NHGRI leadership, investigators, and trainees to spotlight institute research at ASHG annual meeting
By Raymond MacDougall
Associate Director of Communications, Division of Intramural Research
Visit NHGRI at Booth #1922
National Human Genome Research Institute (NHGRI) researchers and trainees will contribute 11 platform presentations and more than 50 posters describing institute research at the 64th annual meeting of the American Society of Human Genetics (ASHG). The highly anticipated annual meeting, held at the San Diego Convention Center, Oct. 18 - 22, will focus on human genetics and cutting-edge science across this rapidly evolving field.
"This meeting has traditionally been an important venue where genetic and genomic scientists engage with their American and international colleagues to learn about what they're doing across the spectrum of research in the areas from basic science to clinical applications to ethics," said NHGRI Director Eric Green, M.D., Ph.D.
Beyond presentations and posters, NHGRI contributions include a workshop, "Building your genomics business," offering insights on small business incentive grants, and a new play, "Navigating the Thorny Landscape on a Path from Newborn Screening to Genome Sequencing." Dr. Green and other notable leaders from the genetics community will play leading roles in the play that breathes life into the complex questions that genetics and genomics research advances pose for all of us.
On the international front, Barbara Bowles Biesecker, Ph.D., associate investigator, NHGRI Social and Behavioral Research Branch, will moderate and present at a panel session between the ASHG and the European Society of Human Genetics. It is the second in a Building Bridges series and will focus on the notion of uncertainty in genomic medicine.
Shurjo Sen, Ph.D., NHGRI postdoctoral fellow in the Cardiovascular Disease Section and recipient of ASHG's annual Cotterman Award, will present the paper, "Integrative DNA, RNA, and Protein Evidence Connects TREML4 to Coronary Artery Calcification." The paper, which he co-authored, was published in the July 2014 issue of the American Journal of Human Genetics. A selection committee chose his paper as one of two articles that best represent outstanding contributions to the field of genetics. Ryann Neff, NHGRI post baccalaureate trainee in the Gibbons group, will present a 15 minute oral platform presentation (#37, below) selected from the pool of poster presentations. The presentation will describe research to uncover clinically relevant gene variants in an African-American population.
In addition to the scientific sessions and presentations (listed below), NHGRI will debut a new institute video showcasing NHGRI history, laboratories and programs. NHGRI staff, including Dr. Green, will be available to talk and visit with meeting attendees at Booth #1922 throughout the week. A time table for when staff will be present will be available at the booth.
"We are particularly excited about the timing and location of this year's ASHG meeting," Dr. Green said. "We hope that some of the meeting 6,500 attendees will take time to visit our exhibition, Genome: Unlocking Life's Code, at the city's Reuben H. Fleet Science Center." The exhibition, a collaboration between NHGRI and the Smithsonian Institute, is on its first tour stop across the country and will remain in San Diego through the end of this year. For a preview of the exhibition's schedule, go to www.genome.gov/27558789/2014-News-Release-Genome-exhibition-to-depart-Smithsonian-for-multicity-tour.
The following is a list of the contributions that NHGRI will be bringing to the 2014 ASHG meeting (the ASHG program number is provided in bold where applicable):
ASHG/ESHG Building Bridges Session
- 48. Tues., Oct. 21, 8:30-10 a.m.: Towards Finding Global Agreement on Topical Discussions in Genetics: Evolving Uncertainties in Genomic Medicine (Barbara Biesecker moderating and presenting about the "Uncertainties in consenting to participate in sequencing studies and receive results"; Leslie Biesecker presenting about "A taxonomy of uncertainty in clinical genomics").
- 77. Shurjo Sen, One of two recipients of the annual Cotterman Award for the paper:
Integrative DNA, RNA, and Protein Evidence Connects TREML4 to Coronary Artery Calcification, AJHG 95:66-76, July 2014. Award ceremony on Wed., Oct. 22, 11:15 a.m., San Diego Convention Center (Room 20BC, Upper Level).
