Research Scientists/Postdoctoral Fellows
Richard Smith, M.D.,D.M.S Research Specialist
After fellowships at the Armed Forces Institute of Pathology and two years as a research associate at the National Institutes of Health, Dr. Smith joined the full-time staff of the Ophthalmology Department at Albany Medical College and Albany Medical Center Hospital in upstate New York. He served for 10 years as Chairperson of the Department of Ophthalmology with a joint appointment in the Pathology Department. Dr. Smith came to Jackson Laboratory first as a visiting scientist in 1990. He joined the scientific staff in 1993 as a research scientist. He has worked closely with Dr. John since 1995, and formally joined the John Laboratory in 1998. Dr. Smith was the first to recognize the presence of glaucoma in aging DBA/2J mice. His skills in clinical examination and ophthalmic pathology and anatomy are the focus of his work in the John Lab. His skills and experience are invaluable for many projects, and are an important resource for training other lab members.
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.
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.Jeffrey Harder, Ph.D. Postdoctoral Fellow
As an undergraduate at Pennsylvania State University, I
explored interests in science and engineering by taking a broad range of
classes. I graduated with a B.S. in
Computer Science and developed a basic interest in bioinformatics. After graduation, in what began as a summer
job, I developed software for a small company with a focus in human resources. I ended up growing with the company for a few
years until my interests in biology resurfaced and began to develop a more
specific and social focus. Finally, after
reading a history of medical science, I clearly envisioned myself with a new
career in disease research.
I enrolled in a graduate program at the University of
Rochester called Pathways of Human Disease.
I completed my Ph.D. in Pathology under the mentorship of Dr. Richard
Libby and defined genes responsible for retinal ganglion cell death during
development, after mechanical optic nerve injury, and in DBA/2J glaucoma. Dissecting the molecular pathways that
trigger degeneration has the potential to inform treatment paradigms and
propose new susceptibility factors; however I became more intrigued by the
challenge of uncovering the complex interactions between genes and environment that
dictate the occurrence and form of disease.
I joined the John Lab in the Spring of 2013 excited by the opportunity
that working with Dr. Simon John, other John Lab members, and at The Jackson
Laboratory provides me to learn complex genetics and genomics. I am currently involved in projects investigating
the role of inflammation, the immune system, and diet in DBA/2J glaucoma, and using
bioinformatics and genetics to create new glaucoma models.