Sanford receives grant to study neurological abnormalities

Contact:

Jon Berg
Sanford Health Media Relations
605-366-2432 / Jon.Berg@SanfordHealth.org

SIOUX FALLS, S.D., Aug. 28, 2023Abdelhalim Loukil and his lab of researchers at Sanford Research recently received a $2 million grant from the National Institute of General Medical Sciences (NIGMS, NIH). The focus of the five-year grant will be to investigate the molecular processes that modulate primary cilia dynamics and neural signaling in normal and pathological conditions.

Primary cilia are antenna-like sensory organelles that are essential for signal transduction and embryonic development. Cilia dysfunction causes a broad range of developmental disorders in humans, commonly known as ciliopathies.

Their prevalence is one per 2,000 individuals, with at least 190 known mutated ciliary genes. Patients with mutations in ciliary genes often have severe neurological abnormalities ranging from brain malformations to cognitive impairment.

“Even though patients with ciliopathies often suffer from severe neurological symptoms, we are still behind in understanding the roles of these tiny antennas, called primary cilia, present on our brain cells,” said Dr. Loukil. “For a long time, cilia have been understudied in the brain. Fortunately, my lab is coming online to begin tackling this vast lack of knowledge in the neuroscience field. Of course, we are not alone, and other national and international teams are now focusing on the emerging link between primary cilia and the brain. More importantly, we intend to determine how and why a cilium becomes pathogenic in brain illnesses, causing behavioral abnormalities and neurological disorders.”

The lab will focus on three major components:

Only about 5% of the more than 10,000 rare diseases have effective treatments. Attempts to develop therapeutics for these conditions remain difficult due to the limited number of affected individuals and the lack of viable commercialization potential. Dr. Loukil and his lab at Sanford Research are working to establish the molecular underpinnings of primary cilia regulation and its connections to the human brain and behavior.

These efforts are expected to advance novel therapeutic strategies that deploy the tiny antenna as a therapeutic target and an efficacious driver that could benefit patients with rare diseases and help improve their neurological symptoms.

For more information about Sanford Research, visit Research.SanfordHealth.org.

About Sanford Health
Sanford Health, the largest rural health system in the United States, is dedicated to transforming the health care experience and providing access to world-class health care in America’s heartland. Headquartered in Sioux Falls, South Dakota, the organization serves more than one million patients and 220,000 health plan members across 250,000 square miles. The integrated health system has 47 medical centers, 2,800 Sanford physicians and advanced practice providers, 170 clinical investigators and research scientists, more than 200 Good Samaritan Society senior care locations and world clinics in 8 countries around the globe. Learn more about Sanford Health’s commitment to shaping the future of rural health care across the lifespan at sanfordhealth.org or Sanford Health News.