Available therapies

is a type of non-Hodgkin lymphoma (NHL). NHL is a type of blood cancer that affects white blood cells called lymphocytes. It is a cancer of the lymphatic system.

is the name for a group of inherited health conditions that affect the red blood cells. The most serious type is called sickle cell anaemia.

is an inherited blood disorder caused by a deficiency in the production of beta-globin, a protein essential for haemoglobin, which carries oxygen in red blood cells.

is a rare genetic bleeding disorder caused by a deficiency of clotting factor IX, a protein essential for normal blood clotting.

is an acute leukaemia in which too many B-cell lymphocytes (a type of white blood cells) are produced in the bone marrow.

is caused by a problem with the DDC gene. This gene provides instructions for making the AADC enzyme which helps produce neurotransmitters from other molecules. Specifically, it helps produce serotonin and dopamine that transmit signals between nerve cells in the brain, spinal cord and other parts of the body.

is a rare, genetic, neuromuscular condition. It causes progressive muscle wasting (atrophy) and weakness.

is a type of non-Hodgkin lymphoma (NHL). It is sometimes called primary thymic mediastinal lymphoma. It develops when B-cells become abnormal (cancerous). B-cells are white blood cells that normally help fight infection. They are sometimes called B-lymphocytes. The abnormal B-cells (lymphoma cells) build up in lymph nodes behind the breastbone and between the lungs. This area is called the mediastinum.

is an autosomal recessive genetic disorder which at the moment has no cure. MLD is directly caused by a deficiency of the enzyme Arylsulfatase-A. Without this enzyme sulfatides build up, eventually destroying the myelin sheath of the nervous system. The myelin sheath is a fatty covering that protects nerve fibres. Without it, the nerves in the brain and the peripheral nerves do not function properly.

is a type of blood cancer that affects white blood cells called lymphocytes, which help the body fight infections.

Retinal dystrophy is not one single condition but the general name given to a wide range of eye conditions (for example, Retinitis Pigmentosa). ‘Dystrophy’ means a condition that a person is born with, ‘retinal’ means relating to the retina – the light sensitive film at the back of the eye. Most retinal dystrophies are genetic.

A knee joint cartilage defect is an area of damaged cartilage on any of the surfaces of the knee joint, which include the thigh bone (femur), shinbone (tibia), and kneecap (patella). These cartilage defects are also called osteochondral defects.

is a specific form of severe combined immunodeficiency (SCID). It is inherited as an autosomal recessive condition. This means that a child has to inherit the faulty gene from both parents to have the condition.

is characterised by a loss or deficiency of stem cells in the limbus, which is the part of the eye that generates new cells for the cornea, causing pain and reduced sight.

is when melanoma cells spread from where they started (in the skin) to other parts of the body. Melanoma cells can travel through the blood or the lymphatic system. When the cells reach another part of the body, they may begin to grow and form another tumour. This is called a secondary melanoma or a metastasis.