Friends of rare disease research

Early Onset Genetic Conditions With Near Complete Penetrance

Genomic Uniformed-Screening Against Rare Disease In All Newborns

100000 | Columbia University

Hematologic Disorder, Bleeding Disorder, Connective Tissue Disorder, Hemophilia, Thrombosis, Von Willebrand Diseases, Thrombophilia, Rare Bleeding Disorder, Platelet Disorder, Factor IX Deficiency, Factor VIII Deficiency, Thalassemia, Sickle Cell Disease

ATHN Transcends: A Natural History Study of Non-Neoplastic Hematologic Disorder...

3000 | American Thrombosis and Hemostasis Network

Advanced Cancer, Rare Diseases

Umbrella Study for Single Patient Treatments in Oncology

400 | University Health Network, Toronto

Rare Diseases

Swiss Rare Disease Registry (SRDR)

500000 | University of Bern

Bardet-Biedl Syndrome, POMC Deficiency Obesity, PCSK1 Deficiency Obesity, LEPR Deficiency Obesity

Setmelanotide in Pediatric Participants With Rare Genetic Diseases of Obesity

12 | Rhythm Pharmaceuticals, Inc.

Nosocomial Infection

Healthcare-Associated Infections in Ukraine and the Activity of 4-Thiazolidinon...

250 | Danylo Halytsky Lviv National Medical University

Sleep Disorders, Circadian Rhythm, Cognitive Dysfunction

Feasibility Study on the Use of Redormin®500 on Day-time Cognition

40 | Max Zeller Soehne AG

Primary Hyperoxaluria, Cystinuria, Adenine Phosphoribosyl Transferase Deficiency, Dent Disease

Health-related Quality of Life in Rare Kidney Stone

365 | NYU Langone Health