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: Stephen Quake, Ph.D. November 12

Special Seminar Series
Wednesday, November 12, 2014,
4:00 p.m., Carson Family Auditorium (CRC)

Stephen Quake, Ph.D.
Lee Otterson Professor,
Bioengineering and Applied Physics,
Stanford University
Howard Hughes Medical Institute

Single Cell Genomics

Recommended Readings

Empirical Papers

Ashley, E. a, Butte, A. J., Wheeler, M. T., Chen, R., Klein, T. E., Dewey, F. E., … Altman, R. B. (2010). Clinical assessment incorporating a personal genome. Lancet, 375(9725), 1525–1535. doi:10.1016/S0140-6736(10)60452-7

Fan, H. C., Gu, W., Wang, J., Blumenfeld, Y. J., El-Sayed, Y. Y., & Quake, S. R. (2012). Non-invasive prenatal measurement of the fetal genome. Nature, 487(7407), 320–324. doi:10.1038/nature11251

Pushkarev, D., Neff, N. F., & Quake, S. R. (2009). Single-molecule sequencing of an individual human genome. Nature Biotechnology, 27(9), 847–850. doi:10.1038/nbt.1561

Wang, J., Fan, H. C., Behr, B., & Quake, S. R. (2012). Genome-wide single-cell analysis of recombination activity and de novo mutation rates in human sperm. Cell, 150(2), 402–412. doi:10.1016/j.cell.2012.06.030

Review Papers

Kalisky, T., Blainey, P., & Quake, S. R. (2011). Genomic analysis at the single-cell level. Annual Review of Genetics, 45, 431–445. doi:10.1146/annurev-genet-102209-163607

Melin, J., & Quake, S. R. (2007). Microfluidic large-scale integration: the evolution of design rules for biological automation. Annual Review of Biophysics and Biomolecular Structure, 36, 213–231. doi:10.1146/annurev.biophys.36.040306.132646

Recommended Readings: Beatrice H. Hahn, M.D.

Friday Lecture Series

Maclyn McCarty Memorial Lecture

Great Ape Reservoirs of Human AIDS and Malaria

Beatrice H. Hahn, M.D., professor, departments of medicine and microbiology,

University of Pennsylvania

 January 25, 2012

3:45 p.m.-5:00 p.m. (Refreshments, 3:15 p.m., Abby Lounge)

Caspary Auditorium

Recommended Readings

Keele, B. F., J. H. Jones, K. A. Terio, J. D. Estes, R. S. Rudicell, M. L. Wilson, Y. Li, et al. 2009. “Increased Mortality and AIDS-Like Immunopathology in Wild Chimpanzees Infected with SIVcpz.” Nature 460 (7254): 515-519

Lee, H. Y., E. E. Giorgi, B. F. Keele, B. Gaschen, G. S. Athreya, J. F. Salazar-Gonzalez, K. T. Pham, et al. 2009. “Modeling Sequence Evolution in Acute HIV-1 Infection.” Journal of Theoretical Biology 261 (2): 341-360

Liu, J., B. F. Keele, H. Li, S. Keating, P. J. Norris, A. Carville, K. G. Mansfield, et al. 2010. “Low-Dose Mucosal Simian Immunodeficiency Virus Infection Restricts Early Replication Kinetics and Transmitted Virus Variants in Rhesus Monkeys.” Journal of Virology 84 (19): 10406-10412

Liu, W., Y. Li, G. H. Learn, R. S. Rudicell, J. D. Robertson, B. F. Keele, J. -B N. Ndjango, et al. 2010. “Origin of the Human Malaria Parasite Plasmodium Falciparum in Gorillas.” Nature 467 (7314): 420-425

Rayner, J. C., W. Liu, M. Peeters, P. M. Sharp, and B. H. Hahn. 2011. “A Plethora of Plasmodium Species in Wild Apes: A Source of Human Infection?” Trends in Parasitology 27 (5): 222-229

Sharp, P. M. and B. H. Hahn. 2010. “The Evolution of HIV-1 and the Origin of AIDS.” Philosophical Transactions of the Royal Society B: Biological Sciences 365 (1552): 2487-2494


White House Bioethics Committee Addressing Genomic Data

NEW YORK (GenomeWeb News) – The Presidential Commission for the Study of Bioethical Issues has begun looking into the ethical concerns brought about by whole genome sequencing, and in particular wants to know what policies may best enable researchers to use genomic data while protecting individual privacy.   more…..