Recommended Readings: Anna Wedell, M.D., Ph.D., Friday November 2, 2018

Friday Lectures

Friday, November 2, 2018  3:45 p.m.

Caspary Auditorium

Anna Wedell, M.D., Ph.D.


Department of Molecular Medicine and Surgery

Karolinska Institute


Clinical Whole Genome Sequencing Sheds Light on Novel Metabolic Pathways in the Brain


Recommended Readings:

Empirical Articles

Baric, Ivo; Staufner, Christian; Augoustides-Savvopoulou, Persephone; et al. (2017). Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders. JOURNAL OF INHERITED METABOLIC DISEASE. 40 (1): 5-20

Siibak, Triinu; Clemente, Paula; Bratic, Ana; et al. (2017). A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma.  26 (13): 2515-2525

Dahlin, Maria; Martin, Daniel A.; Hedlund, Zandra; et al. (2015). The ketogenic diet compensates for AGC1 deficiency and improves myelination. EPILEPSIA. 56 (11): e176-e181

Brownstein, Catherine A.; Beggs, Alan H.; Homer, Nils; et al. (2014). An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. GENOME BIOLOGY. (15) 3

Stranneheim, Henrik; Engvall, Martin; Naess, Karin; et al. (2014). Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism. BMC GENOMICS. 15

Gidlof, Sebastian; Falhammar, Henrik; Thilen, Astrid; et al. (2013). One hundred years of congenital adrenal hyperplasia in Sweden: a retrospective, population-based cohort study. LANCET DIABETES & ENDOCRINOLOGY. 1 (1): 35-42

Bjursell, Magnus K.; Blom, Henk J.; Cayuela, Jordi Asin; et al. (2011). Adenosine Kinase Deficiency Disrupts the Methionine Cycle and Causes Hypermethioninemia, Encephalopathy, and Abnormal Liver Function. AMERICAN JOURNAL OF HUMAN GENETICS. 89 (4): 507-515

Wibom, Rolf; Lasorsa, Francesco M.; Tohonen, Virpi; et al. (2009). AGC1 Deficiency Associated with Global Cerebral Hypomyelination.  NEW ENGLAND JOURNAL OF MEDICINE. 361 (5): 489-495

Recommended Readings: Vamsi Mootha, M.D. Friday November 17th, 2017

Friday Lectures

Friday, November 17, 2017  3:45 p.m.

Caspary Auditorium

Vamsi Mootha, M.D.


Systems Biology and Medicine

Harvard Medical School and Massachusetts General Hospital

Genome-scale Approaches to Mitochondrial Disease

Recommended Readings:

Science News

Howard Hughes Medical Institute. (2017, May 8). Low oxygen reverses mitochondrial disease in mice. ScienceDaily

Empirical Articles

Ferrari, Michele; Jain, Isha H.; Goldberger, Olga; et al. (2017). Hypoxia treatment reverses neurodegenerative disease in a mouse model of Leigh syndrome. PNAS. 114 (21): E4241-E4250

Jain, Isha H.; Zazzeron, Luca; Goli, Rahul; et al. (2016). Hypoxia as a therapy for mitochondrial disease. SCIENCE. 352 (6281): 54-61  

Titov, Denis V.; Cracan, Valentin; Goodman, Russell P.; et al. (2016). Complementation of mitochondrial electron transport chain by manipulation of the NAD(+)/NADH ratio. SCIENCE. 352 (6282): 231-235

Calvo, Sarah E.; Clauser, Karl R.; Mootha, Vamsi K. (2016). MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins.  NUCLEIC ACIDS RESEARCH. 44 (D1): D1251-D1257

Lake, Nicole J.; Bird, Matthew J.; Isohanni, Pirjo; et al. (2015). Leigh Syndrome: Neuropathology and Pathogenesis. JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY. 74 (6): 482-492  

Lieber, Daniel S.; Calvo, Sarah E.; Shanahan, Kristy; et al. (2013). Targeted exome sequencing of suspected mitochondrial disorders. NEUROLOGY. 80 (19): 1762-1770

Calvo, Sarah E.; Compton, Alison G.; Hershman, Steven G.; et al. (2012). Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing. SCIENCE TRANSLATIONAL MEDICINE. 4 (118)

Calvo, S; Jain, M; Xie, XH; et al. (2006). Systematic identification of human mitochondrial disease genes through integrative genomics. NATURE GENETICS. 38 (5): 576-582

Review Papers

Kamer, Kimberli J.; Mootha, Vamsi K. (2015). The molecular era of the mitochondrial calcium uniporter.  NATURE REVIEWS MOLECULAR CELL BIOLOGY. 16 (9): 545-553

Vafai, Scott B.; Mootha, Vamsi K. (2012). Mitochondrial disorders as windows into an ancient organelle. NATURE. 491 (7424): 374-383

Book Chapter

Calvo, Sarah E.; Mootha, Vamsi K. (2010). The Mitochondrial Proteome and Human Disease. ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS. Book Series: Annual Review of Genomics and Human Genetics. 11: 25-44