Blog

On this International Women’s Day, we look at some of the ways in which the environment for women in the workplace has changed in the last five years. Firstly, there has been slow but positive progress in gender diversity in senior leadership roles over that time.  In 2018, the proportion of senior roles held by […]

Urea Cycle Disorders are a group of inherited diseases that causes a deficiency in one of the enzymes involved in the urea cycle.  Each sub-type of the disorder group is named after the particular enzyme that is deficient. The urea cycle converts the nitrogen which is a waste product of protein metabolism into ammonia in […]

Idiopathic Pulmonary Fibrosis (IPF) has an estimated prevalence of 13 to 20 per 100,000 people worldwide* and is a condition that typically affects people between the age of 50 and 70.  It is rarely seen in those under 50 years of age.  Symptoms of the condition develop gradually and can include a persistent dry cough, […]

More than 70,000 children and adults are affected by Cystic Fibrosis (CF) worldwide.*  Cystic Fibrosis is a progressive, inherited disease which causes the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Protein to become dysfunctional.  This results in the protein being unable to move chloride to the cell surface with the consequence that the cell is then […]

Many thousands of new drugs are developed every year. Before these can be administered by doctors and hospitals, they must undergo a thorough development and testing process. Drug development (also known as pharmaceutical product development) is a lengthy process, involving several important steps to ensure the drug is effective, safe and beneficial. It takes several […]

Huntington’s Disease is a genetically inherited disorder which affects the nervous system, causing progressive changes in movement, learning, thinking and emotions. It affects both men and women and although it is not prevalent in any specific population, Huntington’s Disease affects between 3 and 7 in 100,000 people of European ancestry globally*, making it a rare […]

Niemann-Pick Disease is a genetic disorder caused by autosomal recessive mutations in genes relating to lipid metabolism. The condition presents in childhood as a progressive inability to metabolise fats within cells, resulting in a build-up of fat within the cells.  Over time this causes progressive developmental and neurological problems. Many organs can be affected including […]