Currently, no approved therapies exist for ADNP syndrome, a rare genetic neurodevelopmental disorder. But a group of researchers from the UC Davis MIND Institute are working to change that. According to a recent news release, the research team – funded by Simba Global and the ADNP Kids Research Foundation – will begin a $4M research program to determine novel and effective treatment options for ADNP syndrome.
The Research Program
Additional researchers joining this endeavor include Dr. Jill Silverman, Dr. Kyle Fink, and Dr. David Segal, who all work within intervational genetics.
Sandra Bedrosian Sermone, founder of the ADNP Kids Research Foundation and mother to Tony, the first child in the United States diagnosed with ADNP syndrome, is one of the leaders of this charge. She explains that rare disease parents are motivated to make a change and that one of her goals is to find therapeutic options for all those with ADNP syndrome. Through the Foundation, she was able to connect to the Somaia family, who founded Simba Global. Tye Somaia, who is just two years old, also has ADNP syndrome.
From this connection, the push for research grew. Eventually, the ADNP Kids Research Foundation, Simba Global, and the UC Davis MIND Institute formed this partnership. This is especially exciting as this same research team has made strides in other conditions. In fact, this team helped create the first rat model for Angelman syndrome, is developing treatment options for SYNGAP1, and have been studying gene reactivation in CDKL5 deficiency disorder.
Within this $4M program, researchers will seek to:
- Create cell cultures of ADNP syndrome within petri dishes. This means that even when testing potential therapies in animal models, researchers will also be able to see how human cells respond.
- Characterize and study mice models of ADNP, as well as related cells.
- Evaluate three potential therapeutic options, including ASO technologies, CRISPR treatments, and gene therapy using viral delivery.
What is ADNP Syndrome?
Also known as Helsmoortel-van der Aa syndrome (HVDAS), ADNP syndrome is an extremely rare neurodevelopmental disorder which has been diagnosed in an estimated 400 children globally. However, due to misdiagnosis or underdiagnosis, many believe that the prevalence is higher at around 1 in every 20,000 people. ADNP gene mutations – which are de novo, rather than inherited – cause ADNP syndrome. These mutations may cause abnormal chromatin remodeling and change the way different tissues and organs develop and function. Symptoms and characteristics include:
- A thin upper lip and broad nasal bridge
- Prominent forehead with a high hairline
- Autism spectrum disorder
- Drooping eyelids
- Intellectual disability
- Hypotonia (low muscle tone)
- Vision problems, such as farsightedness or eyes that do not point in the same direction
- Gastroesophageal reflux
- Impaired communication (such as delayed speech) and social interaction
- Behavioral and social problems such as anxiety, ADHD, or OCD
- Sleep disruptions
Learn more about ADNP syndrome.