6 Comments

1. ozmickjosh says:

   September 16, 2014 at 10:06 am

   Thanks for all hard work and great research you guys are doing on the PTCHD1 gene. 🙂 my son was the 15 month old in the last study that was done. thanks again

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2. neurogenlab says:

   September 17, 2014 at 2:23 pm

   Thanks, and thanks again for your involvement in the study. This was of huge benefit for the understanding of the relationship between genetic variation at PTCHD1 and the clinical consequences. Hopefully we can expand on this soon, with larger numbers, and more detailed clinical analysis. This is the kind of study that will be needed for all genes associated with autism or intellectual disability.

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3. Irma van Loon says:

   December 21, 2014 at 8:33 pm

   I am very glad with the information. We have two sons with this deletion. Thank you very much.

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4. Louise Fry says:

   April 22, 2015 at 3:44 pm

   I have one son with this deletion. He is now nine years old. I would love if I find someone that could share experiences with.

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   • neurogenlab says:

     April 22, 2015 at 3:53 pm

     Hi Louise, thanks for contacting us. I realize how important this is for families, and will try to point you in the right direction to talk with other parents. Where are you based? So far we know of families in the UK, France, US, Canada, Australia, Netherlands, Belgium, Switzerland and Germany. One good starting point would be through our PTCHD1 facebook group, which I believe you’ve already joined. Also, feel free to contact myself and/or Melissa Carter directly by email for offline discussion (see contacts page).
     cheers
     John

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5. Louise Fry says:

   April 26, 2015 at 1:57 am

   We live in Canada in the Niagara region of Ontario. I accidentally came across the face book page. I was looking for information under xp22.11 . Thank You I look forward in meeting new families.

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