Drama of DNA Production, an ASHG Ancillary Event
- Sat., Oct. 18, 7-9 p.m. - Navigating the Thorny Landscape on a Path from Newborn Screening to Genome Sequencing: A Play Brings to Life the Drama of DNA; Marriott Marquis & Marina G, South Tower, Level 3 (Barbara Biesecker, Eric Green)
- 37. Sun., Oct. 19, 1:30-3:30 p.m. - Session: Variant Calling: What Makes the Difference?; San Diego Convention Center, Room 20A, Upper Level (Ryan Neff, Gary Gibbons, Adam Davis : collaborators on the presentation Alignment to an Ancestry Specific Reference Genome Discovers Additional Variants Among 1000 Genomes ASW Cohort).
- 46. Sun., Oct.19, 1:30-3:30 p.m. - Session: New Genes, Incidental Findings and Unexpected Observations Revealed by Exome Sequencing; San Diego Convention Center, Room 20BC, Upper Level (Jennifer Johnston, Katie Lewis, David Ng, Larry Singh, Fabio Candotti, Steve Gonsalves, Suzanne Hart, Rob Sokolic, Jim Mullikin, Leslie Biesecker: collaborators on the presentation Individualized iterative phenotyping for genome-wide analysis of loss of function mutations).
- 142. Mon., Oct. 20, 10:30 a.m.-12:30 p.m. - Session: Metabolic Disorders: New Diagnostics and Pathogenic Insights; San Diego Convention Center, Room 28, Upper Level (Carlos Ferreira, William Gahl will be collaborators on the presentation Novel insights regarding the pathogenesis and treatment of Pseudoxanthoma Elasticum).
- 146. Mon., Oct. 20, 10:30 a.m.-12:30 p.m. - Session: Metabolic Disorders: New Diagnostics and Pathogenic Insights; San Diego Convention Center, Room 28, Upper Level (William Gahl, Mariska Davids, Megan Kane, Cornelius Boerkoel: collaborators on the presentation Application of cellular O-linked glycomics analysis for the diagnosis of protein glycosylation disorders).
- 149. Mon., Oct. 20, 10:30 a.m.-12:30 p.m. - Session: Metabolic Disorders: New Diagnostics and Pathogenic Insights; San Diego Convention Center, Room 28, Upper Level (Madeline Epping, Gene Elliot, Irini Manoli and Charles Venditti : collaborators on the presentation A mouse model of cblA class isolated methylmalonic acidemia (MMA) displays reduced survival, growth failure, renal disease and secondary mitochondrial dysfunction).
- 170. Mon., Oct. 20, 4:30-6:30 p.m. - Session: From Bytes To Phenotypes; San Diego Convention Center, Hall B1, Ground Level (Cornelius Boerkoel and William Gahl: collaborators on the presentation PhenomeCentral: An Integrated Portal for Sharing Patient Phenotype and Genotype Data for Rare Genetic Disorders).
- 183. Mon., Oct. 20, 4:30-6:30 p.m. - Session: Cardiovascular Genetics II: Genetic Discovery and Characterization; San Diego Convention Center, Room 6CF, Upper Level (Francis Collins: collaborators on the presentation Context-specific eQTLs implicate differential genomic regulatory mechanisms in obese and lean Finns).
- 237. Mon., Oct. 20, 4:30-6:30 p.m. - Session: Advances in Defining the Molecular Mechanisms of Mendelian Disorders; San Diego Convention Center, Room 29, Upper Level (Andrew Cullinane, Melissa Merideth, Nancy Hansen, Jim Mullikin, Marjan Huizing: collaborators on the presentation RAB11FIP1 interacts with the BLOC-1 complex to retrieve melanogenic proteins from the recycling pathway and a dominant negative mutation in RAB11FIP1 causes Hermanksy-Pudlak Syndrome Type 10 (HPS-10)).
