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NHGRI researchers to present talks, posters at ASHG annual meeting

Visit NHGRI at Booth #2009

logo for the 2015 ASHG conventionNational Human Genome Research Institute (NHGRI) researchers will present four platform talks and 55 posters to highlight the institute's diverse portfolio at the 65th annual meeting of the American Society of Human Genetics (ASHG).

More than 6,500 scientific attendees and 200 exhibitors are expected to attend the October 6-10 meeting, held this year at The Baltimore Convention Center. ASHG is the primary professional membership organization for human genetics specialists worldwide.

ASHG 2015 President Neil Risch, Ph.D., will kick off the Tuesday evening session with the presidential address: All in the Family - or Gee our old LaSalle ran great, and then moderate the presidential symposium titled, Genetic Epidemiology at Scale: High Throughput Genomics Linked to Large Scale HER Systems. National Institutes of Health (NIH) Director Francis Collins, M.D., Ph.D., will begin the symposium discussion by describing the latest developments of the U.S. Precision Medicine Initiative (PMI). 

Other noteworthy highlights include a secure, slide-sharing website for speakers who wish to share their slides with fellow attendees. Attendees can also take advantage of social events such as the #ASHG15 "Tweetup" and genetics-themed receptions.

NHGRI staff will be available at exhibit booth #2009 to discuss NHGRI initiatives, extramural grant and training opportunities as well as the intramural research program. A schedule of staff availability will be available at the booth.

The following is a list of NHGRI contributions to the 2015 ASHG meeting (the ASHG program number and NHGRI presenter is provided in bold where applicable; an * represents poster abstracts that received a reviewer's choice ribbon by scoring in the top 10 percent of their topic):

Platform Presentations

Wednesday, Oct. 7, 2015, 2:30-4:30 p.m. Concurrent Platform Session A

9. Danielle M. Karyadi: Whole exome sequencing in 75 high-risk families identifies eight previously unknown prostate cancer susceptibility genes.
Session #15: Update on Breast and Prostate Cancer Genetics; Baltimore Convention Center, Ballroom I, Level 4

Thursday, Oct. 8, 2015, 2:30-4:30 p.m. Concurrent Platform Session B

124. Khadijah Abdallah: New tool for measuring genetic variation knowledge among health professionals.
Session#31: Genetics/Genomics Education: From Pupils to Parents; Hilton Baltimore Hotel, Holiday Ballroom 4, 2nd Floor

Friday, Oct. 9, 2015, 4:30-6:30 p.m. Concurrent Platform Session C

279. Steven E. Boyden: Vibration-induced urticarial due to aberrant mast cell degranulation caused by a mutation in ADGRE2.
Session #56: Novel Genes, Novel Regulators, and Monogenic Diseases; Baltimore Convention Center, Room 307, Level 3

Saturday, Oct. 10, 2015, 10:30 - 12:30 p.m. Concurrent Platform Session F

379. Madeline Arnold: A mouse model of cbIC deficiency displays reduced survival, growth retardation, and combined methylmalonic academia and hyperhomocysteinemia.
Session #72: Inborn Errors of Metabolism: Novel Disorders, Models, and Observations; Hilton Baltimore Hotel, Holiday Ballroom 1, 2nd Floor

Poster Presentations

Wednesday, Oct. 7, 2015

5:00-6:00 p.m.

1235W. Valerie Gartner: Novel mutations in SPTAN1: expanding the neurological phenotype. (Psychiatric Genetics, Neurogenetics and Neurodegeneration)

1329W. Jeremy A. Sabourin: The use of Complimentary Pairs Stability Selection as an approximation to analysis with replication data. (Statistical Genetics and Genetic Epidemiology)

1425W. Emily Holzinger: A variable selection method for identifying complex genetic models associated with human traits. (Statistical Genetics and Genetic Epidemiology)

1693W. Barbara N. Pusey: SNP-Chip Sibling Ranker: Using SNPChip Data to Inform NextGen Sequencing Choices. (Bioinformatics and Genomic Technology)

2259W. Samson Y. Gebreab: Next-generation sequencing identifies miRNAs in peripheral blood of African Americans related to metabolic syndrome and abdominal obesity. (Health Services Research)  

2437W. Christopher J. Adams: Novel SOX10 variant causing Waardenburg syndrome without cutaneous pigmentary changes. (Clinical Genetics and Dysmorphology)  

2449W. Thomas Markello: TWIST2 is the cause of Ablepharon Macrostomia and Barber Say Syndromes: Reascertainment of two cases lost to follow-up as keys to solving these conditions. (Clinical Genetics and Dysmorphology)  

2571W. Joan E. Bailey-Wilson: Evaluation of candidate risk loci in familial lung cancer families linked to 6q. (Cancer Genetics)  

2701W. Alexander Pemov: Whole exome sequencing and copy-number variation analysis of 20 neurofibromatosis type 2-associated spinal and cranial meningiomas. (Cancer Genetics) 

