Maxence Nachury, PhD

Professor

 

The Molecular Basis of Ciliopathies

The Nachury lab studies Bardet-Biedl Syndrome (BBS), a hereditary disease characterized by retinal degeneration, obesity, polydactyly, and polycystic kidneys. The root cause of Bardet-Biedl Syndrome is dysfunction of the primary cilium, a surface-exposed organelle required for vision, olfaction and developmental signaling. Pioneering biochemical and imaging studies by Dr. Nachury’s team have revealed that a complex of BBS proteins traffics signaling receptors out of cilia. The Nachury lab is now identifying the regulation of trafficking out of cilia by BBS proteins. A second research direction is aimed at cilia-derived extracellular vesicles (EVs). Ciliary signaling receptors that fail conventional exit are packaged into ciliary EVs. By dissecting the mechanisms of ciliary EV biogenesis, Nachury and colleagues will gain insight into the roles of these extracellular parcels in cell-cell communication.
 
Research in the Nachury lab is funded by the National Institute of General Medical Sciences (NIGMS), the National Eye Institute (NEI), Research to Prevent Blindness (RPB) and the America Diabetes Association (ADA). Dr. Nachury is the recipient of multiple awards including the 2020 Cogan award from the Association for Research in Vision and Ophthalmology (ARVO).

 

To Learn More:

https://profiles.ucsf.edu/maxence.nachury
http://nachurylab.ucsf.edu

 

Research Areas:

Retinitis Pigmentosa or Retinal Degenerations, Cilia, Ciliopathies
 
Learn more about UCSF Ophthalmology faculty research.

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Deepak A. Lamba, M.B.B.S., Ph.D.

Associate Professor

 

Retinal Repair Following Inherited and Age-Associated Degeneration

Dr. Lamba leads an NIH-funded laboratory focused on using human stem cells for retinal repair following inherited and age-associated degeneration. He utilizes stem cell technologies to generate disease-in-a-dish models or for cell replacement. The key research interests include (1) exploring the potential and challenges in retinal cell replacement therapies esp. the role of the tissue microenvironment and (2) developing stem-cell based model systems to understand various human retinal degenerations and identifying new therapeutic avenues including genome editing technologies like CRISPR. Dr. Lamba is a natural collaborator with clinician-scientists and since joining the Department in 2018 he has established collaborations with Drs. Jacque Duncan and Tony Moore. Dr. Lamba has mentored numerous pre- and postdoctorates and is also a member of the education committee. His group will provide opportunities for Scholars interested in harnessing the power of novel stem cell technologies to clinical problems especially retinal degenerations.

 

To Learn More:

https://profiles.ucsf.edu/deepak.lamba
http://lambalab.ucsf.edu
https://ophthalmology.ucsf.edu/lambalab/

 

Research Areas:

Gene Therapy, Retinitis Pigmentosa or Retinal Degenerations, Stem Cell Research, Leber Congenital Amaurosis, Retinal Development, Pluripotent stem cells, Cell replacement
 
 
Learn more about UCSF Ophthalmology faculty research.

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Jacque Duncan, MD

Professor

 

High resolution retinal imaging in inherited retinal degeneration

Dr. Duncan, Professor of Ophthalmology, leads an NIH-funded translational vision science laboratory focused on adaptive optics scanning laser ophthalmoscopy (AOSLO) imaging of human photoreceptors to discover mechanisms of cone death in inherited retinal degenerations. In addition, Dr. Duncan’s group is studying changes in cone structure and function during disease progression and testing the efficacy of treatments that aim to slow progression. Along with her collaborator Austin Roorda, PhD (UC Berkeley), they reported the first studies of cone structure during disease progression and in response to an experimental treatment. Dr. Duncan is also Co-PI with Joseph Carroll, PhD (Medical College of Wisconsin) on an NEI-funded Audacious Goals Initiatives proposal that will develop cone-dominant retinal disease models as a resource for translational vision research. Dr. Duncan’s group will characterize photoreceptor structure and function in patients with cone-rod dystrophy. In addition, Dr. Duncan is the Chair of the Foundation Fighting Blindness Consortium Executive Committee. She is the study chair of a natural history study examining the rate of retinal degeneration due to mutations in the USH2a gene (the RUSH2A study). She also serves as principal investigator on a number of clinical trials of treatments and natural history of disease progression in inherited retinal degenerations including retinitis pigmentosa and Usher syndrome.

 

To Learn More:

https://profiles.ucsf.edu/jacque.duncan


 

Research Areas:

Retina or Retinal Diseases, Retinitis Pigmentosa or Retinal Degenerations, Macular Degeneration, Adaptive optics, Retinal imaging
 
Learn more about UCSF Ophthalmology faculty research.

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