Rare Diseases Cohort - Catalogue

Rare diseases are life-threatening or chronically debilitating diseases which affect more than just the individual; around 1 in 17 people in the UK have a rare disease and their condition has an impact on the lives of those around them, family, friends and colleagues.

Diagnosis of rare diseases is often difficult and delays may occur. Around 80 per cent of rare diseases are of a genetic basis and others include rare cancers, diseases of the immune system, birth defects and infectious diseases. The European Union’s definition of a rare disease is one that affects fewer than five in 10,000 people and some well-known rare conditions include cystic fibrosis and muscular dystrophy.

Only a quarter of rare diseases have had their molecular basis defined and some diseases are so rare that an average GP will only see a case once in their lifetime. 

By studying the genomes of thousands of volunteers affected by specific groups of diseases, researchers will have a powerful resource of information to enable them to pinpoint genes that cause these diseases. Discovering genes causing rare diseases is the start of a journey to unravel accurate testing methods which will enable rapid diagnosis. 

This catalogue provides information on some of the rare diseases we are currently research at ICH & GOSH. The BRC has a much more detailed version of the catalogue which is open to GOSH/ICH researchers (includes types of tissues/cells stored, associated charities, no. of patients, research status etc). If you would like access to this catalogue - please contact Dauda Bappa (dauda.bappa@gosh.nhs.uk). 

3MC syndrome

Summary: 3MC syndrome is a disorder characterized by unusual facial features and problems affecting other tissues and organs.

Lead investigator: Professor Phil Beales (p.beales@ucl.ac.uk)

Adrenal insufficiency

Summary: Adrenal insufficiency is a condition in which the adrenal glands do not produce adequate amounts of steroid hormones, primarily cortisol; but may also include impaired production of aldosterone (a mineralocorticoid), which regulates sodium conservation, potassium secretion, and water retention. Craving for salt or salty foods due to the urinary losses of sodium is common.

Lead investigator: Professor John Acherman (j.achermann@ucl.ac.uk)

All inherited metabolic diseases

Summary: Patients with inherited metabolic diseases or suspected to have an inherited metabolic disease. Inherited metabolic disorders refer to different types of medical conditions caused by genetic defects — most commonly inherited from both parents — that interfere with the body's metabolism. These conditions may also be called inborn errors of metabolism.

Lead investigator: Professor Philippa Mills (p.mills@ucl.ac.uk)


Summary: Alpha-sarcoglycanopathy, also known as limb-girdle muscular dystrophy type 2D (LGMD2D), is an inherited genetic disease in which muscles of the hip, abdomen, and shoulder progressively weaken.

Lead investigator: Professor Francesco Muntoni (f.muntoni@ucl.ac.uk)

Autistic spectrum disorder (ASD)

Summary: Autism spectrum disorder (ASD) is a condition that affects social interaction, communication, interests and behaviour.

Lead investigator: Professor David Skuse (d.skuse@ucl.ac.uk)

Autoimmune encephalitis

Summary: Autoimmune encephalitis refers to a group of conditions that occur when the body's immune system mistakenly attacks healthy brain cells, leading to inflammation of the brain. People with autoimmune encephalitis may have various neurologic and/or psychiatric symptoms.

Lead investigator: Dr Frederique Liegeois (f.liegeois@ucl.ac.uk)

Autosomal dominant hypocalcemia

Summary: Autosomal dominant hypocalcemia is characterized by low levels of calcium in the blood (hypocalcemia). Affected individuals can have an imbalance of other molecules in the blood as well, including too much phosphate (hyperphosphatemia) or too little magnesium (hypomagnesemia).

Lead investigator: Professor Detlef Bockenhauer (d.bockenhauer@ucl.ac.uk)

Autosomal dominant polycystic kidney disease (ADPKD)

Summary: Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder characterized by the growth of numerous cysts in the kidneys. It is the most common inherited disorder of the kidneys. Symptoms usually develop between the ages of 30 and 40, but they can begin earlier, even in childhood. The most common symptoms are pain in the back and the sides and headaches.

