Alexandra Butler, Pompe disease patient, teacher and member of the Canadian Association of Pompe (CAP) talks with Naresh Kumar Meena, PhD and Nina Raben, PhD from the National Institutes of Health (NIH) in Bethesda, Maryland about their latest review article “Pompe Disease: New Developments in an Old Lysosomal Storage Disease”.
Drs. Meena and Raben are leading preclinical researchers at the NIH. Their ground-breaking work has led to a better understanding of the pathophysiology of Pompe disease and newer models to test developing treatments.
Some of the topics covered in this in-depth conversation include a brief history of when Pompe disease was discovered, current Pompe disease research studies being conducted at the NIH, and the recognition of a new phenotype for Pompe disease following the introduction of enzyme replacement therapy.
To download the full article by Drs Meena and Raben, go to https://www.mdpi.com/2218-273X/10/9/1339
About Nina Raben, PhD
Nina Raben was born in Moscow, Russia (the former Soviet Union). She received her medical degree from the Moscow Medical Institute, and her PhD degree in Biochemistry from the Academy of Medical Science, Moscow. She joined NIDDK in 1987, and since 1990 has been working on inflammatory and metabolic myopathies at the NIH. The major focus of her research is Pompe disease. The studies include: mutational analysis of the gene and development of several knockout and transgenic mouse models of Pompe disease; pre-clinical studies with recombinant human enzyme and investigation of the role of autophagy in the pathogenesis of the disease; and identification of mTOR kinase and transcription factors EB and E3 as potential therapeutic targets in Pompe disease.
About Naresh Kumar Meena, PhD
Naresh Kumar Meena was born in Rajasthan, India. He received his master’s degree in Microbiology from University of Rajasthan and his PhD Degree in Life Sciences from Jawaharlal Nehru University (JNU), New Delhi. After completing his PhD, he moved to Israel for postdoc training at Hadassah Medical Center, Hebrew University of Jerusalem (HUJI), where he investigated the role of mTOR signaling in metabolism and lymphocyte proliferation. He joined the NIH in 2018. At the NIH, his work is focused on Pompe disease. His current project is aimed at understanding the pathogenic cascade of muscle damage and exploring new therapeutic approaches for Pompe disease