William A Gahl
Biographic Data
| ID | 8009957 |
|---|---|
| NAME | William A Gahl |
| GIVEN NAMES | William A |
| FAMILY NAME | Gahl |
| SIGNATURE | GAHL W A |
| AFFILIATIONS | National Institutes of Health |
| ORCID | 0000-0002-2494-6752 |
| VERIFIED | Yes |
| TOTAL WORKS | 4 |
| TOTAL CITATIONS | 0 |
| AUTHOR COUNT | 4 |
| EDITOR COUNT | 0 |
| FIRST PUBLICATION YEAR | 2015 |
| LATEST PUBLICATION YEAR | 2025 |
| H-INDEX | 0 |
A global survey about undiagnosed rare diseases
Background: Undiagnosed rare diseases (URDs) are a complex and multifaceted challenge, especially in low-and medium-income countries. They affect individuals with unique clinical features and lack a clear diagnostic label. Although the Undiagnosed Diseases Network International (UDNI) definition of URDs is not universally accepted, it is widely recognized. Methods: We surveyed UDNI members and participants from other countries to explore the chal…
Undiagnosed diseases
Introduction: Rare diseases (RD) are a health priority worldwide, overall affecting hundreds of millions of people globally. Early and accurate diagnosis is essential to support clinical care but remains challenging in many countries, especially the low- and medium-income ones. Hence, undiagnosed RD (URD) account for a significant portion of the overall RD burden. Methods: In October 2020, the Developing Nations Working Group of the Undiagnosed D…
Unmet needs in countries participating in the undiagnosed diseases network international
Background Patients, families, the healthcare system, and society as a whole are all significantly impacted by rare diseases (RDs). According to various classifications, there are currently up to 9,000 different rare diseases that have been recognized, and new diseases are discovered every month. Although very few people are affected by each uncommon disease individually, millions of people are thought to be impacted globally when all these condi…
The Undiagnosed Diseases Program Integrated Collaboration System (Udpics)
The Undiagnosed Diseases Program (UDP) was started in 2008 with the goals of making diagnoses and facilitating related translational research. The individuals and families seen by the UDP are often unique and medically complex. Approximately 40% of UDP cases are pediatric. The Undiagnosed Diseases Program Integrated Collaboration System (UDPICS) was designed to create a collaborative workspace for researchers, clinicians and families. We describe…
No prominent works on this page.
The Undiagnosed Diseases Program Integrated Collaboration System (Udpics)
The Undiagnosed Diseases Program (UDP) was started in 2008 with the goals of making diagnoses and facilitating related translational research. The individuals and families seen by the UDP are often unique and medically complex. Approximately 40% of UDP cases are pediatric. The Undiagnosed Diseases Program Integrated Collaboration System (UDPICS) was designed to create a collaborative workspace for researchers, clinicians and families. We describe…
Undiagnosed diseases
Introduction: Rare diseases (RD) are a health priority worldwide, overall affecting hundreds of millions of people globally. Early and accurate diagnosis is essential to support clinical care but remains challenging in many countries, especially the low- and medium-income ones. Hence, undiagnosed RD (URD) account for a significant portion of the overall RD burden. Methods: In October 2020, the Developing Nations Working Group of the Undiagnosed D…
Unmet needs in countries participating in the undiagnosed diseases network international
Background Patients, families, the healthcare system, and society as a whole are all significantly impacted by rare diseases (RDs). According to various classifications, there are currently up to 9,000 different rare diseases that have been recognized, and new diseases are discovered every month. Although very few people are affected by each uncommon disease individually, millions of people are thought to be impacted globally when all these condi…
A global survey about undiagnosed rare diseases
Background: Undiagnosed rare diseases (URDs) are a complex and multifaceted challenge, especially in low-and medium-income countries. They affect individuals with unique clinical features and lack a clear diagnostic label. Although the Undiagnosed Diseases Network International (UDNI) definition of URDs is not universally accepted, it is widely recognized. Methods: We surveyed UDNI members and participants from other countries to explore the chal…
Genomics and Rare Diseases (4 works) · Medicine (4 works) · Computer Science (2 works) · Developing country (2 works) · Economic growth (2 works) · Global Public Health Policies and Epidemiology (2 works) · Health care (2 works) · Health Systems, Economic Evaluations, Quality of Life (2 works) · Autism Spectrum Disorder Research (1 works) · Biomedical Text Mining and Ontologies (1 works)