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Save the Date: Symposium on Linking Disease Model Phenotypes to Human Conditions

Monarch is co-hosting a NIH Symposium titled “Linking Disease Model Phenotypes to Human Conditions” on September 10-11, 2015 at the Fishers Lane Auditorium, NIH, Rockville, MD. 

The purpose of the meeting is to convene a colloquium on the current status of Phenomics and its role in closing the gap that exists between biomedical research and clinical medical practice. The wealth of whole organism, cellular, and molecular data generated in the research laboratory must be translated into clinically relevant knowledge that enables the physician to make the best possible treatment decisions. Phenomics is gaining momentum due to the availability of the complete genomes for many organisms as well as higher throughput methods to genetically modify model organism genomes and observe and record phenotypes. Disease models comprise some of the most important tools of biomedical research. The efficacy of the use of disease models is based upon the principles of evolutionary conservation between species, including conservation of pathogenic disease mechanisms. The lack of alignment of phenotypes between model species and humans has been a historic impediment to understanding disease processes. Further progress depends upon integration of clinical, biological and genomic data and development of the tools for identification and analysis of specific and amendable disease-causing molecular phenotypes of various diseases.

Session Topics: 
  • Current status of the human clinical phenotype ontology and terminology, and associated data annotation and use
  • Cross-species phenotype analysis and ontology
  • Large scale high throughput analysis of disease model phenotyping data and annotation of gene function
  • Linking disease-relevant phenotypes with physiologically relevant molecular pathways and networks 
  • Clinical and experimental biology data integration, and the positioning of molecular phenotypes in the emerging field of precision medicine 
  • Resources for submission, representation, analysis, and sharing of phenotypic and genomic information, development of resource identification and tracking to improve reproducibility and the tracking of resource utilization and trends

Organizing Committee: Oleg Mirochnitchenko (ORIP/NIH, MD), Harold Watson (ORIP/NIH, MD), Melissa Haendel (Oregon Health & Science University, OR), Olga Troyanskaya (Princeton University, NJ), Olivier Bodenreider  (NIH Library, MD), Yves Lussier (University of Arizona, AZ), Phil Bourne  (DS/NIH, MD), Janan Eppig (The Jackson Laboratory, ME), Mary Mullins (University of Pennsylvania, PA).

Symposium program and registration to attend this event at:

Please, register early, space is limited!

For more information on meeting logistics and registration, contact: Mark A. Dennis at,

P: (301) 670-4990, ext. 237
F: (301) 670-3815

For programmatic questions contact Oleg Mirochnitchenko at,
P: (301) 435-0748

Confirmed speakers include: 
Peter N. Robinson (Max Planck Institute for Molecular Genetics, Germany)
Carol M. Hamilton (PhenX, NC), Rachel Richesson (Duke University, NC)
Rex L. Chisholm (Northwestern University, IL)
Melissa Haendel (Oregon Health and Science University, OR)
Damian Smedley (Wellcome Trust Sanger Institute, UK)
Chris Mungall (Lawrence Berkeley Laboratory, CA)
Caleb Webber (Oxford University, UK)
Janan Eppig (The Jackson Laboratory, ME)
Elissa Chessler (The Jackson Laboratory, ME)
Derek Stemple (Welcome Trust Sanger Institute, UK)
Ross Cagan (The Mount Sinai Hospital, NY)
Olga Troyanskaya (Princeton University, NJ)
Kara Dolinski (Princeton University, NJ) 
John Quackenbush (Dana-Farber Cancer Institute, MA)
Jason Moore (Dartmouth College, NH)
Yves Lussier (Univ. of Arizona, AZ)
Razelle Kurzrock (Univertsity of California San Diego, CA)
Gail Herman (Nationwide Children's Hospital in Columbus, OH)
Calumn MacRae (Harvard Medical School and Brigham and Women's Hospital, MA)
Maryann Martone (University of California San Diego, CA)
Nicole Washington (Lawrence Berkeley National Laboratory, CA)
Paul Thomas (University of Southern California, CA)
Mary Mullins (University of Pennsylvania, PA)
Olivier Bodenreider (NIH Library, Bethesda, MD)
Phil Bourne (NIH, MD).  

Individuals with disabilities who need Sign Language Interpreters and/or reasonable accommodation to participate in this event should contact or the Federal Relay (1-800-877-8339).

 This symposium is sponsored by the Office of Research Infrastructure Programs, DPCPSI/OD/NIH.

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