8diseases

"Research is ongoing, but it is believed that an abnormal metabolism of the neurotransmitters dopamine and serotonin are involved with the disorder. It is genetically transmitted; parents having a 50% chance of passing the gene on to their children. Girls with the gene have a 70% chance of displaying symptoms, boys with the gene have a 99% chance of displaying symptoms." Read more: [|Tourette's]

[|TaySach's] " Tay-Sachs carrier testing is vital for individuals in high-risk populations: Ashkenazi Jews, French Canadians, Louisiana Cajun, Pennsylvania Dutch and preliminary data suggests persons of British Isle and Italian decent have an increased carrier rate over the general population. Carrier testing is best completed before conception. Even if your childbearing years are over, your carrier status can be an extremely important piece of information. If you are a carrier, your close relatives (children, brothers, sisters, cousins, aunts, uncles) should be alerted so that they can be tested as well. Tay-Sachs carrier testing is also vital for the close relatives of families with an affected child, regardless of ethnic background, since all parents of children with Tay-Sachs are, by definition, carriers." (source:www.ntsad.org)

[|Fragile X Syndrome:] "Many inherited diseases like sickle cell and hemophilia are caused by a single change in the genetic code in the DNA. It is as if there is a single typographical error in the instructions for how to make the protein. Fragile X syndrome is not the result of a single change in a base. Instead it is known as a trinucleotide repeat disorder. This is because instead of a single error in the code, there is the multiplication of part of the genetic information." "Approximately 1 in 3600...males in the world are born with the full mutation for Fragile X. Note: The vast majority of males with the full mutation will __have__ fragile X syndrome. Approximately 1 in 4000...females in the world are born with the full mutation for Fragile X. Note: Approximately 50% of females with the full mutation will have some features of fragile X syndrome."

"Although achondroplasia often is caused by a de novo mutation, it may be helpful to identify families at risk, such as parents who are heterozygous for either the G1138A or G1138C mutation." [|Achondroplasia/Dwarfism] "Males and females are affected equally." and "Frequency is believed to be 1 case per 15,000-40,000 births worldwide." Rare dwarf Kristin on [|Oprah]- go to slides 4, 5, 6, 7