Human Genetics Journal Club
2012 - 2013
Fall 2012: Wednesdays, 4:00pm - 4:30pm, CCSR 4105
Winter 2013: Wednesdays, 4:00pm - 4:30pm, LKSC 120
Spring 2013: Wednesdays, 4:00pm - 4:30pm, Alway M114
Date: September 26, 2012
Speaker: Hank Greely, JD
Title: On De-Extinction: Should Genetics Be Used To Revive Extinct Species?
References:
For an overview of some of the thinking and activities, see the website for Revive and Restore: http://rare.longnow.org .
For the only article I know that goes into any of the legal and ethical issues (though I don't think its technical solution is likely), see this piece from 2000: Corey A. Salsberg, Resurrecting the Woolly Mammoth: Science, Law, Ethics, and Religion, 2000 Stan. Tech. L. Rev. 1. (http://stlr.stanford.edu/2000/03/resurrecting-the-woolly-mammoth/ )
Date: October 3, 2012
Speaker: Lee Kozar
Title: Decoding the ENCODE Database
References:
An integrated encyclopedia of DNA elements in the human genome. The ENCODE Project Consortium. Nature, 489, 57–74(06 September 2012). (http://www.nature.com/nature/journal/v489/n7414/full/nature11247.html )
Date: October 10, 2012
Speaker: Michael Niaki, MD
Title: Copy Number of DUF1220 Predicts Brain Size: What is your copy number?
References:
Laura J. Dumas, Majesta S. O’Bleness, Jonathan M. Davis, C. Michael Dickens, Nathan Anderson, J.G. Keeney, Jay Jackson, Megan Sikela, Armin Raznahan, Jay Giedd, Judith Rapoport, Sandesh S.C. Nagamani, Ayelet Erez, Nicola Brunetti-Pierri, Rachel Sugalski, James R. Lupski, Tasha Fingerlin, Sau Wai Cheung, James M. Sikela, DUF1220-Domain Copy Number Implicated in Human Brain-Size Pathology and Evolution, The American Journal of Human Genetics, Volume 91, Issue 3, 7 September 2012, Pages 444-454.
(http://www.sciencedirect.com/science/article/pii/S0002929712003734)
Date: October 17, 2012
Speaker: Hinco Gierman, PhD
Title: Clinical applications of Exome and Whole Genome Sequencing
References:
Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units.
Saunders CJ, Miller NA, Soden SE, Dinwiddie DL, Noll A, Alnadi NA, Andraws N, Patterson ML, Krivohlavek LA, Fellis J, Humphray S, Saffrey P, Kingsbury Z, Weir JC, Betley J, Grocock RJ, Margulies EH, Farrow EG, Artman M, Safina NP, Petrikin JE, Hall KP, Kingsmore SF.
Sci Transl Med. 2012 Oct 3;4(154):154ra135. doi: 10.1126/scitranslmed.3004041
Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability.
de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, Vulto-van Silfhout AT, Koolen DA, de Vries P, Gilissen C, Del Rosario M, Hoischen A, Scheffer H, de Vries BB, Brunner HG, Veltman JA, Vissers LE.
N Engl J Med. 2012 Oct 3
Date: October 31, 2012
Speaker: Marie-Luise Brennan, MD, Phd
Title: Colon Cancer: PIK3CA mutation, aspirin therapy and survival
References:
Aspirin Use, Tumor PIK3CA Mutation, and Colorectal-Cancer Survival. N Engl J Med. 2012 Oct 25;367(17):1596-606.
http://www.nejm.org/doi/full/10.1056/NEJMoa1207756
Date: November 14, 2012
Speaker: Kristen Dilzell, BS
Title: Common Breast Cancer Risk Variants: Are they useful in clinical practice and management?
References:
A Role for Common Genomic Variants in the Assessment of Familial Breast Cancer.J Clin Oncol. 2012 Oct 29. [Epub ahead of print]
http://www.ncbi.nlm.nih.gov/pubmed/23109704
Date: November 28, 2012
Speaker: Paldeep Atwal, MB ChB
Title: Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants
References:
Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants
Santhosh Girirajan, M.B., B.S., Ph.D., Jill A. Rosenfeld, M.S., Bradley P. Coe, Ph.D., Sumit Parikh, M.D., Neil Friedman, M.B., Ch.B., Amy Goldstein, M.D., Robyn A. Filipink, M.D., Juliann S. McConnell, M.S., Brad Angle, M.D., Wendy S. Meschino, M.D., Marjan M. Nezarati, M.D., Alexander Asamoah, M.D., Kelly E. Jackson, M.S., Gordon C. Gowans, M.D., Judith A. Martin, M.D., Erin P. Carmany, M.S., David W. Stockton, M.D., Rhonda E. Schnur, M.D., Lynette S. Penney, M.D., Donna M. Martin, M.D., Ph.D., Salmo Raskin, Ph.D., Kathleen Leppig, M.D., Heidi Thiese, M.S., Rosemarie Smith, M.D., Erika Aberg, M.S., Dmitriy M. Niyazov, M.D., Luis F. Escobar, M.D., Dima El-Khechen, M.S., Kisha D. Johnson, M.S., Robert R. Lebel, M.D., Kiana Siefkas, M.S., Susie Ball, M.S., Natasha Shur, M.D., Marianne McGuire, M.S., Campbell K. Brasington, M.S., J. Edward Spence, M.D., Laura S. Martin, M.D., Carol Clericuzio, M.D., Blake C. Ballif, Ph.D., Lisa G. Shaffer, Ph.D., and Evan E. Eichler, Ph.D.
N Engl J Med 2012; 367:1321-1331October 4, 2012DOI: 10.1056/NEJMoa1200395
http://www.ncbi.nlm.nih.gov/pubmed/22970919
Date: December 5, 2012
Speaker: Adrienne Miller, BA
Title: Examining the impact of ICE in human development
References:
Alfarawati S, Fragouli E, Colls P, Wells D (2012). Embryos of Robertsonian Translocation Carriers Exhibit a Mitotic Interchromosomal Effect That Enhances Genetic Instability during Early Development. PLoS Genet 8(10): e1003025. doi:10.1371/journal.pgen.1003025
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3486902/
Date: January 9, 2013
Speaker: Hui Wang, PhD
Title: Predict DNA from RNA: a New Data Security Issue?
References:
Nat Genet. 2012 May; 44(5):603-8. doi: 10.1038/ng.2248.
Bayesian method to predict individual SNP genotypes from gene expression data.
http://sfx.stanford.edu/local?sid=stanford:laneweb-search-pubmed&id=pmid:22484626
Date: January 16, 2013
Speaker: Greg Enns, M.B.Ch.B, FACMG
Title: Brain mitochondrial glutathione transport – a link to neurodegeneration
References:
J Biol Chem. 2013 Jan 2. [Epub ahead of print]
Mitochondrial Glutathione Transport is a Key Determinant of Neuronal Susceptibility to Oxidative and Nitrosative Stress.
Wilkins HM, Kirchhof D, Manning E, Joseph JW, Linseman DA.
http://www.ncbi.nlm.nih.gov/pubmed/23283974
Date: January 23, 2013
Speaker: Emily Hendricks, BA
Title: Targeted massively parallel sequencing provides comprehensive genetic diagnosis for patients with disorders of sex development
References:
Targeted massively parallel sequencing provides comprehensive genetic diagnosis for patients with disorders of sex development.
Arboleda V, Lee H, Sánchez F, Délot E, Sandberg D, Grody W, Nelson S, Vilain E.
