VERO BEACH, Fla.--(BUSINESS WIRE)-- Mount Sinai Innovation Partners(MSIP), part of the Icahn School of Medicine at Mount Sinai, has granted an exclusive license to Plexcera Therapeutics, LLC to commercially develop recombinant human acid ceramidase (rhAC) to treat diseases caused by genetic or disease-induced deficiencies in the enzyme rhAC. Mount Sinai is promoting the scientific discoveries of its faculty by facilitating the establishment and supporting incubator companies to accelerate the discovery of treatments for devastating diseases, including those that often affect relatively small populations. Plexcera was founded by Edward H. Schuchman, MPh, PhD, Genetic Disease Foundation - Francis Crick Professor of Genetics and Genomic Sciences at the Icahn School of Medicine, and Ivan Galanin, a pharma industry veteran and advisor to MSIP, in collaboration with QOL Medical, LLC, a specialty pharma company focused on rare pediatric diseases. Two devastating childhood diseases are caused by recessive inherited mutations in the gene encoding rhAC: Farber disease, characterized by severe joint pain, inflammation, and arthritis, and a form of spinal muscular atrophy with epilepsy (SMA-PME), found in adolescents and characterized by progressive muscle weakness. There is no therapy for either condition. In addition, in cystic fibrosis, excess ceramide accumulates in the lungs. Treatment with … Continue reading →

Holly has epilepsy, but the condition doesn't slow her down or limit her capacity to be a loving and loyal canine companion. Indeed, the cute 2-year-old Chihuahua, who weighs just 10 pounds, is a perfect little lap dog. She's very people-oriented and longs to make a special someone happy. SNIPSA volunteers discovered Holly at Animal Care Services. Charmed by her adorable ways, they rescued her, placed her in foster care and have been providing successful medical treatment. The SNIPSA veterinarian, pleased with the pooch's progress, recently gave a go-ahead for adoption, noting that all Holly needs now is daily epilepsy medication to keep seizures at bay. So, the search is on for the right adopter and permanent indoor home. An especially kind and responsible person is essential in Holly's case. Meds must be given without fail in order to maintain optimum health. The epilepsy meds aren't costly and are easy to administer. Holly's foster pet parent says the whole process quickly becomes a simple routine. And having Holly around will be a joy. The Chihuahua likes gentle, older children, gets along well with other dogs and is cat-safe. She quickly bonds with anyone who is good to her. You can … Continue reading →

NEW HAVEN, Conn. - Heres a frightening statistic: One in every 50 school children in the United States will be diagnosed with autism. Unfortunately, it can take doctors years to identify the disorder, delaying much-needed treatment, but a new research may help doctors predict a childs risk of developing autism at birth. Skiing alongside 12-year-old Jaya Dominici, you wouldnt know that shes severely autistic unless you try to talk to her. Maria Dominici suspected her daughter was autistic at 18 months, but she wasnt diagnosed until three. "It was really like a baseball bat right to the head, because you know its going to be forever," Dominici said. Early detection is critical because "the brain is completely unformed at birth. We can change behaviors very early," said Dr. Harvey J. Kliman, a research scientist in the department of obstetrics and gynecology at the Yale University School of Medicine. A new study examining the placenta, the organ that provides nutrients to the baby from the mother, may help doctors diagnose autism shortly after birth. Researchers analyzed placentas from 217 births and found that in families at high genetic risk for having an autistic child, there were more of these abnormal folds … Continue reading →

University scientists are key players in a new program aiming to advance autism research by creating a statewide registry of patients who have been diagnosed as on the spectrum. Spearheaded by the Rhode Island Consortium of Autism Research and Treatment, also known as RI-CART, the program gained funding through a variety of sources, including two recent grants totaling over $1 million. RI-CARTs mission is to improve the lives of Rhode Islanders with autism spectrum disorders by promoting collaborative, cutting-edge research, improving health care and support services and providing data-driven education and advocacy, according to the organizations website. The 14-member organization, including Brown University and Bradley Hospital, comprise an interdisciplinary group of researchers, physicians and educators. RI-CART currently has its sights set on creating a statewide registry of autism patients which researchers could use to learn more about the neurologic disorder, said Stephen Sheinkopf, co-director of RI-CART and assistant professor of psychiatry and human behavior and pediatrics. The registry will include patients demographic information, medical history, official diagnosis, severity of symptoms and even information biological samples, said Sheinkopf, whose research focuses on the early identification of autism in children. What this is going to allow us to do is to match … Continue reading →

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HIGHLAND PARK (CBSLA.com) A therapy for children with autism must be covered by public insurance companies, a California appeals court has ruled. Applied Behavior Analysis or ABA is a system in which every moment and action by the child is monitored and rewarded by the therapist on a one-to-one relationship for periods of 35, 40 hours a week, plaintiffs attorney Fred Woocher said. The case, brought by Consumer Watchdog andStrumwasser & Woocher LLP, sought to extend insurance coverage for the treatment to families with public health insurance. Insurers often deny claims involving applied behavior analysis, according to the lawsuit. Kate Moviuss son Aidan is among the children said to have benefited from the treatment. As a young child, her son cried almost all the time, he couldnt be in most public settings, said Movius. He wasnt a happy child. Now this is a kid who loves the supermarket, loves to go to concerts, loves crowds, she said. Movius attributes the dramatic change in part to ABA, which she said helped Aidan follow directions, allowing him to safely explore the world. Life with ABA has really given Aidan his freedom, she said. Movius said she spent years fighting with her health … Continue reading →