- 321. Tues., Oct. 21, 11 a.m. - Session: Genetic/Genomic Education and Services Delivery; San Diego Convention Center, Room 30, Upper Level (V. Bonham, C. Easter, E. Schonman, C. Daulton, R. Wise, B. Hurle, J. Witherly: Genome: Unlocking Life's Code-A Museum Exhibition as a Model for Informal Genomics Education.)
- 390. Tues., Oct. 21, 4:30-6:30 p.m. - Session: A Clear Vision for Genetic Eye Diseases; San Diego Convention Center, Room 28, Upper Level (Jennifer Sloan, Kevin Bishop, Marypat Jones, Raman Sood, Charles Venditti: collaborators on the presentation Using zebrafish to assess novel therapeutics and model the eye disease of cblC disease).
- 401. Tues., Oct. 21, 4:30-6:30 p.m. - Session: Pharmacogenetics: From Association to Action; San Diego Convention Center, Room 30, Upper Level (Rongling Li : collaborators on the presentation Prospective participant selection and ranking to maximize actionable PGx variants and discovery in the eMERGE Network).
- Sun., Oct. 19, 12-1:30 p.m. - Building your genomics business with SBIR/STTR support from NHGRI and the NIH; San Diego Convention Center, Room 5B, Upper Level (Zephaun Harvey and Michael Smith)
- 605M. Discovering Copy Number Variations in ClinSeq®: A Large-Scale Whole Exome Sequencing Study. (Genome Structure, variation and function) (Celine Hong, David, Ng, Larry Singh, Nancy Hansen)
- 677M. An integrated platform for the collection of biospecimens to support the Genotype-Tissue Expression (GTEx) Project. (Genome structure, variation and function) (Simona Volpi and Jeff Struewing)
- 705S. A genome-wide association study identified variants in KCNIP4 associated with ACE inhibitor induced cough. (Pharmacogenetics) (Teri Manolio)
- 734M. Assessing the clinical utility of massively parallel sequencing for pharmacogenomics research in the ClinSeq® study. (Pharmacogenetics) (David Ng, Larry Singh, Celine Hong, Katie Lewis, Jim Mullikin, Leslie Biesecker)
- 742S. Exome sequencing of multiplex oral clefts families detects recurrent shared rare variants in 9 genes. (Complex Traits and Polygenic Disorders) (Emily Holzinger, Qing Li)
- 749M. Whole Exome Sequencing of 75 Hereditary Prostate Cancer Families. (Complex Traits and Polygenic Disorders) (Elaine Ostrander, Danielle Karyadi, Eric Karlins, Brennan Decker)
- 832S. Associations between variants in motilin genes and infantile hypertrophic pyloric stenosis. (Complex Traits and Polygenic Disorders) (Lawrence Brody)
- 841S. Candidate Genes for Non-syndromic Orofacial Clefts Identified by GWAS Were Assessed in Two African Populations. (Complex Traits and Polygenic Disorders) (Adebowale Adeyemo)
- 859S. Sequencing of the TBX6 Gene in Families with Familial Idiopathic Scoliosis. (Complex Traits and Polygenic Disorders) (Cristina Justice)
- 866M. The Role of ALDH7A1 in Body Composition among West Africans. (Complex Traits and Polygenic Disorders) (Amy Bentley, Guanjie Chen, Daniel Shriner, Ayo Doumatey, Adebowale Adeyemo, Charles Rotimi)
- 889S. A non-coding variant near BMP2 associated with sagittal non-syndromic craniosynostosis causes differential GFP expression in zebrafish. (Complex Traits and Polygenic Disorders) (Cristina Justice, Blake Carrington, Raman Sood)
- 903TeMERGE Phenome-Wide Association Study (PheWAS) Identifies Clinical Associations and Pleiotropy for Functional Variants. (Complex Traits and Polygenic Disorders) (Rongling Li)
