identifying a rare genetic bone disease

[Williams, Jeffrey - DHMF]

I am a physician in Santa Cruz and have identified a woman who probably has a rare genetic defect that affects bone and other tissue.  She cannot afford the cost of testing for the suspected genes from the one company that offers that testing, but could afford the whole genome testing that I understand is down to $1000.   If We were to get her whole genome sequenced , do you have the ability to locate the candidate genes and assess for a mutation for this lady?   Any suggestions?  Anyone at UCSC interested in rare bone diseases?

Thanks!  Jeff Williams  Md PhD   419-4740 cell  email

[robert kuhn]

Hello, Jeff,

Thanks for you message, and sorry for a slow response.

We have been talking about your request within the group and
I'm afraid we have not come up with a solution. While it may be
possible to obtain a sequence for (near) $1000, the analysis is
still expensive and time-consuming.

As we do not have a clinic or hospital at UCSC we to not do this
sort of analysis and are not certified to provide genetics advice
to patients. People holding the proper certification, provided by the
American College of Medical Genetics, can be found in genetics
labs at major hospitals and medical centers. While I know a number
of people in medical genetics personally, none of them is working
on bone disorders.

I suggest that you contact the geneticists at UCSF to see if someone
there may be able to help:

http://humangenetics.ucsf.edu/

I will also contact you off-list with the names of several people
working in the area of bone disorders who have presented their
work at a recent genetics meeting. Perhaps one of them will take
an interest in your case, or know of a colleague working in the
area.

best wishes and our sympathies to your patient.

--b0b kuhn

Robert Kuhn, PhD
ucsc genome bioinformatics group

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