Wednesday, May 25, 2011

The Email that made my Day!

Yesterday I received a wonderful email.  It was from a man named Professor Yanick Crow, who is from England.  He mentioned that he had seen my post on the AGS website and wanted to offer some possible help with the questions that we have.  Well, I looked him up here  http://www.manchester.ac.uk/research/Yanick.crow and after reading a bit about him, knew this is who we need to be in contact with.  I wrote back to him and said that yes, we would be very interested in having Dr. Narayanan get in touch with him to discuss our situation.  I emailed Dr. Narayanan about being in touch with Dr. Crow and he said,"This is absolutely great.  Dr. Crow is of course the leader in this field."  He said to go ahead and pass his email address on to him and sent a little write-up on where we are at as of now.  I'll add it here since it helps clarify things just a little bit.


Right now we have found one sequence variant in the SAMHD1 gene in both Bryce and Annalise (Dr.Hyland thinks this is a mutation rather than a benign variant).  It looks like they both inherited this mutation from their father.


The presumption is that, in order for them to have AGS, they would have to have a different mutation in the other copy of the SAMHD1 gene that they inherited from you.  This has to be something that is not able to be detected by the sequencing method used in Dr. Hyland’s lab.  There are certain types of mutations (especially deletions of large chunks or even the entire gene) that could be missed by traditional sequencing.  Which is why I thought that we should try to devise methods for searching for another mutation in Bryce and Annalise.

If Dr. Crow is able to do this type of testing (MLPA test), or if he has other ideas, then we can easily send him some DNA from Bryce and Annalise (and you and dad too).

So, I emailed this information to Dr. Crow and within a couple of hours I had a response saying that he had replied to Dr. Narayanan.  That was just before 10:00 last night.  I woke up at 6:00 this morning and saw that Dr. Narayanan had already sent me a message saying that he and Dr. Crow had already exchanged a couple of messages and that he was going to send Dr. Crow the DNA sequence information today and then he (Dr. Crow) would decide if he is able to test the DNA samples to locate another mutation (deletion).  I guess that he has a kit to look for deletions in SAMHD1, from a company in Europe, that won't be released to the general public commercially until December.  Can you believe that?!   How awesome is all of this that has taken place in less than 24 hours.  So, Dr. Narayanan asked if it would be OK for him to sent the DNA to him.  I of course wrote back and said that YES, it would be fine.  Now I will wait until I hear what is happening.  We are so excited that Dr. Crow took the time to contact us and we hope that he will be able to help us discover the missing gene.  

I have also been in contact briefly with 3 families who have children with AGS.  2 of which are actually here in Arizona.  It's amazing.  Please keep the prayers coming.  They are most certainly helping us to be in touch with those who we need to be!

2 comments:

B said...

This is so wonderful! Thank the Lord for applied brilliance:) We're sending prayers your way:)

laurie said...

Awesome Tammy!!