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The latest research articles and clinical trials for 346 rare diseases. Free, searchable, and explained in plain language for patients and families worldwide.
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View allGiant Cell Tumour of Bone
GCTB 路 ICD M9250Also known as: Giant Cell Tumor of Bone, Osteoclastoma
Giant Cell Tumour of Bone is a rare bone tumour that most often affects young adults. It is usually non-cancerous but ca...
Latest: Role of neoadjuvant denosumab in pathological fracture associated gian...
Systemic Lupus Erythematosus
SLE 路 ICD M32Also known as: Lupus, SLE, Systemic Lupus
Systemic lupus erythematosus (lupus) is a chronic autoimmune disease in which the immune system attacks the body's own t...
Latest: In vivo generation of CD19 CAR T cells for the treatment of mouse syst...
Sickle Cell Disease
SCD 路 ICD D57Also known as: Sickle Cell Anaemia, HbSS disease
Sickle Cell Disease is an inherited blood disorder in which red blood cells become rigid and sickle-shaped, blocking blo...
Latest: Perinatal Outcome of Sickle-cell Disease in Pregnancy: A Retrospective...
Cystic Fibrosis
CF 路 ICD E84Also known as: Mucoviscidosis, CF
Cystic fibrosis is a genetic condition that causes thick, sticky mucus to build up in the lungs and digestive system. It...
Latest: The impact of modulator therapy on the
Spinal Muscular Atrophy
SMA 路 ICD G12.0Also known as: Werdnig-Hoffmann Disease, Kugelberg-Welander Disease, SMA
Spinal muscular atrophy is a genetic condition that causes muscle weakness and wasting. It affects a protein needed for ...
Latest: Neurofilaments in cerebrospinal fluid and/or serum as a possible bioma...
Motor Neuron Disease
MND 路 ICD G12.2Also known as: ALS, Amyotrophic Lateral Sclerosis, Lou Gehrig's Disease
Motor neuron disease (MND), also known as ALS, is a progressive neurodegenerative condition that destroys the nerve cell...
Latest: An integrative transcriptomic atlas of ALS and aging skeletal muscle d...
Huntington's Disease
HD 路 ICD G10Also known as: Huntington's Chorea, Huntington Disease, HD
Huntington's disease is a genetic condition that causes the gradual breakdown of nerve cells in the brain. It affects mo...
Latest: Huntington's disease clinical trials update: August 2026.
Duchenne Muscular Dystrophy
DMD 路 ICD G71.0Also known as: Duchenne's Disease, DMD, Dystrophinopathy
Duchenne muscular dystrophy is a genetic condition causing progressive muscle weakness, mainly affecting boys. It is cau...
Latest: Nonclinical Toxicology and Immunogenicity Strategy for AAV-Based Gene ...
Amyloidosis
ATTR 路 ICD E85Also known as: Systemic Amyloidosis, AL Amyloidosis, ATTR Amyloidosis
Amyloidosis is a group of conditions where abnormal proteins called amyloid fibres build up in organs, causing progressi...
Latest: Characterization of Amyloidosis in Clinical Practice Using an Extended...
Sarcoidosis
路 ICD D86.9Also known as: Sarcoid, Pulmonary Sarcoidosis
Sarcoidosis is a chronic inflammatory disease characterised by the formation of granulomas that can affect any organ but...
Latest: Delayed Eyelid Masses: When to Suspect Infiltrative Mimickers
Haemophilia
路 ICD D66Also known as: Hemophilia, Haemophilia A, Haemophilia B
Haemophilia is a rare inherited bleeding disorder caused by deficiency of clotting factor VIII (Haemophilia A) or factor...
Latest: Cases of High-Titer Inhibitor Formation After AAV Gene Therapy for Hem...
Scleroderma
SSc 路 ICD M34.9Also known as: Systemic Sclerosis, Systemic Scleroderma, Limited Cutaneous Systemic Sclerosis
Scleroderma (systemic sclerosis) is a rare autoimmune connective tissue disease characterised by fibrosis of the skin an...
Latest: Clinical application of genomic advances in systemic sclerosis.
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