ADNP Syndrome News and Research

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Low-dose ketamine is safe and effective to treat children with ADNP syndrome, study suggests

Results of a small, but unique research study, led by researchers from the Seaver Autism Center for Research and Treatment at Mount Sinai and published online in Human Genetics and Genomic Advances, suggest that low-dose ketamine is generally safe, well-tolerated and effective to treat clinical symptoms in children diagnosed with ADNP syndrome (also known as Helsmoortel-VanDerAa syndrome), a rare neurodevelopmental disorder caused by mutations in the activity dependent neuroprotective protein (ADNP) gene.

6 Sep 2022

$4 million program launched to find transformative therapies for ADNP syndrome

Researchers at the UC Davis MIND Institute are launching a $4 million program to find transformative therapies for ADNP syndrome. The rare genetic condition causes developmental delays and can affect the brain, heart, gastrointestinal system and more.

29 Mar 2022

Researchers shed new light on epigenetic changes associated with ADNP syndrome

A study led by the Seaver Autism Center for Research and Treatment at Mount Sinai found that two different blood epigenetic signatures associated with ADNP syndrome (also known as Helsmoortel-Van Der Aa syndrome) have only a modest correlation with clinical manifestations of the syndrome. The study results were published online August 5 in the American Journal of Human Genetics.

6 Aug 2020

Investigational drug for Alzheimer's disease may help autistic children

An extensive international study led by Prof. Illana Gozes of Tel Aviv University's Department of Human Molecular Genetics and Biochemistry found deposits of the tau protein typically found in Alzheimer's patients in tissues taken from the postmortem brain of a 7-year-old autistic child.

28 Jul 2020

Study finds autism-related genetic mutations in aging brains of Alzheimer's patients

Researchers believe that autism is caused by mutations that occur sporadically in the egg or sperm or during pregnancy.

26 Nov 2019

Professor Illana Gozes from Tel Aviv University receives 2016 RARE Champion of Hope award

Tel Aviv University's Prof. Illana Gozes was awarded the 2016 RARE Champion of Hope -- Science International Prize by Global Genes, a leading global advocacy non-profit organization for patients and families fighting rare and genetic diseases.

5 Oct 2016