Clin Genet. 2013 Jan;83(1) - PubMed PMID: 22435390
http://sfx.stanford.edu/local?sid=stanford:laneweb-search-pubmed&id=pmid:22435390
Date: January 30, 2013
Speaker: Justin Odegaard, MD, PhD
Title: Rate of de novo mutations and the importance of father’s age to disease risk
References:
Rate of de novo mutations and the importance of father's age to disease risk.
Kong A, Frigge ML, Masson G, Besenbacher S, Sulem P, Magnusson G, Gudjonsson SA, Sigurdsson A, Jonasdottir A, Jonasdottir A, Wong WS, Sigurdsson G, Walters GB, Steinberg S, Helgason H, Thorleifsson G, Gudbjartsson DF, Helgason A, Magnusson OT, Thorsteinsdottir U, Stefansson K.
Nature. 2012 Aug 23;488(7412) - PubMed PMID: 22914163
http://sfx.stanford.edu/local?sid=stanford:laneweb-search-pubmed&id=pmid:22914163
Date: February 6, 2013
Speaker: Rachel Farrell, BA
Title: Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan
References:
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan.
Roscioli T, Kamsteeg EJ, Buysse K, Maystadt I, van Reeuwijk J, van den Elzen C, van Beusekom E, Riemersma M, Pfundt R, Vissers LE, Schraders M, Altunoglu U, Buckley MF, Brunner HG, Grisart B, Zhou H, Veltman JA, Gilissen C, Mancini GM, Delrée P, Willemsen MA, Ramadža DP, Chitayat D, Bennett C, Sheridan E, Peeters EA, Tan-Sindhunata GM, de Die-Smulders CE, Devriendt K, Kayserili H, El-Hashash OA, Stemple DL, Lefeber DJ, Lin YY, van Bokhoven H.
Nat Genet. 2012 May;44(5) - PubMed PMID: 22522421
http://sfx.stanford.edu/local?sid=stanford:laneweb-search-pubmed&id=pmid:22522421
Date: February 13, 2013
Speaker: Amirah Khouzam, MA
Title: TREM2 Variants in Alzheimer's Disease
References:
TREM2 Variants in Alzheimer's Disease
Rita Guerreiro, Ph.D., Aleksandra Wojtas, M.S., Jose Bras, Ph.D., Minerva Carrasquillo, Ph.D., Ekaterina Rogaeva, Ph.D., Elisa Majounie, Ph.D., Carlos Cruchaga, Ph.D., Celeste Sassi, M.D., John S.K. Kauwe, Ph.D., Steven Younkin, M.D., Ph.D., Lilinaz Hazrati, M.D., Ph.D., John Collinge, M.D., Jennifer Pocock, Ph.D., Tammaryn Lashley, Ph.D., Julie Williams, Ph.D., Jean-Charles Lambert, Ph.D., Philippe Amouyel, M.D., Ph.D., Alison Goate, Ph.D., Rosa Rademakers, Ph.D., Kevin Morgan, Ph.D., John Powell, Ph.D., Peter St. George-Hyslop, M.D., Andrew Singleton, Ph.D., and John Hardy, Ph.D. for the Alzheimer Genetic Analysis Group
N Engl J Med 2013; 368:117-127January 10, 2013DOI: 10.1056/NEJMoa1211851
http://sfx.stanford.edu/local?sid=stanford:laneweb-search-pubmed&id=pmid:23150934
Date: February 20, 2013
Speaker: Kelly E. Ormond, MS, CGC, LGC
Title: An informatics approach to analyzing the incidentalome
References:
Jonathan S. Berg MD, PhD, Michael Adams MS, Nassib Nassar PhD, Chris Bizon PhD, Kristy Lee MS, Charles P. Schmitt PhD, Kirk C. Wilhelmsen MD, PhD & James P. Evans MD, PhD
Genetics in Medicine (2013) 15, 36–44 doi:10.1038/gim.2012.112
Received 17 July 2012 Accepted 27 July 2012 Published online 20 September 2012
http://sfx.stanford.edu/local?sid=stanford:laneweb-search-pubmed&id=pmid:22995991
Date: February 27, 2013
Speaker: Sahil Kejriwal, BS
Title: The Cardiomyopathy Variant Conundrum
References:
Andreasen C, Nielsen JB, Refsgaard L, Holst AG, Christensen AH, Andreasen L, Sajadieh A, Haunsø S, Svendsen JH, Olesen MS, (2013). New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants. Eur J Hum Genet. [Epub ahead of print]
http://sfx.stanford.edu/local?sid=stanford:laneweb-search-pubmed&id=pmid:23299917
Date: March 6, 2013
Speaker: Andrea Kwan, MS, LCGC
Title: Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans
References:
de Pontual L, Yao E, Callier P, Faivre L, Drouin V, Cariou S, Van Haeringen A, Geneviève D, Goldenberg A, Oufadem M, Manouvrier S, Munnich A, Vidigal JA, Vekemans M, Lyonnet S, Henrion-Caude A, Ventura A, Amiel J.
Nat Genet. 2011 Sep 4;43(10):1026-30. doi: 10.1038/ng.915.
http://www.ncbi.nlm.nih.gov/pubmed/21892160
Date: March 13, 2013
Speaker: Kitch Wilson, MD, PhD
Title: A technical reason why next generation sequencing may not be the answer to everything
References:
Kirby A, Gnirke A, Jaffe DB, Barešová V, Pochet N, Blumenstiel B, Ye C, Aird D, Stevens C, Robinson JT, Cabili MN, Gat-Viks I, Kelliher E, Daza R, Defelice M, Hůlková H, Sovová J, Vylet'al P, Antignac C, Guttman M, Handsaker RE, Perrin D, Steelman S, Sigurdsson S, Scheinman SJ, Sougnez C, Cibulskis K, Parkin M, Green T, Rossin E, Zody MC, Xavier RJ, Pollak MR, Alper SL, Lindblad-Toh K, Gabriel S, Hart PS, Regev A, Nusbaum C, Kmoch S, Bleyer AJ, Lander ES, Daly MJ.
Nat Genet. 2013 Mar;45(3) - PubMed PMID: 23396133
http://sfx.stanford.edu/local?sid=stanford:laneweb-search-pubmed&id=pmid:23396133
Date: April 3, 2013
Speaker: Louanne Hudgins, MD, FACMG
Title: aCGH in Prenatal Diagnosis: What do we gain?
References:
Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis
Ronald J. Wapner, M.D., Christa Lese Martin, Ph.D., Brynn Levy, M.Sc.(Med.), Ph.D., Blake C. Ballif, Ph.D., Christine M. Eng, M.D., Julia M. Zachary, Melissa Savage, M.S., Lawrence D. Platt, M.D., Daniel Saltzman, M.D., William A. Grobman, M.D., M.B.A., Susan Klugman, M.D., Thomas Scholl, Ph.D., Joe Leigh Simpson, M.D., Kimberly McCall, B.S., Vimla S. Aggarwal, M.B., B.S., Brian Bunke, B.S., Odelia Nahum, M.Sc., Ankita Patel, Ph.D., Allen N. Lamb, Ph.D., Elizabeth A. Thom, Ph.D., Arthur L. Beaudet, M.D., David H. Ledbetter, Ph.D., Lisa G. Shaffer, Ph.D., and Laird Jackson, M.D.
