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WA4NID > FAMILY 29.07.96 03:01l 51 Lines 2032 Bytes #-10699 (0) @ WW
BID : 8B0197WA4NID
Read: GUEST
Subj: Web ROOTS SURNAME, & me
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Sent: 960728/2134Z @:WR4AGC.WR4AGC.#DUR.NC.NOAM #:9461 [Durham] FBB5.15c
From: WA4NID@WR4AGC.WR4AGC.#DUR.NC.NOAM
To : FAMILY@WW
Thanks to Christopher, KD6FIB, for info on the ROOTS SURNAME
LIST on the web. I will look for that. He suggested I tell
a bit about my work.
I am involved in molecular genetics
research. There is a team of amny people involved, from
clinical geneticists and medical doctors, to laboratory
researchers like me. We study certain inherited diseases
of the blood vessels (vascular system). No, not heart
disease, but rarer things like cavernous angioma and
hereditary hemorrhagic telangiectasia (HHT; also called
Osler-Rendu-Weber syndrome, or ORW). Try saying
that ten times fast! The genes that are defective in causing
these diseases are likely to be important in development or
repair of blood vessels. So far we have discovered two genes
which, when defective, cause slightly different forms of HHT.
These genes are involved in cell signaling pathways mediated by
the transforming growth factor-beta superfamily of receptors.
I have been on trips to visit families and collect blood samples.
I don't draw the blood, as I am not an MD and not qualified,
but I help with collecting the family history information.
Then back at the lab we extract DNA from the blood and use it
to look for mutations in the genes. The first step is linkage
analysis, which involves using highly polymorphic DNA markers
scattered throughout the genome to localize the disease gene.
The results of this analysis is the gross localization of a
disease gene to a region of one chromosome. Further searches
must then be carried out to find the actual disease gene.
This work is sometimes tedious but is interesting and rewarding
when we actually identify a disease gene. See the June 1996
issue of Nature Genetics for our paper describing the
identification of the ORW-2 gene.
Best wishes to all for a great summer!
Sincerely,
Dave Johnson
73 - Dave, WA4NID @ WR4AGC.#DUR.NC.USA.NOAM
Message timed: 17:13 on 28 Jul 96
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