On the Verge of Breakthrough

A family sits on the stone steps, including a daughter with AngelmansThe frequent smiles and ready laughter of patients with Angelman syndrome mask the rare neurological disorder’s more serious symptoms. Severely developmentally disabled, most can’t talk and begin to walk at a later age with an awkward, jerky gait and often flap their hands.

“There’s a lot of attention on Angelman syndrome right now. It’s poised to be one of the first neurodevelopmental disorders where we have a potentially transformative treatment,” said pediatrician Dr. Liz Jalazo, chief medical officer at the Angelman Syndrome Foundation and assistant professor of pediatric genetics and metabolism in the UNC School of Medicine.

That’s especially important to Jalazo because she is also the mother of 8-year-old Evelyn, diagnosed with Angelman syndrome just before her first birthday.

One of the first calls Jalazo made after the diagnosis was to Carolina, her alma mater. Specifically, she wanted to speak to leading Angelman researcher Ben Philpot, Kenan Distinguished Professor of cell biology and physiology in the School of Medicine and associate director of the UNC Neuroscience Center.

Today, Philpot’s lab is looking at two approaches to treating Angelman syndrome, one using traditional gene therapy and the other using techniques to reactivate a dormant gene. The gene therapy approach uses a virus to replace the defective gene with a healthy one.

The reactivation approach is more particular to Angelman syndrome. A baby is born carrying two copies of the UBE3A gene, one from each parent. In Angelman, the active copy from the mother mutates spontaneously. But what about the non-mutated copy from the father?

Inspired by the research done at Carolina, three drug companies are currently running clinical trials on reactivating the dormant paternal copy of the gene.

“There’s never been a more hopeful time to have a child diagnosed with Angelman syndrome,” said Jalazo.

Read more about Carolina’s history of research on Angelman syndrome…

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    string(2409) "The Writing and Learning Center provides personalized academic coaching and resources to help students succeed. Programs include both writing and academic coaching, peer tutoring, study groups, test prep, online resources, English language support and more. On its oft-visited website, the center offers advice on common writing and studying challenges, such as thesis statements, the use of passive voice and how to deal with procrastination.

Private support for the Writing and Learning Center during the Campaign for Carolina has the potential to impact every student. Donors during the campaign laid the groundwork to relocate the center from the southern end of UNC’s campus to the centrally located Robert B. House Undergraduate Library.

“The Writing and Learning Center provides personalized academic support that matches the rigor of UNC, and we seek to meet students where they are,” said Kim Abels, director of the Writing and Learning Center. “We are grateful to the library for this partnership, which will give students access to services in one convenient spot.”

Mike and Laura Grace gave the first gift to set up a relocation fund in 2018. The Graces became acquainted with the center during their son Patrick’s first-year orientation. Patrick graduated in 2019, but Laura Grace continues to serve on the center’s advisory board.

“A large population of UNC students, no matter their major or level of academic performance, uses these services,” she said in 2019. “We’re in a diverse learning and cultural environment, and there’s nothing more important than improving how we communicate, being open to others and appreciating our strengths and weaknesses.”

Michael Stutts ’02, a donor and member of the center’s advisory board, has also supported the relocation fund and is dedicated to building awareness of the center’s comprehensive services.

“I want every student who goes to UNC to get the same enriching experience that I did,” he said. “I’m passionate about creating that boost for people who need it.”

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    string(2233) "Chris stands with his mother, Lynn HallChris Hall ’23 took a low point in his life and turned it into something positive, all in memory of his mother, Lynn, who died of triple negative breast cancer in 2018 at age 47. With a head for business and a drive to help others, Hall is working with the North Carolina Basnight Cancer Hospital to help fund a Parenting with Cancer Clinic through the hospital’s Comprehensive Cancer Support Program.

CCSP provides support to patients and their families, from diagnosis to treatment and into survivorship, and its goal is to help families just like Hall’s.

Hall, a business major who graduated in spring, has already put his business savvy to work, amassing more than $1.5 million in sales from his online enterprises, monetizing advertising on his social media channels and selling those for a profit — all to keep a promise he made to his mother when she was diagnosed with breast cancer.

“She was declared in remission when I was in eighth grade, and it sparked a little fire,” he said. “It made me think a little bit. I promised myself that I’d pay off her mortgage before I’m 25.”

After his mother passed, Hall wanted to find a way to repurpose his goal. He created the Lynn Hall Parenting with Cancer Clinic Fund to honor her.

The clinic’s mission is twofold: 1) to help cancer patients with minor children talk to their children openly and honestly about their cancer; and 2) to help with legal issues that can accompany cancer, such as end-of-life decisions, wills, trusts and custody agreements.

“Putting your affairs in order does not mean giving up hope. It’s a gift to your family to have a plan. Rather than worrying about what might happen, patients can have peace of mind that their families will be taken care of,” said Cindy Rogers, director of patient assistance at CCSP.

Read more about the Parenting with Cancer Clinic…"
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    string(2109) "Photo of Lindsey JamesLindsey James came to Carolina to get her PhD in 2005 and never left.

Eighteen years later the chemist runs a lab in the UNC Eshelman School of Pharmacy exploring medicinal chemistry and epigenetics with the goal of making strides in cancer care and treatment. It’s a method of research defined as translational — bridging the gap between promising early-stage science and the development of products and services that benefit society.

James and her team develop small molecules that target specific proteins believed to play roles in the development of cancers. These small-molecule tools could be useful against an array of cancers.

The continuous development of new molecules requires funding and resources. This part of project development diverts time and energy from conducting the research itself. Grant writing and editing along with back-and-forth communications with funding agencies can take months, even years.

James has found great success in internal Carolina grants, built to reduce the struggle in obtaining funds to advance research. She has secured funding and support from multiple other research translation resources at Carolina, all the while receiving support and guidance from AdvanTx, an initiative to advance therapeutics research from the Office of the Vice Chancellor for Research.

While James currently has two major National Institutes of Health (NIH) grants that sustain her work, these additional Carolina resources have given her a break from applying for more federal funding.

“The research space I’m in is competitive,” James said. “I was worried that if I only focused on securing NIH funding then I may lose my window of discovery because it takes a long time for NIH grants to get reviewed, approved and funded.”

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