genetic research

Discovery moves scientists a significant step closer to preventing blindness. Scientists have created the first genetic research model for a microscopic part of the eye that when missing causes blindness.

The research appears in the Journal of Biological Chemistry.

Researchers at Johns Hopkins have discovered that two clinically different inherited syndromes are in fact variations of the same disorder.

The scientists suggest that at least for this class of disorders, the total number and "strength" of genetic alterations an individual carries throughout the genome can generate a range of symptoms wide enough to appear like different conditions.