2013 News Feature Nhgri Participates In 63rd Annual American Society Of Human Genetics Meeting In Boston Oct 2226

Annual American Society of Human Genetics Meeting in Boston, Oct. 22-26

By Raymond MacDougall
Associate Director of Communications, Division of Intramural Research

Visit NHGRI at Booth 840

The World Series is just one of the passions heating up in Boston this week. The other is the American Society of Human Genetics (ASHG) annual meeting, involving DNA bases rather than those on a baseball diamond. Presenters and exhibitors from the National Human Genome Research Institute (NHGRI) will be on hand for the meeting, that runs Oct. 22-26, 2013 at the Boston Convention & Exhibition Center.
 
This year's meeting celebrates three homeruns in the field of genomics: the 60th anniversary of the discovery of the double helix, the 10th anniversary of the completion of the Human Genome Project and the 65th anniversary of ASHG. Booth 840 on the exhibit floor will be home base for NHGRI, while the sessions and poster halls will include science from the bench at NHGRI. NHGRI researchers will make 13 platform presentations, moderate seven sessions, and present almost 25 research posters among the hundreds demonstrating scientific progress in myriad areas of genomics.
 
Two NHGRI investigators served on the 21-member ASHG program committee this year. Each committee member was responsible for gathering the best scientific content in a designated area. NIH Distinguished Investigator Elaine Ostrander, Ph.D., chief of NHGRI's Cancer Genetics Branch, oversaw the molecular basis of disorders topic. Alexander Wilson, Ph.D., co-chief of NHGRI's Inherited Disease Research Branch, assembled research content about statistical genetics and genetic epidemiology.
 
The ASHG meeting opens on Tuesday followed by an interactive play co-written by Karen Rothenberg, JD, M.P.A., senior advisor to the NHGRI Office of the Director on genomics and society, and Lynn Bush, Ph.D., Columbia University in New York City. Tickets sold out early for their play, "The Drama of DNA: Anticipating the Future with Whole Genome Sequencing." The play centers on a hypothetical research study that proposes using whole genome sequencing for children who have autism spectrum disorder and their unaffected siblings and parents. Several NHGRI actors, including NHGRI Director Eric D. Green, M.D., Ph.D., will star in the play. 

Over the next four days, the meeting hits its stride with a variety of sessions moderated by NHGRI staff. These include:  

• "Does the Increasingly Blurry Distinction between Research and Clinical Care Create an Obligation to Actively Search for Secondary Findings in Genomic Research or Otherwise Change the Relationship between Researchers and Participants?"
  8-10 a.m., Wed., Oct. 23, Session 5, Grand Ballroom East, Level 2
  Benjamin E. Berkman, J.D., M.P.H., deputy director, Bioethics Core, NHGRI
   
• "Inborn Errors of Metabolism: From Identification to Treatment"
  2-4 p.m., Wed. , Oct. 23, Session 18: Grand Ballroom CDE, Concourse Level, Westin Boston Waterfront Hotel
  Irini Manoli, Genetics and Molecular Biology Branch, NHGRI
   
• "Advances in the Genetics of Skeletal and Morphologic Disorders"
  8-10:15 a.m., Thurs., Oct. 24, Session 26, Grand Ballroom AB, Concourse Level, Westin Boston Waterfront Hotel
  Charles Venditti, investigator, Genetics and Molecular Biology Branch NHGRI
   
• "Genetic Testing for Neurodevelopmental Disease: Genotype-Phenotype Challenges"
  2-4:15 p.m., Thurs., Oct. 24, Session 32, Room 205, Level 2, Convention Center
  David R. Adams, M.D., Ph.D., Medical Genetics Branch, NHGRI
   
• "Genetics of Non-communicable Diseases in Sub-Saharan Africa"
  4:30-6:30 p.m., Thurs., Oct. 24, Session38, Room 258, Level 2, Convention Center
  Adebowale Adeyemo, Center for Research on Genomics and Global Health, NHGRI
   
