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'''Tay-Sachs Disease''' ...rare, inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord.

== Bernard Sachs == ...member of the group of physicians who discovered and described [[Tay-Sachs disease]].

...Brooklyn, New York, that aims to reduce the incidence of genetic disorders in the Jewish community worldwide. ...ife lost four children to [[Tay-Sachs disease]], a genetic disorder common in the Ashkenazi Jewish community. The organization's primary goal is to preve

...rdoʊˈmɪnəns/), also known as '''heterozygote advantage''', is a phenomenon in [[genetics]] where the [[heterozygote]] genotype has a higher [[fitness]] t ..."over-", meaning "excessive", and "dominance", referring to the principle in genetics where one [[allele]] masks the contribution of a second allele at

...nter of the macula, the small area at the center of the retina, in certain disease conditions. ...nsparency of the macula due to underlying accumulation of storage material in the [[ganglion cells]].

...zyme that in humans is encoded by the HEXA gene. It is a crucial component in the lysosomal degradation of [[Ganglioside|gangliosides]]. ...hexose sugar molecule that the enzyme acts upon. The "-ase" suffix is used in biochemistry to denote an enzyme.

...proximately 50 rare inherited metabolic disorders that result from defects in lysosomal function. Lysosomes are sacs of enzymes within cells that digest ...term "storage diseases" refers to the accumulation of undigested molecules in the lysosomes.

...disorders, characterized by the abnormal accumulation of [[sphingolipids]] in cells and tissues. ...", a suffix in medical terminology that indicates an abnormal condition or disease.

...d fatal genetic disorders that progressively destroy nerve cells (neurons) in the brain and spinal cord. ...name of a specific molecule, GM2 ganglioside, that accumulates abnormally in the cells and tissues of individuals with these disorders due to a deficien

...gangliosides, in the nerve cells. This accumulation leads to a disruption in cell function, causing a variety of symptoms. ...the sugar chain, and the Greek word "osis", meaning abnormal condition or disease.

...of certain fats known as [[gangliosides]], specifically GM2 gangliosides, in the nerve cells of the brain. Sandhoff disease is pronounced as "san-doff" disease.

...ening" and ''soma'' meaning "body", referring to the function of lysosomes in breaking down cellular waste. ...imately 50 rare inherited [[metabolic disorders]] that result from defects in lysosomal function. Lysosomes are sacs of enzymes within cells that digest

...ance on which an [[enzyme]] acts, and "reduction", indicating the decrease in the amount of substrate. "Therapy" is a term used to describe a treatment i ...atment approach that aims to reduce the accumulation of harmful substances in the body's cells. This is achieved by decreasing the production of the spec

...ome people may be born with hyperacusis, while others may develop it later in life. * [[Tinnitus]]: A ringing or buzzing noise in one or both ears that may be constant or come and go, often associated with

...ses are genetic and are present from birth, while others may develop later in life. ...etal]]: [[Osteogenesis imperfecta]], [[Ehlers-Danlos syndrome]], [[Gaucher disease

..."GM2-gangliosidosis" is derived from the name of the fat that accumulates in the body's cells and tissues, "GM2 gangliosides". The "AB variant" refers t GM2-gangliosidosis, AB variant is caused by mutations in the [[GM2A]] gene. These mutations lead to a deficiency of the GM2 activato

...tic mutation]] that involves the insertion or deletion of a [[nucleotide]] in a [[DNA sequence]] that is not divisible by three. ...from the concept of the reading frame in [[molecular biology]]. A "shift" in this frame can lead to different [[amino acids]] being produced, hence the

* [[Abscess]] - an accumulation of pus in a body tissue, usually caused by a bacterial infection * [[Acid reflux]] - a disorder in which acid in the stomach comes up into the esophagus, because the valve separating the s