Tay-Sachs Disease
I can roar all I want about the unfairness of this ridiculous disease, but the facts remain - Emily Rapp
image by: Cure Tay-Sachs Foundation - CTSF
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Notes From a Dragon Mom
My son, Ronan, looks at me and raises one eyebrow. His eyes are bright and focused. Ronan means “little seal” in Irish and it suits him.
I want to stop here, before the dreadful hitch: my son is 18 months old and will likely die before his third birthday. Ronan was born with Tay-Sachs, a rare genetic disorder. He is slowly regressing into a vegetative state. He’ll become paralyzed, experience seizures, lose all of his senses before he dies. There is no treatment and no…
Resources
First patient dosed in clinical trial of gene therapy for Tay-Sachs and Sandhoff diseases
Sio Gene Therapies, a company focused on developing gene therapies to radically transform the lives of patients with neurodegenerative diseases, announced that the first patient with infantile Tay-Sachs disease has been dosed in a Phase I/II trial evaluating AXO-AAV-GM2, an investigational gene therapy for the treatment of GM2 gangliosidosis, which causes Tay-Sachs and Sandhoff diseases.
Study Looks at Irish Risk for a Rare Fatal Disease
Tay-Sachs disease is generally known as a Jewish genetic disorder. Now, researchers are beginning to focus on another community at risk: people of Irish descent.
Suffer the Little Children
Emily Rapp’s memoir about her dying son fascinates us. Why?
Tay-Sachs Disease Information Page
Tay-Sachs disease is an inherited metabolic disease caused by the harmful buildup of lipids (fatty materials such as oils and acids) in various cells and tissues in the body. It is part of a group of genetic disorders called the GM2 gangliosidoses.
Think Like a Doctor: Taking a Stand
A 23-year-old woman slowly becomes so weak that she has difficulty getting up out of a chair. Strangely so does her twin. Can you figure out why?
We Can Now Edit Single ‘Letters’ of DNA
Errors in the replication process do occur. It's fortunate this happens—these errors are the source of the genetic diversity that we see in nature—but from the perspective of human health, these mistakes can have very serious consequences, including debilitating illnesses like Tay-Sachs disease, sickle cell anemia, and cystic fibrosis.
Why we should be worried about gene-carrier screening
Pre-conception genetic screening (testing for “carrier status” before pregnancy) has usually only been available to couples already known to be at risk of a particular disease. Ashkenazi Jews, for example, are most likely to be carriers of the mutated HEXA gene linked to Tay-Sachs disease, a fatal genetic disorder. Screening for the HEXA mutation is therefore recommended for all Ashkenazi Jews planning children. Today, though, genome sequencing is more affordable and accessible than ever before.
Notes From a Dragon Mom
Ronan was born with Tay-Sachs, a rare genetic disorder. He is slowly regressing into a vegetative state. He’ll become paralyzed, experience seizures, lose all of his senses before he dies. There is no treatment and no cure.
Cure & Action for Tay-Sachs (CATS) Foundation
At The CATS Foundation our objective is to make sure that no family affected by Tay-Sachs or Sandhoff disease feels isloated after a diagnosis.
Cure Tay-Sachs Foundation
The Cure Tay-Sachs Foundation is dedicated to funding the on-going research needed to find treatments and a cure for Tay-Sachs Disease. Once the cure for Tay-Sachs has been found - and we will find it! - we will dedicate our efforts to promoting carrier-testing and Tay-Sachs awareness initiatives.
National Tay-Sachs & Allied Diseases Association
Today, NTSAD is recognized as a leading non-profit patient group with a demonstrated commitment to service, science and support. NTSAD gives help and hope to thousands of individuals and families from many backgrounds and ethnicities who have been or are affected by Tay-Sachs, Canavan and related genetic diseases all over the world.
Jewish Genetic Disease Consortium
The Jewish Genetic Disease Consortium (JGDC) increases awareness about Jewish genetic diseases and encourages timely and appropriate carrier screening for all persons who have any Jewish ancestry, as well as couples of mixed heritage
GARD
The diagnosis of Tay-Sachs disease involves a blood test that detects absent or very low levels of beta-hexosaminidase A enzyme activity.
Genetics Home Reference
The most common form of Tay-Sachs disease becomes apparent in infancy. Infants with this disorder typically appear normal until the age of 3 to 6 months, when their development slows and muscles used for movement weaken. Affected infants lose motor skills such as turning over, sitting, and crawling.
NORD
Tay-Sachs disease is a rare, neurodegenerative disorder in which deficiency of an enzyme (hexosaminidase A) results in excessive accumulation of certain fats (lipids) known as gangliosides in the brain and nerve cells. This abnormal accumulation of gangliosides leads to progressive dysfunction of the central nervous system.
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