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There are a number
of genetic abnormalities associated with chromosome 16, as there
are with the other 23 pairs of chromosomes in the human body. While
the field of genetic research has grown tremendously in recent years,
much of the research is still in its earliest stages. The disorders
caused by chromosome 16 abnormalities have just begun to be researched
and more work needs to be done to help affected individuals.
1.
What are chromosome 16 disorders?
The most common disorder of chromosome 16 is trisomy 16, in which there are three
copies of this chromosome instead of the usual pair. Trisomy 16 is responsible
for well over 100,000 pregnancy losses a year, representing almost 10% of miscarriages
in the US.
Although full trisomy 16 is not compatible with life, there are a
number of related abnormalities with which a small, but growing,
number of children are born. (Additionally,
some adults may have a chromosome 16 abnormality without being aware of it
until they have trouble during pregnancy.)
Depending on the diagnosed disorder, a variety of medical problems may be
caused by chromosome 16 abnormalities. These include: heart and other vascular
problems,
delayed growth, speech and physical development, reproductive disorders and
kidney problems. This list is by no means complete and much more research
needs to be
done to determine the problems that chromosome 16 abnormalities can cause. Back to Top
2.
What does DOC 16 hope to accomplish by raising funds?
Our first step was to develop a comprehensive cytogenetic database which houses
detailed information on every known case of a chromosome 16 disorder. In January
2000 we offered our first grant for $30,000 for research into chromosome 16 disorders.
We will be able to offer more substantial grants as more funds come in.
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3.
What will your research accomplish?
Chromosome 16 research will be beneficial on at least two counts:
It is our hope that research into chromosome 16 will lead to new understanding
of the connection between this chromosome and major medical conditions--understanding
that will lead to medical breakthroughs to help not just those directly affected
by a chromosome 16 abnormality, but thousands, if not millions, of others.
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to Top 4.
Aren't these extremely rare disorders? Shouldn't we focus our attention
on more common illnesses?
Yes, the known number of children who have specific chromosome 16 disorders is
small. However, the number of miscarriages due to these disorders is large and
mosaic trisomy 16 may be a relatively common cause of poor fetal growth. The
number of adults with translocations and other abnormalities of chromosome 16
is unknown. We do know that disorders of chromosome 16 affect hundreds of thousands
of pregnancies each year. And due to the connective nature of genetic research,
research into the workings of chromosome 16 has the potential to help millions
of people-men, women, and children alike.
The affected individuals, most of whom are children, deserve the best medical
treatment available. It is an injustice to deny these children resources and
research just because their illnesses do not constitute a major health threat;
it is not fair to say that their pain and suffering does not matter; and it is
not right to ignore scientific leads that might create treatments and cures.
Well-funded, scientific research is the only way to help these children reach
their potential and may, in fact, help millions more.
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5.
Is my donation tax deductible?
Yes. The DOC 16 Foundation is a recognized 501(c)3 non-profit agency. All donations
are tax-deductible.
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6.
What percentage of my donation will be used to help affected individuals?
You can be assured that the Disorders of Chromosome 16 Foundation will use 100%
of your donation to fund research and aid affected individuals. DOC16 is a completely
volunteer organization. We have no paid staff and we do not use any professional
fund-raisers.
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