We’re looking at why some people get genetic diseases that affect their nerves and muscles. We’re focusing on tiny parts of cells called… Read more

Mitochondrial diseases are rare disorders that affect the energy-generating “batteries” of the cell. Patients may suffer from cognitive decline, movement disorder, seizures. There are no therapies for mitochondrial diseases. Read more

ur muscles help us move and perform daily activities thanks to a complex process involving specific proteins, one of which is called MyHC-2X. This protein is crucial for muscle development and function, but there’s still a lot we don’t know… Read more

Repeat expansion disorders are inherited disorders where the disease gene has extra base pairs inserted (usually based CAGs), such as in Huntington’s disease where the normal numbers of CAG repeats in the gene is under 36 but… Read more

Prader-Willi syndrome is a genetic disorder caused by the lack of expression of specific genes related to the father. It is believed that the impaired development of two brain regions, the hypothalamus and the locus coeruleus, plays… Read more

Huntington’s Disease is a genetic condition that is passed on (inherited) from a person’s parents. It is caused by a faulty gene in a person’s DNA, where a section of the gene has become repeated, or expanded… Read more

It has been recognized for more than 50 years that black African and Caribbean individuals are at risk of developing loss of feeling in the arms and legs and loss of vision and hearing following periods of fasting or when eating a diet… Read more

Metachromatic leukodystrophy (MLD) is a rare genetic disease that normally affects children and leads to damage to the brain and premature death. In contrast, Parkinson’s disease (PD) is a relatively common disease that affects older… Read more

Spinal muscular atrophy (SMA) is a childhood form of motor neurone disease. It targets the nerve cells (motor neurons) found in the spinal cord. These nerve cells are the key link between the brain… Read more

Mitochondria are small parts of mammalian cells that generate energy. Each mitochondrion contains many copies of mitochondrial DNA (mtDNA), the genetic code for making proteins needed for energy production… Read more

Duchenne muscular dystrophy (DMD) is an inherited disease that primarily affects boys. It occurs due to errors (or mutations) in the DMD gene on the X-chromosome, which carries the genetic code for making an essential muscle protein… Read more

Duchenne (DMD) and Becker (BMD) muscular dystrophy are inherited diseases that primarily affect boys. They occur due to errors (or mutations) in the DMD gene which is located on the X-chromosome… Read more

Krabbe disease is a rare disease that affects very young infants and usually causes their death by the age of two years old. Parkinson’s disease (PD) is the second most common neurodegenerative disease after Alzheimer’s disease, and… Read more

Central pontine myelinolysis (CPM) and Alexander’s diseases (AxD) are rare neurological disorders with similar symptoms. One of these symptoms is the loss of special coating on nerve cells called myelin… Read more

Fragile X Syndrome (FXS) is a genetic disorder that causes abnormalities in brain development. FXS patients show the following symptoms: social deficits, mental retardation, hyperactivity, impairments in language, and… Read more

PURA syndrome is a rare disorder in which development of the brain in young people causes them to have development problems, which include movement and learning ability. This disorder is caused by mutations… Read more

Huntington’s disease is a devastating genetic progressive brain condition with no cure, that affects people in their young adult life who develop uncontrolled movements, emotional and thinking problems. A key feature… Read more

Charcot-Marie-Tooth Disease (CMT) is the most common cause of inherited peripheral neuropathies affecting approximately 1 in 2500 people. People with this condition present with upper and lower limb weakness, wasting and… Read more

Cerebellar ataxia is a neurological problem in which patients complain of poor balance, have movement problems, demonstrate abnormal eye movements and also have speech and swallowing problems… Read more

Alexander’s disease is a rare terminal disease mostly affecting children. The disease is in a group of brain cells called astrocytes and a genetic link has been identified as the cause. However, little is known about… Read more

Spinal muscular atrophy (SMA) is severely debilitating and ultimately life-limiting conditions that selectively affect motor neurons, the nerve cells that control our voluntary muscles… Read more

Tuberous Sclerosis Complex (TSC). TSC is a genetic disease which causes multiple tumours within the body. Heart, brain, kidney, skin and lung can be affected… Read more

Breast cancer is the second most common cancer diagnosed worldwide. The most severe form occurs when it spreads (metastasis) from the breast tissue to other regions of the body… Read more

The research to be conducted aims to determine how non-neuronal cells in the brain contribute to the detrimental events in Alzheimer’s Disease (AD) and Down syndrome (DS) associated AD. A common feature in AD is… Read more

Down syndrome is the most common form of intellectual disability, with a worldwide prevalence of 1 in 750 live births. In the majority of cases, Down syndrome is caused by the presence of an extra copy of chromosome 21… Read more

We are interested to understand whether there is a genetic basis for susceptibility to Wernicke Korsakoff’s Syndrome (WKS). This syndrome has a number of symptoms including short-term memory loss and in extreme cases psychosis… Read more

Mitochondria are cellular batteries that convert the food we eat into energy, in the form of ATP. They are small complex structures present in every cell in the human body, except red blood cells, and typically… Read more

Huntington’s disease is a genetic disease characterized by progressive motor, cognitive and psychiatric impairment typically manifesting during mid-life. The scale of the defect to the affected gene correlates to the loss of brain cells… Read more