By: Cheryl Smith, PhD
FDA approves first drug for Duchenne muscular dystrophy
The Food and Drug Administration (FDA) approved a drug, Exondys 51, to treat Duchenne muscular dystrophy, a rare, debilitative disease that destroys muscle and confines boys to wheelchairs and eventually death. The decision was made by the FDA in opposition to its own medical staffers who questioned the effectiveness of the drug. One of the key issues medical staffers were concerned about was whether the drug can produce a sufficient amount of a protein called dystrophin to reverse muscle damage and, as a consequence, overall mobility and strength.
However, patients and their families lobbied hard for drug approval. Laura McLinn, an Indiana mother whose 7-year-old son has Duchenne muscular dystrophy, was in tears Monday when she heard the news of the drug’s approval. “I’m really overwhelmed,” McLinn said. “We’ve been waiting a long time to hear this.”
In reaching its decision, the agency essentially overruled its own medical staffers, who earlier this year questioned the effectiveness of the drug over concerns about a small clinical trial. The wrangling raised still larger questions about standards for approving a drug, but some FDA officials also acknowledged that unmet medical needs for patients with some rare diseases warranted endorsement under a program known as accelerated approval. (Ed Silverman, Scientific American)
Biotechnology and Forensics
DNA breakthrough finally gives ‘a face to this crime.’ But can it solve a woman’s 1992 murder?
Lisa Ziegert was murdered in 1992 and her killer was not found, however, a sliver of her attacker’s DNA was recovered. But that DNA lead went cold – like all the other evidence in the case. Now, prosecutors say that the DNA left by Ms. Ziegert’s attacker has given them a new lead in the case as well as a face. The Reston-based company Parabon Nanolabs has developed a new technology that uses DNA to make predictions about the suspect’s ancestry, eye color, hair color, skin color, freckling, and face shape. The DNA technology uses these characteristics to reconstruct faces based on DNA characteristics.
In the past, DNA has typically been used as a biometric identifier capable of identifying individuals with great certainty. Now, this technology can literally put a face to a crime.
Ms. Ziegert’s killer, according to Parabon, was likely a man of European descent with hazel eyes and brown or black hair. For the first time in twenty-four years, we have a face to this crime,” Hampden District Attorney Anthony Gulluni said in a statement released Wednesday. “The technology we have put to use is at the leading edge of the industry. No expense, effort, or means will be spared to bring the person(s) to justice who killed Lisa. We will never forget her.” (Cleve R. Wootson Jr., The Washington Post)
Yoshinori Ohsumi of Japan wins Nobel prize for study of ‘self-eating’ cells
Dr. Yoshinori Ohsumi, a Japanese cell biologist, was awarded the Nobel Prize in Physiology or Medicine on October 3, 2016 for his discovery of autophagy – a Greek term for “self-eating”. It is a crucial process for cellular survival. During starvation, cells are able to break down proteins and reuse them for energy internally running their recycling plant for survival. Autophagy is also critical during infections and can serve to protect the cell by destroying invading viruses or bacteria and then sending them for recycling. Cells can also use autophagy to get rid of damaged protein structures. In diseases such as cancer, neurodegenerative disorders, or immunological diseases, autophagy is thought to be defective. The importance of this cellular recycling mechanism was not known until Dr. Ohsumi studied the process in baker’s yeast in the 1990s.
Dr. Ohsumi received his Ph.D. from the University of Tokyo in 1974 in molecular biology. His ‘unimpressive’ Ph.D. thesis made it difficult for him to find a job. His advisor suggested a postdoctoral position at Rockefeller University in New York where he was to study in vitro fertilization in mice. Because Dr. Ohsumi grew ‘very frustrated’ he switched to studying the duplication of DNA in yeast. This work led him to a junior professorship at the University of Tokyo where he began his autophagy work. Dr. Ohsumi later moved to the National Institute for Basic Biology, in Okazaki, and since 2009, has been a professor at the Tokyo Institute of Technology.
“All I can say is, it’s such an honor,” Dr. Ohsumi told reporters at the Tokyo Institute of Technology after learning he had been awarded the Nobel, according to the Japanese broadcaster NHK. “I’d like to tell young people that not all can be successful in science, but it’s important to rise to the challenge.” (Gina Kolata and Sewell Chan, New York Times)
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