Lead investigator: Professor Paul Winyard (p.winyard@ucl.ac.uk)

Bardet-Biedl Syndrome

Summary: Bardet-Biedl syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.

Lead investigator: Professor Phil Beales (p.beales@ucl.ac.uk)

Bartter Syndrome/Gitelman Syndrome

Summary: Bartter syndrome and Gitelman syndrome (also called tubular hypomagnesemia-hypokalemia with hypocalciuria) are autosomal recessive disorders with characteristic sets of metabolic abnormalities.

Lead investigator: Professor Detlef Bockenhauer (d.bockenhauer@ucl.ac.uk)

Becker muscular dystrophy

Summary: Becker muscular dystrophy is a muscle-wasting condition, first described in 1956, which usually affects only males. It causes muscles to weaken and waste over time, leading to increasing and often severe disability.

Lead investigator: Professor Francesco Muntoni (f.muntoni@ucl.ac.uk)


Summary: Beta-sarcoglycanopathy, also known as limb-girdle muscular dystrophy type 2E (LGMD2E), typically causes muscle weakness as a result of a deficiency of the protein, beta-sarcoglycan, in the dystrophin-glycoprotein complex, a component of the muscle system.

Lead investigator: Professor Francesco Muntoni (f.muntoni@ucl.ac.uk)

Calpain-deficient Limb girdle muscular dystrophy(LGMD)

Summary: Limb-girdle muscular dystrophies (LGMD) are a group of rare progressive genetic disorders that are characterized by wasting (atrophy) and weakness of the voluntary muscles of the hip and shoulder areas (limb-girdle area). Muscle weakness and atrophy are progressive and may spread to affect other muscles of the body.

Lead investigator: Professor Francesco Muntoni (f.muntoni@ucl.ac.uk)

Centronuclear myopathies

Summary: Centronuclear myopathy (CNM) is an umbrella term for a group of rare genetic muscle disorders. These disorders are characterized by muscle weakness that can range from mild to profound. Symptoms are often present at birth in the severe forms, but may first develop at any point during life, although onset in adulthood is unusual.

Lead investigator: Professor Francesco Muntoni (f.muntoni@ucl.ac.uk)

CHARGE syndrome

Summary: CHARGE syndrome is a recognizable genetic syndrome with known pattern of features. It is an extremely complex syndrome, involving extensive medical and physical difficulties that differ from child to child. Babies with CHARGE syndrome are often born with life-threatening birth defects.

Lead investigator: Professor Mehul Datani (m.dattani@ucl.ac.uk)

Chronic granulomatous disease

Summary: Development of clusters of blisters in specific areas of the body.

Lead investigator: Professor Davod Goldblatt (d.goldblatt@ucl.ac.uk)

Congenital Muscular Dystrophies (CMD); CMD type 1B, CMD type Ic, CMD1D, dysferlin deficient, gamma-sarcoglycan deficiency

Summary: Congenital muscular dystrophy (CMD) is a general term for a group of genetic muscle diseases that occur at birth (congenital) or early during infancy. CMDs are generally characterized by diminished muscle tone (hypotonia), which is sometimes referred to as "floppy baby"; progressive muscle weakness and degeneration (atrophy); abnormally fixed joints that occur when thickening and shortening of tissue such as muscle fibers cause deformity and restrict the movement of an affected area (contractures); spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted.

Lead investigator: Professor Francesco Muntoni (f.muntoni@ucl.ac.uk)

Complex multi-system mitochondrial disorders of infancy and childhood

Summary: Mitochondrial disease refers to several hundred genetic diseases caused by mutations (or changes) in either mitochondrial DNA or nuclear DNA. These mutations affect the ability for the mitochondria to properly function within a cell.

Lead investigator: Professor Shamima Rahman (shamima.rahman@ucl.ac.uk)

Congenital central hypoventilation syndrome

Summary: Congenital central hypoventilation syndrome (CCHS) is a disorder of the autonomic nervous system that affects breathing. It causes a person to hypoventilate (especially during sleep), resulting in a shortage of oxygen and a buildup of carbon dioxide in the blood. It have two forms of presentation, a classic form that usually begin shortly after birth in newborns, and a milder later-onset presentaition in toddlers, children and adults.

