ACE tRNA Treatments & Nonsense Mutations

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.

Epilepsy Statistics in the US

Warren B. Lammert is the founder, chief investment officer, and portfolio manager of Granite Point Capital in Boston, Massachusetts, as well as the chairman of Aurora, Colorado’s Cerebral Therapeutics. Warren Lammert also draws on his extensive knowledge of epilepsy from a variety of roles such as a former member of the board of directors with the Epilepsy Foundation, co-founder of Epilepsy.com and more recently, as member of the board of directors with FACES (Finding a Cure for Epilepsy and Seizures at NYU).

Epilepsy is a neurological disorder that, without medical intervention, can lead to recurrent seizures that impact various parts of the brain. Epilepsy is a relatively common condition in the United States.

Research indicates that an estimated 1.2 percent of Americans live with an active epileptic disorder. This translates to 3.4 million individuals throughout the country, in addition to more than 65 million people around the world living with the condition. Roughly one in 26 people will experience epilepsy at some point in their lives, and the first seizure can come at any time. Medical professionals have diagnosed infants under the age of 2 with epilepsy, while others can live over 65 years before their first seizure.

In America, approximately 470,000 of the more than 3 million epilepsy cases involve children. Between 30 and 40 percent of children living with epilepsy have the disease but do not experience seizures. One in five children live with an intellectual disability, while as many as 50 percent have a specific learning disability. Only a small number of American children with epilepsy experience severe neurological conditions like cerebral palsy.