Rare Disease Articles
Articles about Rare Diseases | NIH MedlinePlus Magazine
Rare Diseases · Featured Articles : Rare Diseases · Navigating a rare disease? · More than two decades of NIH research gives answers on a rare disease affecting ...
Orphanet Journal of Rare Diseases: Home page
Aims and scope. Orphanet Journal of Rare Diseases is an open access, peer-reviewed journal that encompasses all aspects of rare diseases and orphan drugs. The ...
The landscape for rare diseases in 2024 - The Lancet Global Health
Overall, the 2024 Rare Disease Day is marked by both advances and persistent challenges. Urgent attention is needed to prioritise early and precise diagnosis as ...
Articles | Orphanet Journal of Rare Diseases - BioMed Central
A novel approach to detecting microduplication in split hand/foot malformation type 3 at the single-cell level: SHFM as a case study. Split hand/foot ...
Rare diseases: the paradox of an emerging challenge - PMC
Rare (often called “orphan”) diseases are conventionally defined as those affecting a very low number of individuals, but which can be associated with ...
Rare Disease Articles (Symptoms, Diagnostic Workup, Treatment)
Rare Diseases · Achondrogenesis · Aicardi Syndrome · Asphyxiating Thoracic Dystrophy (Jeune Syndrome) · Bloom Syndrome (Congenital Telangiectatic Erythema) ...
Research on rare diseases: ten years of progress and challenges at ...
Although individually rare, the >6,000 known rare diseases (RDs) affect about 300 million people worldwide. The diversity, complexity and multiplicity of ...
Journal of Rare Diseases is an open access, peer reviewed journal with clinical and basic research interests in rare and genetic diseases. An ...
Rare Diseases News, Articles | The Scientist Magazine®
In just 16 months, physicians went from identifying a novel rare disease in three-year-old Marley to successfully treating her with a drug previously used to ...
Top 5 Most-Read Rare Disease Articles of 2023
The most-read rare disease articles include topics on increasing research and awareness on genetic and nongenetic rare diseases.
Rare diseases, common challenges | Nature Genetics
The genetics community has a particularly important part to play in accelerating rare disease research and contributing to improving diagnosis and treatment.
Rare disease emerging as a global public health priority - Frontiers
The genomics revolution over the past three decades has led to great strides in rare disease (RD) research, which presents a major shift in global policy ...
Future Rare Diseases | Taylor & Francis Online
A fully open-access, peer-reviewed journal providing a resource for all those working in the field, including scientists, clinicians, policy makers and ...
Articles | Journal of Rare Diseases
Journal of Rare Diseases is an open access, peer reviewed journal with clinical and basic research interests in rare and genetic diseases. An ...
Rare Diseases | Taylor & Francis Online
Rare Diseases publishes several types of articles including original research manuscripts, reviews, addenda, highlights from foundations devoted to rare ...
Estimating cumulative point prevalence of rare diseases - Nature
Rare diseases, an emerging global public health priority, require an evidence-based estimate of the global point prevalence to inform public ...
National Organization for Rare Disorders | NORD
NORD is dedicated to supporting education, elevating care, advancing research, and driving policy for rare diseases.
Global health for rare diseases through primary care - The Lancet
People with rare diseases often face unmet health needs, including access to screening, diagnosis, therapy, and comprehensive health care. These ...
Communication Needs for Individuals With Rare Diseases Within ...
Communication around rare disease is a challenge for researchers and healthcare professionals. Progress in the understanding of inherited rare diseases is often ...
Rare Disease News - National Organization for Rare Disorders
After serving as a volunteer, Pam joined NORD in 2012 as our first Chief Operating Officer and most recently served as Executive Vice President. Read article ...