Autism impacts tens of millions of people worldwide. We first noticed something was different about Owen when he was around 3-years-old. While he had a loving relationship with his twin sister Alice, his speech had fallen behind hers, and he did not engage in play with other children. In January 2020, Owen received a diagnosis of autism spectrum disorder from a developmental pediatrician. Unfortunately, due to COVID, all meaningful therapies had to be put on hold. 

It was only after years of continued development that we became convinced that Owen had something more deeply wrong. He was able to remain in a main-streamed academic environment with the help of loving teachers, dedicated therapists, and Alice's constant support. However, his ability to focus and complete tasks was limited, his speech and language impairments prevented him from having a real conversation, he engaged in repetitive, self-stimulating behaviors, and he was unable to form meaningful friendships. 

After pressing doctors to look for more answers and better treatment, we were advised that we should consider whole DNA (or exome) sequencing to test whether Owen had any genetic mutations. It was through this testing that we discovered that Owen has a mutation in his ITSN1 gene that is causing his autism/neurodevelopmental disorder. We have subsequently learned that this mutation is also linked to a significant increase in risk for Parkinson's Disease. 

Owen's story is not unique. ITSN1 mutations impact many, contributing to devastating neurodevelopmental disorders and significantly predisposing individuals to Parkinson's Disease (See: ITSN1 & Parkinson's Disease; ITSN1 & ASD). But there is hope. Breakthroughs in gene therapy (See: CRISPR Gene Therapy) are already transforming treatments and even offering cures for other genetic conditions. This same potential exists for ITSN1-related disorders, but only through funding of additional research.

While Owen's entire support system (including Alice and his older twin sisters Audrey and Evelyn) work tirelessly to optimize his development, Owen is limited by current medical understanding of ITSN1 mutations. Breakthroughs in understanding ITSN1 mutations could be life changing for Owen and potentially hundreds of thousands of other individuals impacted by ITSN1-related disorders. For Owen and these individuals, it could mean transformation from requiring lifelong care and support to potentially living self-sufficiently and being productive members of society.

Researchers at the Jan and Dan Duncan Neurological Research Institute are dedicating their brilliance and time to help discover answers to ITSN1-associated diseases (see: Ryan Dhindsa). Public funding of this research is more important now more than ever given uncertainties around continued federal funding of medical research. There is a real potential that funding cuts could lead to a halt in research. Halting work on important advances could mean breakthroughs are never realized, and the full potential for Owen and other individuals impacted by ITSN1-related disorders never comes to fruition.

We urge you to generously consider donating to research to help solve ITSN1-related disorders. Advances in genetic research are expensive (for example, a post-doctoral researcher costs ~$100,000 per year and a graduate student costs ~$70,000 per year), but these advances can help reduce or prevent the need to spend tens of thousands of dollars annually in medical care and support for impacted individuals. Your investment in this important research is worth the dollars!