also improve my other projects that develop inducible models of glaucoma and that identify new mouse strains with glaucoma.

When my mother heard I was moving from South Africa to an island on the coast of Maine, she promptly started knitting sweaters!  Despite the drastic change in temperature, life on MDI has suited me very well.  Apart from finding a scientific home filled with excellent scientists with a wealth of knowledge, incredible resources, and an opportunity to transfer knowledge to younger generations, I also found a home in the community.  I now live on the “Quiet Side” of MDI with my husband - whom I met on said island on the coast of Maine - and one slightly nutty Beagle.  We love to sail and hike on and around MDI, and get away from the “crowds” by going to Moosehead Lake.

Kayrat Saidas (Sai) Nair, Ph.D. Postdoctoral Fellow & Research Scientist

I received my Ph.D. in Biochemistry from the University of Mumbai, India. From there I became a Postdoctoral Fellow in the laboratory of Dr. Vladlen Slepak at the University of Miami.  My research focused on factors regulating phototransduction. With the advent of human/mouse genome sequencing, and emphasis shifting towards translational research, I felt it both timely and important to shift my research to examining ways to solve complex problems related to human diseases. With a background and interest in vision research, it was only appropriate to study ocular diseases. I joined the John Laboratory as a Postdoctoral Fellow in 2005. I have since progressed to a Research Scientist position, which allows me more independence, as well as the training and experience needed in preparation to become a PI. The goals of my projects are to understand genetic factors controlling intraocular pressure (IOP) elevation and glaucoma.

One of my projects focuses on understanding the genetic complexity underlying elevated IOP and glaucoma, using the DBA/2J mouse as a model. Using the power of mouse genetics, our goal is to identify genetic mutations and their interactions that confer susceptibility towards glaucoma. It is challenging to identify contributing casual genes in complex, late-age onset diseases.  We have been able to achieve this utilizing a specific gene mapping strategy that has been refined and well-proven in the John Lab.   Our mapping efforts have led to identification of 7 genetic loci that contribute to IOP elevation in this system. These loci interact with one another and modulate IOP elevation. Of these 7 loci, we have already identified three causal mutations. Understanding how these mutations and loci influence pathogenesis will help us identify pathways that govern susceptibility to glaucoma. Potentially, this could lead to new avenues to treat the disease in humans.  Additionally, this work has allowed us to gain insight into factors determining disease severity and penetrance. Success in this work is possible, because of the great expertise in ocular disease and in mechanistically dissecting complex diseases using mouse genetics in the John Lab. The great support provided by John Lab members and the general  Jackson Laboratory environment are also important.

Another project involves characterizing a much needed animal model that recapitulates features of angle closure glaucoma. Angle closure glaucoma (ACG) is a subset of glaucoma affecting 16 million people. ACG is estimated to blind more people worldwide than other common forms of glaucoma, with 4 million people being bilaterally blind. The genetic and molecular mechanisms of IOP elevation in ACG are not understood but a reduced ocular size is common.  A chemical mutagenesis screen led to identification of a mutant mouse strain with reduced ocular size and a phenotype resembling ACG. Subsequently, we have identified the gene responsible for this condition. Comparative genetics has led to identification of mutations in the same gene in human families with similar phenotypes. 

Krish Kizhatil, Ph.D. Research Scientist

I earned my Ph.D. in Microbiology and Immunology at the University of Tennessee, Memphis where I uncovered a role for the cellular cytoskeleton in retrovirus entry. Then, during my postdoctoral studies at Duke University, I developed my skills as a Cell biologist and I identified a novel role for the membrane skeletal protein ankyrin in post-Golgi delivery of membrane proteins to the plasma membrane in epithelial cells and photoreceptors. In the summer of 2009, I came to The Jackson Laboratory because of an opportunity to work with Dr. Simon John, a pioneer in the field of glaucoma research. 

