PUBLIC RELEASE DATE: 8-Jul-2014 Contact: Gina DiGravio gina.digravio@bmc.org 617-638-8480 Boston University Medical Center Boston University School of Medicine (BUSM) received major funding from the National Institute on Aging (NIA) as part of a national effort to identify rare genetic variants that may protect against and contribute to Alzheimer's disease risk. The four-year, $3 million grant, "Identifying Risk and Protective Variants for AD Exploring their Significance and Biology" is led by Sudha Seshadri, MD, professor of neurology at BUSM and a Senior Investigator at the Framingham Heart Study and for the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium. This project is linked to CHARGE projects at two other universities which all together received grants totaling more than $10 million. Other BU investigators who are part of the CHARGE project are Anita DeStefano, PhD, Adrienne Cupples, PhD, and Josee Dupuis, PhD, who are professors of biostatistics, and Honghuang Lin, PhD, assistant professor of medicine. "As a neurologist treating patients with Alzheimer's disease, it is very exciting to see the increased recognition, at a national level, of the need to find more effective preventive and therapeutic measures," said Seshadri. Alzheimer's disease, a progressive neurodegenerative disorder, has become an epidemic … Continue reading →

PUBLIC RELEASE DATE: 8-Jul-2014 Contact: David Slotnick newsmedia@mssm.edu 212-241-9200 The Mount Sinai Hospital / Mount Sinai School of Medicine (NEW YORK July 8, 2014) Key genetic variants may affect how cancer patients respond to radiation treatments, according to a study published this week in Nature Genetics. The research team, which included researchers at the Icahn School of Medicine at Mount Sinai, found that variations in the TANC1 gene are associated with a greater risk for radiation-driven side effects in prostate cancer patients, which include incontinence, impotence and diarrhea. The current results are based on a genome-wide association study, a type of study in which researchers examine numerous genetic variants to see if any of them are associated with a certain type of complication, which could sometimes emerge years after treatment was completed. "Our findings, which were replicated in two additional patient groups, represent a significant step towards developing personalized treatment plans for prostate cancer patients," said Barry S. Rosenstein, PhD, Professor, Radiation Oncology, Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, the lead Mount Sinai investigator on the study. "Within five years, through the use of a predictive genomic test that will be created using the data … Continue reading →

PUBLIC RELEASE DATE: 8-Jul-2014 Contact: Lucia Lee newsmedia@mssm.edu 212-241-9200 The Mount Sinai Hospital / Mount Sinai School of Medicine Two genetic mutations in liver cells may drive tumor formation in intrahepatic cholangiocarcinoma (iCCA), the second most common form of liver cancer, according to a research published in the July issue of the journal Nature. A team led by the Icahn School of Medicine at Mount Sinai and Harvard Medical School has discovered a link between the presence of two mutant proteins IDH1 and IDH2 and cancer. Past studies have found IDH mutations to be among the most common genetic differences seen in patients with iCCA, but how they contribute to cancer development was unknown going into the current effort. iCCA strikes bile ducts, tube-like structures in the liver that carry bile, which is required for the digestion of food. With so much still unknown about the disease, there is no first-line, standard of care and no successful therapies. "iCCA is resistant to standard treatments like chemotherapy and radiation," said Josep Maria Llovet, MD, Director of the Liver Cancer Program, Division of Medicine, Icahn School of Medicine at Mount Sinai, and contributing author. "Understanding the molecular mechanism of the disease is … Continue reading →

A young paraplegic woman who underwent spinal stem cell therapy developed a growth in her back made up of nasal cells eight years later. The team from the University of Iowa Hospitals and Clinics that removed and investigated the growth has reported the anomaly in a paper published in the Journal of Neurosurgery: Spine. Although the case is a rare occurrence (the first of its kind, that we know of) the authors admit this may simply be because patients that undergo therapy are not monitored long enough, and either way it provides ample evidence attesting to our lack of understanding around programming and controlling stem cell proliferation and differentiation post-transplant. Human trials for this type of therapy are still at the very early stages, but animal trials have had some promising results. Several different types of cells have been experimented with for implantation including schwann cells (these surround nerves and sometimes grow on the spinal cord post-injury), foetal neural cells (with successes in rat studies) andnasal olfactory ensheathing cells (these are extracted from the lining of the nose and were the ones used in this particular case study). The patient in question was just 18 years old when she suffered … Continue reading →

A woman in the US has developed a tumour-like growth eight years after a stem cell treatment to cure her paralysis failed. There have been a handful of cases of stem cell treatments causing growths but this appears to be the first in which the treatment was given at a Western hospital as part of an approved clinical trial. At a hospital in Portugal, the unnamed woman, a US citizen, had tissue containing olfactory stem cells taken from her nose and implanted in her spine. The hope was that these cells would develop into neural cells and help repair the nerve damage to the woman's spine. The treatment did not work far from it. Last year the woman, then 28, underwent surgery because of worsening pain at the implant site. The surgeons removed a 3-centimetre-long growth, which was found to be mainly nasal tissue, as well as bits of bone and tiny nerve branches that had not connected with the spinal nerves. The growth wasn't cancerous, but it was secreting a "thick copious mucus-like material", which is probably why it was pressing painfully on her spine, says Brian Dlouhy at the University of Iowa Hospitals and Clinics in Iowa City, … Continue reading →