In 2007 we first reported that loss of genetic material that included a gene called CHD8 may cause a new syndrome that doctors can recognize. Now, a dozen years later we are happy to know our finding is confirmed and indeed there is a syndrome caused when this gene is mutated. The syndrome has Autism, and Intellectual Disability and several other features. We are now focussing on finding a cure and better treatment for the disorder. Finding the best treatments and preventative strategies and cures, requires first that we are sure about the disease we are studying. This paper confirms that this is a new disease and explains it in detail.
After 12 years upon suggesting the new syndrome. We have now collated information on over 50 reported patients internationally. We have also comprehensively reviewed their clinical presentation to present the most up-to-date complete overview of the disorder. This will be very useful to the clinical community and already we are seeing real-world impact.
Personally, this paper was the culmination of 12 years of tracking the syndrome I first suggested existed, when I published as a Masters student in 2007, the first report of CHD8 haploinsufficiency. I have had several doctors contact me after we published this paper and that is what makes all the long effort worth it - knowing our findings are helping clinicians and patients all over the world. Dr. Farah Zahir, PhD
J Hum Genet 2019 Apr 22;64(4):271-280. Epub 2019 Jan 22.
College of Science and Engineering, Hamad Bin Khalifa University, Doha, Qatar.
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