2781W. Diptasri Mandal: Retaining familial cancer cases and families in a genetic research study on lung cancer. (Cancer Genetics)

2813W. David Bernard: Functional characterization of deleterious alleles in the vitamin B12 receptor, CD320, in humans and mice. (Molecular Basis of Mendelian Disorders)  

2819W. Madeline W. Epping: A Knock-out Mouse Model of CMAMMA (Acsf3 Deficiency) Displays Neurological Phenotype and Methylmalonic Acidemia. (Molecular Basis of Mendelian Disorders)  

2957W. Meral Gunay-Aygun: Mutations in human homologue of chicken talpid-3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Joubert and Jeune syndromes. (Molecular Basis of Mendelian Disorders)  

6:00 - 7:00 p.m.

508W. Paul S. Kruszka: Genetic Modifiers in Women with Turner Syndrome and Bicuspid Aortic Valve: Chromosomal Microarray and Whole Exome Sequencing. (Cardiovascular Genetics)

716W. Guanjie Chen: Common and Rare Exonic Variants Associated with Type 2 Diabetes in Han Chinese. (Complex Traits and Polygenic Disorders)  

1816W. David R. Adams: The NIH Undiagnosed Diseases Program approach to prioritizing variants from genome-scale sequencing. (Bioinformatics and Genomic Technology)  

2404W. Claire L. Simpson: Whole Exome Sequencing of a Syrian Family with Oral Cleft and Split Hand/Foot Syndrome Reveals Novel de novo Mutation in TP63. (Clinical Genetics and Dysmorphology)  

2906W. Jennifer J. Johnston: A point mutation in PDGFRB causes autosomal dominant Penttinen syndrome (Molecular Basis of Mendelian Disorders)  

Thursday, Oct. 8, 2015

11:00 - 12:00 p.m.

489T. Randy J. Chandler: Promoterless gene-targeting using adenoassociated viral (AAV)-mediated homologous recombination to treat methylmalonic academia. (Therapy for Genetic Disorders)

527T. Surjo K. Sen: STEM9, a novel non-coding RNA on chromosome 9p21, is downregulated in coronary artery calcification. (Cardiovascular Genetics)

1381T. Anthony M. Musolf: Linkage Analyses Reveals Significant Association for Myopia. (Statistical Genetics and Genetic Epidemiology)

2045T. Adam R. Davis: Discovery of small RNA biomarkers of hypertension through next-generation sequencing of urinary exosomes. (Clinical Genetic Testing)

2051T. Mariska Davids: A protein glycosylation screen to diagnose rare genetic disorders and unravel disease mechanisms. (Clinical Genetic Testing)

2187T. Adebowale A. Adeyemo: Clinical Annotation of Sequence Variants in a Population-based Study of African Americans: Implications for report of incidental findings. (Ethical, Social and Policy Issues in Genetics)

2265T. Lynne A. Wolfe: the natural history protocol on congenital disorders of glycosylation. (Metabolic Disorders)

2267T. Hadass Pri Chen: Congenital Protein Losing Enteropathy: An inborn error of lipid metabolism due to DGAT1 mutations. (Metabolic Disorders)

*2271T. Oleg Schelochkov: A Zebrafish Knockout of Argininosuccinate Lyase Separates Ureagenic and Biosynthetic Functions. (Metabolic Disorders)

2305T. Grisel J. Lopez: Prevalence and severity of non-motor manifestations associated with parkinsonism in patients with Gaucher disease and GBA1 mutation carriers. (Metabolic Disorders)

*2313T. Peter J. McGuire: Mice lacking Cox10 in T-lymphocytes recapitulate the immune phenotype of a cohort of patients with primary mitochondrial disease. (Metabolic Disorders)

2453T. Karin Weiss: Subtle Facial Dysmorphism, a Variable Phenotype and Negative 4 Gene Testing in Young Adults with Holoprosencephaly.(Clinical Genetics and Dysmorphology)

*2477T. Melissa Merideth: Gynecologic and Obstetric Issues in a Large Cohort of Patients with Hermansky-Pudlak Syndrome. (Clinical Genetics and Dysmorphology)

*2847T. Qing Zhou: HA20: A novel autoinflammatory disease caused by haploinsufficiency of A20, encoded by TNFAIP3. (Molecular Basis of Mendelian Disorders)

12:00 - 1:00 p.m.

