Adding ORDR Rare Adding ORDR Rare Diseases Terms to Diseases Terms to

MeSH Tree MeSH Tree StructureStructure

Stephen C. Groft, Pharm. D.Stephen C. Groft, Pharm. D.Director, office of Rare Diseases ResearchDirector, office of Rare Diseases Research

National Institutes of HealthNational Institutes of HealthDepartment of Health and Human Department of Health and Human

Services, USAServices, USAICORD 2009ICORD 2009Rome, ItalyRome, Italy

February 23-25, 2009February 23-25, 2009

Scientific Disease Coding Scientific Disease Coding Within NIHWithin NIH

NIH is developing the application of NIH is developing the application of Knowledge Management (KM) tools for Knowledge Management (KM) tools for Research, Disease and Condition CodingResearch, Disease and Condition Coding Building on expert science knowledge of NIH Building on expert science knowledge of NIH

to develop standard definitions of topic areasto develop standard definitions of topic areas Automate the disease reporting across the NIHAutomate the disease reporting across the NIH Standardize the budget reporting by disease Standardize the budget reporting by disease

and condition areasand condition areas Provide technological infrastructure for Provide technological infrastructure for

additional forms of portfolio analysesadditional forms of portfolio analyses ~350 Categories Including Orphan Drugs, ~350 Categories Including Orphan Drugs,

AT ,OI, CF,CMTAT ,OI, CF,CMT http://report.nih.gov/rcdc/categories/http://report.nih.gov/rcdc/categories/

Expanding MeSH Tree with Expanding MeSH Tree with Rare Diseases Terms at the Rare Diseases Terms at the

NLM/NIHNLM/NIH >6500 Rare Diseases Related Terms>6500 Rare Diseases Related Terms ~ 2500 Disease Terms Present in MeSH ~ 2500 Disease Terms Present in MeSH

Tree Structure as Main Headings or Entry Tree Structure as Main Headings or Entry TermsTerms

Supplemental Concept Records Class III Supplemental Concept Records Class III Includes Terms Intended for Adoption into Includes Terms Intended for Adoption into MeSH 2010MeSH 2010

Marked as In Progress>Provisional>Marked Marked as In Progress>Provisional>Marked for Review>Authorized for Acceptancefor Review>Authorized for Acceptance

New Terms can be Main Headings or Entry New Terms can be Main Headings or Entry Terms Based on Frequency in LiteratureTerms Based on Frequency in Literature

Expanding MeSH Tree with Expanding MeSH Tree with Rare Diseases Terms at the Rare Diseases Terms at the

NLM/NIHNLM/NIH Value of ExpansionValue of Expansion Enhance Information Retrieval - Pub Enhance Information Retrieval - Pub

Med Articles And Others Will Have Med Articles And Others Will Have Terms Added During IndexingTerms Added During Indexing

Linked to International Language Linked to International Language EquivalentsEquivalents

Part of UMLS linked to terms inPart of UMLS linked to terms in OMIMOMIM SNOMEDSNOMED HUGOHUGO Other DatabasesOther Databases

An Approach to Coordinated Efforts for An Approach to Coordinated Efforts for Successful Orphan Products Successful Orphan Products

Development/Rare Diseases Research – Development/Rare Diseases Research – Limiting the RiskLimiting the Risk

Patient Advocacy Groups

Rare Diseases Research

Orphan Products Development

FEDERAL GOVERNMENTS

REGULATORYAGENCIES

RESEARCH AGENCIES

PHILANTHROPIC FOUNDATIONS

HEALTHCARE SERVICES

REIMBURSEMENT

HEALTHCARE PROVIDERS

MEDICAL SPECIALISTS

ACADEMIC RESEARCH

INDUSTRY

Disease SpecificSteering Committees

Moving Towards A Collaborative Global Moving Towards A Collaborative Global ApproachApproach