Latest Tay-Sachs disease Stories

McMaster University A team of researchers has made a significant discovery which may have a dramatic impact on children stricken with Tay-Sachs disease, a degenerative and fatal neurological condition that often strikes in the early months of life. Available drugs may dramatically ease a child's suffering, say scientists. "There is hope for this disease," says Suleiman Igdoura, lead researcher of the study and an associate professor of biology at McMaster University. "Imagine what...

Lawrence LeBlond for redOrbit.com - Your Universe Online Perfection is something that all humans strive for at one time or another, be it scoring a perfect 100 on a test, making the perfect soufflé, having the perfect play in basketball, or even landing the perfect job. For others, perfection is a state of well-being—as in being perfectly healthy. While achieving perfect health may be plausible in sense of how one feels, new research shows that, at the genetic level, nobody will ever be...

Researchers from Mount Sinai School of Medicine have discovered 5 new genetic mutations associated with Crohn's disease in Jews of Eastern European descent, often referred to as Ashkenazi Jews Researchers from Mount Sinai School of Medicine have discovered five new genetic mutations associated with Crohn's disease in Jews of Eastern European descent, often referred to as Ashkenazi Jews. The findings, published in PLoS Genetics, are the first step in an attempt to explain why the prevalence...

PHILADELPHIA, Feb. 16, 2012 /PRNewswire-USNewswire/ -- The Victor Center for the Prevention of Jewish Genetic Diseases at Einstein Medical Center in Philadelphia has been at the forefront of screening, education and genetic counseling regarding the 19 diseases that have a high carrier rate in the Ashkenazi Jewish population, or those whose ancestors are from Central and Eastern Europe. The goal is to provide individuals who are carriers with the knowledge to prevent these...

ATLANTA, Feb. 9, 2012 /PRNewswire/ -- On February 26 and 27, a two-day community-wide screening for potential carriers of 19 Jewish genetic diseases will be conducted at The Temple, located at 1589 Peachtree St., NE, in Atlanta. On Feb. 26, it will be held from 9:00 AM - 1:00 PM; on Feb. 27, the hours are from 9:00 AM - 12 noon. The first five registrants for each day will receive a free screening. The maximum out of pocket cost for insured individuals screened at AJGS...

PHILADELPHIA, Feb. 9, 2012 /PRNewswire/ -- On February 20, 2012, the Victor Center for the Prevention of Jewish Genetic Diseases at Einstein Medical Center in Philadelphia will conduct a community-wide screening for potential carriers of 19 Jewish genetic diseases from 10:00 AM - 3:00 PM at MossRehab at the Marketplace Design Center, located at 2400 Market Street in Philadelphia. The maximum out-of-pocket cost for insured individuals screened is $25, a significant fee reduction...

--The Children's Hospital of Philadelphia Will Create Long-Term Clinical Data Resource for Medical Researchers -- PHILADELPHIA, Jan. 17, 2012 /PRNewswire-USNewswire/ -- Within the first days of life, screening tests are performed on all newborns born in the U.S. to identify rare and often life-threatening medical conditions that are not apparent at birth. These newborn screening programs have been operating for decades, permitting doctors to intervene early and improve outcomes...

PHILADELPHIA, Nov. 15, 2011 /PRNewswire/ -- When planning a wedding, couples often make a checklist that includes choosing a rabbi or other officiant, selecting a date, deciding on a location, menu, music, flowers, photographer, rings, a dress, and compiling a guest list. According to the Victor Center for the Prevention of Jewish Genetic Diseases at Einstein Medical Center in Philadelphia, before they break the glass, a couple with at least one Jewish partner should also consider...

PITTSBURGH, Oct. 24, 2011 /PRNewswire-USNewswire/ -- On November 14, 2011, a community-wide screening for potential carriers of 19 Jewish genetic diseases will be conducted from 12:00 noon - 6:00 PM at the Hillel Jewish University Center, located at 4607 Forbes Avenue in Pittsburgh. Individuals must be pre-registered at www.victorcenters.org/screening/pittsburgh to determine insurance costs, costs not covered by insurers, and level of financial support. The screening is coordinated by The...

ORLANDO, Fla., Oct. 18, 2011 /PRNewswire/ -- Good Start Genetics, an innovative molecular diagnostics company developing the new gold standard for routine carrier screening in clinical practice, will announce later today positive results of a validation study of its proprietary next-generation DNA sequencing platform. In the study, to be presented at the annual meeting of the American Society for Reproductive Medicine, Good Start Genetics' sequencing test accurately...