For people with blue cone monochromacy, the world is blurry, colorless and uncomfortably bright. UF Health researchers have used a gene therapy to restore visual functions to affected cone photoreceptor cells during tests in mice. The disease is caused by defective genes that affect red and green cone photoreceptors in the retina, leaving patients with only blue color receptors. Researchers used an adeno-associated virus to deliver human genes into mutant mouse retinas. The treatment restored cone electroretinography in up to 70 percent of the mice with normal vision.

UF Health researchers have found a way to detect faulty, repeating genetic sequences much sooner with a blood test. Key to the findings are introns, a part of genes generally not involved in protein formation. In one type of inherited form of ALS and other so-called repeat expansion disorders, mutant introns that are normally removed before protein production get left behind. For some of these disorders, the lingering mutant introns can be readily detected in tissue and white blood cells — creating a rapid and inexpensive way to detect repeat expansion disorders, the researchers found.

Long-term use of a class of drugs that suppress stomach acid is linked to a higher risk of hospitalization for cystic fibrosis patients, who are widely prescribed the medications, according to UF Health researchers. The study looked at acid-suppressive drugs called proton pump inhibitors, or PPIs, which are used to treat reflux, heartburn, ulcers and other conditions. A review of the medical history of 114 patients found those using the PPIs long term were more often hospitalized for complications of the disease than those patients not on the drugs.