Professor Sadaf Farooqi, Professor of Metabolism and Medicine at University of Cambridge and NIHR Cambridge BRC theme lead for Nutrition, Obesity, Metabolism and Endocrinology, was announced as the winner of the new ‘Endocrinology Across the Life Course Award’ on Saturday 10th May 2025. 

The award ceremony, which formed part of the opening session of the Joint Congress of European Society for Paediatric Endocrinology (ESPE) and the European Society of Endocrinology (ESE) 2025 ‘Connecting Endocrinology Across the Life Course’ took place in Copenhagen, Denmark,

The inaugural Joint ‘Endocrinology Across the Life Course Award’ presented to Professor Sadaf Farooqi, is a prestigious recognition awarded to a clinician or basic scientist who has made a significant contribution to endocrinology across the life course. Nominations were judged by the Joint Scientific Programme Committee for the Joint Congress.

Professor Sadaf Farooqi is based at the Institute of Metabolic Science and is a Consultant Physician in Endocrinology at Addenbrooke’s Hospital in Cambridge, UK.

She was educated at the University of Birmingham where she studied Medicine, and was awarded a Bachelor of Medicine, Bachelor of Surgery degree with Distinction in 1993. After junior hospital posts in Birmingham and Oxford, she moved to the University of Cambridge, where she was awarded a PhD in 2001 for research on the genetics of severe childhood obesity.

During her career as a Clinician Scientist, Sadaf Farooqi has made fundamental contributions to the discovery and understanding of mechanisms that control human eating behaviour and energy homeostasis. Her work has changed attitudes towards people with severe obesity by demonstrating its biological basis. By defining human genetic obesity syndromes and their physiological consequences, her research has changed the investigation, management and, in several cases, the treatment of children and adults with severe obesity

She has published over 200 papers in the field and has been elected as a Fellow of the Royal Society in recognition of her contributions to science.

Professor Farooqi delivered a lecture on “Obesity: from molecules to medicine” during the Joint Congress Opening Ceremony, before being presented with the Award.

Sadaf commented

“I am deeply honoured to receive this award in recognition of our team’s work. Over the last two decades, we have learned that obesity is an endocrine disease. I look forward to working with my colleagues and members of both Societies to harness that knowledge to deliver treatments which improve the lives of children and adults with obesity”

Further information about the Joint Congress 2025 can be found on the Joint Congress 2025 website 

A study funded by the Myrovlytis Trust and supported by NIHR Cambridge BRC has found that as many as one in 3,000 people could be carrying a faulty gene that significantly increases their risk of a punctured lung. Previous estimates had put this risk closer to one in 200,000 people.

The gene in question, FLCN, is linked to a condition known as Birt-Hogg-Dubé syndrome, symptoms of which include benign skin tumours, lung cysts, and an increased risk of kidney cancer.

In a study published today in the journal Thorax, a team from the University of Cambridge examined data from UK Biobank, the 100,000 Genomes Project, and East London Genes & Health – three large genomic datasets encompassing more than 550,000 people.

They discovered that between one in 2,710 and one in 4,190 individuals carries the particular variant of FLCN that underlies Birt-Hogg-Dubé syndrome. But curiously, whereas patients with a diagnosis of Birt-Hogg-Dubé syndrome have a lifetime risk of punctured lung of 37%, in the wider cohort of carriers of the genetic mutation this was lower at 28%. Even more striking, while patients with Birt-Hogg-Dubé syndrome have a 32% of developing kidney cancer, in the wider cohort this was only 1%.

Punctured lung – known as pneumothorax – is caused by an air leak in the lung, resulting in painful lung deflation and shortness of breath. Not every case of punctured lung is caused by a fault in the FLCN gene, however. Around one in 200 tall, thin young men in their teens or early twenties will experience a punctured lung, and for many of them the condition will resolve itself, or doctors will remove air or fluid from their lungs while treating the individual as an outpatient; many will not even know they have the condition.

If an individual experiences a punctured lung and doesn’t fit the common characteristics – for example, if they are in their forties – doctors will look for tell-tale cysts in the lower lungs, visible on an MRI scan. If these are present, then the individual is likely to have Birt-Hogg-Dubé syndrome.

Professor Marciniak is a researcher at the University of Cambridge and an honorary consultant at Cambridge University Hospitals NHS Foundation Trust and Royal Papworth Hospital NHS Foundation Trust. He co-leads the UK’s first Familial Pneumothorax Rare Disease Collaborative Network, together with Professor Kevin Blyth at Queen Elizabeth University Hospital and University of Glasgow. The aim of the Network is to optimise the care and treatment of patients with rare, inherited forms of familial pneumothorax, and to support research into this condition.

Professor Marciniak said: “If an individual has Birt-Hogg-Dubé syndrome, then it’s very important that we’re able to diagnose it, because they and their family members may also be at risk of kidney cancer.

“The good news is that the punctured lung usually happens 10 to 20 years before the individual shows symptoms of kidney cancer, so we can keep an eye on them, screen them every year, and if we see the tumour it should still be early enough to cure it.”

Professor Marciniak says he was surprised to discover that the risk of kidney cancer was so much lower in carriers of the faulty FLCN gene who have not been diagnosed with Birt-Hogg-Dubé syndrome.

“Even though we’ve always thought of Birt-Hogg-Dubé syndrome as being caused by a single faulty gene, there’s clearly something else going on,” Professor Marciniak said. “The Birt-Hogg-Dubé patients that we’ve been caring for and studying for the past couple of decades are not representative of when this gene is broken in the wider population. There must be something else about their genetic background that’s interacting with the gene to cause the additional symptoms.”

The finding raises the question of whether, if an individual is found to have a fault FLCN gene, they should be offered screening for kidney cancer. However, Professor Marciniak does not believe this will be necessary.

“With increasing use of genetic testing, we will undoubtedly find more people with these mutations,” he said, “but unless we see the other tell-tale signs of Birt-Hogg-Dubé syndrome, our study shows there’s no reason to believe they’ll have the same elevated cancer risk.”

• Yngvadottir, B et al. Inherited predisposition to pneumothorax: Estimating the frequency of Birt-Hogg-Dubé syndrome from genomics and population cohorts. Thorax; 8 April 2025; DOI: 10.1136/thorax-2024-221738.