Rare Disease

Vasculitis refers to a group of rare diseases that involve inflammation of blood vessels, which disrupts blood flow and often causes damage to the body’s organs. The cause of most forms of vasculitis remains unknown, and treatments involve the use of strong medications that can have serious side effects. The Vasculitis Clinical Research Consortium (VCRC) is an international, multicenter clinical

Urea cycle disorders (UCDs) are rare but devastating genetic conditions. In 2003, the Urea Cycle Disorders Consortium (UCDC) became one of the first members of the RDCRN. Since then, UCDC has flourished into an international network of 16 academic centers in the United States, Canada and Europe that provide state-of-the-art care and conduct cutting-edge clinical research. The UCDC is currently

The Primary Immune Deficiency Treatment Consortium (PIDTC) was established in 2009 to study and define optimal treatments for rare genetic disorders of the immune system, collectively known as primary immunodeficiency diseases. The PIDTC includes 44 immunology and transplantation centers throughout the United States and Canada as well as six patient advocacy groups. In its first nine years, the

The porphyrias are a group of rare, inherited disorders, each caused by a deficiency with one of eight enzymes necessary to produce heme, an important component of hemoglobin and other proteins. The porphyrias are classified as either acute hepatic (liver) or cutaneous (skin); the former is characterized generally by acute attacks of severe abdominal pain accompanied by nausea, vomiting and other

Mitochondrial diseases affect approximately 1 in every 5,000 people. These diseases can cause muscle weakness, difficulty thinking, seizures, hearing and vision loss, digestive problems, learning disabilities, and organ failure. The North American Mitochondrial Disease Consortium (NAMDC) is a network of clinicians and researchers at 17 different clinical sites working to better understand

Focal and Segmental Glomerulosclerosis, Minimal Change Disease, and Membranous Nephropathy, presenting as Nephrotic Syndrome (NS), are a group of rare renal diseases that may cause serious complications and end-stage kidney disease, generating significant individual, societal and economic burdens. The Nephrotic Syndrome Study Network (NEPTUNE) brings together physician scientists at 26 sites in

Myasthenia gravis (MG) is an autoimmune disease that blocks the signal from nerve to muscle, producing weakness. The nature of the disease can range from isolated severe vision problems, like drooping eyelids or double vision, to profound general weakness leading to breathing muscle failure. Although the cause of MG is not known, the disease appears to vary based on several factors, including the

Lysosomal disorders (LD) are a group of approximately 70 inherited conditions resulting from defects in lysosomal function, usually the deficiency of a single enzyme required for the metabolism of lipids, glycoproteins, or mucopolysaccharides. Collectively, LD are not especially rare, and estimates suggest that roughly 1 in 5,000 newborns will be affected with one identified LD. However, each

Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neurological disorders, affecting approximately 1 in 2,500 people in the United States. CMT, also known as hereditary motor and sensory neuropathy or peroneal muscular atrophy, comprises a group of disorders that affect peripheral nerves. The Inherited Neuropathy Consortium (INC) is a network of researchers working to find the

Leukodystrophies are a complex, often progressive group of disorders affecting the white matter of the brain due to the loss or absence of myelin, the lipid membrane that insulates axons in the central nervous system. Despite advances in the diagnosis of these disorders, they remain widely under-recognized, with unmet gaps in clinical care and curative therapeutics. The Global Leukodystrophy

The Genetic Disorders of Mucociliary Clearance Consortium (GDMCC) focuses on several inherited and acquired disorders that cause thickened, infected secretions to accumulate in the upper and lower airways. Its work is conducted at eight clinical research sites across the United States and Canada. During the past 15 years, the consortium has made numerous advances that profoundly changed clinical

Congenital disorders of glycosylation (CDG) consist of more than 130 different inborn errors of metabolism at an estimated overall incidence of greater than 1 in 100,000. While these disorders were first genetically defined in the 1990s, there is no data available on their natural history, no comprehensive patient registry, no reliable screening tests for many types, and large gaps in clinical

Dystonia syndromes are disorders that cause certain regions of the body to have uncontrollable movements, including twisting, spasms, repetitive shaking, or jerking. The most common dystonia disorders affect the head and neck, eyelids, vocal cords, hands, forearms, and sometimes the entire body. The overall goal of the Dystonia Coalition is to accelerate progress in dystonia research. Specific

Eosinophilic esophagitis, eosinophilic gastritis, eosinophilic gastroenteritis, and eosinophilic colitis are disorders in which a type of immune cell (called eosinophils) builds up in the digestive tract, causing gastrointestinal tissue damage. These disorders are painful, lifelong, and make it hard or impossible for people to eat many or all foods. The Consortium of Eosinophilic Gastrointestinal

The Congenital and Perinatal Infections Consortium (CPIC) is focused on reducing the morbidity and mortality of rare viral infections such as congenital cytomegalovirus (CMV) disease, neonatal herpes simplex virus (HSV) infection, and neonatal viral sepsis caused by enteroviruses (EVs) and the related human parechoviruses (HPeVs). These infections have been grouped together because of their

Amyotrophic lateral sclerosis (ALS) is a fatal disease that involves progressive death of motor nerves in the brain, brainstem, and spinal cord. The disease is closely related to disorders such as primary lateral sclerosis, hereditary spastic paraplegia, progressive muscular atrophy, and frontotemporal dementia. These diseases have shared genetic causes and underlying biology as well as a shared