In a recent press release, the SynGAP Research Fund (SRF) shared that the Heller Laboratory of Neuroepigenetics would receive a $130,000 research grant. The fund, which will be granted over a 2-year period, will be used for a postdoctoral fellow studying the epigenetic regulation of SynGAP1. The SynGap1 gene, which helps to make the SynGAP protein, plays a role in early brain development. However, mutations in this gene can result in a rare inherited neurological disorder called SYNGAP1-related intellectual disability.
SRF Research Grant
The SynGAP Research Fund provided the research grant. Incorporated in 2018, SRF is a 501(c)(3) nonprofit organization designed to raise awareness of SYNGAP1. The organization plays a role in research, treatment development, education, and support for patients and families with SYNGAP1. Additionally, the organization is completely parent-led; the founders cover operational costs, so 100% of the donations made to SRF go to research-related causes. Learn more about SRF.
In this case, SRF raised the money for this grant through #SRFHeller fundraising. This included charity bike rides, lemonade stands, live streams, and other fundraising contributions. Now, Dr. Heller will study SYNGAP1 at the Heller Lab of Neuroepigenetics. During the research, Dr. Heller will analyze therapeutic targets, epigenetic, SYNGAP1 gene activation, and possible treatment development. By understanding how the gene is regulated and activated, better treatments can be found.
SYNGAP1-related Intellectual Disability (SynGAP1 Syndrome)
According to the SRF:
SynGAP1 Syndrome is a rare genetic disorder caused by a mutation on the SYNGAP1 gene, [which is] located on Chromosome 6 and is responsible for producing the Syngap1 protein.This protein acts as a regulator in the synapses – where neurons communicate with each other.
Gene mutations cause little to no SynGAP1 protein to be produced. As a result, the neurons are unable to effectively communicate, causing neurological issues. An estimated 650 patients worldwide have SYNGAP1 syndrome. Symptoms and characteristics include:
- Intellectual and developmental delays
- Autism spectrum disorder
- Weak muscle tone
- Developmental regression
- Seizures
- Delayed speech
- Impulsivity
- Hyperactivity
- Sleep issues
Heller Lab of Neuroepigenetics
What are Neuroepigenetics?
In the NeuroEpic podcast, Sam Cusimano and Dr. David Sweatt describe neuroepigenetics as:
the study of how our life experiences lead to epigenetic changes in the brain, and how these epigenetic changes in turn affect our thinking and behavior[,] how our brains give rise to our unique personalities and ways of acting, how our early childhood experiences affect our behavior as adults, and how the food and drugs we consume influence the connections that our brains make. In doing so, neuroepigenetics challenges the traditional distinction between “nature” and “nurture” – that is, the supposed division between the hereditary and environmental forces that make us who we are – and shows that the two are in constant interplay.
The Heller Lab
The Heller Lab of Neuroepigenetics is part of the Perelman School of Medicine at the University of Pennsylvania. According to the lab’s website, the Heller Lab of Neuroepigenetics studies the epigenome, or:
the molecular modifications that decorate DNA and its associated proteins. The Heller Lab studies the mechanisms by which remodeling of the epigenome leads to aberrant neuronal gene function and behavior.
Through their studies, the Lab manipulates and modifies genes in vivo (or in the body). Through their novel approaches and unique technology, the Heller Lab seeks to understand how gene expression and gene manipulation relates to neuronal epigenetics.