Lead investigator: Dr Martin Samuels 

Congenital hypothyroidism

Summary: Congenital hypothyroidism is a disorder affecting the thyroid gland, which is in the neck. The thyroid gland produces a hormone (chemical substance) called thyroxine, which is needed for normal growth and development. If the thyroid gland does not produce enough thyroxine, it causes hypothyroidism. If the disorder is present at birth, it is called congenital hypothyroidism.

Lead investigator: Dr Rachel Knowles (rachel.knowles@ucl.ac.uk)

Congenital distal spinal muscular atrophy (SMA)

Summary: Congenital distal spinal muscular atrophy is a hereditary condition characterized by muscle wasting (atrophy), particularly of distal muscles in legs and hands, and by early-onset contractures (permanent shortening of a muscle or joint) of the hip, knee, and ankle.

Lead investigator: Professor Francesco Muntoni (f.muntoni@ucl.ac.uk)

Congenital myasthenic syndromes

Summary: The congenital myasthenic syndromes (CMS) are a diverse group of disorders that have an underlying defect in the transmission of signals from nerve cells to muscles. These disorders are characterized by muscle weakness, which is worsened upon exertion.

Lead investigator: Professor Francesco Muntoni (f.muntoni@ucl.ac.uk)

Congenital Nephrotic Syndrome

Summary: Congenital Central Hypoventilation syndrome (CCHS) is a condition affecting how the autonomic nervous system manages breathing.

Lead investigator: Dr Martin Samuels (martin.samuels@gosh.nhs.uk)

Core myopathies

Summary: Central core disease (CCD) is a rare genetic neuromuscular disorder that is classified as a congenital myopathy, meaning that it is a muscle disorder (myopathy) that is present at birth (congenital). Affected infants have diminished muscle tone (hypotonia) resulting in abnormal "floppiness", muscle weakness, and a variety of skeletal abnormalities such as side-to-side curvature of the spine (scoliosis).

Lead investigator: Professor Francesco Muntoni (f.muntoni@ucl.ac.uk)

Cystic fibrosis

Summary: Cystic fibrosis (CF) is a genetic disorder that affects mostly the lungs, but also the pancreas, liver, kidneys, and intestine. Long-term issues include difficulty breathing and coughing up mucus as a result of frequent lung infections.

Lead investigator: Professor Stephen Hart (s.hart@ucl.ac.uk)

Duchenne Muscular Dystrophy

Summary: Duchenne muscular dystrophy (DMD) is a genetic disorder characterized by progressive muscle degeneration and weakness. It is one of nine types of muscular dystrophy.

Lead investigator: Professor Francesco Muntoni (f.muntoni@ucl.ac.uk)

Dystrophic and junctional epidermolysis bullosa

Summary: Epidermolysis bullosa is a group of genetic conditions that cause the skin to be very fragile and to blister easily. Blisters and skin erosions form in response to minor injury or friction, such as rubbing or scratching. Dystrophic epidermolysis bullosa (DEB) is one of the major forms of epidermolysis bullosa.

Lead investigator: Dr Anna Martinez (anna.martinez@gosh.nhs.uk)

EAST syndrome

Summary: EAST syndrome is a syndrome consisting of epilepsy, ataxia (a movement disorder), sensorineural deafness (deafness because of problems with the hearing nerve) and salt-wasting renal tubulopathy (salt loss caused by kidney problems).

Lead investigator: Dr Detlef Bockenhauer (d.bockenhauer@ucl.ac.uk)

Emery-Dreifuss muscular dystrophy

Summary: Emery-Dreifuss muscular dystrophy is a condition that affects the joints, muscles, and heart. Joint symptoms tend to present in childhood and involve contractures of the elbows, ankles, and neck. Children and adults with this dystrophy usually experience slowly worsening muscle weakness and wasting. By adulthood, most people with Emery-Dreifuss muscular dystrophy develop heart problems, such as conduction defects and arrhythmias.

