Battle against nerves: Neurofibromatosis can leave some sufferers with bumps where tumors attack nerves Aug 27, 2008
Lancaster and Leaf are among an estimated 100,000 Americans with NF. According to the Children s Tumor Foundation, an advocacy group, this makes the condition more prevalent than cystic fibrosis, hereditary muscular dystrophy, Huntington s disease and Tay-Sachs disease combined. There is no cure for any of the three subtypes of NF. But surgeons can remove tumors when they become painful or threaten normal bodily functions, such as vision and movement. (Racine Journal Times, WI)
Isaiah's family knows time is precious Mar 2, 2008
Later, the ophthalmologist would tell them he saw what no eye doctor ever wishes to see: cherry red spots on the retina, a tell-tale sign of a progressive, fatal genetic disorder that affects the neurological system, called Tay-Sachs disease. What is Tay-Sachs disease. (The Examiner)
Firm proves its stem cell work won't destroy embryos Jan 12, 2008
For more than a decade, clinics have also extracted single cells from the very early embryo when clients want them screened for genetic illnesses such as cystic fibrosis and Tay-Sachs disease. If the single cell tests negative for the disorder, the remaining embryo is implanted. (San Francisco Chronicle)
Get the backstory on genetic diseases Nov 29, 2007
For example, thalassemias are more likely to appear in people of Mediterranean origin, sickle-cell anemia in those of African descent, and Tay-Sachs disease in the Ashkenazi Jewish population. The genetic component of some diseases, such as breast cancer, has been well-catalogued and publicized in the media. (Daily Iowan, IA)
One Shot Of Gene Therapy Spreads Through Brain In Animal Study Oct 11, 2007
If these results in animals can be realized in people, researchers may have a potential method for gene therapy to treat a host of rare but devastating congenital human neurological disorders, such as Tay-Sachs disease ... Other examples of lysosomal storage diseases are Tay-Sachs disease, Hunter disease and Pompe disease. (Science Daily)
Researchers discover new strategies for antibiotic resistance Aug 30, 2007
LA BioMed researchers have invented the modern cholesterol test, the thyroid deficiency test and a test to determine the carriers of Tay-Sachs disease, an inherited fatal disorder. One of the institutes researchers also developed the paramedic model for emergency care, setting a precedent that transformed emergency medical services and became the basis for training paramedics across the country. (EurekAlert!)
Cougars do it the hard way Jul 24, 2007
Rochman is leaving softball so he'll have more time to devote to his vineyard in Makanda and raise money to combat Tay-Sachs Disease. His 2 1/2-year-old granddaughter is suffering from the disease. (Pekin Times, IL)
Part 2: Baby-making at a crossroads Jun 14, 2007
Baby-making at a crossroads - BabyQuest - MSNBC.com. Baby-making at a crossroads. (MSNBC -- Health)
Monkey genes help us see what makes us human Apr 13, 2007
Jumping genes can cause inherited high cholesterol, also called familial hypercholesterolemia, breast cancer, hemophilia, and Tay-Sachs disease. "Who cares if a macaque has hypercholesterolemia, right? What we do care about is, hey, we have got these things in our own genomes that are constantly causing new mutations. Why are they doing it and how do we stop them?" Batzer asked. (Scientific American)
Human stem cells stalled brain disease in mice Mar 14, 2007
It is similar to Tay-Sachs disease, and there is no treatment for either Tay-Sachs or Sandhoff. The use of human embryonic stem cells is controversial because some people believe it is wrong to destroy human embryos in experiments. (MSNBC -- Health)
Mouse tests show stem cells treat brain disease Mar 12, 2007
It is similar to Tay Sachs disease, and there is no treatment for either Tay-Sachs or Sandhoff. MORE SCIENCE NEWS. (Scientific American)
Study on mice is successful, Burnham says Mar 12, 2007
Children with Sandhoff, a form of Tay-Sachs disease, are deficient in an enzyme that helps the body metabolize lipids, a fatty material. A buildup of lipids destroys brain cells that control and coordinate body movement and leads to the deterioration of the brain and spinal cord. (San Diego Union-Tribune -- Business)
Stem cells act through multiple mechanisms to benefit mice with neurodegenerative disease Mar 12, 2007
The mouse used here has mutation in a gene that makes the housekeeping enzyme hexosaminidase ("hex") deficient and, therefore, has Sandhoff's Disease, a lethal genetic disease related to Tay-Sachs Disease. When stem cells were implanted -- at simply one time point -- into brains of newborn Sandhoff mice, the onset of symptoms was delayed, well-being and motor function was preserved, and lifespan was extended by >70. (EurekAlert!)
