| 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 |
| |
|
For the
previous page of the attachment click here |