Newsmakers

Ablation of the X-linked retinitis pigmentosa 2 (Rp2) gene in mice results in opsin mislocalization and photoreceptor degeneration. 

Read More >

UMMS experts: New gene therapy success holds promise for degenerative retinal diseases

January 22, 2014
“The incidence of choroideremia is about one in 50,000, whereas retinitis pigmentosa is a relatively more frequent disease that affects one in 3,000 to 4,000", said Hemant Khanna, PhD, assistant professor of ophthalmology. Read More >

Photoreceptor Sensory Cilium and Associated Disorders

2012
The primary cilium is a microtubule-based extension of the plasma membrane, which is present in almost all cell types. Ciliary microtubules extend from a basal body (or mother centriole), which docks at the apical membrane. Elegant studies have been carried out to determine the mechanism that regulates the docking of the mother centriole at the membrane for cilia formation. Read More >

Foundation Invests $2.4 Million in Eight New Sight-Saving Research Projects

August 6, 2012
Two new projects are focused on finding treatments for the most common type of Leber congenital amaurosis (LCA), a severe form of retinitis pigmentosa that causes blindness or severe vision loss at birth. Dr. Rob Collin, Radboud University in the Netherlands, and Dr. Hemant Khanna, University of Massachusetts Medical School, are both developing therapies for LCA caused by defects in the gene CEP290. Read More >

A “so cilia” network

March 26, 2012
Cilia are unique cellular organelles found in nearly all cell types. In recent years, the importance of these organelles has been highlighted by the discovery that mutations in genes encoding proteins related to cilia biogenesis and function cause a class of complex syndromes termed ciliopathies. Emerging evidence suggests interactions among the various ciliopathy-associated proteins, but the precise mechanisms by which these interactions generate functional networks have remained elusive. In this issue of the JCI, Rachel and colleagues have now clearly linked two ciliopathy-associated proteins (CEP290 and MKKS). Surprisingly, the effects of a hypomorphic disease-causing Cep290 allele were rescued by loss of MKKS function, suggesting that it might be possible to treat some ciliopathies by fine-tuning interactions within the expanding ciliary network. Read More >

New Animal Model of RP2-XLRP

Jan 12, 2012
New Animal Model Improves Understanding of XLRP Due to RP2 Mutations June 12, 2013 – Foundation-funded researchers have created a mouse model of X-linked retinitis pigmentosa (XLRP) caused by defects in the gene RP2 — an advancement that gives them a platform for learning more about the disease and developing potential therapies for future human studies. Results of the research were published in the journal Investigative Ophthalmology & Visual Science (IOVS). Read More >

preARVO 2012

ARVO 2012
Retina Ciliopathies: From Genes to Mechanisms and Treatment In recent years numerous mutations in genes encoding proteins involved in development, structure, function and maintenance of photoreceptor cilia have been linked to human disease. The preARVO 2012 satellite meeting will review the latest developments in retina ciliopathies including retinitis pigmentosa, Leber congenital amaurosis, and Usher/ Bardet-Biedl syndromes. We will focus on genes involved in intraflagellar transport, photoreceptor outer segment morphogenesis, molecular motors and novel animal models that closely mimic human ciliopathies. Main emphasis is on human/mouse genetics, next generation DNA sequencing, proteomics, biochemistry, and cell biology.
Read More >

Gene Therapy Cures Retinitis Pigmentosa in Dogs

Jan 23, 2012
Gene Therapy Cures Retinitis Pigmentosa in Dogs Jan. 23, 2012 — Members of a University of Pennsylvania research team have shown that they can prevent, or even reverse, a blinding retinal disease, X-linked Retinitis Pigmentosa, or XLRP, in dogs. Read More >