N Engl J Med 2012; 367:2175-2184December 6, 2012DOI: 10.1056/NEJMoa1203382
http://sfx.stanford.edu/local?sid=stanford:laneweb-search-pubmed&id=pmid:23215555
Date: April 10, 2013
Speaker: Gregory Kellogg, BS
Title: Hemizygous mutations on undeleted chromosome: A cause of variability in 22q11.2 deletion syndrome
References:
Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS. McDonald-McGinn DM, Fahiminiya S,Revil Tée, et al. J Med Genet 2013;50:80–90.
http://jmg.bmj.com/content/50/2/80
Date: April 17, 2013
Speaker: Yael Wilnai, MD
Title: Intestinal microbiota metabolism of L-carnitine, a nutrient in red meat, promotes atherosclerosis
References:
Intestinal microbiota metabolism of l-carnitine, a nutrient in red meat, promotes atherosclerosis.
Koeth RA, Wang Z, Levison BS, Buffa JA, Org E, Sheehy BT, Britt EB, Fu X, Wu Y, Li L, Smith JD, Didonato JA, Chen J, Li H, Wu GD, Lewis JD, Warrier M, Brown JM, Krauss RM, Tang WH, Bushman FD, Lusis AJ, Hazen SL.
Nat Med. 2013 Apr 7 - PubMed PMID: 23563705
http://sfx.stanford.edu/local?sid=stanford:laneweb-search-pubmed&id=pmid:23563705
Date: April 24, 2013
Speaker: Curt Scharfe, MD
Title: The search for genetic causes of rare disorders of copper metabolism
References:
Metallomics. 2012 Jul;4(7):606-13. doi: 10.1039/c2mt20034a. Epub 2012 May 4.
Application of exome sequencing in the search for genetic causes of rare disorders of copper metabolism.
Fuchs SA, Harakalova M, van Haaften G, van Hasselt PM, Cuppen E, Houwen RH.
Department of Metabolic Diseases, University Medical Center Utrecht, 3508 AB Utrecht, The Netherlands.
http://www.ncbi.nlm.nih.gov/pubmed/?term=22555275
Date: May 1, 2013
Speaker: Julien Couthouis, PhD
Title: Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy
References:
Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy.
Sarparanta J, Jonson PH, Golzio C, Sandell S, Luque H, Screen M, McDonald K, Stajich JM, Mahjneh I, Vihola A, Raheem O, Penttilä S, Lehtinen S, Huovinen S, Palmio J, Tasca G, Ricci E, Hackman P, Hauser M, Katsanis N, Udd B.
Nat Genet. 2012 Apr;44(4):450-5, S1-2. - PubMed PMID: 22366786
http://sfx.stanford.edu/local?sid=stanford:laneweb-search-pubmed&id=pmid:22366786
Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy.
Harms MB, Sommerville RB, Allred P, Bell S, Ma D, Cooper P, Lopate G, Pestronk A, Weihl CC, Baloh RH.
Ann Neurol. 2012 Mar;71(3):407-16. - PubMed PMID: 22334415
http://sfx.stanford.edu/local?sid=stanford:laneweb-search-pubmed&id=pmid:22334415
DNAJB6 myopathy in an Asian cohort and cytoplasmic/nuclear inclusions.
Sato T, Hayashi YK, Oya Y, Kondo T, Sugie K, Kaneda D, Houzen H, Yabe I, Sasaki H, Noguchi S, Nonaka I, Osawa M, Nishino I.
Neuromuscul Disord. 2013 Mar;23(3):269-76. - PubMed PMID: 23394708
Date: May 8, 2013
Speaker: Edward Esplin, MD, PhD
Title: To benign, or not to benign: answering the question...
References:
Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants.
Houdayer C, Caux-Moncoutier V, Krieger S, Barrois M, Bonnet F, Bourdon V, Bronner M, Buisson M, Coulet F, Gaildrat P, Lefol C, Léone M, Mazoyer S, Muller D, Remenieras A, Révillion F, Rouleau E, Sokolowska J, Vert JP, Lidereau R, Soubrier F, Sobol H, Sevenet N, Bressac-de Paillerets B, Hardouin A, Tosi M, Sinilnikova OM, Stoppa-Lyonnet D.
Hum Mutat. 2012 Aug;33(8):1228-38. - PubMed PMID: 22505045
http://sfx.stanford.edu/local?sid=stanford:laneweb-search-pubmed&id=pmid:22505045
Date: May 15, 2013
Speaker: Joachim Hallmayer, MD
Title: Neurexin, self chains, and neurodevelopmental disorders
References:
Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVs.
Chen X, Shen Y, Zhang F, Chiang C, Pillalamarri V, Blumenthal I, Talkowski M, Wu BL, Gusella JF.
Am J Hum Genet. 2013 Mar 7;92(3):375-86. - PubMed PMID: 23472757
http://sfx.stanford.edu/local?sid=stanford:laneweb-search-pubmed&id=pmid:23472757
Increased genome instability in human DNA segments with self-chains: homology-induced structural variations via replicative mechanisms.
Zhou W, Zhang F, Chen X, Shen Y, Lupski JR, Jin L.
Hum Mol Genet. 2013 Mar 15 - PubMed PMID: 23474816
http://hmg.oxfordjournals.org/content/early/2013/03/15/hmg.ddt113.long
Date: May 22, 2013
Speaker: Jon Bernstein, MD, PhD
Title: Somatic genetic events explain the distribution of cutaneous findings in Sturge-Weber Syndrome and Familial Glomovenous Malformations
References:
Date: May 29. 2013
Speaker: Iris Schrijver, MD
Title:
References:
Date: June 5, 2013
Speaker: Melanie Manning, MD
Title:
References:
2011 - 2012
Date: October 4, 2011
Speaker: Dr. Carlos Bustamante
Title: Bayesian inference of ancient human demography from individual genome sequences
References: http://www.nature.com/ng/journal/vaop/ncurrent/full/ng.937.html
Nat Genet. 2011 Sep 18. doi: 10.1038/ng.937. [Epub ahead of print]
Bayesian inference of ancient human demography from individual genome sequences.
Gronau I, Hubisz MJ, Gulko B, Danko CG, Siepel A.
Source: Department of Biological Statistics and Computational Biology, Cornell University, Ithaca, New York, USA.
Date: October 11, 2011
Speaker: Theresa Boyle
Title : Genetics of Type 1 Diabetes
References: 1: Steck AK, Rewers MJ. Genetics of type 1 diabetes. Clin Chem. 2011 Feb;57(2):176-85. Epub 2011 Jan 4. Review. PubMed PMID: 21205883.
Other references are:
2: Forlenza GP, Rewers M. The epidemic of type 1 diabetes: what is it telling us?
Curr Opin Endocrinol Diabetes Obes. 2011 Aug;18(4):248-51. PubMed PMID: 21844707.
3: Baschal EE, Sarkar SA, Boyle TA, Siebert JC, Jasinski JM, Grabek KR, Armstrong TK, Babu SR, Fain PR, Steck AK, Rewers MJ, Eisenbarth GS. Replication and further characterization of a Type 1 diabetes-associated locus at the telomeric end of the major histocompatibility complex. J Diabetes. 2011 Sep;3(3):238-47. doi:
10.1111/j.1753-0407.2011.00131.x. PubMed PMID: 21631897.
