Novel Gene-Repair Technology Under Development

Eric Kmiec, professor of biological sciences, and Hetal Parekh-Olmedo, senior research associate, both in the UD College of Arts and Sciences, co-founded and incubated OrphageniX at UD's Delaware Biotechnology Institute in the Delaware Technology Park in 2005.

Kmiec holds 14 UD patents for gene-editing technologies and is widely regarded as a pioneer in the field.

There are more than 5,000 rare or “orphan” diseases, so named because each affects fewer than 200,000 people nationwide. A number of these diseases are caused by a single-point mutation in a gene--which is like a spelling error, a single “letter” out of place, in its DNA code. The DNA nucleotide adenine (A), for example, might be replaced by guanine (G), cytosine (C) or thymidine (T).

Kmiec and Parekh-Olmedo discovered a way to introduce a tiny fragment of DNA into a diseased cell to replace the defective portion, triggering the cell to heal itself.

This method, which focuses on correcting a patient's genes to make their own proteins, offers a safer approach than treating a patient's genes with foreign genes or protein replacements, and eventually may lead to cures for rare diseases, according to Michael Herr, president and chief executive officer of OrphageniX.

Herr previously was the director of science and technology at the University City Science Center of Philadelphia. Sickle cell anemia and spinal muscular atrophy are among the diseases that OrphageniX is targeting, according to Herr.

Sickle cell anemia affects an estimated 72,000 Americans, mostly African Americans. Those afflicted with the disease produce sickle- or crescent-shaped blood cells instead of smooth, round blood cells. These “sickle cells” tend to get stuck in the blood vessels, blocking the flow of blood to the limbs and organs, often causing pain, organ damage and anemia in the process.

Spinal muscular atrophy is a genetic disease caused by the progressive degeneration of motor neurons in the spinal cord, resulting in weakness and wasting of the voluntary muscles. Weakness is often more severe in the legs than in the arms. The disease affects approximately one in 6,000 babies, and about one in 40 people are genetic carriers, according to Families of Spinal Muscular Atrophy.

Herr said the company's immediate strategy is to advance the new technologies to clinical trials, assemble a leadership team around its UD founders, and identify strategic partners.