Michael Mcmahon

Biography

BIOGRAPHICAL SKETCH: Ann Moser received a bachelor’s degree in biochemistry in 1961 from Radcliffe College. During the time she was an undergraduate, she was a technician in Dr. Konrad Bloch’s laboratory at Harvard University. After working as a technician in laboratories in different hospitals, Moser joined the John F. Kennedy Institute (later Kennedy Krieger Institute) in 1976 as a senior technician. In 1982, she became an assistant in neurology. Since 1991, Moser has been working as a research associate in neurology. She is a co-director of the Peroxisomal Diseases Laboratory in the Hugo W. Moser Research Institute at the Kennedy Krieger Institute. RESEARCH SUMMARY: The peroxisomal diseases laboratory receives approximately 100 blood samples per week for the analysis of total lipid fatty acids, including the very long chain fatty acids, essential fatty acids and branched chain fatty acids. Individuals with increased plasma, very long chain fatty acids and or branched chain fatty acids have disorders of peroxisomal metabolism. The peroxisomal disorders include patients with X-linked adrenoleukodystrophy (ALD), the Zellweger spectrum disorders, rhizomelic chondrodysplasia punctata and adult Refsum’s disease. Under the leadership of Ali Fatemi, we are measuring the plasma and red blood cell fatty acids to follow the dietary therapy of peroxisomal disorders with oils such as Lorenzo’s oil and fish or algae oils (high w3 fatty acid oils). We are assisting Paul Watkins with high through-put drug screening by LC-MSMS to discover new treatments for ALD. For research collaborators from the Kennedy Krieger Institute, Johns Hopkins and/or medical centers outside of Baltimore, we measure plasma and red blood cell fatty acids in patients with other diseases such as retinitis pigmentosa, heart disease, cystic fibrosis, type 2 diabetes, chronic seizure disorders, Downs syndrome, ADHD, Alzheimer disease, kidney transplant recipients and autism. In addition to our human fatty acid analyses, we provide fatty acid analyses for various transgenic mouse models including the Zellweger mouse, the X-linked adrenoleukodystrophy mouse and the obese mouse. We and our colleagues developed and validated the newborn screening test for ALD. Together with the MD State newborn screening laboratory, we completed the pilot study of 5000 newborns with no positives. In December 2013, New York state started ALD newborn screening. As of August 2016, with approximately 630,000 newborns screened, they have identified 22 males and 20 females with ALD. In August 2015 the Secretary’s Advisory Committee voted to add ALD newborn screening to the recommended uniform screening panel in the USA. Connecticut started screening for ALD in December 2015 and California began ALD newborn screening in September 2016. Other states will add ALD newborn screening once legislation, budgetary, and follow-up resources are in place.

Research Interest

Neurology