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Dr. José Carlos Reyes

Inside every human cell, DNA stores the instructions for building and maintaining life. For these instructions to be read correctly, a complex and delicate process is required to regulate which genes are activated, how and when. A key player in this process is a protein called CHD8.

CHD8 is not just another molecule: it is an organiser of genome expression, responsible for organising DNA so that genes function correctly, especially during brain development. But when the CHD8 gene mutates, that balance is disrupted.

This is when we talk about CHD8 deficiency syndrome, a rare genetic disorder that has been diagnosed in only about 165 people worldwide. In Spain, only six families have received this diagnosis, although we estimate that there could be as many as 2,000. People with this syndrome often have autism spectrum traits, language difficulties, intellectual disability, gastrointestinal problems, muscular hypotonia and characteristic facial features.

Every child with this condition is unique, but they all have something in common: they need constant support, specialised medical care and, above all, research. To date, knowledge about CHD8 deficiency syndrome is still limited, and treatment options are very scarce. However, advances in genetic science show us that with more research, we could open new doors and try to improve the quality of life for those living with this condition.

Dr. Jose C. Reyes’ group at CABIMER has been researching this protein for many years. We work closely with EMUNÁ CHD8 Syndrome Association (https://www.emunachd8.com), an association of families with children affected by the syndrome. Your donation will directly contribute to promoting research projects on the CHD8 gene and protein, to better understanding the syndrome, to investigating possible more personalised treatments, and to offering hope to families who live with this reality every day.

Thank you for believing in science.