- 951T. Genetic variation predicts serum lycopene concentrations in multi-ethnic population of postmenopausal women. (Complex Traits and Polygenic Disorders) (Carolyn Hutter)
- 977M. Comprehensive curation and visualization of ethnicity information from published genome-wide association studies (GWAS): an improved GWAS Catalog. (Complex Traits and Polygenic Disorders) (Lucia Hindorff, Heather Junkins, Kent Klemm, Teri Manolio, Peggy Hall)
- 1004M. Genome-wide Mega-Analysis on Myopia and Refractive Error in CREAM and 23andMe. (Complex Traits and Polygenic Disorders) (Robert Wojciechowski)
- 1012S. The PhenX Toolkit: A Genomic Resource for Standard Measures of Phenotypes and Exposures. (Complex Traits and Polygenic Disorders) (Erin Ramos)
- 1088M. Candidate high-penetrance locus for myopia identified on chromosome 7 using linkage and family-based association analyses of exome chip data in 3 U.S. populations. (Complex Traits and Polygenic Disorders) (Joan Bailey-Wilson and Claire Simpson)
- 1102S. APOL1-associated kidney disease risk and hypertension management in primary care - A project of the IGNITE Network (Implementing GeNomic medicine In pracTicE). (Complex Traits and Polygenic Disorders) (Ebony madden and Heather Junkins)
- 1225S. De Novo Mutations in Autistic Children from Multiplex Families. (Psychiatric Genetics, Neurogenetics and Neurodegeneration) (Claire Simpson, Y. Kim, Nancy Hansen, Jim Mullikin, Joan Bailey-Wilson)
- 1449T. Standardized phenotyping enables rapid and accurate prioritization of disease-associated and previously unreported sequence variants. (Bioinformatics and Genomic Technology) (William Bone, David Adams, David Draper, Elise Flynn, Rena Godfrey, Catherine Groden, Elizabeth Lee, Amadna Links, Thomas Markello, Michele Nehrebecky, Murat Sincan, Cynthia Tifft, Camilo Toro, Elise Valkanas, Colleen Wahl, Lynne Wolfe, Cornelius Boerkoel, William Gahl)
- 1505T. Diploid Alignment of Whole Human Genome Data. (Bioinformatics and Genomic Technology) (Elise Valkanas, William Bone, Elise Flynn, Amanda Links, Cornelius Boerkoel, David Adams, William Gahl)
- 1634T. ClinGen database for curation of clinically relevant genomic variants. (Bioinformatics and Genomic Technology) (Erin Ramos)
- 1756M. Genome-wide association study in West Africans identifies SEMA4D as a susceptibility gene for Obesity. (Statistical Genetics and Genetic Epidemiology) (Guanjie Chen, Amy Bentley, Ayo Doumatey, Daniel Shriner, Jie Zhou, Adebowale Adeyemo, Charles Rotimi)
- 1764S. Development and application of a population based statistical framework addressing the n=1 problem in human genetics. (Statistical Genetics and Genetic Epidemiology) (William Gahl, Elise Flynn, Elise Valkanas)
- 1775T. Fine-mapping of additive and dominance effect SNPs using group-LASSO and Fractional Resample Model Averaging. (Statistical Genetics and Genetic Epidemiology) (Jeremy Sabourin)
- 1811T. Addressing population-specific multiple testing burdens in genetic association studies. (Statistical Genetics and Genetic Epidemiology) (Daniel Shriner)
- 1828M. Leveraging Family Structure for the Analysis of Rare Variants in Known Cancer Genes from WES of African American Hereditary Prostate Cancer. (Statistical Genetics and Genetic Epidemiology) (Cheryl Cropp, Danielle Karyadi, Elaine Ostrander, Joan Bailey-Wilson)
- 1840M. Efficiently Incorporating Annotation Information into the Analysis of Genomic Sequence Variants in Pedigree Samples. (Statistical Genetics and Genetic Epidemiology) (Qing Li and Joan Bailey-Wilson)
