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The European Union's health regulator on Friday said it had recommended granting a conditional marketing authorisation for a gene therapy by Australian drugmaker CSL Ltd and partner uniQure N.V. , to treat haemophilia B, a rare bleeding disorder which is caused by genetic anomalies. About one in 40,000 people are affected by the inherited disorder, caused by a gene mutation that hampers the body's ability to make clotting protein factor IX. If approved, the treatment, branded Hemgenix, will be the first gene therapy in the European Union for the condition that is usually treated by regular injections of factor IX, the European Medicines Agency said. CSL had acquired exclusive global rights to Hemgenix in May last year from uniQure N.V.

Capitalising on strong demand for its obesity therapies, Novo Nordisk's growing appetite for deals has fuelled a bet on a U.S. gene-editing company called Life Edit Therapeutics. The Danish drugmaker's collaboration with Durham, North Carolina-based Life Edit Therapeutics - owned by ElevateBio, a cell and gene therapy company in Waltham - is focused on up to seven programs for rare genetic disorders as well as cardiometabolic diseases. At the heart of the tie-up is Life Edit's technology, called base editing, which is designed to make precise changes to the human genome by tweaking one base - or letter - into a different one without affecting other letters. Single-letter mistakes, called point mutations, can give rise to genetic diseases.

Scientists have found a mutation in stem cell genes, which they claim could be linked to development of leukaemia and other cancers. An international team, led by Peter Papathanasiou of The Australian National University, has completed a three-year screening project to find the genes that control development and turnover of stem cells. Stem cells can grow into any other kind of cell in the body, making them a hot area of research to find new treatments for diseases and injuries

'Tepotinib' has been recommended by the National Institute for Health and Care Excellence (NICE) to patients with a specific gene mutation of advanced non-small-cell lung cancer (NSCLC). The new potentially life-extending drug is available from Thursday (14 April). It has been recommended for routine use across the NHS in England through Project Orbis, a programme to review and approve promising cancer drugs helping patients access treatments faster. NICE has published its final appraisal document recommending tepotinib (also known as Tepmetko and produced by company Merck Serono Ltd) as an option for treating advanced NSCLC with METex14 skipping gene alterations in adults. People with METex14 skipping alterations of NSCLC make up between 1-2% of all adults with lung cancer in England. Tepotinib, which requires people to take two tablets once daily, provides a new targeted treatment for adults with METex14 skipping gene alterations. Just over 700 people in England would be eligible to receive tepotinib as either a first or second-line treatment.

NHS England is set to roll out a new test this week that will help doctors to spot a rare form of eye cancer in babies in the womb. The NHS test developed at Birmingham Women's and Children's NHS Foundation Trust, identifies the risk of developing retinoblastoma in babies that can be monitored and treated sooner - increasing the chance of saving their eyesight and potentially their lives. The new non-invasive test can detect changes in the genes in DNA and is likely to identify around 50 infants with retinoblastoma each year, in the latest example of the NHS harnessing the power of genomics to diagnose and treat patients faster and more effectively. Non-Invasive Prenatal Diagnosis (NIPD) also means parents can be informed early in pregnancy if their child is at risk. "The blood sample test is taken from the mother before birth and tested and analysed for mutations, which can determine with almost 100 per cent accuracy if the baby will develop retinoblastoma," the NHS said.

The drug, alpelisib, which is the 100th cancer drug that has being fast-tracked to patients under the NHS Cancer Drugs Fund (CDF) will be used in combination with the hormone therapy, fulvestrant, to target the gene that causes fast-growing tumours. Up to 3,000 people a year with a certain type of secondary breast cancer will benefit from the treatment. The approach has contributed to people in England having access to nearly one third more cancer drugs compared to the European average. The drug which is manufactured by pharmaceutical company Novartis, is part of a growing number of precision treatments that target a tumour based on mutations in its DNA and that the NHS is rolling out. John Stewart, NHS National Director for Specialised Commissioning said, "In just over five years, more than 80,000 people have benefitted from earlier access to a range of cancer drugs, with people in England having access to nearly one third more cancer drugs compared to the European average, and this latest innovative new treatment will help up to 3,000 more to live a better quality of life.