Four letters and a number. An essential gene for neurodevelopment and many other functions of our body. Sua mutação antes da mutação, em um ou em ambos os gametas, pode desencadear a Síndrome de Vulto-Van Silhfhout-de Vries ou de NEDHELS.
The triggered symptoms can be: Intellectual Disability, Speech or global apraxia, Autism Spectrum Disorder (ASD), Developmental delay, Epilepsy.
The identification of this mutation, in almost all countries, is only possible by EXOMA. In our database there are more than 100 surveys carried out so far. Much has already been seen, but for our children there are still many unanswered questions, difficulties, upheavals and other daily challenges. We want to go further.
With responsibility, proximity between families and science, faith and commitment, we believe that research can help each of these people to have more quality of life, communication and social participation.
After all, ALL LIVES ARE WORTH IT!
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Science is knowledge that comes from many, many experiences, studies, debates and collaborations. In this spirit, we join forces with those who wish to deepen their knowledge of this gene, which is so important and essential for neurodevelopment and which has a direct impact on Vulto-Van Silfhout de Vries Syndrome and NEDHELS.
“Scientific progress must be illuminated with the light of faith, so that it respects the centrality of the human person.”