Human Genetics - 2019

On a perfect planet anyone who suspected that they were autistic, epileptic or
otherwise genetically challenged ought to get a full genome analysis. That way, as far as
current knowledge is aware, one knows all or probably most of one's genetic liabilities.
That means there has to be a database by gene and specific mutation that resolves
to a syndrome. As mentioned previously, it is certainly the case that one might show 
symptoms of something without a known genetic defect or that one might not show
symptoms despite a known genetic effect. These are both, at one's discretion, interesting
research areas. If the results come back, for example, that someone has
1. Down Syndrome translocation 14 p15 (= extra parts of chromosome 21 attach to 
chromosome 14 in the p15 region. Down Syndrome translocations have been found
involving chromosomes 13, 15 and 22. It is an active area of research to describe what
parts or copies of chromosome 21 went where. As far as I am aware, no one has
reported multiple translocations in the same person.
2. a mutation in the HLA-DOB1 gene associated with an intolerance to gluten
3. a mutation in the AP3B2 gene associaed with epileptic encephalopathy type 48
4. a mutation in the RAI1 gene associated with circadian rhythm disruption
then schools, insurance companies, Social Security, law enforcement and judicial
systems at the Federal, state, county and municipal levels can operate from a common
basis. In the early 18th century communications were slow, translation from one
language to another was tedious, medicine was primitive, diseases were rampant, war
was frequent and Johan Gregor Mendel, a friar of the Order of Saint Augustine, had
yet to found the science of genetics. Today we have none of those excuses. We all need
one database that defines human genetic variations. If a government or agency does not
wish to use the data to help the people it bears responsibility for it has be pointed out
that governments and societies go extinct just like species do. The United States of
America should, for a variety of reasons, lead the effort. If the United States cannot,
then California, for the same reasons, should take up the responsibility of leadership.
For a detailed database design click here
For the prior web page click here
To return to the genes page click here
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