A call for an integrated approach to improve efficiency, equity and sustainability in rare disease research in the United States

Data silos are undermining drug development and failing rare disease patients

(2021) Nathan Denton et al.   Orphanet Journal of Rare Diseases

From “Ought” to “Is”: Surfacing Values in Patient and Family Advocacy in Rare Diseases

(2021) Meghan C. Halley   AMERICAN JOURNAL OF BIOETHICS

Rare diseases 2030: how augmented AI will support diagnosis and treatment of rare diseases in the future

(2020) Martin Christian Hirsch et al.   ANNALS OF THE RHEUMATIC DISEASES

Therapies for rare diseases: therapeutic modalities, progress and challenges ahead

(2019) Erik Tambuyzer et al.   NATURE REVIEWS DRUG DISCOVERY

Disparities in Mortality of Hispanic Cystic Fibrosis Patients in the United States: A National and Regional Cohort Study

(2018) Jason Rho et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness

(2018) Zornitza Stark et al.   GENETICS IN MEDICINE

Canakinumab for the Treatment of Autoinflammatory Recurrent Fever Syndromes

(2018) Fabrizio De Benedetti et al.   NEW ENGLAND JOURNAL OF MEDICINE

Association of Racial/Ethnic Categories With the Ability of Genetic Tests to Detect a Cause of Cardiomyopathy

(2018) Latrice G. Landry et al.   JAMA Cardiology

Methodological Issues in Assessing the Economic Value of Next-Generation Sequencing Tests: Many Challenges and Not Enough Solutions

(2018) Kathryn A. Phillips et al.   VALUE IN HEALTH

Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease

(2018) Kimberly Splinter et al.   NEW ENGLAND JOURNAL OF MEDICINE

Genetic origin of α0-thalassemia (SEA deletion) in Southeast Asian populations and application to accurate prenatal diagnosis of Hb Bart’s hydrops fetalis syndrome

(2017) Wittaya Jomoui et al.   JOURNAL OF HUMAN GENETICS

Genomic diagnosis for children with intellectual disability and/or developmental delay

(2017) Kevin M. Bowling et al.   Genome Medicine

Molecular and clinical analysis of TRPC6 and AGTR1 genes in patients with pulmonary arterial hypertension

(2015) Guillermo Pousada et al.   Orphanet Journal of Rare Diseases

Which Orphans Will Find a Home? The Rule of Rescue in Resource Allocation for Rare Diseases

(2014) EMILY A. LARGENT et al.   HASTINGS CENTER REPORT