Human Genetics - 2019



An email sent to two members of the staff of Congressman Mark DeSaulnier
 
To refresh the memory I teach the venerable Chinese martial art of Tai Chi Chuan to people 
with special needs, most often somewhere on the very broad autism spectrum. There is
considerable use of sensors to measure heart rate, oxygen efficiency and blood pressure. I
was aware that there is a fair chance students would also have seizures. As an experiment,
one student was equipped with a portable electroencephalogram (EEG). To my considerable
alarm and dismay, the measurements indicated that the student was having a non-trivial
number of small seizures. Scientifically, a small seizure is one that happens to someone else.
There was a flurry of emails to the device maker (Neurosky of San Jose) - they said all     
 appeared to be working correctly, and we were observing real seizures. There is something
of a world-wide genetics grapevine, so I asked some of the (self-identified) best and the
brightest on our  planet. The common conjecture in Europe and among some American
researchers is that seizures are much more prevalent than had previously been believed.
The key difference is that inexpensive devices like the hardware from Neurosky now make it
possible to detect the events [seizures] at all sorts of times and places.
As you may know, there are over 700 genes in over 500 named syndromes associated with
the autism spectrum alone. At the same time, there are well over 100 genes associated with
various kinds of epilepsy and seizures. It is very important to know exactly which autism and
which epilepsy one has - that generally requires DNA testing.
The Congressman is likely to be more more aware of leukemia research results than I am.
He would know that there are already over 160 genes implicated in various syndromes within
the leukemia spectrum. For reasons poorly understood, people with many of the variants
of Down Syndrome have a much much higher chance of being afflicted with one of several
types of leukemia. Again, it is critical to understand the exact Down Syndrome and leukemia
genetics so a person needs to get DNA analysis.
In hopes the House email filters are not too aggressive I have attached a PDF explaining
my manifest unhappiness with the state of the DNA sequencing industry. America and
homo sapiens can do better. I think a legislative boost would be appropriate. 
 
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