/R E P E A T/ - A common, but poorly understood disorder stigmatizes and isolates patients - Raises awareness about Neurofibromatosis Feb 9, 2007
Despite the fact that this genetic disorder is as common as cystic fibrosis and more common than muscular dystrophy, Huntington's Disease and Tay-Sachs disease combined, the general public knows little about NF. It is estimated that NF1 occurs in one in every 3,000 births and NF2 occurs in one in every 40,000 births. L'Association de la Neurofibromatose du Qu;bec and The Montreal Children's Hospital want to shed some light on neurofibromatosis. (Canada Newswire)
Let Me Live Death sentence for baby boy Feb 9, 2007
Dylan Dicks, who is just eight months old, has been diagnosed with the fatal Tay-Sachs disease ... Tay-Sachs disease is a genetic disorder that causes destruction of nerve cells and the spinal chord, eventually leading to blindness, paralysis and death. (Sky News)
Ethnic Differences Traced to Variable Gene Expression Jan 11, 2007
Tay-Sachs disease seems to favor Jews of Eastern European descent. Cystic fibrosis has an affinity for Caucasians. (Scientific American)
Genetic expression speaks as loudly as gene type Jan 8, 2007
Cystic fibrosis disproportionately affects Caucasians, for example, and Tay-Sachs disease tends to be more prevalent among Ashkenazi Jews, French Canadians, and other groups. "What's relevant to me is what light this might shed on medical differences," Spielman says. (Nature News Service)
Mark O'Brien: Small boy stalked by disease that he cannot survive Dec 8, 2006
Within a couple weeks, the diagnosis came back: Tay-Sachs disease. "I said, 'What's that?' " Blocker said. (Pensacola News Journal)
Parents raise awareness of disease that took their child Nov 29, 2006
Rare, degenerative Tay-Sachs disease stole Conner Hopf's ability to see and hear and, eventually, to move before he died quietly at home Sunday, two months before his second birthday. Conner's family and friends will remember his short life and his bright smile today at a Mass at St. Augustine Roman Catholic Church in Elkridge, followed by a gathering at the family's home. (SunSpot.net)
Outcry as clinic offers 'designer baby' embryo screening for 200 diseases... Nov 13, 2006
They include Fragile X Syndrome, Cystic Fibrosis, Diamond Blackfan, Krabbe's disease, Sickle Cell, Tay-Sachs disease and Marfan Syndrome. So far six patients have had the 6,000 technique now being provided by Dr Simon Fishel and his team at the Nottingham-based CARE Fertility - half of them with NHS funding. (The Drudge Report)
Pill cure claims draw investigation by state Oct 29, 2006
The company was sued in California in 2004 for fraud and invasion of privacy by the mother of a child who died of Tay-Sachs disease and whose photograph was used to promote Mannatech products. The child died in 1997 after using the products, but Mannatech distributors kept using the photo until 2004 despite the mother's requests to halt the marketing campaign. (Houston Chronicle)
New study warns against linking ethnic identity to breast cancer genes Oct 27, 2006
Researchers had previously found a high prevalence of a mutation causing Tay-Sachs disease in Ashkenazi Jews. Within 20 years, one-million Jews around the world had been tested for the mutation, and scientific institutions had created large repositories of genetic samples that could then be screened for the genetic mutations associated with breast cancer--but only in Ashkenazi Jews. (EurekAlert!)
