UD researchers discover technique for repairing gene defect that causes spinal muscul...( Researchers at the University of Del...),Health

Researchers at the University of Delaware have discovered a novel technique--that acts like a spell-checker for correcting a misspelling in the DNA code--to repair the defective gene that causes spinal muscular atrophy (SMA). This hereditary neuromuscular disease is the number-one genetic killer of children under two years old.

Babies born with Type 1 SMA, the most severe form of the disease, can't walk, crawl, sit unsupported, lift their heads, or breathe normally. Fifty percent die before their second birthday.

The research is published in the Jan. 14 online edition of Experimental Cell Research. The study was supported by $477,500 in National Tobacco Settlement funds to the state of Delaware. The research grant was awarded through the Delaware Health Fund.

Think of it like a spell-check program--we're erasing the wrong letter in the DNA code and putting the right one in, said Eric Kmiec, professor of biological sciences at UD.

Kmiec, who holds 14 patents for gene-editing technologies at the University, collaborated with research scientist Darlise DiMatteo and undergraduate Stephanie Callahan on the discovery in his laboratory at the Delaware Biotechnology Institute.

The technique has shown promising results in tests in mice and is now poised for development by OrphageniX Inc., based in Wilmington, Del. The start-up company was incorporated in 2005 to commercialize UD-patented technologies for repairing genes that cause rare, hereditary, orphan diseases, so named because they have not been adopted by the pharmaceutical industry for the development of treatments.

According to the Families of Spinal Muscular Atrophy, an international, nonprofit organization, the disease affects one in 6,000 babies born, and one in 40 people is a genetic carrier.

Spinal muscular atrophy is caused by a mutation in the SMN1 gene, which affects the motor neurons, the nerve cells
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