Date: October 18, 2011
Speaker: Hui Wang
Title : GWA study in the Pre-sequencing Era
References:
Holm H, Gudbjartsson DF, et. al. (2011) A rare variant in MYH6 is associated with high risk of sick sinus syndrome. Nat Genet. 43(4):316-20.
http://www.nature.com/ng/journal/v43/n4/full/ng.781.html
Date: October 25, 2011
Speaker: Hank Greely
Title : End of Sex
References:
Hayashi et al., Reconstitution of the Mouse Germ Cell Specification Pathway in Culture by Pluripotent Stem Cells, Cell (2011), doi:10.1016/j.cell.2011.06.052
Date: November 1, 2011
Speaker: Curt Scharfe, MD
Title : Illuminating mitochondrial calcium uptake
References:
http://www.ncbi.nlm.nih.gov/pubmed/20693986
http://www.ncbi.nlm.nih.gov/pubmed/21685886
Date: November 8, 2011
Speaker: Nadine Rayes
Title: Uniparental disomy detection by SNP microarray analysis
References:
Papenhausen, et al. UPD detection using homozygosity profiling with a SNP genotyping microarray. Am J Med Genet A. 2011
http://www.ncbi.nlm.nih.gov/pubmed/21594998
Conlin, et al. Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis. Hum Mol Genet. 2010 http://www.ncbi.nlm.nih.gov/pubmed/20053666/
Date: November 15, 2011
Speaker: Jessica Profato
Title: RAD51C: Investigations of a Potential Breast and Ovarian Cancer Susceptibility Gene
References:
Vuorela M, Pylkäs K, Hartikainen JM, Sundfeldt K, Lindblom A, von Wachenfeldt Wäppling A, Haanpää M, Puistola U, Rosengren A, Anttila M, Kosma VM, Mannermaa A, Winqvist R. 2011. Further evidence for the contribution of the RAD51C gene in hereditary breast and ovarian cancer susceptibility. Breast Cancer Res Treat. Jul 13. [Epub ahead of print]
Pelttari LM, Heikkinen T, Thompson D, Kallioniemi A, Schleutker J, Holli K, Blomqvist C, Aittomäki K, Bützow R, Nevanlinna H. 2011. RAD51C is a susceptibility gene for ovarian cancer. Hum Mol Genet. Aug 15;20(16):3278-88. Epub 2011 May 25.
Date: November 29, 2011
Speaker: Anna-Kaisa Niemi, MD
Title: CMAMMA solved. What's next - CPAPPA?
Sloan et al. 2011. Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria (CMAMMA). Nat Genet. 2011 43:883-6. PMID: 21841779.
Date: December 6, 2011
Speaker: Edward Esplin, MD, PhD
Title: APC: Texas Two-Step vs the Two Hit hypothesis
Date: December 13, 2011
Speaker: Yael Wilnai, MD
Title: Clinical significance of copy number variants in intellectual and developmental disabilities
References:
An evidence-based apprach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. Genet Med 2011:13(9):777-784
http://sfx.stanford.edu/local?sid=Entrez:PubMed&id=pmid:21844811
A copy number variation morbidity map of developmental delay. Nature Genetics 2011:43(9): 838-848
http://sfx.stanford.edu/local?sid=Entrez:PubMed&id=pmid:21841781
Date: January 10, 2012
Speaker: Greg Enns, MB ChB
Title: Exercise and eat dark chocolate – the Willy Wonka approach to improving mitochondrial function.
References:
1) J Physiol. 2011 Sep 15;589(Pt 18):4615-31. doi: 10.1113/jphysiol.2011.209924. Epub 2011 Jul 25.
(-)-Epicatechin enhances fatigue resistance and oxidative capacity in mouse muscle.
Nogueira L, Ramirez-Sanchez I, Perkins GA, Murphy A, Taub PR, Ceballos G, Villarreal FJ, Hogan MC, Malek MH.
2) Antioxid Redox Signal. 2011 Nov 15;15(10):2779-811. doi: 10.1089/ars.2010.3697. Epub 2011 Jun 13.
Cocoa and chocolate in human health and disease.
Date: January 17, 2012
Speaker: Hannes Vogel, MD
Title: Run, don’t walk to this HGJC!
References:
http://www.nature.com/nature/journal/vaop/ncurrent/pdf/nature10777.pdf
Date: January 24, 2012
Speaker: Louanne Hudgins, MD
Title: Are the autoimmune disease susceptibility disorders (AIS) distinct entities?
References:
Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.
Jin Y, Birlea SA, Fain PR, Gowan K, Riccardi SL, Holland PJ, Mailloux CM, Sufit AJ, Hutton SM, Amadi-Myers A, Bennett DC, Wallace MR, McCormack WT, Kemp EH, Gawkrodger DJ, Weetman AP, Picardo M, Leone G, Taïeb A, Jouary T, Ezzedine K, van Geel N, Lambert J, Overbeck A, Spritz RA.
N Engl J Med. 2010 May 6;362(18):1686-97.
NALP1 in vitiligo-associated multiple autoimmune disease.
Jin Y, Mailloux CM, Gowan K, Riccardi SL, LaBerge G, Bennett DC, Fain PR, Spritz RA.
N Engl J Med. 2007 Mar 22;356(12):1216-25.
Date: January 31, 2012
Speaker: Angela Arredondo
Title: Breathing new life into PHOX2B and it's role in congenital central hypoventilation syndrome
References:
http://www.nature.com/nature/journal/vaop/ncurrent/pdf/nature10777.pdf
Date: February 7, 2012
Speaker: Angela Myers, MD
Title: RASopathies: do they share perinatal features?
References:
Baldassarre, G. et al. Prenatal features of Noonan syndrome: prevalence and
prognostic value. Prenatal Diagnosis 31, 949-954 (2011)
Bakker, M., Pajkrt, E., Mathijssen, I.B. & Bilardo, C.M. Targeted
ultrasound examination and DNA testing for Noonan syndrome, in fetuses with
increased nuchal translucency and normal karyotype. Prenatal Diagnosis 31,
833-840 (2011)
Digilio, M.C. et al. RASopathies: Clinical Diagnosis in the First Year of
Life. Molecular Syndromology 1, 282-289 (2010)
Date: , February 14, 2012
Speaker: Jim Ford, MD
Title: DICER1 Mutations Cancer: Tumor Suppressor Gene or Oncogene?
Date: February 21, 2012
Speaker: Emily Hurford
Title: TRPV4 and associated phenotypes: Charcot-Marie-Tooth, arthropathy, and skeletal dysplasias
References:
C.J. Klein, Y. Shi, F. Fecto, et al. (2011). TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies. Neurology, 76, 887-894.
Lamande, S.R., Yuan, Y, Irma, L.G., et al. (2011). Mutations in TRPV4 cause an inherited arthropathy of hands and feet. Nature Genetics, 43(11), 1142-1146.
Andreucci, E., Aftimos, S., Alcausin, M., et al. (2011). TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted by clinical, radiographic, and molecular studies in 21 new families. Orphanet Journal of Rare Diseases; 6(37).
Date: February 28, 2012
Speaker: Joachim Hallmayer, MD
Title: The Emperor’s New Clothes – IQ and GWAS
References:
Deary IJ, Yang J, Davies G, Harris SE, Tenesa A, Liewald D, Luciano M, Lopez LM, Gow AJ, Corley J, Redmond P, Fox HC, Rowe SJ, Haggarty P, McNeill G, Goddard ME, Porteous DJ, Whalley LJ, Starr JM, Visscher PM. Genetic contributions to stability and change in intelligence from childhood to old age Nature. 2012 Jan 18;482(7384):212-5
Davies G, Tenesa A, Payton A, Yang J, Harris SE, Liewald D, Ke X, Le Hellard S, Christoforou A, Luciano M, McGhee K, Lopez L, Gow AJ, Corley J, Redmond P, Fox HC, Haggarty P, Whalley LJ, McNeill G, Goddard ME, Espeseth T, Lundervold AJ, Reinvang I, Pickles A, Steen VM, Ollier W, Porteous DJ, Horan M, Starr JM, Pendleton N, Visscher PM, Deary IJ. Genome-wide association studies establish that human intelligence is highly heritable and polygenic. Mol Psychiatry. 2011 Oct;16(10):996-1005.
