Rare disease research summaries

All disease reports

• Alkaptonuria Alkaptonuria (AKU) is a rare inherited metabolic disorder caused by a deficiency of the enzyme homogentisate 1,2-dioxygenase (HGD), leading to the accumulation of homogentisic acid (HGA) and resulting in ochronosis—a progressive darkening …
• Alström Syndrome Alström Syndrome is a rare, autosomal recessive multisystem disorder caused by mutations in the ALMS1 gene. Since its genetic basis was elucidated, research interest has gradually increased—though, as of 2025 …
• Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disorder primarily affecting motor neurons in the brain and spinal cord …
• Ataxia-Telangiectasia Ataxia-Telangiectasia (A-T) is a rare, inherited disorder characterized by progressive neurodegeneration, immunodeficiency, and increased cancer risk …
• Batten Disease Batten Disease (neuronal ceroid lipofuscinoses, NCLs) is a group of rare, fatal pediatric neurodegenerative disorders with complex genetic origins …
• Canavan Disease Canavan Disease is a rare, fatal neurodegenerative leukodystrophy caused by mutations in the ASPA gene, leading to a deficiency of the enzyme aspartoacylase …
• Cockayne Syndrome Cockayne Syndrome (CS) is a rare, genetic, and currently incurable disease caused by mutations in DNA repair genes (ERCC6/CSB or ERCC8/CSA) …
• Cystic Fibrosis Cystic Fibrosis (CF) is a hereditary disorder caused by mutations in the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene …
• Duchenne Muscular Dystrophy Duchenne Muscular Dystrophy (DMD) is a severe X-linked genetic disorder caused by mutations in the dystrophin gene, leading to progressive muscle degeneration …
• Fabry Disease Fabry Disease (FD) is a rare, X-linked lysosomal storage disorder caused by deficient or faulty α-galactosidase A (GLA) enzyme activity, leading to accumulation of globotriaosylceramide within cells …
• Fibrodysplasia Ossificans Progressiva Fibrodysplasia Ossificans Progressiva (FOP) is an extremely rare genetic disorder in which the body progressively replaces soft tissues, such as muscles, tendons, and ligaments, with bone …
• Friedreich's Ataxia Friedreich's Ataxia (FA) is a rare, debilitating genetic disorder affecting the nervous system and certain organs, especially the heart. It is caused by a GAA repeat expansion in the FXN gene, resulting in reduced frataxin production …
• Gaucher Disease Gaucher Disease is a rare genetic disorder caused by a deficit in the enzyme glucocerebrosidase (GCase), essential for breaking down specific fat molecules …
• Hemophilia Hemophilia is a genetic bleeding disorder characterized by a deficiency or malfunction in one of the blood clotting factors, most commonly Factor VIII (Hemophilia A) or Factor IX (Hemophilia B) …
• Hereditary Hemorrhagic Telangiectasia Hereditary Hemorrhagic Telangiectasia (HHT), also known as Osler–Weber–Rendu syndrome, is a genetic disorder in which patients develop fragile blood vessels prone to bleeding …
• Hyper IgM Syndrome Hyper IgM Syndromes (HIGM) are rare genetic immunodeficiencies where patients are unable to properly switch from making IgM to other types of antibodies. This often results in severe recurrent infections …
• Hypophosphatasia Hypophosphatasia (HPP) is a rare genetic disorder caused by mutations in the ALPL gene, which impairs the function of tissue-nonspecific alkaline phosphatase (TNSALP) and disrupts bone and tooth mineralization …
• Inflammatory Myopathy with Abundant Macrophages Inflammatory Myopathy with Abundant Macrophages (IMAM) is a rare, idiopathic inflammatory myopathy. It is characterized by diffuse, destructive infiltration of muscle or fascia with CD68+ macrophages—immune cells that typically play a …
• Joubert Syndrome Notice: Data Retrieval Limitations
• Kartagener Syndrome Kartagener Syndrome (KS) is a rare, inherited disorder affecting the tiny hair-like structures, called cilia, that line the airways and other parts of the body …
• Kleine-Levin Syndrome Recent peer-reviewed literature (2022–May 2025) on Kleine-Levin Syndrome (KLS) demonstrates that, while new insights into its neurobiology and case management have emerged, there remain no consistently effective or curative treatments …
• Krabbe Disease Krabbe Disease (globoid cell leukodystrophy) is a rare and devastating neurodegenerative disorder caused by mutations in the GALC gene …
• Leigh Syndrome Leigh Syndrome (LS) is a rare, severe, early-onset neurodegenerative disorder, primarily affecting children due to defects in mitochondrial energy production …
• Leukodystrophies Leukodystrophies are a group of inherited disorders characterized by the progressive degeneration of the white matter in the brain and spinal cord …
