Researchers at NIH worked for many years on DNA material related to a rare condition called TARP syndrome, but it wasn’t until recently that they had the right tools at the right price to make an amazing discovery that TARP syndrome is caused by a mutation in a gene called RBM10.
TARP syndrome is 100 percent lethal.
This new finding could empower moms and families in the future. 
“Now that the gene has been discovered, it is possible that a genetic test could be developed to indicate whether or not they carry the mutation. Those who are carriers can then make reproductive decisions based on the information. Furthermore, the information could potentially be used for pre-implantation genetic diagnosis, or embryo screening, to select an embryo with the mutated RBM10 gene.”
For more information, see full press release here.
// CC
I hope the researchers working on my son’s condition are as diligent as these researchers about pulling samples from the refrigerator year after year. Gosh, you just never know what discovery is right there.

7 thoughts on “Genetic Sequencing Kit Catches Rare Mutation for TARP Syndrome”

  1. Chelsea says:

    My son 14 months and brother 21 years were diagnosed with TARP syndrome! I cannot find much on it because of how lethal it is!

  2. Cherie Pulliam says:

    My 15 year old son was just diagnosed with TARP syndrome. I am also having a hard time finding information. I realize that the earlier post is from 3 years ago, however it is the only one I have found that actually speaks of living examples. I would appreciate any new information that you may have.

  3. Chelsea says:

    Email me!
    My son is almost 4 and my brother is almost 24 both have TARP syndrome. I’d love to talk to you!

  4. Cherie says:

    You can email me if you would like at Hope to hear from you soon!

  5. Kim says:

    My twin boys who are currently 2yrs and 4mths have just been digonosied with TARP syndrome. I am finding it hard to find information and other who have/are going through this. Would love to make some contacts/friends. Please feel free to contact me on

  6. Cherie says:

    Sorry it took me so long to respond. My son is 15 and was just diagnosed in April. There is not a lot of information out there about TARP syndrome, so I guess we will have to learn together. I have spoken with the other moms that had commented on this post. Has she contacted you also? I would be interested in knowing any information that you may have and I am more that willing to answer any questions for you that I can. You can email me directly at

  7. I am posting this in November 2017. Please know there are a number of families with surviving children with TARP please send us an email or such for TARP on Facebook we have a close group of families willing to share and support others

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