Research graph
References from Bridging epidemiological gaps in rare diseases: Overcoming systemic and socio-economic challenges through integrated solutions. Local targets link to admitted publications; unresolved targets remain external evidence.
Challenges in the clinical management of rare diseases and centre-based multidisciplinary approach to creating solutions
10.1007/s00431-025-06101-z · 2025 · External reference
Advancing understanding of inequities in rare disease genomics
10.1016/j.clinthera.2023.06.010 · 2023 · External reference
Rare diseases: The paradox of an emerging challenge
10.21037/atm.2018.09.04 · 2018 · External reference
Rare disease patients in India are rarely involved in international orphan drug trials
10.1371/journal.pgph.0000890 · 2022 · External reference
Burden of rare genetic disorders in India: Twenty-two years’ experience of a tertiary centre
10.1186/s13023-024-03300-z · 2024 · External reference
Integrating rare disease management in public health programs in India: Exploring the potential of national health mission
10.1186/s13023-022-02194-z · 2022 · External reference
Current status of research in rare genetic disorders and drug discovery in India
10.1007/s12038-024-00434-x · 2024 · External reference
Surfacing undiagnosed disease: Consideration, counting and coding
10.3389/fped.2023.1283880 · 2023 · External reference
News in brief
10.1007/s13312-017-1101-7 · 2017 · External reference
Patient-driven initiatives for prioritizing drug discovery for rare diseases
10.4103/ijmr.ijmr_499_19 · 2019 · External reference
Toward an ethical future for orphan drugs: Balancing access, affordability, and innovation
10.1080/13696998.2025.2577514 · 2025 · External reference
An update on management of rare diseases in India
10.18203/2394-6040.ijcmph20241214 · 2024 · External reference
Equity for the rare: A review on India’s rare disease challenges and policy responses
10.18203/2394-6040.ijcmph20254074 · 2025 · External reference
Baseline knowledge of rare diseases in India—A survey
10.23937/2643-4571/1710008 · 2019 · External reference
Understanding rare genetic diseases in low resource regions like Jammu and Kashmir–India
10.3389/fgene.2020.00415 · 2020 · External reference
Organization for rare diseases India (ORDI)–Addressing the challenges and opportunities for the Indian rare diseases’ community
10.1017/s0016672314000111 · 2014 · External reference
Stigma associated with genetic testing for rare diseases—causes and recommendations
10.3389/fgene.2024.1335768 · 2024 · External reference
Cluster analysis and visualisation of electronic health records data to identify undiagnosed patients with rare genetic diseases
10.1038/s41598-024-55424-8 · 2024 · External reference
Scope of patient registries for rare diseases in India
2016 · External reference
National policy for rare diseases, 2021 – A critical perspective
10.47203/ijch.2022.v34i02.034 · 2022 · External reference
A comprehensive gap analysis of risk factors for transfusion dependent thalassemia in siblings
10.1007/s12288-024-01848-1 · 2025 · External reference
The Orphan Drug Act at 35: Observations and an outlook for the twenty-first century
10.1086/699934 · 2019 · External reference
Root cause analysis reports help identify common factors in delayed diagnosis and treatment of outpatients
10.1377/hlthaff.2013.0130 · 2013 · External reference
The roles of patents and research and development incentives in biopharmaceutical innovation
10.1377/hlthaff.2014.1047 · 2015 · External reference
Are the European reference networks for rare diseases ready to embrace machine learning? A mixed-methods study
10.1186/s13023-024-03047-7 · 2024 · External reference
Time to diagnosis and determinants of diagnostic delays of people living with a rare disease: Results of a rare barometer retrospective patient survey
10.1038/s41431-024-01604-z · 2024 · External reference
Socio-economic burden of rare diseases: A systematic review of cost of illness evidence
10.1016/j.healthpol.2014.12.016 · 2015 · External reference
Comparative policy analysis of national rare disease funding policies in Australia, Singapore, South Korea, the United Kingdom and the United States: A scoping review
10.1186/s13561-024-00519-1 · 2024 · External reference
State of rare disease management in Southeast Asia
10.1186/s13023-016-0460-9 · 2016 · External reference
Evaluation of the national policy for rare diseases (NPRD) 2021 and Ayushman Bharat in addressing financial barriers, infrastructure gaps, and healthcare accessibility challenges
2024 · External reference
The Ayushman Bharat digital mission (ABDM): Making of India’s digital health story
10.1007/s40012-023-00375-0 · 2023 · External reference
Expansion of India’s national child healthcare programme, Rashtriya Bal Swasthya Karyakram (RBSK), for rare disease management: A health policy perspective
10.1186/s13023-023-02761-y · 2023 · External reference
Genome-based diagnosis of genetic disease
2010 · External reference
Toward clinical implementation of next-generation sequencing-based genetic testing in rare diseases: Where are we?
