Sandra Sermone's Contact Details

Sandra Sermone's Company Details

ADNP Kids Research Foundation

Brush Prairie, Washington, United States • 3 Employees
Research

WHO WE ARE The ADNP Kids Research Foundation is the worlds first non-profit organization to fund research, publish papers and promote awareness for ADNP Syndrome. We are a strong international patient focused organization with the largest collection of diagnosed patients worldwide, approximately 300.OUR MISSIONTo advance the awareness and understanding of ADNP Syndrome / Helsmoortel – Van Der Aa Syndrome (ADNP) by supporting research for treatments and drug development, increasing awareness and scientific understanding, promoting individualized specialty care and protocol, supporting families and providing information to help all individuals with ADNP realize their full potential and have a better quality of life.ADNP SYNDROMEADNP Syndrome (also known as Helsmoortel-VanDerAa Syndrome / HVDAS) is an extremely rare neurodevelopmental genetic disorder caused by a mutation or partial deletion in the ADNP (Activity Dependent Neuroprotective Protein) gene.ADNP Syndrome can cause problems with the neurological, cardiovascular, endocrine, immune, musculoskeletal and gastrointestinal systems, as well as vision, hearing, growth, feeding and sleep. Developmentally, it can cause mild to severe delays in intelligence, speech and global motor planning, (including gross motor, fine motor and oral motor). It causes behavior disorders such as Autism Spectrum Disorder (ASD) in a substantial proportion of cases. In fact, it is estimated: ADNP to be mutated in at least 0.17% of genetic autism cases, making it one of the most frequent ASD-associated genes known to date.