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Dr. Scott Baraban remembers his first conversation with Mary Anne Meskis. They were introduced at an American Epilepsy Society meeting back in 2011.

Baraban runs a lab at the University of California San Francisco. Meskis is the executive director of the Dravet Syndrome Foundation (DSF).

The timing of this meeting was perfect. Baraban’s lab had exciting plans. They had been working on a zebrafish model with the gene mutation seen in Dravet syndrome.

“We were just about to start to characterize this zebrafish model as a model of Dravet syndrome and then potentially do some drug screening,” Baraban recalls.

The hope was to find new treatment options for Dravet syndrome this way. This would be amazing news for people and families living with Dravet syndrome.

It was a promising idea, but they needed a source of funding. That’s where Meskis and the DSF came in.

DSF has several missions. It works hard to support families living with Dravet syndrome. It spreads awareness of this rare disease. And finally it dedicates resources and time to fundraising.

With a rare condition like Dravet syndrome, there aren’t as many sources of funding for research.

The DSF recognizes that its fundraising efforts directly impact research into Dravet syndrome and the future of those diagnosed with the condition. Research is the key to better treatments and the hope for a cure.

This meeting between Baraban and Meskis led to a grant from the DSF for Baraban’s research.

Money raised through a multitude of fundraisers led by the DSF made this grant possible. It’s proof that all those galas, sales, and other events by DSF supporters really do make a difference.

Dravet syndrome is a rare form of epilepsy. It typically first appears in babies under 1 year of age.

Children with Dravet syndrome don’t grow out of it. And it’s intractable, meaning it’s very challenging to manage or treat.

Seizures tend to be frequent and last longer than those seen in other types of epilepsy. People with Dravet syndrome may experience language and developmental delays as well as challenges with balance and movement.

The seizures with Dravet syndrome can be very difficult to manage. It’s rare that people with Dravet syndrome will ever be seizure-free.

The goal is to find the right mix of medications that reduce how often seizures happen and how long they last.

“For our community, there is no single treatment protocol that works for all patients,” says Meskis. “We need new treatment options that have the potential to afford a better quality of life for the patient and family.”

Baraban has been studying genetic forms of epilepsy, such as Dravet syndrome, for more than 20 years. His lab first pioneered the use of zebrafish for epilepsy research in the early 2000s.

Surprisingly, zebrafish are really similar to humans when it comes to genetic conditions. These little fish share more than 80 percent of the genes associated with condition in humans.

Zebrafish are ideal for research for another reason. A pair of adult fish can produce about 200 larvae a week, providing lots of research subjects.

In humans, Dravet syndrome is caused by a mutation in the SCN1A gene. A pilot project done around 2010 to 2011 showed that the same gene could be altered in zebrafish.

These SCN1A mutated zebrafish showed similar seizure activity to people with Dravet syndrome. They also responded to treatments currently used to treat Dravet syndrome.

This meant these zebrafish were great models for research. And the grant from DSF allowed further testing with these SCN1A modified zebrafish.

Developing new medication is very expensive. So, researchers wanted to explore whether any existing medications could work for Dravet syndrome.

An initial project screened around 300 compounds. Since then, more than 3,500 existing drugs have been screened in these zebrafish.

There were some exciting findings.

In the zebrafish trials, clemizole significantly reduced seizure activity. Clemizole is an antihistamine. It hasn’t really been used since the 1950s, when more effective options came along.

The next step is seeing if it works in humans with Dravet syndrome. Since clemizole had previous FDA approval, human trials were able start sooner. They began in late 2020.

Since that initial discovery, three more compounds have showed promise for Dravet syndrome. Some derivatives of clemizole also reduced seizures in the SCN1A modified zebrafish.

Researchers need funding to turn great ideas into reality.

There’s often a shortage of money in the research world. This is especially true for many projects in the very early stages of research. That’s why they need a funding boost to get started.

DSF is dedicated to providing money for research.

“A primary pillar of our organization’s mission is to fund research,” explains Meskis. “We offer four different grant mechanisms, and since our inception in 2009, we have awarded just over $4.95 million in research grants.”

The money available for the research grants comes directly from fundraising.

The grants are intended to advance early stages of research.

Grant money from DSF allows researchers an opportunity to further develop their projects. Many are eventually able to apply for larger government grants. This wouldn’t be possible without the initial financial support of DSF.

The DSF Scientific Advisory Board reviews all grant applications. Many factors are considered. These include:

  • innovation
  • chance of success
  • the quality of the science

Research into Dravet syndrome can lead to breakthroughs for other forms of epilepsy.

Any organization that works to raise money knows there can be challenges. With a rare condition, it can be even tougher.

People who are most affected by Dravet syndrome are usually the most involved.

“The biggest challenge for a rare disease community is that our families all have a child that requires round-the-clock care”, says Meskis. “Our parents are exhausted and stretched thin already, so to ask them to help support our fundraising efforts can feel like a lot.”

DSF does its best to make it easier for families to raise awareness and money. The foundation offers tools and resources to support families in planning their own events. If someone has a great idea to raise money, DSF can be actively involved in the planning.

June is Dravet Syndrome Awareness Month, but there are events planned year-round. The DSF website offers information and support for a wide range of creative fundraising ideas.

One event is called “Give Up Your Cup.” This fundraiser encourages people to skip their daily takeout coffee or tea for a day, week, or month and donate that money to DSF instead.

There have also been galas, runs, casino nights, and virtual pajama parties.

“So often our families say it is difficult to deal with the unknowns of this disease,” says Meskis.

Being a part of DSF’s fundraising work makes loved ones feel like they’re actively helping. When the money leads to promising discoveries, it’s even better.

Baraban has great appreciation for DSF and the people who believed in him and his team.

“We are grateful to the families for raising money and putting their faith in us to do this kind of research,” he says.

Advances in disease research happen when a network of passionate people share the same goal.

There are dedicated, caring people who organize fundraising events. Others contribute their energy and money to these fundraisers. There are foundation staff and board members. There is the Science Advisory Board that makes decisions about grants. Scientists themselves develop cutting-edge ideas and pour time and energy into their research.

Great discoveries can be made when everyone is working together. When you give your time, energy, ideas, or money to a cause that you care about, it matters.