Lead investigator: Professor Francesco Muntoni (f.muntoni@ucl.ac.uk)

Epidermolysis bullosa simplex/non-simplex

Summary: Epidermolysis bullosa simplex (EBS) is one of the major forms of epidermolysis bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily. EBS is classified into two groups of subtypes by the layer of skin at which the peeling originates. The basal subtypes cause skin peeling at the lower layers of the epidermis.

Lead investigator: Dr Anna Martinez (anna.martinez@gosh.nhs.uk)

Facioscapulohumeral dystrophy

Summary: Facioscapulohumeral (FSHD) muscular dystrophy is a genetic muscle-wasting condition that causes muscles to weaken and waste over time leading to increasing disability. It particularly affects the muscles of the limbs, shoulders and face.

Lead investigator: Professor Francesco Muntoni (f.muntoni@ucl.ac.uk)

Gamma sarcoglycanopathy

Summary: Germinal matrix hemorrhage is a bleeding into the subependymal germinal matrix with or without subsequent rupture into the lateral ventricle. Such intraventricular hemorrhage can occur due to perinatal asphyxia in preterm neonates.

Lead investigator: Dr William Dawes (william.dawes@nhs.uk)

Haemophilia B

Summary: Haemophilia B (also known as Factor IX deficiency) is a type of clotting disorder, much rarer than Haemophilia A (Classic Haemophilia or Factor VIII deficiency). A specific protein is missing from the blood so that injured blood vessels cannot heal in the usual way.

Lead investigator: Professor Hannah Mitchison (h.mitchison@ucl.ac.uk)


Summary: Ichthyosis is a term used for a group of conditions that affect the skin, making it rough and scaly.

Lead investigator: Dr Anna Martinez (anna.martinez@gosh.nhs.uk)

Inherited metabolic diseases

Summary: Inherited metabolic disorders are genetic conditions that result in metabolism problems. Most people with inherited metabolic disorders have a defective gene that results in an enzyme deficiency. There are hundreds of different genetic metabolic disorders, and their symptoms, treatments, and prognoses vary widely.

Lead investigator: Dr Philippa Mills (p.mills@ucl.ac.uk)

Juvenile Dermatomyositis (JDM)

Summary: Juvenile Dermatomyositis (JDM) is a childhood illness which affects the skin (dermato) and muscles (myositis) and frequently other parts of the body including joints, lungs, gut and blood vessels. JDM is a rare condition, affecting about 3 in a million children each year in the UK which makes it challenging to carry out research.

Lead investigator: Professor Lucy Wedderburn (l.wedderburn@ucl.ac.uk)

Lowe/Dent syndrome

Summary: Dent disease is a rare genetic kidney disorder characterized by spillage of small proteins in the urine, increased levels of calcium in the urine, kidney calcifications (nephrocalcinosis), recurrent episodes of kidney stones (nephrolithiasis) and chronic kidney disease. Dent disease affects males almost exclusively.

Lead investigator: Professor Mehul Datani (m.dattani@ucl.ac.uk)


Summary: Microcephaly is a condition where the head (circumference) is smaller than normal. Microcephaly may be caused by genetic abnormalities or by drugs, alcohol, certain viruses, and toxins that are exposed to the fetus during pregnancy and damage the developing brain tissue.

Lead investigator: Dr Rachel Knowles (rachel.knowles@ucl.ac.uk)

Mitochondrial cardiomyopathies

Summary: Mitochondrial cardiomyopathies can vary in severity from asymptomatic status to severe manifestations including heart failure, arrhythmias, and sudden cardiac death. Hypertrophic cardiomyopathy is the most common type; however, mitochondrial cardiomyopathies might also present as dilated, restrictive, left ventricular non-compaction, and histiocytoid cardiomyopathies.

