Adding ORDR Rare Diseases Terms to MeSH Tree Structure Stephen C. Groft, Pharm. D. Director, office of Rare Diseases Research National Institutes of Health Department of Health and Human Services, USA ICORD 2009 Rome, Italy February 23-25, 2009

Scientific Disease Coding Within NIH NIH is developing the application of Knowledge Management (KM) tools for Research, Disease and Condition Coding NIH is developing the application of Knowledge Management (KM) tools for Research, Disease and Condition Coding Building on expert science knowledge of NIH to develop standard definitions of topic areas Building on expert science knowledge of NIH to develop standard definitions of topic areas Automate the disease reporting across the NIH Automate the disease reporting across the NIH Standardize the budget reporting by disease and condition areas Standardize the budget reporting by disease and condition areas Provide technological infrastructure for additional forms of portfolio analyses Provide technological infrastructure for additional forms of portfolio analyses ~350 Categories Including Orphan Drugs, AT,OI, CF,CMT ~350 Categories Including Orphan Drugs, AT,OI, CF,CMT

Expanding MeSH Tree with Rare Diseases Terms at the NLM/NIH >6500 Rare Diseases Related Terms >6500 Rare Diseases Related Terms ~ 2500 Disease Terms Present in MeSH Tree Structure as Main Headings or Entry Terms ~ 2500 Disease Terms Present in MeSH Tree Structure as Main Headings or Entry Terms Supplemental Concept Records Class III Includes Terms Intended for Adoption into MeSH 2010 Supplemental Concept Records Class III Includes Terms Intended for Adoption into MeSH 2010 Marked as In Progress>Provisional>Marked for Review>Authorized for Acceptance Marked as In Progress>Provisional>Marked for Review>Authorized for Acceptance New Terms can be Main Headings or Entry Terms Based on Frequency in Literature New Terms can be Main Headings or Entry Terms Based on Frequency in Literature

Expanding MeSH Tree with Rare Diseases Terms at the NLM/NIH Value of Expansion Value of Expansion Enhance Information Retrieval - Pub Med Articles And Others Will Have Terms Added During Indexing Enhance Information Retrieval - Pub Med Articles And Others Will Have Terms Added During Indexing Linked to International Language Equivalents Linked to International Language Equivalents Part of UMLS linked to terms in Part of UMLS linked to terms in OMIM OMIM SNOMED SNOMED HUGO HUGO Other Databases Other Databases

An Approach to Coordinated Efforts for Successful Orphan Products Development/Rare Diseases Research – Limiting the Risk Disease Specific Steering Committees INDUSTRY ACADEMIC RESEARCH MEDICAL SPECIALISTS HEALTHCARE PROVIDERS REIMBURSEM ENT HEALTHCARE SERVICES PHILANTHRO PIC FOUNDATION S RESEARCH AGENCIES REGULATORY AGENCIES FEDERAL GOVERNMEN TS Orphan Products Development Rare Diseases Research Patient Advocacy Groups

Moving Towards A Collaborative Global Approach