- 1845S. Statistical Tests for Co-Segregation of Genetic Variants with Disease in Pedigrees. (Statistical Genetics and Genetic Epidemiology) (Elaine Ostrander and Joan Bailey-Wilson)
- 2130M. Association of rare variants in LDLR, HMGCR, NAT2, ABCA1, and APOA1 with plasma lipid levels; initial results from the eMERGE PGx project. (Cardiovascular Genetics) (Simona Volpi)
- 2139S. Rare potentially pathogenic variants in the congenital arrhythmia syndrome disease genes SCN5A and KCNH2 are detected frequently but rarely associated with arrhythmia phenotypes in electronic health records. (Cardiovascular Genetics) (Rongling Li and Teri Manolio)
- 2146M. Replication of a single nucleotide polymorphism variant in CETP gene associated with HDL level in the ClinSeq® Study. (Cardiovascular Genetics) (Heejong Sung, Katie Lewis, David Ng, Steve Gonsalves, Jim Mullikin, Leslie Biesecker, Alexander Wilson)
- 2180M. Inhibition of AKT signaling in Proteus and PROS cells: A simple model for cancer therapeutics targeting the AKT/PI3K pathway. (Cardiovascular Genetics) (Leslie Biesecker, Marjorie Lindhurst, Miranda Yourick)
- 2182M. Treatment of LMNA Laminopathies with the Rapamycin Analog RAD001. (Cardiovascular Genetics) (Amanda DuBose, Noreen Petrash, Michael Erdos)
- 2191S. Genotoxicity after adeno-associated virus (AAV) gene therapy is dependent upon dose, treatment age and enhancer-promoter selection. (Therapy for Genetic Disorders) (Randy Chandler, Matthew LaFave, Gaurav Varshney, Abdel Elkahloun, Shawn Burgess, Charles Venditti)
- 2265T. Bone Health in Children and Adults with Isolated Methylmalonic Acidemia. (Metabolic Disorders) (Jamie Fraser, Jennifer Sloan, Elizabeth Harrington, Irini Manoli, Charles Venditti)
- 2266M. Optic nerve atrophy in methylmalonic acidemia (MMA): natural history, pathological findings and experience with anti-oxidant therapy. (Metabolic Disorders) (Irini Manoli, Jennifer Sloan, Elizabeth Harrington, Charles Venditti)
- 2267T. Ophthalmic manifestations of Cobalamin C disease occur independent of metabolic control and prenatal treatment. (Metabolic Disorders) (Brian Brooks, Jennifer Sloan, Irini Manoli, Charles Venditti)
- 2301T. Stable Isotope Breath Tests to Assess Metabolite Flux in Methylmalonic Acidemia (MMA). (Metabolic Disorders) Elizabeth Harrington, Irini Manoli, Y. Ktena, Julien Senac, Jennifer Sloan, Charles Venditti)
- 2350M. Illuminating the changing landscape from newborn screening to newborn sequencing: Ethical, psychological, and societal implications for research and policy-making in the genomics era. (Ethical, Legal, Social and Policy Issues in Genetics) (Karen Rothenberg)
- 2359T. What do younger breast cancer patients want to learn about individual results from genome sequencing? (Ethical, Legal, Social and Policy Issues in Genetics) (Barbara Biesecker)
- 2364M. Parental decision-making for children enrolled in exome sequencing research and attitudes toward receiving variants of uncertain significance. (Ethical, Legal, Social and Policy Issues in Genetics) (Julie Sapp, Molly Crenshaw, Leslie Biesecker, Barbara Biesecker)
- 2371T. Participant Experiences Receiving Incidental Findings Through Genome Sequencing. (Ethical, Legal, Social and Policy Issues in Genetics) (Katie Lewis, Leslie Biesecker, Barbara Biesecker)
- 2378M. A novel scale to assess perceptions of uncertainty in genome sequencing information. (Ethical, Legal, Social and Policy Issues in Genetics) (Barbara Biesecker, Katie Lewis, Leslie Biesecker)
