Saturday, 21 January 2012

More Genetic Research

Over the years Violet has been part of numerous genetic research overseas and here. Last night we received a call from Violet's geneticist to ask if we would like to take part in a new and very exciting research that is being run through The Children's Hospital of Philadelphia (CHOP) into genetic causes of rare medical conditions.

It is called Next Generation Sequencing. The great thing about this research is that they look at EVERY gene (25,000 odd) ! They don't just have to pick one gene and test that.

As you would imagine it is very expensive to have these kinds of tests but we are lucky to have been chosen by Violet's geneticist to take part in more research and have it all funded. I know I cannot get my hopes too high to have an answer to why Violet has been born with the complex conditions she has but I am willing to give it a try.

As they have had Violet's bloods and tissue samples from when she was born they only require Dave and I to give a blood sample to submit to the research. We are booked to do this early Monday morning.

It will be a long wait to hear if they have found any answers but I am also hoping through this that they may be able to help better manage Violet's conditions and advise of anymore possible implications they may have on her in the future. This would also benefit Emily if there is a genetic issue that could be passed through to other family members.


Alison said...

What a great opportunity!!

The Henrys said...

I hope you get some good answers with this new research study!