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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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Giant Cell Tumour of Bone

GCTB 路 ICD M9250

Also 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...

426 articles14 trials馃嚘馃嚭 2 AU

Latest: Role of neoadjuvant denosumab in pathological fracture associated gian...

Systemic Lupus Erythematosus

SLE 路 ICD M32

Also 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...

1,853 articles850 trials馃嚘馃嚭 54 AU

Latest: In vivo generation of CD19 CAR T cells for the treatment of mouse syst...

Sickle Cell Disease

SCD 路 ICD D57

Also 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...

1,695 articles778 trials馃嚘馃嚭 1 AU

Latest: Perinatal Outcome of Sickle-cell Disease in Pregnancy: A Retrospective...

Cystic Fibrosis

CF 路 ICD E84

Also 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...

1,664 articles1048 trials馃嚘馃嚭 94 AU

Latest: The impact of modulator therapy on the

Spinal Muscular Atrophy

SMA 路 ICD G12.0

Also 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 ...

1,573 articles171 trials馃嚘馃嚭 13 AU

Latest: Neurofilaments in cerebrospinal fluid and/or serum as a possible bioma...

Motor Neuron Disease

MND 路 ICD G12.2

Also 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...

1,407 articles706 trials馃嚘馃嚭 47 AU

Latest: An integrative transcriptomic atlas of ALS and aging skeletal muscle d...

Huntington's Disease

HD 路 ICD G10

Also 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...

1,398 articles191 trials馃嚘馃嚭 25 AU

Latest: Huntington's disease clinical trials update: August 2026.

Duchenne Muscular Dystrophy

DMD 路 ICD G71.0

Also known as: Duchenne's Disease, DMD, Dystrophinopathy

Duchenne muscular dystrophy is a genetic condition causing progressive muscle weakness, mainly affecting boys. It is cau...

1,326 articles305 trials馃嚘馃嚭 33 AU

Latest: Nonclinical Toxicology and Immunogenicity Strategy for AAV-Based Gene ...

Amyloidosis

ATTR 路 ICD E85

Also 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...

1,302 articles363 trials馃嚘馃嚭 26 AU

Latest: Characterization of Amyloidosis in Clinical Practice Using an Extended...

Sarcoidosis

路 ICD D86.9

Also known as: Sarcoid, Pulmonary Sarcoidosis

Sarcoidosis is a chronic inflammatory disease characterised by the formation of granulomas that can affect any organ but...

1,184 articles177 trials馃嚘馃嚭 1 AU

Latest: Delayed Eyelid Masses: When to Suspect Infiltrative Mimickers

Haemophilia

路 ICD D66

Also 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...

1,181 articles574 trials馃嚘馃嚭 63 AU

Latest: Cases of High-Titer Inhibitor Formation After AAV Gene Therapy for Hem...

Scleroderma

SSc 路 ICD M34.9

Also 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...

1,156 articles543 trials馃嚘馃嚭 29 AU

Latest: Clinical application of genomic advances in systemic sclerosis.

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