Gene therapy for pulmonary dysfunction in Pompe disease found safe in human trial

A gene therapy that treats respiratory problems in early-onset Pompe disease wasshown to be safe during its first human trial, UF Health researchers have found. The therapy uses a harmless adeno-associated virus to deliver a functional copy of the affected gene to muscle cells in the diaphragm of patients who have respiratory troubles. Nine patients completed a trial that found the therapy agent produced no adverse effects and improved respiratory function in the study participants. Pompe disease is an incurable disorder that affects about one of every 40,000 people worldwide. The inherited disease causes a complex sugar to accumulate in cells, leading to abnormal function in muscles and nerve cells. — Doug Bennett

UF Health researchers target little-known brain cell disorder

A group of UF Health researchers are using cells from patients and patients’ family members to learn more about the effects of asparagine synthetase deficiency, or ASD. The disorder is caused by the lack of an enzyme and keeps brain cells from developing and growing normally. ASD causes children to have a small head and brain as well as epilepsy-like seizures and other problems, according to Michael S. Kilberg, Ph.D., and Robert McKenna, Ph.D., both biochemistry professors in the UF College of Medicine. Because there is no simple test for ASD, each child who is known to have the disease has been identified through genetic sequencing. Researchers hope to develop a test for ASD and possibly a way detect it before a child is born. — Doug Bennett

Blood pressure drug holds promise for preventing onset of Type 1 diabetes

Researchers working with a University of Florida supercomputer have discovered that methyldopa, a drug used to control high blood pressure, also might help
prevent or delay the onset of Type 1 diabetes. Some 60 percent of people at risk of getting Type 1 diabetes have the DQ8 molecule, which increases the chance of
getting the disease. After running thousands of drugs through the supercomputer, researchers found that methyldopa not only blocked DQ8, it also didn’t harm the immune function of other cells like many immunosuppressant drugs do. — Bill Levesque