Health Linda Carroll NBC News contributor 21 hours ago A rare genetic mutation that disrupts the production of histamine may help researchers unravel the mystery that surrounds Tourette syndrome. The mutation discovered by Yale researchers can cause the kinds of tics and other abnormalities that are the hallmark of the syndrome, according to a study published Wednesday in the journal Neuron. Thus far the genetic anomaly has been discovered only in nine members of a single family: a father and all eight of his children who have both the mutation and Tourette syndrome. We know that Tourette is about 90 percent genetic, said study coauthor Dr. Christopher Pittenger, an associate professor of psychiatry and psychology at the Yale University School of Medicine and director of the Yale OCD research clinic. But its been incredibly hard to find any genetic abnormalities that cause the syndrome. We have proven that this gene really is the cause of Tourette in this family and also looked at some of its downstream effects. Courtesy Jeffrey Kramer Jeffrey Kramer and his three sons. Kramer and two of his grown-up sons have been living with Tourette for decades. Hes excited by the new findings, but realistic about … Continue reading →

(MENAFN - Muscat Daily) A Weill Cornell Medical College study that analysed the DNA of Qatar's native population has discovered genetic variations that could help doctors target interventions to reduce the prevalence of a variety of debilitating hereditary disorders Researchers at Weill Cornell Medical College in Qatar (WCMC-Q) and Weill Cornell Medical College in New York (WCMC-NY), working with colleagues from Cornell University in Ithaca and Hamad Medical Corporation, identified 37 genetic variants in 33 genes known to play causal roles in a total of 36 diseases, including such devastating conditions as cystic fibrosis, sickle cell anemia and muscular dystrophy. The study points the way to more comprehensive screening for a host of inherited diseases, which could significantly reduce their incidence. The project titled, 'Exome Sequencing Identifies Potential Risks Variants for Mendelian Disorders at High Prevalence in Qatar' sequenced the DNA of 100 Qatari nationals representing the three major ethnic subgroups of the country the Bedouin (termed Q1 for the purposes of the study), those of Persian-South Asian descent (Q2), and those of African descent (Q3). By analysing the individuals' exomes important sections of the DNA containing the code that is translated into proteins and comparing them to the genetic … Continue reading →

healthsection Health Topics A-Z Healthy Living Featured Conditions eHow Now eHow Health Surgeries & Operations Operations What Is Stem Cell Treatment? Bronwyn Timmons Based in Colorado, Bronwyn Timmons has been writing professionally since 2009. Her work has appeared on a variety of websites, covering topics such as career and education planning, wedding planning, home improvement, crafts and gardening. Timmons is pursuing her bachelor's degree in mortuary science. Stem cell research is on the rise, giving hope to patients and providing treatment for many diseases and disorders. While stem cell treatments are a fairly new science, they can have life-saving effects. Stem cell treatments consist of removing healthy regenerative cells from the patient and transplanting them into the affected area. This treatment helps repair and reverse a variety of conditions and diseases. Regenerative cells can be harvested from the patient's bone marrow, fat or peripheral blood. This is done to eliminate the risk of cell rejection in the patient. Typically, four to six treatments are administered depending on how the condition reacts to the stem cell treatment. Treatments are given over a period of seven to 12 days. Stem cell treatments are effective at treating autoimmune diseases, cerebral palsy, degenerative joint … Continue reading →