Date: March 6, 2012
Speaker: Megan Grove
Title: The Heart of the Matter: Myopalladin Mutations and Clinical Heterogeneity in Inherited Cardiomyopathies
References:
Purevjav E, Arimura T, Augustin S, Huby AC, Takagi K, Nunoda S, Kearney DL, Taylor MD, Terasaki F, Bos JM, Ommen SR, Shibata H, Takahashi M, Itoh-Satoh M, McKenna WJ, Murphy RT, Labeit S, Yamanaka Y, Machida N, Park JE, Alexander PM, Weintraub RG, Kitaura Y, Ackerman MJ, Kimura A, Towbin JA. Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations. Hum Mol Genet. 2012 Feb 14. [Epub ahead of print]
Duboscq-Bidot L, Xu P, Charron P, Neyroud N, Dilanian G, Millaire A, Bors V, Komajda M, Villard E. Mutations in the Z-band protein myopalladin gene and idiopathic dilated cardiomyopathy.Cardiovasc Res. 2008 Jan;77(1):118-2
Date: March 13, 2012
Speaker: Hua Tang, PHD
Title: Confounding due to population stratification: common vs rare variants
References:
http://www.nature.com/ng/journal/v44/n3/abs/ng.1074.html
Date: March 20, 2012
Speaker: Aarin Ables
Title: Systemic Lupus Erythematosus Susceptibility: Identification by GWAS
References:
Lessard CJ, Adrianto I, Kelly JA et al. Identification of a systemic lupus erythematosus susceptibility locus at 11p13 between PDHX and CD44 in a multiethnic study. Am J Hum Genet 2011;88:83–91.
Graham RR, Cotsapas C, Davies L et al. Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus. Nat Genet 2008;40:1059-61.
Jarvinen TM, Hellquist A, Zucchelli1 M et al. Replication of GWAS-identified systemic lupus erythematosus susceptibility genes affirms B-cell receptor pathway signalling and strengthens the role of IRF5 in disease susceptibility in a Northern European population. Rheumatology 2012;51:87-92
Date: April 3, 2012
Speaker: Bita Nehoray
Title: Kalydeco: A Cure for Cystic Fibrosis?
References:
Ivacaftor in Subjects with Cystic Fibrosis who are Homozygous for the F508del-CFTR Mutation.
Flume PA, Liou TG, Borowitz DS, Li H, Yen K, Ordoñez CL, Geller DE; for the VX08-770-104 Study Group.
A CFTR potentiator in patients with cystic fibrosis and the G551D mutation.
Ramsey BW, Davies J, McElvaney NG, Tullis E, Bell SC, Dřevínek P, Griese M, McKone EF, Wainwright CE, Konstan MW, Moss R, Ratjen F, Sermet-Gaudelus I, Rowe SM, Dong Q, Rodriguez S, Yen K, Ordoñez C, Elborn JS; VX08-770-102 Study Group.
Date: April 10, 2012
Speaker: Hinco Gierman, PhD
Title: How mutations make us sick: Loss-of-function variants in the human genome & the implications for personalized medicine
References:
http://www.sciencemag.org/content/335/6070/823.full
A systematic survey of loss-of-function variants in human protein-coding genes.
MacArthur DG, Balasubramanian S, Frankish A, Huang N, Morris J, Walter K, Jostins L, Habegger L, Pickrell JK, Montgomery SB, Albers CA, Zhang ZD, Conrad DF, Lunter G, Zheng H, Ayub Q, DePristo MA, Banks E, Hu M, Handsaker RE, Rosenfeld JA, Fromer M, Jin M, Mu XJ, Khurana E, Ye K, Kay M, Saunders GI, Suner MM, Hunt T, Barnes IH, Amid C, Carvalho-Silva DR, Bignell AH, Snow C, Yngvadottir B, Bumpstead S, Cooper DN, Xue Y, Romero IG; 1000 Genomes Project Consortium, Wang J, Li Y, Gibbs RA, McCarroll SA, Dermitzakis ET, Pritchard JK, Barrett JC, Harrow J, Hurles ME, Gerstein MB, Tyler-Smith C.
Science. 2012 Feb 17;335(6070):823-8.
Date: April 17, 2012
Speaker: Layla Shahmirzadi
Title: Non-Invasive Prenatal Diagnosis: A comparison of validations studies
References:
Palomaki GE et al. (2011) DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study. Genetics in Medicine, 13(11): 913-920.
http://www.nature.com/gim/journal/v13/n11/full/gim2011155a.html
Palomaki GE et al. (2012) DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study. Genetics in Medicine, 14:296-305.
http://www.nature.com/gim/journal/v14/n3/full/gim201173a.html
Bianchi DW et al. (2012) Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstetrics & Gynecology, 119(5) 1-12.
Date: April 24, 2012
Speaker: Tina Cowan, MD
Title: Nitric oxide and the pathophysiology of mitochondrial disease
Date: May 1, 2012
Speaker: Marie-Luise Brennan, MD, PhD
Title: Angelman syndrome: genotype-phenotype studies on more than just deletions
References:
Reference: Tan WH, et al., Angelman syndrome: Mutations influence features in early childhood. Am J Med Genet A. 2011 Jan;155A(1):81-90. doi: 10.1002/ajmg.a.33775. PubMed PMID: 21204213.
http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.33775/abstract;jsessionid=EC23857A1A4C5159C691AF7B959E4AEC.d01t04
Date: May 8, 2012
Speaker: Jon Bernstein, MD, PhD
Title: Not what we expected to see in the mirror: RAD51 implicated in congenital mirror movements: RAD51 haploinsufficiency causes congenital mirror movements in humans
References:
Am J Hum Genet. 2012 Feb 10;90(2):301-7. Epub 2012 Feb 2.
Depienne C, Bouteiller D, Méneret A, Billot S, Groppa S, Klebe S, Charbonnier-Beaupel F, Corvol JC, Saraiva JP, Brueggemann N, Bhatia K, Cincotta M, Brochard V, Flamand-Roze C, Carpentier W, Meunier S, Marie Y, Gaussen M, Stevanin G, Wehrle R, Vidailhet M, Klein C, Dusart I, Brice A, Roze E.
Date: May 22, 2012
Speaker: Andrea Kwan, MS, CGC
Title: GPS-guided understanding of KAT6B -associated phenotypes
References:
Am J Hum Genet. 2012 Feb 10;90(2):282-9. Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome. Campeau PM, Kim JC, Lu JT, Schwartzentruber JA, Abdul-Rahman OA, Schlaubitz S, Murdock DM, Jiang MM, Lammer EJ, Enns GM, Rhead WJ, Rowland J, Robertson SP, Cormier-Daire V, Bainbridge MN, Yang XJ, Gingras MC, Gibbs RA, Rosenblatt DS, Majewski J, Lee BH.
Am J Hum Genet. 2012 Feb 10;90(2):290-4.. De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome. Simpson MA, Deshpande C, Dafou D, Vissers LE, Woollard WJ, Holder SE, Gillessen-Kaesbach G, Derks R, White SM, Cohen-Snuijf R, Kant SG, Hoefsloot LH, Reardon W, Brunner HG, Bongers EM, Trembath RC.
Date: June 5, 2012
Speaker: Melanie Manning, MD, FACMG, FAAP
Title: Whole genome sequencing for everyone - are we ready?