Lead investigator: Professor Shamima Rahman (shamima.rahman@ucl.ac.uk)

Mitochondrial DNA deletion disorder

Summary: Mitochondrial DNA depletion syndrome (MDS or MDDS) is any of a group of autosomal recessive disorders that cause a significant drop in mitochondrial DNA in affected tissues. Symptoms can be any combination of myopathic, hepatopathic, or encephalomyopathic. These syndromes affect tissue in the muscle, liver, or both the muscle and brain, respectively.

Lead investigator: Professor Shamima Rahman (shamima.rahman@ucl.ac.uk)


Summary: Moyamoya is a rare condition in which the blood vessels (internal carotid arteries) that supply blood to the brain become narrowed. This limits the flow of blood to the brain, and puts them at risk for stroke.

Lead investigator: Dr Vijeya Ganesan (v.ganesan@ucl.ac.uk)

Muscle eye brain disease (MEB)

Summary: MEB belongs to a group of genetic, degenerative muscular disorders that are present from birth (congenital muscular dystrophy). Individuals with this condition are born with muscle weakness (hypotonia), severe nearsightedness (myopia), glaucoma , and brain abnormalities.

Lead investigator: Professor Francesco Muntoni (f.muntoni@ucl.ac.uk)

Myofibrillar myopathy

Summary: Myofibrillar myopathy is part of a group of disorders called muscular dystrophies that affect muscle function and cause weakness. Myofibrillar myopathy primarily affects skeletal muscles, which are muscles that the body uses for movement. ... Facial muscle weakness can cause swallowing and speech difficulties.

Lead investigator: Professor Francesco Muntoni (f.muntoni@ucl.ac.uk)

Myotonic dystrophy

Summary: Myotonic dystrophy is a disease that affects the muscles and other body systems. It is the most common form of muscular dystrophy that begins in adulthood, usually in a person’s 20s or 30s. This disease is characterized by progressive muscle loss and weakness.

Lead investigator: Professor Francesco Muntoni (f.muntoni@ucl.ac.uk)

Nemaline myopathy

Summary: Nemaline myopathy (also called rod myopathy or nemaline rod myopathy) is a congenital, hereditary neuromuscular disorder with many symptoms that can occur such as muscle weakness, hypoventilation, swallowing dysfunction, and impaired speech ability.

Lead investigator: Professor Francesco Muntoni (f.muntoni@ucl.ac.uk)

Nephrogenic diabetes insipidus (NDI)

Summary: NDI is a rare kidney disorder that may be inherited or acquired. ... NDI is a distinct disorder caused by complete or partial resistance of the kidneys to arginine vasopressin (AVP). Vasopressin is an antidiuretic hormone used by the kidney to manage water balance in the body.

Lead investigator: Professor Detlef Böckenhauer (d.bockenhauer@ucl.ac.uk)

Netherton syndrome

Summary: Netherton syndrome is a type of ichthyosis. Symptoms vary but commonly include inflamed, red, scaly skin, short, brittle, lustreless hair, and a predisposition to allergy problems (e.g., to nuts, hay fever, and asthma). Symptoms may be mild or severe and tend to present in infancy. Failure to thrive and recurrent infection are possible complications in infants with this syndrome.

Lead investigator: Dr Anna Martinez (anna.martinez@gosh.nhs.uk)


Summary: Neuroblastoma (NB) is a type of cancer that forms in certain types of nerve tissue. It most frequently starts from one of the adrenal glands, but can also develop in the neck, chest, abdomen, or spine. Symptoms may include bone pain, a lump in the abdomen, neck, or chest, or a painless bluish lump under the skin.

Lead investigator: Professor Andrew Stoker (a.stoker@ucl.ac.uk)

Norrie disease

Summary: Norrie disease is a genetic disorder that primarily affects the eye and almost always leads to blindness. In addition to the congenital ocular symptoms, some patients suffer from a progressive hearing loss starting mostly in their 2nd decade of life, and some may have learning difficulties.

Lead investigator: Pending

Ovarian insufficiency

Summary: Primary ovarian insufficiency - also called premature ovarian failure — occurs when the ovaries stop functioning normally before age 40. When this happens, your ovaries don't produce normal amounts of the hormone estrogen or release eggs regularly. This condition often leads to infertility.

