Vietnamese Wins Kovalevskaya Award for Prenatal Diagnosis of Duchenne MD

Research supporting prenatal diagnosis of Duchenne muscular dystrophy (DMD) has earned Vietnamese scientist Tran Van Khanh a Kovalevskaya Award.

Khanh has focused her work on studying gene therapy and prenatal diagnosis of genetic disorders.

Germany’s Alexander von Humboldt Foundation makes the annual Kovalevskaya Awards to women scientists in several developing countries. They are named for Sofia Kovalevskaya, a 19th Century Russian mathematician. She studied in Germany and became the first woman to hold a full professorship in Northern Europe — at Stockholm University.

Duchenne MD is the most common form of over 30 types of muscular dystrophy. It affects about one in every 3,500 newborn boys. Symptoms typically begin between the ages of 1 and 6, and include weakening of muscles in the shoulders, hips, and pelvis.

A steady deterioration of muscle strength and function occurs over time. Patients ultimately develop breathing and heart problems as early as the teenage years.

The disease is caused by a genetic mutation of the DMD gene, which leads to insufficient amounts of dystrophin, a key protein for structural support of muscle fibers.

Khanh’s work helps detect the genetic defects before Duchenne MD symptoms appear. The gene therapy that she developed has already been performed in 1,000 patients and their family members.

Khanh is a professor, investigator and head of the Faculty of Molecular Pathology at Hanoi Medical University.

A Kovalevskaya Award also went to another Vietnamese, Thi Bich Lan. Her research has included the study of disease-related antigens and vaccines in livestock.

The Kovalevskaya fund operates in eight countries in Asia, Africa, and Latin America. The 2017 awards were given on March 6, 2018.

Ongoing research programs in Duchenne MD are evaluating approaches to reduce inflammation or target faulty RNA production in the first step of gene expression.

The only medication approved by the U.S. Food and Drug Administration (FDA) for the treatment of DMD is Sarepta Therapeutics’ Exondys 51 (eteplirsen). It targets RNA to skip the DMD-causing gene mutation. The FDA approved Exondys 51 in September 2016.