References:
American Journal of Medical Genetics A 158A:1310-1319; Tabor et al.; "Informed consent for whole genome sequencing: a qualitative analysis of participant expectations and perceptions of risks, benefits and harms." http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.35328/abstract
American Journal of Medical Genetics A 158A: AJMG Sequence: "At $1,000, is genomic sequencing clinically useful in newborns?"
http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.35460/abstract
JAMA 307:461-462; Goldenberg and Sharp; "The ethical hazards and programmatic challenges of genomic newborn screening" http://jama.jamanetwork.com/article.aspx?page=461&volume=307
2010 - 2011
Date: September 21, 2010
Speaker: Dr. Carlos Bustamante
Title: The Characterization of Twenty Sequenced Human Genomes
Reference: The Characterization of Twenty Sequenced Human Genomes.
Pelak K, Shianna KV, GE D, Maja JM, Zhu M. et al
PLos Genet 6 (9):e1001111. Doi.10.1371/journal.pgen.
http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1001111
Date: September 28, 2010
Speaker: Dr. Curt Scharfe
Title: The Challenges of Sequencing by Synthesis
Reference:
The challenges of sequencing by synthesis. Fuller et al.Nature Biotechnology.2009
http://www.ncbi.nlm.nih.gov/pubmed/19898456
Date: October 5, 2010
Speaker: Dr. Olivera Mitrasinovic
Title: “When Informed Consent on Stored Biospecimens fails”
Panel discussion includes Law Professor Hank Greely and Dr. Uta Francke, former ASHG president
Reference:
The Havasupai Indian Tribe Case – lessons for research involving stored biologic samples.
Mello mm, Wolf LE. N Engl. J. Med 2010 Jul; 363 (3):204-7. PMID 20538622
http://www.nejm.org/doi/pdf/10.1056/NEJMp1005203
Date: October 12, 2010
Speaker: Gemma Chandratillake, MS in Human Genetics and Genetic Counseling Program
Title: Kabuki Syndrome & MLL2
Reference:
Nat Genet. 2010 Sep;42(9):790-3. Epub 2010 Aug 15.
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.
http://sfx.stanford.edu/local?sid=Entrez:PubMed&id=pmid:20711175
Date: October 19, 2010
Speaker: Dr. Hannes Vogel
Title: Autism and Neuropathology
References:
The neuropathology of autism: defects of neurogenesis
and neuronal migration, and dysplastic changes
Jerzy Wegiel • Izabela Kuchna • Krzysztof Nowicki • Humi Imaki • Jarek Wegiel • Elaine Marchi •
Shuang Yong Ma • Abha Chauhan • Ved Chauhan • Teresa Wierzba Bobrowicz • Mony de Leon •
Leslie A. Saint Louis • Ira L. Cohen • Eric London • W. Ted Brown • Thomas Wisniewski
http://sfx.stanford.edu/local?sid=Entrez:PubMed&id=pmid:20198484
Mapping Early Brain Development in Autism
Eric Courchesne,1,2,* Karen Pierce,1,2 Cynthia M. Schumann,1,2 Elizabeth Redcay,2,3 Joseph A. Buckwalter,1,2
Daniel P. Kennedy,1 and John Morgan1,2
http://sfx.stanford.edu/local?sid=Entrez:PubMed&id=pmid:17964254
Date: October 26, 2010
Speaker: Dr. Hank Greely
Title: Genotyping as an Educational Tool – Some Thoughts
1. Various documents from Berkeley's DNA Testing program:
Flyer, Letter to students, Info sheets for students (2), Consent form
2. Council for Responsible Genetics Statement to the Assembly Higher Education Committee (Aug. 10, 2010)
3. Troy Duster, Welcome, Freshman. DNA Swabs, Please. Chron. Higher Ed. (May 28, 2010).
Date: November 2, 2010
Speaker: Lili Kuzmich, MS in Human Genetics and Genetic Counseling Program
Title: “HDAC4 One Gene, Many Phenotypes”
Main article
Title: Haploinsufficiency of HDAC4 Causes Brachydactyly Mental Retardation Syndrome, with Brachydactyly Type E, Developmental Delays, and Behavioral Problems
Authors: Stephen R. Williams, Micheala A. Aldred, Vazken M. Der Kaloustian, Fahed Halal, Gordon Gowans, D. Ross McLeod, Sara Zondag, Helga V. Toriello, R. Ellen Magenis,and Sarah H. Elsea
Publication: The American Journal of Human Genetics August 2010, Vol. 87, pg: 219–228.
Supplementary article
Title: Array comparative genomic hybridisation of 52 subjects with a SmitheMagenis-like phenotype: identification of dosage sensitive loci also associated with schizophrenia, autism, and developmental delay
Authors: Stephen R Williams, Santhosh Girirajan, David Tegay, Norma Nowak,Eli Hatchwell, Sarah H Elsea
Publication: Journal of Medical Genetics April 2010,Vol. 47(4) pg:223-9.
Date: November 9, 2010
Speaker: Dr. Iris Schrijver, MD
Title: Safety first: Next-generation prenatal diagnosis
References:
Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma. Rossa W. K. Chiu, K. C. Allen Chan,Yuan Gao,Virginia Y. M. Lau,Wenli Zheng,Tak Y. Leung, Chris H. F. Foo,Bin Xie, Nancy B. Y. Tsui, Fiona M. F. Lun, Benny C. Y. Zee, Tze K. Lau, Charles R. Cantor, and Y. M. Dennis Lo. Proc Natl Acad Sci U S A. 2008 December 23; 105(51): 20458–20463
http://sfx.stanford.edu/local?sid=Entrez:PubMed&id=pmid:19073917
Analysis of the size distributions of fetal and maternal cell-free DNA by paired-end sequencing.Fan HC, Blumenfeld YJ, Chitkara U, Hudgins L, Quake SR. Clin Chem. 2010 Aug;56(8):1279-86.
http://www.clinchem.org/cgi/reprint/56/8/1279
Date: November 16, 2010
Speaker: Kyla Dunn, MS in Human Genetics and Genetic Counseling Program
Title: A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy (FSHD)
References:
Main paper for discussion:
Lemmers, R. J. L. F., van der Vliet, P. J., Klooster, R., Sacconi, S., Camaño, P., Dauwerse, J. G., Snider, L., et al. (2010). A unifying genetic model for facioscapulohumeral muscular dystrophy. Science, 329(5999), 1650-1653. doi:10.1126/science.1189044
Additional paper:
Snider, L., Geng, L. N., Lemmers, R. J. L. F., Kyba, M., Ware, C. B., Nelson, A. M., Tawil, R., et al. (2010). Facioscapulohumeral Dystrophy: Incomplete Suppression of a Retrotransposed Gene. PLoS Genet, 6(10), e1001181. doi:10.1371/journal.pgen.1001181
Date: November 30, 2010
Speaker: Myla Ashfaq, MS in Human Genetics and Genetic Counseling Program
Title: WDR62 Mutations in Microcephaly and other Brain Malformations
References:
Main paper for discussion:
Bilgüvar, K., Oztürk, A. K., Louvi, A., Kwan, K. Y., Choi, M., et al. (2010). Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. Nature, 467(7312), 207-10. doi:10.1038/nature09327
Additional paper:
Yu, T. W., Mochida, G. H., Tischfield, D. J., Sgaier, S. K., Flores-Sarnat, L. et al. (2010). Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture. Nature Genetics 42(11), 1015–1020. doi:10.1038/ng.
Date: December 7, 2010
Speaker: Eric Muller II, MD, PhD
Title: Genotype–phenotype correlation of two prevalent GJB2 mutations in chinese newborn infants ascertained from the Universal Newborn Hearing Screening Program
References:
My Y et al. 2010. Genotype–phenotype correlation of two prevalent GJB2 mutations in chinese newborn infants ascertained from the Universal Newborn Hearing Screening Program. Am J Med Genet Part A. 152A:2912-2915.