Lead investigator: Professor John Acherman (j.achermann@ucl.ac.uk)

Paediatric hypertrophic cardiomyopathy

Summary: Pediatric cardiomyopathy is a rare heart condition that affects infants and children. Specifically, cardiomyopathy means disease of the heart muscle (myocardium). Several different types of cardiomyopathy exist and the specific symptoms vary from person to person.

Lead investigator: Professor Juan Kaski (j.kaski@ucl.ac.uk)

Paediatric inherited cardiovascular disease and sudden cardiac death syndromes*

Summary: Cardiomyopathies characterised by progressive abnormality of the heart muscle, heart failure symptoms and risk of sudden cardiac death; Arrhythmia syndromes characterised by risk of sudden cardiac death; Aortopathies characterised by abnormalities of connective tissue, risk of anuerysm/dissection of blood vessels.

*includes cardiomyopathies (HCM; dilated cardiomyopathy [DCM]; arrhythmogenic cardiomyopathy [ARVC]; inherited arrhythmia syndromes (incl. long QT [LQTS]; Brugada [BrS]; catecholaminergic polymorphic ventricular tachycardia [CPVT]; short QT [SQTS] syndromes); aortopathies (incl; Marfan syndrome, Loeys-Dietz syndrome, vascular EDS); and cardiac manifestations of rare multisytem diseases (metabolic [e.g. MPS, LSD, mitochondrial] and neuromuscular).

Lead investigator: Professor Juan Kaski (j.kaski@ucl.ac.uk)

Paediatric pulmonary hypertension

Summary: Pulmonary hypertension is a disorder where the blood flow that leaves the right side of the heart faces an increased resistance (pressure). Normally blood flows from the right side of the heart into the pulmonary arteries and smaller blood vessels in the lungs.

Lead investigator: Dr Shahin Moledina (Shahin.Moledina@gosh.nhs.uk)

Paediatruc myelodysplastic syndromes

Summary: Myelodysplastic syndrome (MDS) is a rare disease that keeps the body from properly producing blood cells and producing enough of them. MDS develops in the bone marrow — the soft, spongy center of the long bones that produces white blood cells to fight infection, red blood cells that carry oxygen, and platelets that help blood clot and stop bleeding. With this disease, blood cells lose their ability to mature and function properly.

Lead investigator: Professor Anupama Rao (anupama.rao@gosh.nhs.uk)

Peripheral neuropathy

Summary: Peripheral neuropathy refers to the conditions that result when nerves that carry messages to and from the brain and spinal cord from and to the rest of the body are damaged or diseased. The peripheral nerves make up an intricate network that connects the brain and spinal cord to the muscles, skin, and internal organs.

Lead investigator: Professor Francesco Muntoni (f.muntoni@ucl.ac.uk)

Pontocerebellar hypoplasia

Summary: Pontocerebellar hypoplasia is a genetic disease that affects the development of the brain. Babies and children with this disease have an unusually small and underdeveloped cerebellum, which is the part of the brain that coordinates movement.

Lead investigator: Professor Shamima Rahman (shamima.rahman@ucl.ac.uk)

Primary ciliary dyskinesi

Summary: Primary ciliary dyskinesia (PCD), is a rare, ciliopathic, autosomal recessive genetic disorder that causes defects in the action of cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear), fallopian tube, and flagellum of sperm cells.

Lead investigator: Professor Hannah Mitchison (h.mitchison@ucl.ac.uk)

Primary immunodeficiency diseases (PIDs)

Summary: Primary immunodeficiency disorder (PID) refers to a heterogeneous group of disorders characterized by poor or absent function in one or more components of the immune system. Over 130 different disorders have been identified to date, with new disorders continually being recognized.

