Answer 1:
Bone marrow can be taken pretty much from any
individual, including an infant with a genetic
disease such as Tay Sachs. It's a simple (but
painful) procedure that uses a needle to remove
(aspirate) the bone marrow cells.
Tay Sachs is a genetic disease - it's
pretty rare, but can be very serious. It causes
deterioration of nerve cells. It's due to a
mutation in one gene (called HEXA) on
chromosome 15. Both copies (alleles) of the
gene have to be mutated to get the disease. Some
populations of people have a higher incidence of
this mutation. Because we know exactly what gene
to analyze, it's possible to do a quick genetic
test to determine if a newborn has the mutation in
one or both alleles. So, it's pretty unlikely
that a Tay Sachs carrier would be able to donate
bone marrow, especially if they were in a high
risk population.
I'm wondering if you are thinking about how
to potentially treat an infant with Tay Sachs,
perhaps by isolating cells, repairing the mutation
and returning the "fixed" cells to the infant?
That's a great idea, but in this case, the entire
nervous system would already be affected in an
infant - you pretty much need a way to replace all
of the nervous system cells or fix the genome in
the newly fertilized egg. Researchers in China
have just reported such an effort, to edit human
fertilized eggs and repair the mutation that
causes b-thalassemia. In the United States,
the National Academy of Sciences and National
Academy of Medicine just released a "Guidelines
for Human Gene Editing." All of this is happening
very quickly, largely due to a new editing tool
called CRSPR-CAS9.
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