Human Genetics - 2019



More of a PDF to an email addressed to two members of Congressman Mark DeSaulnier's staff
 
In the 1860s English physician John Langdon Haydon Down (18 November 1828 – 7 October 1896)
wrote some of the earliest descriptions of what is today known as the Down Syndrome spectrum.
Somewhat ironically, one of his grandsons was later diagnosed with the condition.
In 1959 Down Syndrome was discovered to be caused by a third copy of chromosome 21.
In the years since it has gradually been learned that one need not have a complete third copy of the
of the chromosome – there are a variety of effects involving parts of chromosome 21. How exactly
 the extra DNA causes the many symptoms of associated with the Down Syndrome spectrum
 remains elusive.
 However, leukemias are 10 to 15 times more common in children with Down syndrome.
 
 In particular, acute lymphoblastic leukemia [ALL] is 20 times more common AND
 acute megakaryoblastic leukemia [AMKL] is 500 times more common.
 
For parents of a Down Syndrome spectrum child the strategy would be to use DNA sequencing to
clarify what type of Down Syndrome the child has. In addition, it is necessary to also check for
leukemia and other possible challenges. Like the spectra for autism, ataxia, arthrogryposis, cerebral
 palsy and so on, what is really needed is to get the whole genome sequenced so that the so-called
 secondary challenges involving asthma, food allergies, seizures, digestive complications (like irritable
 bowel diseases), sensitivities to light, sleep or circadian rhythm disruptions and so on can all be
 identified.
 
 Some legislative recommendations – nothing partisan here. If we measure the strength of a society
by how it treats its weakest - the young, the old, the poor and the disabled - then what a strong
 society or state or culture does is something like
1. Build out an internet-accessible database with mutation-level information
2. Fund a committee of experts to review contents so that published reports of mutations can be
evaluated promptly on an ongoing basis.
3. Mandate that government agencies at the city, county, state and federal levels use the database
for law enforcement, judicial systems, education, Social Security disability determination,
employment discrimination, health insurance and epidemiology.
 4. Consider requesting that international partners, in addition to forwarding research, also assist
 with translation of syndrome names and syndrome synonyms. Note that it would likely be very
useful to some technically inclined parents to have abstracts of key research publications translated.
5. Currently, the vast bulk of gene names, syndrome abbreviations and mutation descriptions are
given in the Latin alphabet and in English. It is likely that in the future epigenetic descriptions will
also be given this way. It is worth discussing with international partners of transliteration of a gene
name like MECP2 into Arabic, Cyrillic or Chinese characters should be pursued.
6. Require that DNA sequencing companies refer to the database when reporting customer DNA
7. No (zero) links to a person
 
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