2456T. Christopher C. Lau: Point mutation in the proline dehydrogenase gene (PRODH) plus a microdeletion in the proximal part of DiGeorge syndrome chromosomal region (DGCR) in juvenile onset epileptic encephalopathy - a case report. (Clinical Genetics and Dysmorphology) 

2682T. Settara C. Chandrasekharappa: Unusual revertant mosaicism in three siblings affected with Fanconi anemia group FA-G. (Cancer Genetics) 

2976T. May Christine Malicdan: Cell adhesion and migration defects in severe myopia associated with retinal dystrophy and cystic cerebellar dysplasia due to biallelic LAMA1 mutations. (Molecular Basis of Mendelian Disorders) 

3044T. John P. Didion: Genetic and epigenetic signatures of gene regulation specific to type 2 diabetes-relevant tissues. (Genome structure, variation and function)

Friday, Oct. 9, 2015

10:45-11:45 a.m.

727F. Amy R. Bentley: Exome sequencing identifies SLC36A4 and SLC4A8 as novel genes influencing the distribution of HDL-cholesterol in West Africans and African Americans. (Complex Traits and Polygenic Disorders)

775F. Cristina M. Justice: Targeted sequencing of familial idiopathic scoliosis regions of interest on chromosomes. (Complex Traits and Polygenic Disorders)

1147F. Katherine Schaffer: Using zebrafish to model the role of GEMIN5 in neurological disease. (Psychiatric Genetics, Neurogenetics and Neurodegeneration)

1391F. Alexander F. Wilson: The use of composite bi-allelic markers revisited: Creating highly informative multi-allelic markers from SNP and next generation sequence data. (Statistical Genetics and Genetic Epidemiology)

2427F. Yonit Addissie: Behavioral Phenotype of Muenke Syndrome. (FGFR3-Related Craniosynostosis) (Clinical Genetics and Dysporphology)

2475F. Megan S. Kane: Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation. (Clinical Genetics and Dysmorphology)

*2803F. Marjorie Lindhurst: Ubiquitous expression of the Proteus mutation Akt1 c. 49G>A, p. Glu17Lys causes embryonic lethality in mice. (Molecular Basis of Mendelian Disorders)

11:45-12:45 p.m.

624F. Heejong Sung: Association of a single nucleotide polymorphism variant in the SCUBE1 gene with Coronary Artery Calcium score in the ClinSeq Study. (Cardiovascular Genetics)

934F. Faith Pangilinan: A common polymorphism in HIBCH is a cobalamin-independent determinant of methylmalonic acid concentrations in blood. (Complex Traits and Polygenic Disorders)

1168F. Nahid Tayebi: Modeling the association between loss-of-function GBA1 mutations and synucleinopathies with in vivo mouse models. (Psychiatric Genetics, Neurogenetics and Neurdegeneration)

1352F. Alexa J M Sorant: Evaluation of stepwise and penalized regression methods in selecting a set of genetic predictors explaining quantitative trait variation. (Statistical Genetics and Genetic Epidemiology)

1944F. Tyler F. Beck: Is Sanger Sequencing Still the Gold Standard? (Clinical Genetic Testing)

2129F. Marta Biderman Waberski: Prenatal presentation of an inherited chromosome 6p22. 3 microdeletion, encompassing the JARID2 gene. (Prenatal, Perinatal and Reproductive Genetics)

2274F. Irini Manoli: 1-13C-Propionate Oxidation as a Measure of Hepatic Methylmalonyl-CoA Mutase (MUT) Function in Methylamalonic Acidemia (MMA). (Metabolic Disorders)

*2276F. Christina Lam: Clarifying the Phenotype of NGLY1 Deficiency, the First Congenital Disorder of Deglycosylation. (Metabolic Disorders)

2308F. Daniel Borger: Autopsy findings in Gaucher disease indicate variability in response to therapy. (Metabolic Disorders)

2314F. Jamie L. Fraser: Novel TATA Box Promoter Mutation in SUCLG1: Expansion of the Phenotype. (Metabolic Disorders)

*2330F. Jennifer L. Sloan: Long term follow up of 17 patients with methylmalonic academia following solid organ transplantation. (Metabolic Disorders)

2334F. Katherine Chao: Novel NPC variants causing severe Niemann Pick C deficiency. (Metabolic Disorders)

Other Sessions Involving NIH

Tuesday, Oct. 6, 2015, 5:00-6:45 p.m.

Baltimore Convention Center, Hall F, Level 1
Presidential Symposium: Genetic Epidemiology at Scale: High Throughout Genomics Linked to Large Scale HER Systems (featuring NIH Director Francis Collins)

Tuesday, Oct. 6, 2015, 1:00-2:00 p.m.

Baltimore Convention Center, Room 336, Level 3
Human Subjects 101: From the NIH Application through Peer Review and Award

Wednesday, Oct. 7, 2015, 1:30-2:30 p.m.

Hilton Baltimore Hotel, Carroll A/B, 3rd Floor

Building Human Genetic Data Portals to Test Biological Hypotheses and Validate Therapeutic Targets.  Presented by the Accelerating Medicines Partnership in Type 2 Diabetes, a Pharma/NIH Collaboration

Click here for a complete list of abstracts at the 2015 ASHG Meeting.

Click here for a complete schedule of events.

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Posted: September 30, 2015