• "Ethical, Legal, Social and Policy Issues"
  2-4:15 p.m., Fri., Oct. 25, Session 60, Room 258, Level 2, Convention Center
  Barbara Biesecker, Social and Behavioral Research Branch, NHGRI
   
• "Somatic Mutations in Human Disease - Piecing Together the Mosaic"
  9:30-11:30 a.m., Sat., Oct. 26, Session 72, Room 210, Level 2, Convention Center
  Leslie Biesecker, Genetic Disease Research Branch, NHGRI                          

NHGRI staff will also participate in the following presentations:

• 2:15 p.m., Wed., Oct. 23, No. 17 of Session 11, Grand Ballroom, East, Level 3
  A 15-minute presentation in collaboration with NHGRI's Medical Genetics Branch, "The National Institutes of Health Undiagnosed Diseases Program: The first four years." The presentation is-The Shifting Landscape of Genetic Testing: Approaches and Success Stories." 
   
• 4 p.m., Wed., Oct. 23, No. 51, Session 14, Cancer Epidemiology: New Loci and Methods, Room 205, Level 2
  A 15-minute presentation from lab of NHGRI's Elaine Ostrander, Ph.D., NIH distinguished investigator, "Finding genes in animal models of histiocytic carcinoma."

• 2 p.m., Wed. , Oct. 23, No. 61, Session 16: Expanding Knowledge of Mendelian Disorders: Genes, Phenotypes and Treatment, Room 258, Level 2
  A 15-minute presentation of a research collaboration with NHGRI Medical Genetics Branch investigators, "NIH Study, Clinical and Molecular Investigations into Ciliopathies: Findings in Alstrom syndrome."

• 2:15 p.m., Weds. , Oct. 23, No. 80, Session 18, Grand Ballroom  CDE, Concourse Level, Westin Boston Waterfront Hotel
  A 15-minute presentation representing research in the NHGRI Genetics and Molecular Biology Branch
   
• 9:45-10 a.m., Thurs., Oct. 24, No. 122, Session 22 - Cardiovascular Genetics: Gene Discovery through GWAS and Sequencing, Room 210, Level 2, Convention Center
  A 15-minute presentation of research conducted with the NHGRI Center for Research on Genomics and Global Health
   
• 2:45-3 p.m., Thurs., Oct. 24, No. 172, Session 28 - Low Frequency Variants for Complex Traits, Hall B2, Lower Level, Convention Center
  A 15-minute presentation of research conducted with NHGRI Genome Technology Branch researchers
   
• 3:30-3:45 p.m., Thurs., Oct. 24, No. 175, Session 28 - Low Frequency Variants for Complex Traits, Hall B2, Lower Level, Convention Center
  A 15-minute presentation of research conducted with NHGRI Genome Technology Branch researchers
   
• 2:15-2:30 p.m., Thurs., Oct. 24, No. 233, Session 35 - Genomic Medicine: Counseling, Education and Health Services
  A 15-minute presentation of research conducted with the NHGRI Social and Behavioral Research Branch and the Genetic Disease Research Branch, NHGRI 
   
• 3:15-3:30 pm., Thurs., Oct. 24, No. 246, Session 36 - Biochemical and Clinical Consequences of Mitochondrial Dysfunction, Grand Ballroom CDE, Concourse Level, Westin Boston Waterfront Hotel
  A 15-minute presentation of research conducted with the NHGRI Genetics and Molecular Biology Branch
   
• 4:30 p.m., Thurs., Oct. 24, Session 38 - Genetics of Non-communicable Diseases in Sub-Saharan Africa, Room 258, Level 2, Convention Center
  F. Tekola-Ayele, Center for Research on Genomics and Global Health, will present, "The African Genome Variation Project."
   
