In addition to his roles as founder, chief investment officer, and portfolio manager at Granite Point Capital and chairman of Cerebral Therapeutics, Warren B. Lammert previously served on the board of directors with Landover, Maryland’s Epilepsy Foundation. He is a current member of the board of directors with FACES (Finding a Cure for Epilepsy and Seizures at NYU). Since founding Epilepsy.com in 2001, Warren Lammert has remained abreast of the latest medical developments, including research into inherited diseases.
An abstract from the 2020 Association for Research in Vision and Ophthalmology (ARVO) Annual Meeting has been published in Investigative Ophthalmology & Visual Science (IOVS), the official ARVO journal. Researchers including Pawan Shahi and Bikash R. Pattnaik focused their work on the 10 to 15 percent of inherited diseases contracted as a result of nonsense mutations.
Nonsense mutations result in an abridged protein that can cause a number of severe pathological outcomes. For example, a nonsense mutation of gene KCNJ13, or the Kir7.1 protein, has been linked to the development of autosomal recessive Leber congenital amaurosis.
Despite many limitations, the response to nonsense mutations have largely involved genome editing, gene augmentation, and a few read-through drug options. The study published in IOVS, however, found that a complex ACE-tRNA treatment allowed for the development of a full-size Kir7.1 protein. Considering the fact that ACE-tRNA treatments must be code specific, scientists can design specific treatments for nonsense mutations impacting other proteins.
The complete abstract can be read online at iovs.arvojournals.org.