Tang H-Y, et al. 2006. DNA sequence analysis of GJB2, encoding connexin 26:
Observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls. Am J Med Genet Part A 140A:2401–2415.
Date: , January 4, 2011
Speaker: Gregory Enns, M.B. Ch.B
Title: Mitochondrial sirtuins – novel therapeutic targets for redox-related disorders?
References:
PLoS One. 2010 Jul 22;5(7):e11707.
Sirtuin 3, a new target of PGC-1alpha, plays an important role in the suppression of ROS and mitochondrial biogenesis.
Kong X, Wang R, Xue Y, Liu X, Zhang H, Chen Y, Fang F, Chang Y.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2908542/pdf/pone.0011707.pdf
Review:
Sirtuin regulation of mitochondria: energy production, apoptosis, and signaling.
Verdin E, Hirschey MD, Finley LW, Haigis MC.
Trends Biochem Sci. 2010 Dec;35(12):669-75. Epub 2010 Sep 20. Review.
Date: , January 11, 2011
Speaker: Neng Chen, MD
Title: NextGen sequencing in molecular diagnosis
Reference:
Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency. Haack TB, Danhauser K, Haberberger B, Hoser J, Strecker V, Boehm D, Uziel G, Lamantea E, Invernizzi F, Poulton J, Rolinski B, Iuso A, Biskup S, Schmidt T, Mewes HW, Wittig I, Meitinger T, Zeviani M, Prokisch H. Nat Genet. 2010 Dec;42(12):1131-4. Epub 2010 Nov 7. http://www.nature.com/ng/journal/v42/n12/abs/ng.706.html
Date: January 18, 2011
Speaker: Stephanie Sottile, MS in Human Genetics and Genetic Counseling
Title: "RAD51C in Fanconi anemia and breast/ovarian cancer susceptibility"
References:
1. Mutation of the RAD51C gene in a Fanconi anemia-like disorder.
Vaz F, Hanenberg H, Schuster B, Barker K, Wiek C, Erven V, Neveling K, Endt D, Kesterton I, Autore F, Fraternali F, Freund M, Hartmann L, Grimwade D, Roberts RG, Schaal H, Mohammed S, Rahman N, Schindler D, Mathew CG.
Nat Genet. 2010 May;42(5):406-9. Epub 2010 Apr 18.PMID: 20400963
2. Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene.
Meindl A, Hellebrand H, Wiek C, Erven V, Wappenschmidt B, Niederacher D, Freund M, Lichtner P, Hartmann L, Schaal H, Ramser J, Honisch E, Kubisch C, Wichmann HE, Kast K, Deissler H, Engel C, Müller-Myhsok B, Neveling K, Kiechle M, Mathew CG, Schindler D, Schmutzler RK, Hanenberg H.
Nat Genet. 2010 May;42(5):410-4. Epub 2010 Apr 18.PMID: 20400964
Date: , January 25, 2011
Speaker: Louanne Hudgins, M.D.
Title: It’s a Mixed Bag: Mechanisms of mosaicism, chimerism, and uniparental disomy
References:
Articles:
Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis.
Conlin LK, Thiel BD, Bonnemann CG, Medne L, Ernst LM, Zackai EH, Deardorff MA, Krantz ID, Hakonarson H, Spinner NB.
Hum Mol Genet. 2010 Apr 1;19(7):1263-75. Epub 2010 Jan 6.
Chimerism resulting from parthenogenetic activation and dispermic fertilization.
Winberg J, Gustavsson P, Lagerstedt-Robinson K, Blennow E, Lundin J, Iwarsson E, Nordenström A, Anderlid BM, Bondeson ML, Nordenskjöld A, Nordgren A.
Am J Med Genet A. 2010 Sep;152A(9):2277-86.
Date: , February 1, 2011
Speaker: Sarah Garcia, PhD
Title: When Complex is Mendelian: the use of candidate exome sequencing to identify genetic contributors to impulsitivity.
References:
Article: A population-specific HTR2B stop codon predisposes to severe impulsivity.
Bevilacqua L, Doly S, Kaprio J, Yuan Q, Tikkanen R, Paunio T, Zhou Z, Wedenoja J, Maroteaux L, Diaz S, Belmer A, Hodgkinson CA, Dell'osso L, Suvisaari J, Coccaro E, Rose RJ, Peltonen L, Virkkunen M, Goldman D.
Nature. 2010 Dec 23;468(7327):1061-6.
Date: , February 8, 2011
Speaker: Scott Seeley
Title: Cell biology meets Peutz Jeghers syndrome: organelle-based signaling in a heritable cancer syndrome
References:
Christopher Boehlke et al. Primary cilia regulate mTORC1 activity and cell size through Lkb1. 2010 Nature Cell Biology
Date: , February 15, 2011
Speaker: James Ford, MD
Title: Genetic clues to treating pancreatic neuroendocrine tumors
References:
DAXX/ATRX, MEN1, and mTOR Pathway Genes Are Frequently Altered in Pancreatic Neuroendocrine Tumors.
Jiao Y, Shi C, Edil BH, de Wilde RF, Klimstra DS, Maitra A, Schulick RD, Tang LH, Wolfgang CL, Choti MA, Velculescu VE, Diaz LA Jr, Vogelstein B, Kinzler KW, Hruban RH, Papadopoulos N. Science. 2011 Jan 20. [Epub ahead of print]
Sunitinib malate for the treatment of pancreatic neuroendocrine tumors.
Raymond E, Dahan L, Raoul JL, Bang YJ, Borbath I, Lombard-Bohas C, Valle J, Metrakos P, Smith D, Vinik A, Chen JS, Hörsch D, Hammel P, Wiedenmann B, Van Cutsem E, Patyna S, Lu DR, Blanckmeister C, Chao R, Ruszniewski P. N Engl J Med. 2011 Feb 10;364(6):501-13.
Everolimus for advanced pancreatic neuroendocrine tumors.
Yao JC, Shah MH, Ito T, Bohas CL, Wolin EM, Van Cutsem E, Hobday TJ, Okusaka T, Capdevila J, de Vries EG, Tomassetti P, Pavel ME, Hoosen S, Haas T, Lincy J, Lebwohl D, Öberg K; RAD001 in Advanced Neuroendocrine Tumors, Third Trial (RADIANT-3) Study Group. N Engl J Med. 2011
Date: February 22, 2011
Speaker: Reana Tischler
Title: Expanded carrier testing using next-generation sequencing
References:
Carrier testing for severe childhood recessive diseases by next-generation sequencing.
Bell CJ, Dinwiddie DL, Miller NA, Hateley SL, Ganusova EE, Mudge J, Langley RJ, Zhang L, Lee CC, Schilkey FD, Sheth V, Woodward JE, Peckham HE, Schroth GP, Kim RW, Kingsmore SF.
Sci Transl Med. 2011 Jan 12;3(65):65ra4.
Date: March 1, 2011
Speaker: Joachim Hallmayer, MD
Title: Forget the parents – it’s de novo
References:
Direct measure of the de novo mutation rate in autism and schizophrenia cohorts.
Awadalla P, Gauthier J, Myers RA, Casals F, Hamdan FF, Griffing AR, Côté M, Henrion E, Spiegelman D, Tarabeux J, Piton A, Yang Y, Boyko A, Bustamante C, Xiong L, Rapoport JL, Addington AM, DeLisi JL, Krebs MO, Joober R, Millet B, Fombonne E, Mottron L, Zilversmit M, Keebler J, Daoud H, Marineau C, Roy-Gagnon MH, Dubé MP, Eyre-Walker A, Drapeau P, Stone EA, Lafrenière RG, Rouleau GA.
