A groundbreaking study at the University of Rhode Island (URI) is exploring innovative treatments for a rare genetic disorder, Fanconi Anemia Neurological Syndrome (FANANS). This condition, often linked to birth defects, blood disorders, and cancers in children and adolescents, has recently been found to significantly impact neurological health.
The study, led by Professor Niall Howlett, began with a patient who experienced a sudden neurological manifestation after a minor fall, despite no apparent physical injury. This patient, who had Fanconi anemia and undergone a bone marrow transplant, couldn't walk again. Howlett noted an increasing incidence of similar neurological issues in FA patients, possibly due to improved treatments for the initial ailments of Fanconi anemia, allowing patients to live longer and uncover these new symptoms.
Howlett, in collaboration with neuroscientist Belinda Barbagallo from Salve Regina University, is using computational genomics and C. elegans, a transparent roundworm with a well-characterized nervous system, to study the connections between FANANS and nervous system development and decline. By genetically modifying C. elegans to carry FA gene mutations, the team can track the development and decline of their nervous systems using fluorescence microscopy. They can even observe individual neurons and their responses to various treatments.
The researchers also perform behavioral experiments, such as counting the number of times the worms reverse, which is controlled by specific neurons. They also test the worms' sensory perception by placing them in dishes with various chemicals that attract or repel them. Additionally, Howlett measures feeding behaviors by placing the worms in petri dishes coated with their preferred bacteria and testing their ability to find food.
By understanding the behaviors and responses of these genetically modified worms, Howlett aims to identify proteins or pathways that affect specific neurons and influence neurological behavior. This could lead to the development of drugs that target these proteins or pathways, potentially treating FANANS and improving the quality of life for affected patients.