10.1016/j.tig.2019.08.006 · 2019 · External reference
Perspective - the role of peripheral outreach programs for genetic disorders for optimizing healthcare
10.1007/s12098-026-06005-2 · 2026 · External reference
Outreach of the programmatic components of national health mission in India: An inter‐ and intra‐state analysis using nationally representative data
10.1002/pa.2883 · 2023 · External reference
What is the awareness of rare diseases among medical students? A survey in Bulgaria
10.1186/s13023-023-02820-4 · 2023 · External reference
Redefining the approach to rare diseases: the experience of “Casa dos Raros” in Brazil
10.1007/s12687-025-00771-w · 2025 · External reference
National rare diseases registry system (NRDRS): China’s first nation-wide rare diseases demographic analyses
10.1186/s13023-021-02130-7 · 2021 · External reference
Dispatches from biotech beginning BeginNGS: Rapid newborn genome sequencing to end the diagnostic and therapeutic odyssey
10.1002/ajmg.c.32005 · 2022 · External reference
Integrative research and innovation strategy for rare diseases Insights from the 5-year European joint programme on rare diseases, including analysis to inform recommendations for future actions
10.1186/s12961-025-01389-7 · 2025 · External reference
Mapping genetic diversity with the GenomeIndia project
10.1038/s41588-025-02153-x · 2025 · External reference
Identification of rare disease genes as drivers of common diseases through tissue-specific gene regulatory networks
10.1038/s41598-024-80670-1 · 2024 · External reference
A genomic strategy for precision medicine in rare diseases: Integrating customized algorithms into clinical practice
10.1186/s12967-025-06069-2 · 2025 · External reference
Paving the way for Brazil’s first national rare diseases registry: The RARAS data governance model
10.1186/s44247-025-00200-5 · 2025 · External reference
Unlocking precision medicine: Clinical applications of integrating health records, genetics, and immunology through artificial intelligence
10.1186/s12929-024-01110-w · 2025 · External reference
Special FDA designations for drug development: Orphan, fast track, accelerated approval, priority review, and breakthrough therapy
10.1007/s10198-023-01639-x · 2024 · External reference
Building cross-border collaborations to increase diversity and accelerate rare disease drug development – meeting report from the inaugural IndoUSrare annual conference 2021
2022 · External reference
Global health for rare diseases through primary care
10.1016/s2214-109x(24)00134-7 · 2024 · External reference
Dispatches from biotech beginning BeginNGS: Rapid newborn genome sequencing to end the diagnostic and therapeutic odyssey
10.1002/ajmg.c.32005 · ExternalCitation · doi-reference
Outreach of the programmatic components of national health mission in India: An inter‐ and intra‐state analysis using nationally representative data
10.1002/pa.2883 · ExternalCitation · doi-reference
Challenges in the clinical management of rare diseases and centre-based multidisciplinary approach to creating solutions
10.1007/s00431-025-06101-z · ExternalCitation · doi-reference
Special FDA designations for drug development: Orphan, fast track, accelerated approval, priority review, and breakthrough therapy
10.1007/s10198-023-01639-x · ExternalCitation · doi-reference
Current status of research in rare genetic disorders and drug discovery in India
10.1007/s12038-024-00434-x · ExternalCitation · doi-reference
Perspective - the role of peripheral outreach programs for genetic disorders for optimizing healthcare
10.1007/s12098-026-06005-2 · ExternalCitation · doi-reference
A comprehensive gap analysis of risk factors for transfusion dependent thalassemia in siblings
10.1007/s12288-024-01848-1 · ExternalCitation · doi-reference
Redefining the approach to rare diseases: the experience of “Casa dos Raros” in Brazil
10.1007/s12687-025-00771-w · ExternalCitation · doi-reference
News in brief
10.1007/s13312-017-1101-7 · ExternalCitation · doi-reference
The Ayushman Bharat digital mission (ABDM): Making of India’s digital health story
10.1007/s40012-023-00375-0 · ExternalCitation · doi-reference
Advancing understanding of inequities in rare disease genomics
10.1016/j.clinthera.2023.06.010 · ExternalCitation · doi-reference
Socio-economic burden of rare diseases: A systematic review of cost of illness evidence
10.1016/j.healthpol.2014.12.016 · ExternalCitation · doi-reference
Toward clinical implementation of next-generation sequencing-based genetic testing in rare diseases: Where are we?