Am J Hum Genet. 2010 Sep 10;87(3):316-24.
A de novo paradigm for mental retardation.
Vissers LE, de Ligt J, Gilissen C, Janssen I, Steehouwer M, de Vries P, van Lier B, Arts P, Wieskamp N, del Rosario M, van Bon BW, Hoischen A, de Vries BB, Brunner HG, Veltman JA.
Nat Genet. 2010 Dec;42(12):1109-1
Date: March 8, 2011
Speaker: Kim VandeWydeven, MS in Human Genetics and Genetic Counseling Intern
Title: The Discovery of KILLIN and its Role in Cowden and Cowden-like Syndromes
Date: March 15, 2011
Speaker: Hua Tang, PhD
Title: Making sense of GWAS hits
References:
1.MYH9 is a major-effect risk gene for focal segmental glomerulosclerosis. Nature Genetics 40, 1175 - 1184 (2008) doi:10.1038/ng.226
2. Association of trypanolytic ApoL1 variants with kidney disease in African Americans. Genovese G, Friedman DJ, Ross MD, Lecordier L, Uzureau P, Freedman BI, Bowden DW, Langefeld CD, Oleksyk TK, Uscinski Knob AL, Bernhardy AJ, Hicks PJ, Nelson GW, Vanhollebeke B, Winkler CA, Kopp JB, Pays E, Pollak MR.Science. 2010 Aug 13;329(5993):841-5. Epub 2010 Jul 15. PMID:20647424
Date: March 22, 2011
Speaker: Anna-Kaisa Niemi, MD, PhD
Title: Assembling the etiology of complex III deficiency
References:
Article: "A novel cause gene TTC19 causes mitochondrial complex III deficiency and neurological impairment in humans and flies."
Daniele Ghezzi, Paola Arzuffi, Mauro Zordan, Caterina Da Re, Costanza Lamperti, Clara Benna, Pio D'Adamo, Daria Diodato, Rodolfo Costa, Caterina Mariotti, Graziella Uziel, Cristina Smiderle & Massimo Zeviani.
Nature Genetics. 2011 Mar;43(3):259-63. Epub 2011 Jan 30.
Date: March 29, 2011
Speaker: Amrita Ray
Title: Genetic heterogeneity and pathway in Schizophrenia
References:
Article: Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia
http://www.sciencemag.org/content/320/5875/539.full
Article: Microduplications of 16p11.2 are associated with Schizophrenia
http://www.nature.com/ng/journal/v41/n11/abs/ng.474.html
Date: April 5, 2011
Speaker: Nilesh Dharajiya
Title: Noninvasive Prenatal Diagnosis by deep sequencing of maternal plasma DNA
References:
Y. M. Dennis Lo, et al.
Sci Transl Med 2, 61ra91 (2010);
Maternal Plasma DNA Sequencing Reveals the Genome-Wide Genetic and
Mutational Profile of the Fetus
DOI: 10.1126/scitranslmed.3001720
Date: April 12, 2011
Speaker: Uta Francke, MD
Title: Growth hormone receptor defect: effects on aging, cancer and diabetes in Ecuador
References:
Guevara-Aguirre J et al
Growth Hormone Receptor Deficiency Is Associated with a Major Reduction in Pro-Aging Signaling, Cancer, and Diabetes in Humans Science Transl Med 16 February 2011:
Vol. 3, Issue 70, p. 70ra13
DOI: 10.1126/scitranslmed.3001845
http://stm.sciencemag.org/content/3/70/70ra13.full.pdf
Date: April 19, 2011
Speaker: Brandon Steelman, MS
Title: The genome ain't flat: unravelling genetic regulation and disease in 3D
References:
Lieberman-Aiden et al. Comprehensive Mapping of Long-Range Interactions Reveals Folding Principles of the Human Genome. Science (2009) vol. 326 (5950) pp. 289-293
Schoenfelder et al. Preferential associations between co-regulated genes reveal a transcriptional interactome in erythroid cells. Nature Genetics (2010) vol. 42 (1) pp. 53-61
Date: April 26, 2011
Speaker: Darrell Wilson, MD – Pediatric Endocrinology
Title: ‘Heritability of Growth and Pubertal Development”
Date: May 3, 2011
Speaker: Hui Wang
Title: Cloud computing: is it the data solution for the next generation sequencing?
References:
Monya Baker. Next-generation sequencing: adjusting to data overload. Nature Methods 7, 495 - 499 (2010)
Lincoln Stein. The case for cloud computing in genome informatics. Genome Biology 2010, 11:207
Date: May 10, 2011
Speaker: Andrea Kwan, MS, CGC
Title: The role of FOXP1 in intellectual disability and speech and language impairment
References:
Hamdan et al, De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment. Am J Hum Genet. 2010 Nov 12;87(5):671-8. Epub 2010 Oct 14.Horn D, et al, Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits. Hum Mutat. 2010 Nov;31(11):E1851-60.
Date: May 17, 2011
Speaker: Lee Kozar
Title: Results from The 1000 Genome Project (and other ways to map human genome variation).
Resources:
Nature, 457:1061-1073 (2010)
Date: May 24, 2011
Speaker: Jonathan Bernstein, MD, PhD
Title: Mutations in HEPACAM underlie cases of benign familial macrocephaly, macrocephaly-autism syndrome and megencephalic leukoencephalopathy with subcortical cysts.
References:
Mutant GlialCAM Causes Megalencephalic Leukoencephalopathy with Subcortical Cysts, Benign Familial Macrocephaly, and Macrocephaly with Retardation and Autism.
López-Hernández T, Ridder MC, Montolio M, Capdevila-Nortes X, Polder E, Sirisi S, Duarri A, Schulte U, Fakler B, Nunes V, Scheper GC, Martínez A, Estévez R, van der Knaap MS.
Am J Hum Genet. 2011 Apr 8;88(4):422-32. Epub 2011 Mar 17.
PMID: 21419380
Date: May 31, 2011
Speaker: Kelly Ormond, MS, CGC
Title : What’s eMERGE-ing about genomic research ethics: Patient preferences about recontact and reconsent from the eMERGE study
Glad you asked: participants' opinions of re-consent for dbGap data submission.
References:
Ludman EJ, et al.J Empir Res Hum Res Ethics. 2010 Sep;5(3):9-16.
- http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3071850/pdf/nihms279224.pdf
- Research Practice and Participant Preferences: The Growing Gulf
- Trinidad SB et al.
Science 21 January 2011: 287-288.
- Response—The Risks and Benefits of Re-Consent
- Trinidad SB et al.
Science 15 April 2011: 306.
Date: June 7, 2011
Speaker: Athena Cherry, PhD
Title : Insertional Translocations: Rare or Common?
References:
Kang et al.," Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results", American Journal of Medical Genetics, Part A, (2010), 152A:1111-1126
Neill et al., "Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH", Genome Research (2011), 21:535-544
Date: June 14, 2011
Speaker: Melanie Manning, MD
Title : Down Syndrome – There’s Still More To Learn
References:
1) Am J Med Genet part A 155:1246-1257, "Balanced information about Down syndrome: what is essential?"
http://sfx.stanford.edu/local?sid=Entrez:PubMed&id=pmid:21548127
2) Am J Med Genet part A 155:1258-12763, "Understanding physicians' attitudes toward people with Down syndrome"
http://sfx.stanford.edu/local?sid=Entrez:PubMed&id=pmid:21574247
Date: June 21, 2011
Speaker: Hugh Rienhoff, MD
Title: My Daughter’s DNA….Revealed