Genes don't drive racial health gap Sep 26, 2006
Some diseases are clearly genetic -- cystic fibrosis in whites, sickle cell disease in blacks, Tay-Sachs disease in Ashkenazi Jews. More often, though, diseases -- such as depression and diabetes, alcoholism and asthma -- are caused by a complex relationship of genes, environment, culture and behavior. (Akron Beacon Journal)
Tay-Sachs: Genetic disease affecting more babies not thought to be at high risk Sep 21, 2006
Members of the Rick and Lisa Wivell family gathered at the Emmitsburg Memorial Cemetary on Labor Day to remember Lacie Ann Wivell, who died at the age of 18 months of Tay-Sachs disease ... In Lacie's memory, the family is sponsoring a walk to raise education and research money for Tay-Sachs disease ... Their daughter had Tay-Sachs disease and would be lucky to live until she was 5. (Frederick News-Post)
Experts rip Rove stem cell remark Jul 20, 2006
One of the scientists on Prentice's list is Dr. Joanne Kurtzberg, a pediatric hematologist at Duke University Medical Center who has used umbilical cord blood to treat Tay-Sachs disease and other rare disorders. Kurtzberg said it's wrong to see stem cell science as a competition with only one winner. (FOX59, IN)
Stem-cell studies are past political discussions Jul 20, 2006
In human trials, investigators could implant stem cells into cancer patients who developed brain tumors, children with Tay-Sachs disease or adults enduring Lou Gehrig's disease. "There's a lot of tricky stuff happening that has nothing to do with the moral status of the embryo," said Henry Greely, a law professor and director of the Stanford Center for Law and the Biosciences, who has written about the various issues. (AZCentral -- News)
Leaving stem cell politics behind Jul 20, 2006
In human trials, investigators could implant stem cells into cancer patients who developed brain tumors, children with Tay Sachs disease or adults enduring Lou Gehrig's disease. "In all the trials we've done, we've spent hundreds of hours thinking about" scientific and ethical issues such as which cells to use and which patients to involve, said Dr. Doug Kondziolka. (SunSpot.net)
Sperm donor passed rare disease to 5 kids May 20, 2006
Sperm donors are routinely screened for more prevalent genetic disorders like cystic fibrosis, Tay-Sachs disease and sickle cell anemia, but not for rare genetic diseases. It was not clear whether the sperm donor in this case knew he was a carrier. (MSNBC -- Health)
Testing for Jewish genetic diseases u... May 2, 2006
She said she recently learned that her sister is a carrier of Tay-Sachs disease, the most notorious Jewish hereditary disease. One in 25 Ashkenazi Jews is a carrier. (Frederick News-Post)
Free Tay-Sachs carrier screenings to be held at USTC Apr 21, 2006
The Manning's founded DJ's Foundation for Tay-Sachs Disease in 2003 to promote awareness and provide funding for a treatment or cure for the terminal illness. As part of their goal, DJ's Foundation and the National Tay-Sachs d Diseases of Delaware Valley (NTSAD-DV) are offering free Tay-Sachs carrier screenings at United Sports Training Center in Downingtown May 11 from 6 to 8 p.m. "We're just trying to get a great response," said Brian Manning. (Downingtown Ledger, PA)
Medical ethics and Baby MB Mar 16, 2006
In some cases, the condition is so uncontroversially awful that the judgement will be relatively straightforward, as in some cases of Tay Sachs disease, a fatal, incurable genetic condition that progressively destroys the central nervous system. At that end of the continuum, where the disease and its symptoms are irreversibly ghastly, the doctors must surely be permitted to withdraw life-sustaining treatment, even against the parents' wishes. (BBC News -- UK)
sometimes takes a touch of science Mar 13, 2006
Jacob's parents, Wendy and Chris Baker of Rock Hill, sought the procedure because they are both carriers of a gene for Tay-Sachs disease, a recessive and fatal genetic disorder that causes severe deterioration of mental and physical abilities. Most children with Tay-Sachs die before the age of 4. (Herald Online, SC)
Lions, Tigers and DNA, Oh My Jan 10, 2006
The genetic roots of disease, O'Brien recalled, were unknown except for a few obvious suspects that targeted specific ethnic groups, like Tay-Sachs disease and sickle-cell anemia. And few, if any, people thought that Fido and Fluffy might hold keys to human illness. (Wired News)
