A team of international researchers led by Professor Jean-Charles Lambert, research director at France’s National Institute of Health and Medical Research at Inserm has identified 75 regions of the genome that are associated with Alzheimer’s disease, in the largest study of genetics in the neurodegenerative disease to date.

The study, New Insights into the Genetic Etiology of Alzheimer’s Disease and Related Dementias published in Nature Genetics, used the genomes of 100,000 people with Alzheimer’s along with the genomes of 600,000 healthy individuals.

The study has identified 42 new genes that appear to be connected to the disease, increasing the total number linked to Alzheimer’s to 75. The discovery has the potential to open up new channels of research for diagnosis and treatments.

Alzheimer’s disease is a chronic neurodegenerative disorder and is the most common form of dementia, affecting more than 26 million people worldwide. There is no treatment available to prevent the progressive course of the condition, but progress in human genome analysis is leading to further advances in this area.

The researchers created a genetic risk score that could predict which patients will develop Alzheimer’s within three years. The disease, which typically develops after the age of 65, has a strong genetic component. Many cases are believed to be caused by the interaction of different genetic predisposition factors with environmental factors, such as diet and lifestyle.

The European Federation of Pharmaceutical Industries and Associations (EFPIA) member companies have pledged to increase the availability of innovative medicines throughout the EU, with the measures also set to decrease the time patients wait for new medicines by several months.

Pursuant to local authorisations, EFPIA firms have committed to file for pricing and reimbursement in all EU countries as soon as possible – no later than two years from central EU market authorisation.

Typically, patients in Germany wait 133 days to access new medicines, compared to patients in Romania, who wait for 899 days. Significant disparities also occur in terms of innovative medicines’ availability, with less than 30% of centrally approved products available in smaller and Eastern European member states, compared with 92% in Germany and 46% on average in the European Union.

Forecasts by IQVIA suggest that the commitment would increase the availability of medicines from 18% to 64% in several countries. Critically, the modelling also estimates that there would be a significant reduction in the time patients wait for new medicines by up to five months in several countries, such as Bulgaria, Poland and Romania.

An online portal has been launched to enable marketing authorisation holders to provide timely information regarding the processing of pricing and reimbursement applications in the EU-27 countries.

After a comprehensive review of its strategic priorities, gene therapy specialist bluebird bio has announced that it is initiating a comprehensive restructuring intended to deliver up to $160m in cost savings over the next two years.

The company intends to increase its focus on near-term projects – including anticipated FDA approvals for beta-thalassemia and cerebral adrenoleukodystrophy gene therapies.

bluebird bio plans to maintain targeted research efforts focused on ex vivo lentiviral vector (LVV) gene therapy while deprioritising direct investments in reduced toxicity conditioning and cryopreserved apheresis.

This significant shift is expected to reduce the company’s outgoings in 2022 to less than $340m, with a 35-40% reduction in operating costs anticipated by the end of 2022, which is expected to be reflected in bluebird’s operating budget for 2023. As part of the changes, bluebird bio also plans to reduce its workforce by approximately 30%.

If approved, betibeglogene autotemcel (beti-cel) for beta-thalassemia and elivaldogene autotemcel (eli-cel, Lenti-D) for cerebral adrenoleukodystrophy will be the first ex vivo LVV gene therapies available in the US.

The FDA has set PDUFA goal dates of August 2022 for beti-cel and September 2022 for eli-cel. The therapies are expected to be reviewed in consecutive FDA advisory committee meetings tentatively scheduled for June 2022.

Novartis has revealed its plans for a new organisational structure. Key to the restructure is the integration of the pharmaceuticals and oncology business units, which will be split into two separate commercial organisations – Innovative Medicines US and Innovative Medicines International.

The new model focuses on Novartis’ central therapeutic areas of cardiovascular, haematology, solid tumours, immunology and neurosciences.

Novartis will also create a new strategy and growth function to combine corporate strategy, R&D portfolio strategy and business development, to strengthen its drug pipeline.

As part of the restructure, new appointments have been made. Marie-France Tschudin – currently president of Novartis Pharmaceuticals – has been appointed as president of innovative medicines international and chief commercial officer (CCO). Victor Bulto – currently head of US Pharmaceuticals – will be appointed as president of innovative medicines US.

Novartis has also appointed Dr Shreeram Aradhye as president of global drug development and chief medical officer.

The company will also integrate its technical operations and customer and technology solutions units to create a new operations unit, which will provide a simpler operational core that can accelerate multiple technology transformation initiatives more efficiently. Steffen Lang, who currently serves as global head of Novartis technical operations, will become president of operations.