Lead investigators: Professor Adrian Thrasher (A.Thrasher@ucl.ac.uk) & Professor Bobby Gaspar (h.gaspar@ucl.ac.uk)

Primary mitochondrial diseases

Summary: Primary mitochondrial myopathies (PMM) are a group of disorders that are associated with changes in genetic material (e.g. depletions, deletions, or mutations) found within the DNA of mitochondria (mtDNA) or with genes outside the mitochondria (nuclear DNA), affecting predominantly the skeletal muscle.

Lead investigator: Professor Shamima Rahman (shamima.rahman@ucl.ac.uk)

Pulmonary hypertension

Summary: Pulmonary hypertension is a type of high blood pressure that affects the arteries in your lungs and the right side of your heart. In one form of pulmonary hypertension, tiny arteries in your lungs, called pulmonary arterioles, and capillaries become narrowed, blocked or destroyed.

Lead investigator: Dr Shahin Moledina (Shahin.Moledina@gosh.nhs.uk)

Giant axonal neuropathy

Summary: Giant axonal neuropathy (GAN) is a neurodegenerative disorder characterized by abnormally large and dysfunctional axons (the specialized extensions of nerve cells that are required for the transmission of nerve impulses). The condition typically appears in infancy or early childhood with severe peripheral motor and sensory neuropathy (affecting movement and sensation in the arms and legs). Early signs include difficulty walking, lack of coordination, and loss of strength. Over time, the central nervous system (brain and spinal cord) becomes involved, causing a gradual decline in mental function, loss of control of body movements, and seizures.

Lead investigator: Professor Francesco Muntoni (f.muntoni@ucl.ac.uk)

Rare demyelinating neuropathies

Summary: Chronic inflammatory demyelinating polyneuropathy (CIDP) is a rare neurological disorder in which there is inflammation of nerve roots and peripheral nerves and destruction of the fatty protective covering (myelin sheath) over the nerves. This affects how fast the nerve signals are transmitted and leads to loss of nerve fibers. This causes weakness, paralysis and/or impairment in motor function, especially of the arms and legs (limbs).

Lead investigator: Professor Francesco Muntoni (f.muntoni@ucl.ac.uk)

Rasmussen's encephalitis

Summary: Rasmussen's encephalitis, is a rare inflammatory neurological disease, characterized by frequent and severe seizures, loss of motor skills and speech, hemiparesis (weakness on one side of the body), encephalitis (inflammation of the brain), and dementia.

Lead investigator: Professor Chris Clark (christopher.clark@ucl.ac.uk)

Renal cysts and diabetes syndrome

Summary: Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY; see this term) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome.

Lead investigator: Professor Detlef Bockenhauer (d.bockenhauer@ucl.ac.uk)

Renal malformation

Summary: The term ‘renal malformation’ encompasses a mixed bag of developmental aberrations, all of which involve anatomical or major structural anomalies which are present at the time of birth. In the most extreme example, called renal agenesis, the kidney is absent. Renal dysplasia describes an organ comprised of undifferentiated and metaplastic cells: these organs may be tiny (renal aplasia) or can distend the abdomen (the multicystic dysplastic kidney). A hypoplastic kidney is small and has fewer nephrons than normal: these nephrons may be grossly enlarged in oligomeganephronia.

Lead investigator: Professor Detlef Bockenhauer (d.bockenhauer@ucl.ac.uk)

Renal tubular acidosis

Summary: Renal tubular acidosis (RTA) is a disease that occurs when the kidneys fail to excrete acids into the urine, which causes a person's blood to remain too acidic. Without proper treatment, chronic acidity of the blood leads to growth retardation, kidney stones, bone disease, chronic kidney disease, and possibly total kidney failure.

Lead investigator: Professor Detlef Bockenhauer (d.bockenhauer@ucl.ac.uk)

Retinal dystrophies

Summary: Retinal dystrophies are chronic and progressive disorders of visual function. ‘Dystrophy’ means a condition that a person is born with, and ‘retinal’ means relating to the retina.

Lead investigator: Professor Jugnoo Rahi (j.rahi@ucl.ac.uk)

Rigid spine syndrome

Summary: Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency.

