Jose Ronaldo Lima de Carvalho, MD, a Research Associate at the Department of Ophthalmology, has received a prestigious research grant from the
Knights Templar Eye Foundation, Inc. Dr. Lima de Carvalho works with
Peter M. J. Quinn, PhD, an Assistant Professor at the
F. M. Kirby Center for Molecular Ophthalmology and director of the
PrimeSight lab. The PrimeSight laboratory focuses on disease modeling and therapy development for eye diseases.
The Knights Templar Eye Foundation has recognized Dr. Lima de Carvalho’s critical research on “Elucidating underlying mechanisms in OPA3-related autosomal dominant and recessive diseases.” Dr. Lima de Carvalho’s research aims to illuminate and potentially treat both
autosomal dominant optic atrophy and cataracts (ADOAC) and
3-Methylglutaconic aciduria type III (MGA3, also dubbed Costeff syndrome). These severe, early-onset disorders—caused by mutations in the OPA3 gene—typically manifest with optic atrophy and blindness during childhood. Peripheral neuropathy, cognitive impairment, and dysmotility might also occur.
There is a significant need for the development of effective therapies, as there is currently no treatment for these devastating diseases. Previous studies with animal models did not recapitulate human disease.
Dr. Lima de Carvalho’s innovative research employs “retina-in-a-dish” technology, using human retinal organoids that closely mimic the complexities of the human retina. These models will enable detailed exploration of the molecular pathways associated with the optic atrophy that is characteristic of OPA3-related disorders. From this, Dr. Lima de Carvalho’s study seeks to identify novel targets for successful therapies.
Dr. Lima de Carvalho’s ultimate goal is to use these human retinal organoid models to discover both gene-specific and gene-agnostic therapies—translating his findings into treatments capable of preventing blindness and reducing overall disease morbidity, and thereby profoundly improving the quality of life for patients affected by such early-onset optic neuropathies.
Article by Maressa Park and Jose Ronaldo Lima de Carvalho, MD