- 2397S. Genomic Sequencing in the Infant Population: Exploring Parental Motivations, Expectations and Utilization of Sequencing Results in the Tell Me More Study. (Ethical, Legal, Social and Policy Issues in Genetics) (Sara Hull and Ben Berkman)
- 2559M. Use of a Patient-Centered Conceptual Framework to inform the development of the ClinGen Resource. (Clinical Genetic Testing) (Erin Ramos)
- 2566T. The Implementing Genomics in Practice (IGNITE) Network: A Coordinated Effort to Study and Improve Implementation of Genomics in Clinical Practice. (Clinical Genetic Testing) (Ebony Madden and Heather Junkins)
- 2603S. Deletion of 17p11.2 encompasses FLCN with increased risk of Birt-Hogg-Dubé in Smith Magenis Syndrome: Recommendation for Cancer Screening. (Clinical Genetics and Dysmorphology) (Ann Smith, Leah Fleming, Wendy Introne, Thierry Vilboux, Folami Duncan)
- 2630S. Growth Standards for Children and Adolescents with Smith-Magenis Syndrome. (Clinical Genetics and Dysmorphology) (Leah Fleming, Folami Duncan, Wendy Introne, Ann Smith)
- 2669S. Natural history and clinical management of patients with ASXL1 mutations and Bohring-Opitz Syndrome, including the first report of Wilms Tumor in two patients. (Clinical Genetics and Dysmorphology) (Leslie Biesecker and Jennifer Johnston)
- 2731T. Autosomal Dominant Opitz GBBB Syndrome. (Clinical Genetics and Dysmorphology) (Paul Kruszka, Rachel Hart, Ariel Martinez and Max Muenke)
- 2769M. Distribution of the AKT1 p.Glu17Lys mutation in a patient with Proteus syndrome. (Clinical Genetics and Dysmorphology) (Marjorie Lindhurst, Miranda Yourick and Leslie Biesecker)
- 2935S. Genetic study of patients with Joubert Syndrome and Related Disorders. (Molecular Basis of Mendelian Disorders) (Thierry Vilboux, Meghana Vemulapalli, Andrew Cullinane, May Christine Malicdan, Christine Chang, Joy Bryant, Roxanne Fischer, Baishali Maskeri, Alice Young, Jim Mullikin, Marjan Huizing, Meral Gunay-Aygun)
- 2966M. Recurrent mutations cause Ablepharon-macrostomia syndrome and Barber-Say syndrome. (Molecular Basis of Mendelian Disorders) (Taylor Davis, Thomas Markello, Valerie Maduro, Cornelius Boerkoel, William Gahl)
- 3019S. Cell Specific Biochemical Changes in Snyder Robinson Syndrome. (Molecular Basis of Mendelian Disorders) (Jessica Albert, Lynne Wolfe, William Bone, Thomas Markello, David Adams, William Gahl, Cornelius Boerkoel)
- 3049S. Hereditary diffuse leukoencephalopathy with spheroids (HDLS): Novel CSF1R mutations and locus heterogeneity. (Molecular Basis of Mendelian Disorders) (Camilo Toro, Dennis Landis, Rena Godfrey, Michele Nehrebecky, Cornelius Boerkoel, William Gahl)
- 3129S. nlz1 is required for cilia formation in zebrafish embryogenesis. (Development) (Meral Gunay-Aygun, Abdel Elkahloun)
- 3354M. Whole Genome Sequencing of Aggressive, Treatment-Naïve Prostate Tumors. (Cancer Genetics) (Brennan Decker, Danielle Karyadi, Eric Karlins, Brian Davis, Elaine Ostrander)
- 3395S. Evidence of multiple independent NF2 somatic inactivation and tumor initiation events in neurofibromatosis type 2-associated vestibular schwannomas. (Cancer Genetics) (Settara Chandrasekharappa)
- 3468M. Cell cycle progression gene expression score and prostate cancer outcomes in a population-based cohort. (Cancer Genetics) (Elaine Ostrander)
- 3500S. Familial lung cancer: A genetic epidemiology study. (Cancer Genetics) (Joan Bailey-Wilson)
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Posted: October 9, 2014