KAIST researchers have discovered that brain somatic mutations in the MTOR gene induce intractable epilepsy and suggest a precision medicine to treat epileptic seizures. IMAGE:A schematic image shows how to detect brain specific mutations using next-generation sequencing technology with blood-brain paired samples. Simple comparison of non-overlapping mutations between affected and unaffected tissues is able... view more Credit: KAIST Daejeon, Republic of Korea, March 23, 2015 - Epilepsy is a brain disorder that afflicts more than 50 million people worldwide. Many epilepsy patients can control their symptoms through medication, but about 30% suffer from intractable epilepsy and are unable to manage the disease with drugs. Intractable epilepsy causes multiple seizures, permanent mental, physical, and developmental disabilities, and even death. Therefore, surgical removal of the affected area from the brain has been used as a treatment for patients with medically refractory seizures, but this too fails to provide a complete solution because only 60% of the patients who undergo surgery are rendered free of seizures. A Korean research team led by Professor Jeong Ho Lee of the Graduate School of Medical Science and Engineering at the Korea Advanced Institute of Science and Technology (KAIST) and Professor Dong-Seok Kim of the Epilepsy Research … Continue reading →

Studies are under way to test the effectiveness of a marijuana extract that has been hailed as a wonder drug by some parents whose children suffer severe forms of epilepsy. But as initial findings from several researchers trickle in, the results are proving mixed. A dozen states in the past year, including Florida and Kentucky, have legalized the substancecannabidiol, or CBDdespite a lack of hard evidence of its effectiveness in controlling seizures. Another nine states are weighing CBD legislation. Some of the bills have been named after children in those states with severe epilepsy and whose families were desperate for an alternative after trying other medications that failed. The early research results show that while some children appeared to improve after taking CBD, others didnt respond, or even worsened. Doctors say the findings underscore the need for more research on the extract. CBD also has been studied as a potential treatment for other conditions, including schizophrenia and anxiety. We dont have enough data at this point to recommend marijuana products for families, said Kevin Chapman, a neurologist at Childrens Hospital Colorado, outside of Denver, and co-author of a study released at an American Epilepsy Society meeting in December. Most of … Continue reading →

Epilepsy is a brain disorder that afflicts more than 50 million people worldwide. Many epilepsy patients can control their symptoms through medication, but about 30% suffer from intractable epilepsy and are unable to manage the disease with drugs. Intractable epilepsy causes multiple seizures, permanent mental, physical, and developmental disabilities, and even death. Therefore, surgical removal of the affected area from the brain has been used as a treatment for patients with medically refractory seizures, but this too fails to provide a complete solution because only 60% of the patients who undergo surgery are rendered free of seizures. A Korean research team led by Professor Jeong Ho Lee of the Graduate School of Medical Science and Engineering at the Korea Advanced Institute of Science and Technology (KAIST) and Professor Dong-Seok Kim of the Epilepsy Research Center at Yonsei University College of Medicine has recently identified brain somatic mutations in the gene of mechanistic target of rapamycin (MTOR) as the cause of focal cortical dysplasia type II (FCDII), one of the most important and common inducers to intractable epilepsy, particularly in children. They propose a targeted therapy to lessen epileptic seizures by suppressing the activation of mTOR kinase, a signaling protein in … Continue reading →

Surprising observation leads parent to collaboration with researchers to organize first scientific conference and special issue of scientific journal on the role of gut bacteria in autism Dallas, TX (March 24, 2015) - John Rodakis, the parent of a child with autism was not looking to launch an international investigation into the microbiome (the collection of microorganisms that live on and in us) and autism, but, as he describes in his newly published article in the scientific journal Microbial Ecology in Health and Disease, when his young son's autism unexpectedly and dramatically improved while taking an antibiotic for strep throat, he began a quest to understand why. Following the surprise improvement, Mr. Rodakis, who in addition to being a parent is also a medical venture capitalist with a background in molecular biology and a Harvard MBA, began to examine the medical literature where he found a lone study from 1999 conducted at Chicago Rush Children's hospital that documented a similar phenomenon in autistic children. After speaking with other parents and clinicians he discovered that improvements on antibiotics such the one his son experienced were frequently observed, but not well studied. "I was determined to understand what was happening in the … Continue reading →

Contact Information Available for logged-in reporters only Newswise Dallas, TX (March 24, 2015) John Rodakis, the parent of a child with autism was not looking to launch an international investigation into the microbiome (the collection of microorganisms that live on and in us) and autism, but, as he describes in his newly published article in the scientific journal Microbial Ecology in Health and Disease, when his young sons autism unexpectedly and dramatically improved while taking an antibiotic for strep throat, he began a quest to understand why. Following the surprise improvement, Mr. Rodakis, who in addition to being a parent is also a medical venture capitalist with a background in molecular biology and a Harvard MBA, began to examine the medical literature where he found a lone study from 1999 conducted at Chicago Rush Children's hospital that documented a similar phenomenon in autistic children. After speaking with other parents and clinicians he discovered that improvements on antibiotics such the one his son experienced were frequently observed, but not well studied. "I was determined to understand what was happening in the hope of helping both my son and millions of other children with autism." The Father's quest led him to world-renowned … Continue reading →