Exciting Developments in Tay-Sachs Research. Screening companies are popping up. The genetic screening is typically done for. Mutations, the most common of which is an insertion of four nucleotides, TATC, in exon 11, causing a premature stopping point and subsequent instability of the. Almost 130 mutations in all have been characterized, but some researchers are continuing to try to find more. Mutations, because this couldlead to more effective and common screening.

Although Alkaptonuria is not lethal, its effects on the body are painful and debilitating. To date, an effective form of treatment has not been created, but scientists have been able to alleviate some of the pain associated with the disease. Doctors have tried treating patients with ascorbic acid, low protein diets, and physiotherapy, but none of those methods correct the underlying metabolic defect.

We will look at the research and biochemistry behind Niemann-Pick disease. Attempt to find a link between cognitive and coordination deficits and NPC. Their results proved that NPC does, in fact, deal with a lack of esterification of cholesterol, leading to the accumulation that causes the symptoms.