Tay Sachs Disease News and Research

Latest Tay Sachs Disease News and Research

Counsyl, ARUP partner to expand pregnancy genetic test offering for prospective parents

Counsyl has partnered with ARUP Laboratories, a nonprofit enterprise of the University of Utah, to expand its pre-pregnancy and early pregnancy genetic test offering for prospective parents. ARUP's molecular genetic testing laboratory already provides a comprehensive set of testing options for a broad range of inherited disorders.

28 Jan 2013

Statistical method uses evolutionary information to enhance identification of disease-associated alleles

A book containing misprints may cause annoyance for the reader, but typos in an individual's genetic blueprint (DNA) can mean serious disease or even death. The search for genetic correlates for the wide range of diseases plaguing humankind has inspired a wealth of research falling under the heading of genome-wide association studies (GWAS).

19 Jul 2012

New genetic testing technology for IVG embryos

Researchers at the Johns Hopkins University School of Medicine have devised a new technique, which helps couples that are affected by or are carriers of genetic diseases have in vitro fertilized babies free of both the disease in question and other chromosomal abnormalities. The results were reported in the April issue of Fertility and Sterility.

23 May 2011

Neurology professor receives MFRF's 'See the Light' award for Tay-Sachs research

Miguel Sena-Esteves, PhD, associate professor of neurology at the University of Massachusetts Medical School, was presented with the annual "See the Light" award from the Mathew Forbes Romer Foundation in recognition of his work for leading the fight against children's genetic diseases of the brain.

12 Jan 2011

New stem cell gene, enzyme replacement treatment for Tay-Sachs disease

StemCellRegenMed, Inc. announces that a new stem cell gene and enzyme replacement treatment has been performed on a fourteen month old child with Tay-Sachs disease on November 2, 2010. Tay-Sachs is a devastating disease that afflicts children primarily of parents of Jewish heritage and in very rare cases families of Eastern European background and the Cajun region in the U.S.A.

10 Nov 2010

Quest Diagnostics' Fragile X Syndrome test receives New York State health department approval

An accurate, faster testing option to identify female carriers and other patients with genetic abnormalities that cause Fragile X Syndrome is now available to physicians in all fifty states with the recent approval in New York. Fragile X is the leading cause of inherited mental retardation and the most common known single gene cause of autism.

From Quest Diagnostics 29 Jul 2010

Creator of California Tay-Sachs Disease Prevention Program among the honorees

A mere 40 years ago, parents didn't know they were carriers of the Tay-Sachs disease until after they'd given birth to a child with this fatal genetic disorder.

7 May 2010

Gene patenting policies affect patient access to testing for disease-causing genes: Study

Policies allowing genes to be patented can make it more difficult for patients to access testing for important disease-causing gene mutations, according to a series of papers in a special online supplement published by Genetics in Medicine, the official peer-reviewed journal of The American College of Medical Genetics.

7 May 2010

Pathway Genomics' personal Genetic Health Report now available

Pathway Genomics Inc., a U.S. based genetic testing company, announced the immediate availability of its personal Genetic Health Report. This customized and innovative personal genetic health report contains information on more than 70 health conditions, including pharmacogenetics (prescription medication response), propensity for complex disease, and carrier status (pre-pregnancy health).

17 Mar 2010

Determining personal risk for genetic disorders essential

Genetic diseases affect an estimated 12 million Americans, yet according to a survey of 1,000 people conducted by the Genetic Disease Foundation (GDF), while two-thirds of those surveyed were willing to and saw the benefits of undergoing genetic testing, close to 80 percent had never talked to their physician about genetic screening – an inconsistency that can have serious implications on a person's overall health and the health of their immediate family members.

1 Mar 2010

NYU professor conducts genetic screening at academic campuses in Boston

Dr. Harry Ostrer, professor of pediatrics, pathology and medicine at NYU Langone Medical Center will be conducting genetic screening at four college campuses in Boston on February 1st and 2nd. Individuals interested in being screened should sign- up online at www.med.nyu.edu/genetics.

28 Jan 2010

New technique to treat metabolic disorders in babies while still in the womb

Researchers say a new development in cord blood transplants for inherited metabolic disorders may be curative for some babies who are treated while still in the womb.

20 Oct 2009

NIH awards $3.5-million grant to Tay-Sachs Gene Therapy Consortium for research on fatal genetic disorders

In a victory for families who dug into their own pockets to fund new research, the National Institutes of Health has awarded a $3.5-million grant to the Boston-based Tay-Sachs Gene Therapy Consortium to prepare a gene therapy for human clinical trials in a bid to halt the fatal genetic disorder.

28 Aug 2009

Carrier screening for spinal muscular atrophy should be offered to all couples

Carrier screening for spinal muscular atrophy (SMA) - a serious genetic disease affecting approximately 1 in 10,000 infants that causes progressive muscle weakness and death - should be made available to all families, according to a new practice guideline issued by the American College of Medical Genetics (ACMG).

10 Dec 2008

One injection of gene therapy spreads through brain in animal study

By targeting a site in a mouse brain well connected to other areas, researchers successfully delivered a beneficial gene to the entire brain - after one injection of gene therapy.

9 Oct 2007

Stem cells delay neurodegeneration in the brain

Sufferers from devastating neurodegenerative diseases have been given some hope by the results of recent research.

12 Mar 2007

Prenatal diagnostic tests have low risk of miscarriage

Pregnant women who seek prenatal diagnostic testing to identify genetic or chromosomal abnormalities have a lower risk of miscarriage than previously believed, according to a UCSF study.

31 Aug 2006

Infants with Krabbe disease saved by cord blood stem cells

Children with a fatal genetic disorder called Krabbe Disease can be saved and their brain development preserved if they receive stem cells from umbilical cord blood before symptoms of the disease develop, according to a study published in the current issue of the New England Journal of Medicine.

20 May 2005