In the John Laboratory, I am learning to use mice to decipher causes of complex diseases. During this training I am mastering clinical and physiological ocular examinations, and the use of mouse genetics and genomics to  identify genes pathways impacting glaucoma. Elevation of intraocular pressure (IOP) is a significant risk factor for developing glaucoma and is caused by disruption in the drainage of aqueous humor. My aim is to identify molecular pathways regulating IOP elevation. Currently, my major focus is on understanding the molecular mechanisms of aqueous humor drainage into Schlemm’s canal. As a part of this study, I am taking a holistic approach in characterizing the cells of the Schlemm’s canal at a cellular as well as transcriptome level.  I am also involved in the development of implantable pressure sensors that can be monitored by radio-telemetry and in understanding the role of endothelial and  immune components in the progression of glaucoma and the death of retinal ganglion cell neurons. These studies are predicted to reveal a new understanding that can be used to design new therapeutic interventions. 

Ileana Soto, Ph.D. Postdoctoral Fellow

  
I graduated with a B.A. in Life Sciences from the University of Puerto Rico. As an undergraduate student I worked in the laboratory of Dr. Rosa Blanco at the Institute of Neurobiology.  The research experience was so great that I decided to apply for graduate school and continue doing research in her laboratory.  My thesis project in Dr. Blanco’s laboratory consisted of determining the effects of basic fibroblast growth factor (bFGF) in the survival and axonal regeneration of frog retinal ganglion cells (RGCs) after optic nerve axotomy. In 2005, I received my Ph.D. from the Biology Intercampus Program at University of Puerto Rico. My studies in the frog visual system encouraged me to continue further studies of the retina but with a more biomedical perspective.  

During my first postdoctoral training experience at Johns Hopkins University, I had the opportunity to work in the DBA/2J mouse glaucoma model and to study molecular changes that occur in RGCs and glial cells during the progression of  glaucoma.  However, a deeper interest for the role of astrocytes in glaucoma, and the use of mouse genetics to identify pathways and experimentally test mechanisms motivated me to join Dr. Simon John’s laboratory for a second postdoctoral training.  My major projects are assessing the interactions between glaucoma and diabetes and the impact of dietary components on disease outcome.  I plan to address whether cellular pathways activated in astrocytes contribute positively or negatively to disease onset and progression.  I am also interested in possible therapeutic treatments that prevent or delay the progression of the disease in mouse glaucoma models.  My goal is to identify certain mechanisms involved in the pathophysiology of glaucoma that can then be targeted for the treatment of the human disease.

Peter Williams, Ph.D. Postdoctoral Fellow

I received my undergraduate training at Cardiff University completing a BSc (Hons) in Neuroscience focusing primarily on molecular and sensory neuroscience. During this time I joined the laboratories of Profs. James Morgan and Marcela Votruba in the School of Optometry and Vision Sciences, Cardiff University doing a research dissertation on retinal ganglion cell dendritic and synaptic plasticity in OPA1 mutant mice (a model of autosomal dominant optic atrophy).  I continued this project into full graduate training completing my PhD in Visual Neuroscience and Molecular Biology in 2012. As well as studying the effects of OPA1 mutations on retinal ganglion cell plasticity in mice, I spent time developing novel transfection methods (in vivo mag netofection), revealed an early marker of neuronal degeneration in the APPswe Alzheimer’s mouse model, and generated a library of tree shrew (Tupaia belangeri) retinal ganglion cells.

In the autumn of 2011, I was lucky enough to be invited to the Jackson Laboratory as part of a collaboration project between Profs. James Morgan (Cardiff University) and Simon John, studying dendritic degeneration on retinal ganglion cells during DBA/2J glaucoma. Having thoroughly enjoyed this project and seeking the mentor ship of Simon to progress intellectually as an independent scientist, I joined the John lab as a Post Doctoral Fellow in Spring, 2012. My current project will focus on the neurobiology of DBA/2J glaucoma and the role of the transendothelial migration pathway in optic nerve damage, components of which have recently been shown to be upregulated in DBA/2J glaucoma.

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