Page 21 - Abacoa Community News - October '24

Abacoa, Page 21

Science On The cuTTing edge

than 1,000 people have been diagnosed. Up to 2% of
people with intellectual disability may have a SYNGAP1
mutation, Rumbaugh said.
The new grant, from NIMH’s National Cooperative
New $7.7 Million Grant Drug Discovery/Development Groups for the Treatment
of Mental Disorders division, will enable the scientists to
To Propel Search For refine their work on oral medicines to restore SYNGAP1
levels. The scientists hope that a drug able to boost
Medications For Brain SYNGAP1 might benefit others types of patients as well.
It’s possible that people recovering from strokes, or people
Disorders with brain and nervous system degeneration might also
benefit, Rumbaugh said.
Children born with “Our work has shown that SYNGAP1 is a potent
a damaged gene needed activator of neuroplasticity, or the ability to make new
for healthy brain connections based on experience,” Rumbaugh said.
development, SYNGAP1, “Because our experimental therapeutics stimulate
experience seizures, SYNGAP1 expression, we expect that if our development
sensory processing disorders, difficulty speaking, process creates drug candidates with the desired
intellectual disability, and autism-like behaviors. It’s a properties, they will be useful in the SYNGAP1 genetic
condition without any treatments, one that’s hard both disorder, but they may also assist with other disorders
on parents and children, said Gavin Rumbaugh, Ph.D., that affect intellectual functioning.”
a neuroscientist at The Herbert Wertheim UF Scripps The Wertheim UF Scripps Institute is unusual because
Institute for Biomedical Innovation & Technology. Gavin Rumbaugh, Ph.D., studies a gene critical for on one campus, experts in neurobiology can collaborate
Rumbaugh and a team of scientists from the institute neurodevelopment, called SYNGAP1. He is part of a team with experts and tools required to design medicines, said
have been awarded a five-year grant from the National working on a potential treatment. The team recently was Miller, the institute’s director of academic affairs, and a
Institute of Mental Health worth $7.7 million to work awarded a five-year, $7.7 million grant for the effort. Photo co-investigator on the project.
toward a treatment. Their goal is to create a pill that by Scott Wiseman “To create a safe and effective first-in-human drug
restores healthy SYNGAP1 gene production, thereby for the clinic, a lot of work must be done on the original
boosting neuroplasticity, or the ability of the brain to form one working copy isn’t a problem. But with SYNGAP1, molecule,” Miller said. “This is a well-defined, iterative
circuits and connections. The scientists’ hope is that their losing both gene copies is fatal, and partial or complete process of modifying the starting molecule, measuring
work will improve the quality of life for both children and loss of one copy can be debilitating, Rumbaugh said. how that affects the drug’s properties, like the ability to
adults with the disorder, Rumbaugh said. Collaborators on “Children born with the most serious SYNGAP1 get into the brain, followed by ensuring it will be well-
the grant include Wertheim UF Scripps scientists Courtney mutations may have many seizures a day, difficulty tolerated in humans.”
Miller, Ph.D., and Ted Kamenecka, Ph.D. walking, difficulty communicating, and difficulty sensing Ultimately, the hope is their therapy will remove many
“Seizures can be induced in these children by pain. Some require caregivers for their entire lives,” of the challenges faced by families affected by SYNGAP1
something as simple as eating the wrong texture of food,” he said. “It’s only in recent years, with more available and, potentially, other brain disorders, Rumbaugh said.
Rumbaugh said. “The benefit of a medication you could genetic sequencing and social media, that families have “We’re excited and hopeful about the potential to
take as a pill is that the dose could be adjusted as the begun to find each other, enabling studies that estimate improve the lives of people with this mutation, and
children grow.” the prevalence of the mutations.” possibly, others grappling with neuroplasticity issues,”
When working properly, the SYNGAP1 gene helps the Advocacy groups connecting families include the Rumbaugh said.
brain assemble the circuits needed to process the senses Syngap1 Foundation, and the SynGAP Research Fund. The research is supported by NIMH grant number
and learn, Rumbaugh discovered. Mutations can impair The condition is rare. One estimate suggests that about 1U01MH136567-01.
this process, with varying outcomes. People have two 200 babies a year are born with a SYNGAP1 mutation
copies of each gene. Often, a mutation that knocks out in the United States. Since its discovery in 2009, more Science On The Cutting Edge on page 22

gOvernmenT

Commissioner’s Update

Advocacy And Civic halls to volunteering and joining community boards. Civic a hallmark of our success as a county, much of which is
a direct result of various partnerships between the county
engagement emphasizes collective action to address societal
Engagement In Government issues and fosters a shared responsibility between citizens and FDEP. However, the plan amendment was directly
and their government. detrimental to environmentally sensitive lands and water
By Vice Mayor A recent example of effective advocacy and civic quality to the Loxahatchee River. Along with my colleagues,
Maria G. Marino engagement occurred in Palm Beach County when the I penned a letter to the secretary of the FDEP, expressing our
Advocacy and civic Florida Department of Environmental Protection (FDEP) opposition to the proposal and requesting its withdrawal.
engagement are fundamental unveiled its 2024/25 Great Outdoors Initiative. This Advocacy empowers individuals to take action on issues
to a healthy democracy. initiative is aimed to increase public access, recreation and they care about, fostering a sense of ownership over the
These practices allow lodging at Florida state parks. However, the proposal to direction of government policy. As an elected official, I
citizens to influence amend the Unit Management Plan of Jonathan Dickinson often have the opportunity to hear from constituents daily
government policies, hold State Park (JDSP) to develop environmentally sensitive through letter writing, phone calls, public comment on
officials accountable, lands into a golf course sparked wide concern. agenda items, and additionally once a month during Matters
and actively shape the Local residents, outraged by the potential environmental by the Public. When individuals realize that their voices can
decisions that impact their damage, quickly mobilized. They reached out to elected have an impact, they become more involved in the political
communities. When citizens officials at the local, state, and federal levels, voiced their process. Advocacy and civic engagement are crucial to the
and organizations engage, they can drive government concerns, and organized protests. In a matter of days, health of a democracy.
responsiveness, transparency, and effectiveness. thousands of residents had signed petitions and coordinated As demonstrated in Palm Beach County, when citizens
Advocacy refers to the efforts of individuals, groups, or protests. As a result, the outcry attracted attention from come together to advocate for change, they can profoundly
organizations to influence public policy and government officials across the state, including Florida Cabinet impact their government and community for the better.
decisions. These efforts can take various forms, such as members, U.S. Congress representatives, and state senators. Thank you for staying engaged and making your voices
lobbying, public campaigns, and grassroots mobilization. These leaders called for increased transparency and urged heard. If you’re interested in learning more about the Palm
It often involves educating decision-makers and the public FDEP to withdraw the proposal. Beach County boards and committees that citizens may
on specific issues, persuading them to adopt certain policies As Vice Mayor of Palm Beach County and a member of participate in, please visit https://secure.co.palm-beach.
or actions. the Loxahatchee River Management Coordinating Council, fl.us/ABC/Pub_ABCReports.aspx. As always, please
Civic engagement is a broader concept that encompasses I was acutely aware of the proposed plan’s potential impact contact me if I can be of assistance at (561) 355-2201 or
any activity that allows citizens to be involved in public on the Loxahatchee River, a designated National Wild and by email at MMarino@pbc.gov.
life. This ranges from voting and participating in town Scenic River. Protection of water quality and lands has been