• 8:15-8:30 p.m., Fri., Oct. 25, No. 287, Session 49 - New  Genes and Disorders, Room 205, Level 2, Convention Center
  A 15-minute presentation that of research conducted with the NHGRI Medical Genetics Branch
   
• 3:00-3:15 p.m., Fri., Oct. 25, No. 371, Session 58 - Cardiovascular Genetics: Functional Characterization and Clinical Applications, Room 205, Level 2, Convention Center
  A 15-minute presentation that of research conducted with the NHGRI Medical Genetics Branch

Posters from laboratories, representing each of the institute's seven intramural branches, include research in the following categories:

Pharmacogenetics

• 726W Incidental pharmacogenetic variants identified by massively parallel sequencing in the ClinSeq® study.  

Complex Traits and Polygenic Disorders

• 760T Imputation of Turkish Population Genotypes Using Immunochip Data and 1000 Genomes Reference Reveals Behçet's Disease Association of SNPs in the EGR2 Locus.
• 898T Genome-wide association study identifies novel loci associated with abdominal obesity in Africans.  
• 909W The First Genome-wide Association Study of Serum Lipids among Africans.  
• 1086W Analyses of WES data in multiplex Syrian non-syndromic oral clefts families.  

Statistical Genetics and Genetic Epidemiology

• 1759F Meta-Analysis of Genome-Wide Association Studies in Myopia in Nine Populations.  
• 1899T Functional Linear Models for Association Analysis of Quantitative Traits.  

Evolutionary and Population Genetics

• 1975F Using evolutionary profiles to better-inform model organism selection for human disease research.  

Therapy for Genetic Disorders

• 2309T Lipid storage and impaired function in iPSC and monocyte - derived Gaucher macrophages are reversed with a non-inhibitory chaperone.  

Metabolic Disorders

• 2313T Decoding the biochemistry of Snyder-Robinson Syndrome: Using yeast to model the polyamine biosynthetic defect.  
• 2316F Defective autophagy limits IL-1 beta production by eliminating active inflammasomes in human Gaucher macrophages.  
• 2328F Thiamine pyrophosphate deficiency secondary to TPK-1 mutation presenting as Leigh's disease: diagnosis and management within a sibling pair.  
• 2341T Somatic Mosaicism with Reversion to Wild Type in Congenital Disorder of Glycosylation, Type IIb.  
• 2344F Reduced levels of ATP7A protein in a male child with subtle features of Menkes disease in the absence of ATP7A mutation suggest a novel defect in transcriptional regulation associated with a unique disorder of copper metabolism.  
• 2356F A zebrafish model of cblC disease displays growth retardation that improves with vitamin B12 therapy.  
• 2363T Assaying interallelic complementation in vivo at the Mut locus with adeno-associated (AAV) viral gene delivery.  
• 2371T Hepatic adaptations during infection: implications for inborn errors ofmetabolism.  
• 2397T Longterm follow up of 15 patients with methylmalonic acidemia following solid organ transplantation.  
• 2406F Defective T-cell function in a mouse model of Citrullinemia Type I.  

Ethical, Legal, Social and Policy Issues in Genetics

• 2451W Incidental Findings and the ACMG Guidelines: What is the Real Burden?  

Clinical Genetics and Dysmorphology

• 2762F Pregnancy in Autosomal Recessive Polycystic Kidney Disease/Congenital Hepatic Fibrosis (ARPKD/CHF).  

Molecular Basis of Mendelian Disorders

• 2901T Mutations in Sonic hedgehog signaling pathway predispose to fatty liver.  
• 2917F Hypervitaminosis D due to 1,25-(OH)2D-24 hydroxylase (CYP24A1) deficiency causing nephrocalcinosis and nephrolithiasis.  

Development

• 3163W NIH Study Clinical and Molecular Investigations into Ciliopathies: Findings on Joubert Syndrome and Related Disorders (JSRD). 
• 3184W AKT1 gene mutation levels are correlated with the type of dermatologic lesions in patients with Proteus syndrome.  

Cancer Genetics

• 3281F IdentificationofSusceptibilityLociinHereditaryProstateCancerFamilies Using Copy Number Variation and Linkage Analysis.

 
The ASHG Annual Meeting is the largest human genetics meeting and exposition in the world, expected to draw more than 6,500 scientific attendees.

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Posted: October 22, 2013