Yoshihiro Ishikawa, PhD.

Assistant Professor

 

Studying the structure-function relationship between collagen and its biosynthetic molecules

Yoshihiro Ishikawa, Ph.D. has studied how collagens are produced in the endoplasmic reticulum (ER) for over 15 years. Using diverse approaches, including biochemical, biophysical, and structural analysis and animal models, I have contributed significantly to the fundamental understanding of how collagen biosynthesis is orchestrated. He has functionally characterized over ten collagen-related biosynthetic molecules, including rER chaperones and enzymes required for posttranslational modifications. Furthermore, his in vitro studies identified unique patterns in collagen posttranslational modifications in different collagen types and specific molecular interactions between rER proteins, collagens, and other extracellular matrix proteins. While many studies on type IV collagen and its mutations using cell biology and model organisms have been reported, it’s still challenging to investigate the details of type IV collagen molecules with biochemical and biophysical approaches. To fill this important gap in our knowledge, he is uniquely qualified to conduct type IV collagen biochemistry and biophysics at UCSF.

 

To Learn More:

https://profiles.ucsf.edu/yoshihiro.ishikawa


 

Research Areas:

Gene Research, Retina or Retinal Diseases, Protein Folding and Quality Control
 
Learn more about UCSF Ophthalmology faculty research.

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Kayarat Nair, PhD

Assistant Professor

 

Mechanisms of Glaucoma and Ocular Growth

The Nair lab studies the genetics and biology of ocular diseases with a primary focus on glaucoma and relevant phenotypes. Glaucoma is a heterogeneous group of diseases characterized by death of retinal ganglion cells, specific visual field deficits, and optic nerve degeneration. It is a leading cause of blindness worldwide and affects over 70 million people. The genes and molecular mechanisms contributing to glaucoma are poorly understood. Our goal is to identify genes, molecular mechanisms and cellular networks contributing to glaucoma. Individuals with refractive errors (both myopia or hyperopia) are at a higher risk of developing glaucoma. Another focus of the lab is to understand the role of refractive error in the pathogenesis of glaucoma. Our laboratory employs a variety of multi-disciplinary approaches to dissect the role of complex disease associated genes at a mechanistic level. We have established important mouse models that recapitulate features of the human disease. They provide us the platform to discover new genes/pathways, elucidate the molecular mechanisms, contributing to glaucoma as well as to test hypothesis and new treatment ideas. In parallel, we employ tools of human genetics as a path towards the identification of disease genes.

 

To Learn More:

https://profiles.ucsf.edu/kayarat.nair
https://ophthalmology.ucsf.edu/nairlab/

 

Research Areas:

Glaucoma, Gene Research, Visual System Development
 
Learn more about UCSF Ophthalmology faculty research.

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Douglas Gould, PhD

Professor

 

Studying the biological functions of the extracellular matrix and its role in human disease

Our broad mission is to understand the biological functions of a specialized extracellular matrix structure called the Basement Membrane.

Our primary focus is a multi-system disorder that is caused by mutations in the genes encoding type IV collagen alpha 1 (COL4A1) and COL4A2.

Our goal is to understand the tissue-specific molecular mechanisms that underlie this syndrome and develop mechanism-based therapies that can prevent, reduce or delay disease in patients.

The Gould lab uses translational genetics to study the role that extracellular matrix proteins play in a multisystem connective tissue disorder caused by mutations in type IV collagens. Individuals with mutations in type IV collagen alpha 1 (COL4A1) or alpha 2 (COL4A2) often have a complex syndrome presenting with cerebrovascular, ocular, renal and muscular manifestations. Approximately one-third of these individuals have developmental defects of the eye leading to impaired vision or early onset glaucoma. The Gould lab uses genetic models to understand the molecular mechanisms underlying pathology in each organ that might represent therapeutic targets to prevent, reduce, or delay disease. Dr. Gould is the Director and Vice Chair for research and is dedicated trainee advocate and mentor with a commitment to inclusivity. The Gould lab provides research opportunities for Scholars interested in state-of-the-art genetic approaches, extracellular matrix biology, cell biology, physiology, biochemistry and advanced imaging.

 

To Learn More:

https://profiles.ucsf.edu/douglas.gould


 

Research Areas:

Glaucoma, Retina or Retinal Diseases, Gene Research
 
 
Learn more about UCSF Ophthalmology faculty research.

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Bruce R. Conklin, MD

Professor

 

Therapeutic Approaches to Genetic Disease

Dr. Conklin uses induced pluripotent stem (iPS) cells, both from patients and engineered to have particular mutations to model human disease. His lab is developing new genome engineering methods in human iPS cells to identify therapeutic targets in cardiac, motor neuron and retinal diseases. Trainees will utilize CRISRP technology for therapeutic genome editing, then test the effect of genome editing in diseases modeled in iPS cells. The combination of human iPS cells and genome editing provide unprecedented opportunities to explore new areas of biology and discover new therapies for disease. Dr. Conklin has mentored many graduate students and postdoctoral fellows in the lab. He has on-going collaborations with Dr. Shen that has led to a publication in Nat Genetics 2019 and Dr. Lakkaraju studying water transport across the retinal pigment epithelial (RPE), as a functional measure of gene correction in Best’s disease. Scholars interested in the use of state-of-the-art therapeutic genome editing strategies and stem cell biology will find opportunities in Dr. Conklin’s lab.

 

To Learn More:

https://profiles.ucsf.edu/bruce.conklin
https://labs.gladstone.org/conklin/
https://ucsfhealthcardiology.ucsf.edu/people/bruce-conklin
 

Research Areas:

Gene Research, Gene Therapy, Stem Cell Research
 
Learn more about UCSF Ophthalmology faculty research.

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