10.1016/j.tig.2019.08.006 · ExternalCitation · doi-reference
Global health for rare diseases through primary care
10.1016/s2214-109x(24)00134-7 · ExternalCitation · doi-reference
Organization for rare diseases India (ORDI)–Addressing the challenges and opportunities for the Indian rare diseases’ community
10.1017/s0016672314000111 · ExternalCitation · doi-reference
Time to diagnosis and determinants of diagnostic delays of people living with a rare disease: Results of a rare barometer retrospective patient survey
10.1038/s41431-024-01604-z · ExternalCitation · doi-reference
Mapping genetic diversity with the GenomeIndia project
10.1038/s41588-025-02153-x · ExternalCitation · doi-reference
Cluster analysis and visualisation of electronic health records data to identify undiagnosed patients with rare genetic diseases
10.1038/s41598-024-55424-8 · ExternalCitation · doi-reference
Identification of rare disease genes as drivers of common diseases through tissue-specific gene regulatory networks
10.1038/s41598-024-80670-1 · ExternalCitation · doi-reference
Toward an ethical future for orphan drugs: Balancing access, affordability, and innovation
10.1080/13696998.2025.2577514 · ExternalCitation · doi-reference
The Orphan Drug Act at 35: Observations and an outlook for the twenty-first century
10.1086/699934 · ExternalCitation · doi-reference
Unlocking precision medicine: Clinical applications of integrating health records, genetics, and immunology through artificial intelligence
10.1186/s12929-024-01110-w · ExternalCitation · doi-reference
Integrative research and innovation strategy for rare diseases Insights from the 5-year European joint programme on rare diseases, including analysis to inform recommendations for future actions
10.1186/s12961-025-01389-7 · ExternalCitation · doi-reference
A genomic strategy for precision medicine in rare diseases: Integrating customized algorithms into clinical practice
10.1186/s12967-025-06069-2 · ExternalCitation · doi-reference
State of rare disease management in Southeast Asia
10.1186/s13023-016-0460-9 · ExternalCitation · doi-reference
National rare diseases registry system (NRDRS): China’s first nation-wide rare diseases demographic analyses
10.1186/s13023-021-02130-7 · ExternalCitation · doi-reference
Integrating rare disease management in public health programs in India: Exploring the potential of national health mission
10.1186/s13023-022-02194-z · ExternalCitation · doi-reference
Expansion of India’s national child healthcare programme, Rashtriya Bal Swasthya Karyakram (RBSK), for rare disease management: A health policy perspective
10.1186/s13023-023-02761-y · ExternalCitation · doi-reference
What is the awareness of rare diseases among medical students? A survey in Bulgaria
10.1186/s13023-023-02820-4 · ExternalCitation · doi-reference
Are the European reference networks for rare diseases ready to embrace machine learning? A mixed-methods study
10.1186/s13023-024-03047-7 · ExternalCitation · doi-reference
Burden of rare genetic disorders in India: Twenty-two years’ experience of a tertiary centre
10.1186/s13023-024-03300-z · ExternalCitation · doi-reference
Comparative policy analysis of national rare disease funding policies in Australia, Singapore, South Korea, the United Kingdom and the United States: A scoping review
10.1186/s13561-024-00519-1 · ExternalCitation · doi-reference
Paving the way for Brazil’s first national rare diseases registry: The RARAS data governance model
10.1186/s44247-025-00200-5 · ExternalCitation · doi-reference
Rare disease patients in India are rarely involved in international orphan drug trials
10.1371/journal.pgph.0000890 · ExternalCitation · doi-reference
Root cause analysis reports help identify common factors in delayed diagnosis and treatment of outpatients
10.1377/hlthaff.2013.0130 · ExternalCitation · doi-reference
The roles of patents and research and development incentives in biopharmaceutical innovation
10.1377/hlthaff.2014.1047 · ExternalCitation · doi-reference
An update on management of rare diseases in India
10.18203/2394-6040.ijcmph20241214 · ExternalCitation · doi-reference
Equity for the rare: A review on India’s rare disease challenges and policy responses
10.18203/2394-6040.ijcmph20254074 · ExternalCitation · doi-reference
Rare diseases: The paradox of an emerging challenge
10.21037/atm.2018.09.04 · ExternalCitation · doi-reference
Baseline knowledge of rare diseases in India—A survey
10.23937/2643-4571/1710008 · ExternalCitation · doi-reference
Understanding rare genetic diseases in low resource regions like Jammu and Kashmir–India
10.3389/fgene.2020.00415 · ExternalCitation · doi-reference
Stigma associated with genetic testing for rare diseases—causes and recommendations
10.3389/fgene.2024.1335768 · ExternalCitation · doi-reference
Surfacing undiagnosed disease: Consideration, counting and coding
10.3389/fped.2023.1283880 · ExternalCitation · doi-reference
Patient-driven initiatives for prioritizing drug discovery for rare diseases
10.4103/ijmr.ijmr_499_19 · ExternalCitation · doi-reference
National policy for rare diseases, 2021 – A critical perspective
10.47203/ijch.2022.v34i02.034 · ExternalCitation · doi-reference