• Lupus Systemic lupus erythematosus (SLE), commonly called lupus, is a multi-organ autoimmune disease in which the immune system mistakenly attacks the body's own tissues. Lupus can affect the skin, joints, kidneys, brain, and other organs …
• Lysosomal Storage Diseases Lysosomal Storage Diseases (LSDs) encompass over 70 rare genetic disorders caused by deficiencies or dysfunctions in lysosomal enzymes, resulting in the accumulation of macromolecules within cells …
• Macrophagic Myofasciitis Macrophagic Myofasciitis (MMF), is an uncommon and complex muscle and fascia inflammatory condition. It is primarily characterized by pathological accumulations of macrophages within muscle tissue …
• Maple Syrup Urine Disease Maple Syrup Urine Disease (MSUD) is a rare, life-threatening inherited disorder caused by mutations in the branched-chain alpha-ketoacid dehydrogenase (BCKDH) complex …
• Metachromatic Leukodystrophy Metachromatic Leukodystrophy (MLD) is a rare genetic disorder that destroys the protective myelin sheath in the nervous system. Over recent years, research has made unprecedented advances towards a cure …
• Mucopolysaccharidosis Type I (Hurler Syndrome) Mucopolysaccharidosis Type I (Hurler Syndrome) is a rare lysosomal storage disorder caused by a deficiency in the enzyme α-L-iduronidase, leading to the accumulation of glycosaminoglycans throughout the body …
• Multiple Sclerosis Multiple Sclerosis (MS) is a chronic, immune-mediated disorder of the central nervous system characterized by inflammation, demyelination, and axonal loss …
• Multiple System Atrophy Multiple System Atrophy (MSA) is a rare, progressive neurodegenerative disease with no known cure as of 2025. Over the last two years, research has accelerated, especially on therapies aiming to modify disease progression or offer a cure …
• Neurofibromatosis Type 1 Neurofibromatosis Type 1 (NF1) is a complex genetic disorder characterized by the presence of café-au-lait spots, neurofibromas, and an elevated risk for certain malignancies …
• Niemann-Pick Disease Niemann-Pick Disease (NPD) encompasses a group of rare, genetic lysosomal storage disorders divided primarily into types A, B (also called acid sphingomyelinase deficiency, ASMD), and type C …
• Pantothenate Kinase-Associated Neurodegeneration (PKAN) Pantothenate Kinase-Associated Neurodegeneration (PKAN) is a rare, inherited neurodegenerative disorder belonging to the group of Neurodegeneration with Brain Iron Accumulation (NBIA) syndromes …
• Phenylketonuria Phenylketonuria (PKU) is a genetic condition caused by mutations in the gene responsible for producing phenylalanine hydroxylase (PAH), the enzyme needed to metabolize the amino acid phenylalanine …
• Prader-Willi Syndrome Prader-Willi Syndrome (PWS) is a complex genetic disorder that arises primarily from anomalies on chromosome 15, leading to disturbances in appetite, growth, metabolism, cognitive function, and behavior …
• Primary Ciliary Dyskinesia Primary Ciliary Dyskinesia (PCD) is a rare genetic disorder characterized by dysfunction in the motile cilia necessary for effective mucociliary clearance …
• Progeria Progeria, formally known as Hutchinson–Gilford Progeria Syndrome (HGPS), is a rare genetic disorder that causes accelerated aging in children …
• Progressive Supranuclear Palsy Progressive Supranuclear Palsy (PSP) is a rare neurodegenerative disorder characterized by difficulties with balance, gait, and eye movements, as well as cognitive and behavioral changes …
• Sandhoff Disease Sandhoff Disease is a rare, inherited lysosomal storage disorder that results in the progressive destruction of nerve cells in the brain and spinal cord …
• Sickle Cell Disease Sickle Cell Disease (SCD) is an inherited blood disorder caused by abnormal hemoglobin that can lead to severe pain episodes, organ damage, and a reduced lifespan …
• Small Intestinal Bacterial Overgrowth Small Intestinal Bacterial Overgrowth (SIBO) is a condition characterized by excessive bacteria in the small intestine, often leading to symptoms such as bloating, pain, and malabsorption …
• Spinal Muscular Atrophy Spinal Muscular Atrophy (SMA) is a severe inherited neuromuscular disorder that was, until recently, a leading genetic cause of infant mortality …
• Wolfram Syndrome Wolfram Syndrome (WS), sometimes called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), is an ultra-rare, genetic, progressive neurodegenerative disease …
• X-Linked Agammaglobulinemia X-Linked Agammaglobulinemia (XLA) is a rare inherited immunodeficiency marked by a failure to produce mature B-cells, leading to severe, repeated infections. This is caused by defects in the Bruton’s tyrosine kinase (BTK) gene …