Category: Blog

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…

Karen McCusker, Associate Director in Marketing at Simbec-Orion, speaks to Dr Debra Davies and Romillie Cruz at Simbec-Orion on their experience of being women in science. I’m not sure where my interest in medicine came from or when it started. I often wonder if it was something to do with being diagnosed with asthma as…

Clinical trials involve a series of studies that test the safety and effectiveness of drugs and other medical treatments. To ensure research is carried out thoroughly and safely, there are several different stages of clinical trials. In order to make sure the treatment is safe and effective for use in patients, it must successfully pass…

Pharmacovigilance is concerned with detecting the possible risks associated with a drug or treatment. Risks are monitored and assessed throughout the development and post-market phase. The aim of this is to determine the safety profile of the drug, identifying any potential adverse reactions and side effects that the drug may cause. Additionally, any beneficial reactions…

In previous years, pharmacology and clinical trials were topics which mainly interested medical professionals, rather than the public. However, as a result of the COVID-19 pandemic, there has been a growing interest in clinical trials, alongside the development of the vaccine. As a global community, we have been  able to see the development, testing, and…