Human Genetics

THANK YOU FOR YOUR SUPPORT

As a basic scientist, it is an especially rewarding experience to connect with people who value and support what my team does. Like you, we are deeply committed to advancing research toward the next human genetics breakthrough. It is truly a pleasure to share with you an update on the work we have been pursuing and the achievements we have made with the help of your generous funding.

With best regards,

Shigeki Iwase, Ph.D.

Associate Professor and Principal Investigator, Human Genetics

ADVANCING HUMAN GENETICS RESEARCH

The Chromatin Neurobiology Lab strives to uncover histone-based mechanisms underlying neurodevelopmental disorders. Unlike the synapses, the nucleus is a less well studied compartment within neurons. Within the nucleus, the heritable information, the DNA, is wrapped around four small proteins known as “histones.” Recent advances in human genetics have made it increasingly clear that these histones can be a major cause of intellectual disabilities (IDs) and Autism Spectrum Disorders (ASDs) if their regulatory mechanisms are disrupted by genetic mutations. However, it is largely unknown how such mutations can lead to abnormal brain development and function. A principal aim of our lab is to elucidate the histone-related mechanisms underlying IDs and ASDs.

Your research fund currently supports our efforts to test a small compound for its impact on abnormal behavior and gene expression in our mouse model of the neurodevelopmental condition. If this works well, then we can begin working to improve the compound to increase the penetrance of the blood brain barrier. We have been able to provide salary and benefit support for trainees who are crucial to the success of the project, as well as expand mouse colonies for behavioral studies that require a large population.

ADVANCEMENTS MADE POSSIBLE BY YOU

This important study is time- and resource-consuming, yet an inevitable step for future therapeutic applications. Projects such as these have the potential to yield remarkable results. Yet because they are discovery-oriented, they are the most difficult to fund. A lack of research funding can halt the future of scientific findings, and the next step in science could be delayed, if not achieved at all. Because of your visionary investment, we are on the way to uncovering new breakthroughs.

We have published one research article, with another article now in revision for a prestigious journal. The results are promising, pointing to a new strategy for intervention of the neurodevelopmental conditions we are seeking to treat. Most importantly, our results push us closer to applying our findings to the next step in our research.

"The support means so much for me and our lab. It has been such a rewarding experience to connect with people who really value and support what we do."

Shigeki Iwase, Ph.D., Associate Professor and Principal Investigator, Human Genetics

LOOKING TO THE FUTURE

As with all basic sciences, these building blocks are critical for our work. The work we do now will reward us with the information we need to understand and manage IDs and ASDs. We are so grateful that you pledged your generosity for this important early-stage research and look forward to sharing additional results as they happen.

THANK YOU FOR YOUR PARTNERSHIP!