Lead investigator: Professor Francesco Muntoni (f.muntoni@ucl.ac.uk)

Septo-optic dysplasia (SOD)

Summary: Septo-optic dysplasia (SOD), (de Morsier syndrome) is a rare congenital malformation syndrome featuring underdevelopment of the optic nerve, pituitary gland dysfunction, and absence of the septum pellucidum (a midline part of the brain).

Lead investigator: Professor Mehul Dattani (m.dattani@ucl.ac.uk)

Silver Russell-Syndrome

Summary: Silver Russell Syndrome [SRS], or Russell Silver Syndrome [RSS/SRS] is a rare disorder characterized by intrauterine growth retardation and postnatal growth deficiency along with a handful of common physical characteristics and a range of other symptoms.

Lead investigator: Professor Gudrun Moore (gudrun.moore@ucl.ac.uk)

Spinal muscular atrophy

Summary: Spinal muscular atrophy (SMA) is a genetic condition that makes the muscles weaker and causes problems with movement. It's a serious condition that gets worse over time, but there are treatments to help manage the symptom.

Lead investigator: Professor Francesco Muntoni (f.muntoni@ucl.ac.uk)

Stevens-Johnson syndrome

Summary: Stevens-Johnson syndrome is a rare, serious disorder of your skin and mucous membranes. It's usually a reaction to a medication or an infection. Often, it begins with flu-like symptoms, followed by a painful red or purplish rash that spreads and blisters. Then the top layer of the affected skin dies, sheds and then heals.

Lead investigator: Professor Peter Scambler (p.scambler@ucl.ac.uk)

Sudden infant death syndrome (SIDS)

Summary: The exact cause of SIDS is unknown, but it's thought to be down to a combination of factors. Experts believe SIDS occurs at a particular stage in a baby's development and that it affects babies vulnerable to certain environmental stresses.

Lead investigator: Professor Neil Sebire (Neil.Sebire@gosh.nhs.uk)

Turner syndrome

Summary: Turner syndrome is a female-only genetic disorder that affects about 1 in every 2,000 baby girls. A girl with Turner syndrome only has one normal X sex chromosome, rather than the usual two.

Lead investigator: Professor David Skuse (d.skuse@ucl.ac.uk)

Usher Syndrome

Summary: Usher syndrome is a condition characterized by partial or total hearing loss and vision loss that worsens over time.

Lead investigator: Professor Lyn Chitty (l.chitty@ucl.ac.uk)


Summary: Vasculitis is inflammation of your blood vessels. It causes changes in the blood vessel walls, including thickening, weakening, narrowing or scarring. These changes can restrict blood flow, resulting in organ and tissue damage.

Lead investigator: Professor Paul Brogan (p.brogan@ucl.ac.uk)

Very-early-onset IBD (VEO-IBD)

Summary: Very-early-onset IBD (VEO-IBD) is diagnosed in children younger than age six. This rare but serious disease is different from Crohn's disease and ulcerative colitis and causes severe, debilitating symptoms that don't typically respond to standard treatments for IBD.

Lead investigator: Dr Neil Shah (neil.shah@gosh.nhs.uk)

Walker Warburg syndrome

Summary: Walker-Warburg syndrome is an inherited disorder that affects development of the muscles, brain, and eyes. It is the most severe of a group of genetic conditions known as congenital muscular dystrophies, which cause muscle weakness and wasting (atrophy) beginning very early in life.

Lead investigator: Dr Claire Booth (drclairebooth@gmail.com)

Wilms tumour

Summary: Wilms’ tumour is a type of kidney (renal) cancer in children.

Lead investigator: Professor Kathy Pritchard-Jones (k.pritchard-jones@ucl.ac.uk )

X-linked lymphoproliferative disease (XLP)

Summary: X-linked lymphoproliferative disease (XLP) is a disorder of the immune system and blood-forming cells that is found almost exclusively in males. More than half of individuals with this disorder experience an exaggerated immune response to the Epstein-Barr virus (EBV).

Lead investigator: Dr Claire Booth (drclairebooth@gmail.com)