Learn More About Leber Congenital Amaurosis

What is Leber Congenital Amaurosis?

Below highlights some of the Foundation Fighting Blindness funded research awards over the last 4 years that focus on diagnosis, treatments and cures for Leber Congenital Amaurosis:

University of Pennsylvania – Dr. Jean Bennett
Dr. Bennett is performing preclinical studies of gene and small molecule therapies for people with Leber congenital amaurosis (CEP290 and lebercillin mutations) and Stargardt disease (ABCA4 mutations).

University of Pennsylvania – Dr. Jeanette Bennicelli
Dr. Bennicelli is using induced pluripotent stem cells to create patient-specific disease models for Leber congenital amaurosis (lebercillin and CEP290 mutations). The models will be used to test potential therapies.

Massachusetts Eye and Ear Infirmary – Dr. Eric Pierce
Dr. Pierce is conducting lab studies in preparation for a clinical trial of a gene therapy based on an adeno-associated virus for people with Leber congenital amaurosis caused by mutations in RPGRIP1.

University of Iowa – Dr. Edwin Stone
Dr. Stone’s lab is working to improve its ability to provide high-quality, meaningful genetic testing  results to patients affected with all forms of retinitis pigmentosa.  They are also conducting natural history studies of patients to better understand the diseases.

University of Massachusetts Medical School – Dr. Hemant Khanna
Dr. Khanna is developing a gene therapy for Leber congenital amaurosis caused by mutations in the CEP290 gene. Because the entire CEP290 is too large for delivery by an adeno-associated virus, he is working to replace only the defective portion of the gene.

University of Florida – Dr. William Hauswirth
Dr. Hauswirth is developing a gene therapy based on an adeno-associated virus for Leber congenital amaurosis (GC1 mutations) in preparation for requesting authorization from the FDA to launch a clinical trial.
   
University of Florida – Dr. Shannon Boye           
Dr. Boye is developing a combination gene delivery system which involves subretinal delivery of corrective genes to the peripheral retina and intravitreal delivery of the treatment to the fovea (central retina). Intravitreal delivery is a safer and less invasive approach for gene delivery to the fovea, which can be made fragile by diseases such as Leber congenital amaurosis and achromatopsia.

Leiden University Medical College (Netherlands) – Dr. Jans Wijnholds
Dr. Wijnholds is developing and optimizing adeno-associated viral gene therapy systems for treating Leber congenital amaurosis and retinitis pigmentosa caused by mutations in the CRB1.

University of California, Berkeley – Dr. John Flannery
Dr. Flannery has worked with Dr. Wijnsholds to develop a gene therapy based on an adeno-associated virus (AAV) for Leber congenital amaurosis caused by mutations in CRB1.  The project aims to develop an AAV that can deliver the large DNA (CRB1) cargo.

Radboud University (Netherlands)– Dr. Anneke den Hollander
Dr. den Hollander is using next generation sequencing to identify new genes linked to Leber congenital amaurosis and autosomal recessive retinitis pigmentosa.

Radboud University (Netherlands) – Dr. Rob Collin
Dr. Collin is developing a gene correction technique that uses RNA molecules to 'patch' mutations in the CEP290 gene which otherwise leads to Leber congenital amaurosis

Radboud University (Netherlands) – Dr. Frans Cremers
Dr. Cremers is using whole-exome sequencing and other techniques to identify new genes linked to Leber congenital amaurosis (LCA), autosomal recessive forms of retinitis pigmentosa (RP), and cone-rod dystrophy.

University of Michigan – Dr. Debra Thompson
Dr. Thompson is conducting research to evaluate the feasibility of gene therapy for Leber congenital amaurosis caused by mutations in the gene RDH12.

Hadassah-Hebrew University Medical Center (Israel) – Dr. Dror Sharon
Dr. Sharon is conducting research to identify the most common retinal degeneration genes in the Israeli and Palestinian populations, and studying the mechanisms by which the genes cause the diseases.