Nonsense Mutation Correction in Human Diseases

Dr. Fabrice Lejenue studies the mechanisms that regulate or deregulate the quality control of protein synthesis with the aim to one day utilize these mechanisms to chemically treat diseases such as cystic fibrosis, muscular dystrophy and cancer. He studied under Dr. Lynne Maquat, Director, Center for RNA Biology, and the scientist responsible for discovering the control mechanism messenger RNA carrying nonsense mutations in mammals. Dr. Lejeune continues this work at his lab at the Pasteur Institute. Hana is a PhD student working with Dr. Fabrice Lejeune. She obtained her Master’s degree in Genetics, in 2014, at the University of Lille in France. Prior coming to Lille, Hana did a biological engineering degree at Boumerdès University in Algeria. She acquired biomedical and biotechnological knowledge that she applies during her PhD. By coupling her engineering and research training, Hana is currently identifying new drugs correcting a nonsense mutation with a focus on their application in clinics to promote the expression of normally unexpressed proteins in these types of pathologies. Jieshuang Jia is a postdoc fellow studying NMD at the institute of biology of Lille (France) since June 2015. Prior to her postdoc, she achieved her PhD at the University of Lille 2 by studying molecules with nonsense mutation correction capacity. She also got a bachelor of clinical medicine in the Second Military Medical University in July 2004 and a master of internal medicine in the Nephrology Institute of Changzheng Hospital in Shanghai, (China) with a specialty in Nephrology in June 2007. She has won several first class awards and has been the merit student for several times. She has worked in clinic for more than four years and received the advanced hospital worker status. During her clinic time from August 2007 to October 2011, she directed the students’ internships and taught them the diagnosis and treatment of diseases. She also performed some clinical studies on diseases such as polycystic kidney disease, chronic kidney disease with some relation with nonsense mutations until 2011. Her interest focused on new diagnostic methods and therapies of diseases. Now she is studying on NMD and would like to promote a strong interaction between nonsense mutation correction and clinic diseases.

1. General aspects related to nonsense mutations2. Pathologies susceptible to be targeted for nonsense mutation therapies3. Strategies to correct nonsense mutations4. Conclusions