The European Human Genetics Conference (now in its 49th year) is a forum for all workers in human and medical genetics to review advances and develop research collaborations. The ESHG conference is where the latest developments in human genetics are discussed, and where professionals from all parts of human genetics meet.
See how leading sequencing institutions, such as Mount Sinai and the Rigshospitalet NGS core, use QIAGEN Bioinformatics to rapidly move from raw data to valuable insights at our Satellite Meeting:
Date: Monday, June 8
Time: 15.30 to 17.00,
Room: Alsh 1
Part I: John Martignetti, Mount Sinai
INCORPORATING INGENUITY PATHWAY ANALYSIS INTO A GYNECOLOGIC ONCOLOGY TRANSLATIONAL RESEARCH PROGRAM: BIOMARKER DISCOVERY AND MECHANISM OF ACTION STUDIES.
Integration and use of Qiagen’s web-based intuitive IPA software in a translational ovarian cancer research group will be highlighted. Specifically, the use of IPA to help analyze genomic datasets from two distinct but overlapping projects, biomarker discovery for drug response and mechanism of action studies for a novel class of chemotherapeutic agents.
Part II: Agnieszka Bierzynska, University of Bristol
EXOME SEQUENCING REVEALS GENETIC HETEROGENEITY OF NEPHROTIC SYNDROME.
Steroid Resistant Nephrotic Syndrome (SRNS) is a heterogeneous kidney disease with over 40 genes currently linked to this condition. The aim of this study was to discover the extent of genetic variation in the known nephrotic genes in the UK Pediatric SRNS population using whole exome sequencing. 25% of the sequenced patients had either a previously described mutation or a variant likely to be disease causing. Mutations and potentially pathogenic variants were identified in genes that would not routinely be screened under current testing practice.
Part III: Lars Jonson, Ph.D., Center for Genomic Medicine
GENOMIC PROFILING OF CANCER PATIENTS IN PHASE 1 TRIAL – PRECISION MEDICINE.
How to identify potential targets for cancer treatment using next generation sequencing and arrays. Based on the findings, the doctors at the Phase 1 unit can offer the patients a drug (which is not tested through phase 2 and 3 yet), and to follow the outcome of the treatment based on free circulating DNA.
We will also be at the conference in booth #244. Stop by and ask for a demo.
You can get more information about the event at ESHG website.