Budd Chiari Syndrome (BCS) is a rare liver condition where the hepatic veins are narrowed or blocked due to blood clots. Due to the blockages, blood flowing into the liver has difficulty in flowing out leading to build-up of blood in the liver.
Osteogenesis Imperfecta (OI) or commonly known as Brittle Bone disorder is a group of disorders affecting the connective tissue and leading to weak, fragile bones and frequent fractures without any apparent impact like a fall. Like the name implies, OI refers to imperfect bone formation and structure.
Primary Sclerosing Cholangitis (PSC) is a chronic disease of the bile ducts in the liver which become inflamed and scarred and ultimately gets blocked. As the bile ducts get blocked, it accumulates in the liver and damages the liver cells causing cirrhosis or fibrosis.
Biliary atresia is a rare disease affecting the liver and bile ducts. The condition is seen immediately after birth. In an infant or baby with biliary atresia, bile flow from the liver to the gallbladder is blocked.
Cystic Fibrosis (CF) is a genetic, progressive condition causing chronic lung infections and affecting the ability to breathe normally. People with CF have a mutated cystic fibrosis transmembrane conductance regulator (CFTR) gene which causes the CFTR protein to become dysfunctional.
Retinitis Pigmentosa is a group of genetically inherited eye disorders leading to gradual deterioration of the retina and loss of vision. Children and adults with RP experience a slow decline in vision as the photoreceptor cells in the retina degenerate.
Wolfram Syndrome also known by the acronym DIDMOAD is a genetic condition leading to juvenile diabetes in childhood, deteriorating vision due to optic atrophy and deafness.
Transverse Myelitis (TM) is a neurological condition where both sides of the same section of the spinal cord becomes inflamed. The inflammation damages the insulation myelin sheath protecting the nerves.
Pure red cell aplasia (PRCA) is a rare blood condition where the bone marrow fails to produce the required amount of red blood cells for normal activities. This results in chronic anaemia.
Multiple Sclerosis (MS) is an autoimmune condition affecting the central nervous system particularly the brain and the spinal cord. MS causes destruction of the myelin sheath (protective cover) covering nerve fibers thereby disrupting communication between the brain and the body.