Fertility
Genetic test uncovers risk of inherited breast cancer
A new gene-editing method can now determine whether certain genetic mutations raise a woman’s risk of breast and ovarian cancer.
The technique helps resolve a long-standing issue in genetic testing, where many patients receive inconclusive results showing “variants of unknown significance” – genetic changes that cannot be clearly linked to cancer risk.
Using the method, researchers have now classified 54 previously unconfirmed variants of the BRCA2 gene, identifying which ones are linked to disease and which are not.
Maria Rossing is clinical research associate professor at the University of Copenhagen’s Department of Clinical Medicine and chief physician at Rigshospitalet.
She said: “If we know a patient has a pathogenic mutation, we can intervene before the cancer has a chance to develop.
“For those already affected by the disease, we can treat them faster and more precisely. In the long run, this will save lives.”
The BRCA2 gene normally helps repair DNA damage. Mutations in this gene are known to increase the risk of several cancers, including breast, ovarian, pancreatic and prostate.
But until now, women carrying uncertain variants have often been unable to access appropriate preventive care.
The technique, developed by the University of Copenhagen and Rigshospitalet, uses CRISPR-Select – a form of gene-editing – to alter DNA in lab-grown cells and track how they respond to chemotherapy drugs.
The classification results are being added to international databases used by clinicians worldwide.
Rossing said: “It’s uncharted territory.
“Until now, we’ve only been able to inform patients that they have a mutation of unknown significance, and treating physicians haven’t been able to use that information in clinical decision-making.”
Women found to carry harmful variants can now be offered more targeted care, such as early screening or preventive surgery.
Rossing added: “When we can provide an accurate diagnosis, we can offer targeted treatment.
“For women who carry a disease-causing variant, we can offer preventive care through early detection and prophylactic surgery.
“But we can’t do that unless we know for sure whether a mutation leads to disease,” Rossing said.
The method combines gene-editing developed at the University of Copenhagen’s Biotech Research and Innovation Center with clinical testing at Rigshospitalet’s Department of Genomic Medicine.
Rossing said: “When researchers or doctors anywhere in the world search for these 54 variants in the databases, they’ll see our classification.
“This has implications far beyond Danish patients,”
Researchers hope the method will be used more widely to help classify thousands of other unknown variants, improving how hereditary cancer risk is assessed worldwide.
Insight
IVFmicro raises £3.5m to boost IVF success
IVFmicro has raised £3.5m to advance its microfluidic device designed to improve IVF success rates in routine clinic use.
The Leeds-based spinout from the University of Leeds, founded in 2024, aims to increase the quality and number of embryos in an IVF cycle.
IVF, or in vitro fertilisation, combines eggs and sperm in a lab before transferring embryos to the womb. A microfluidic device is a chip with tiny channels that move very small volumes of fluid.
The company says its device could raise the number of viable embryos available for transfer and the likelihood that an embryo will implant.
Currently, IVF leads to a successful pregnancy in about 30 per cent of cases for women under 35. A single cycle typically costs around £5,000 in the UK.
“My career has focused on understanding the reproductive biology of eggs and embryos, how they develop and, crucially, why things sometimes go wrong,” said IVFmicro co-founder and scientific director Helen Picton.
“At IVFmicro, we are harnessing years of research into reproductive biology to create a practical, accessible solution that can improve outcomes for patients undergoing fertility treatment. Our goal is to make IVF more effective, more predictable, and ultimately more hopeful for those striving to start a family.”
The investment was led by Northern Gritstone, with support from Innovate UK’s Investment Partnership Programme.
“IVFMicro is a brilliant example of the world-class innovation emerging from the Northern Arc’s universities, combining scientific excellence with a clear commercial vision to tackle the societal challenge of infertility,” said Northern Gritstone chief executive Duncan Johnson.
“Millions worldwide require fertility treatment, but new solutions are needed to overcome the high costs involved and low success rates. We are especially proud that IVFMicro’s journey has been supported through our NG Studios programme and our Innovation Services, which exist to help founders like Virginia and Helen turn pioneering research into real-world impact.”
Features
University of Leeds IVF spinout raises £3.5m
University of Leeds IVF spinout IVFmicro has raised £3.5m in pre-seed funding.
The investment is led by Northern Gritstone, with support from Innovate UK Investor Partnerships Programme, and will be used by IVFmicro for its next verification and validation phase, leading to trials on human embryos in fertility clinics.
Helen Picton is scientific director and co-founder of IVFmicro.
She said: “My career has focused on understanding the reproductive biology of eggs and embryos, how they develop and, crucially, why things sometimes go wrong.
“At IVFmicro, we are harnessing years of research into reproductive biology to create a practical, accessible solution that can improve outcomes for patients undergoing fertility treatment.
“Our goal is to make IVF more effective, more predictable, and ultimately more hopeful for those striving to start a family.”
Globally, 1 in 6 couples will face fertility issues, yet IVF success rates are suboptimal, with only 25-30 per cent succeeding in women under 35 years of age.
This is due in part to limitations of the embryo culture process, which typically involves repetitive handling, subjective selection of the best embryo, and the expense of highly skilled operators.
IVF is an expensive process, costing on average £5,000 for a patient in the UK for one cycle, accompanied by long NHS waiting lists that have selective criteria.
IVFmicro provides the first microfluidic device (a device for safely managing embryo culture and handling with very small amounts of nutrient-rich fluid) that can be used in any IVF treatment cycle.
This precision-engineered solution improves both the number of viable embryos available for transfer and the likelihood that an embryo will implant and result in a pregnancy.
IVFmicro provides a 10-15 per cent improvement in embryo quality and quantity, a significant leap that increases the potential to fall pregnant.
IVFmicro was founded in 2018 by Virginia Pensabene, Ph.D, and Helen Picton, Bsc, Ph.D., both professors at the University of Leeds.
Pensabene has published scientific advancements in microfluidics and brings her technical and scientific expertise to the product design.
Picton is a non-clinical expert in female reproductive biology and embryology, and has generated over £8m in research grant income.
IVFmicro recently took part in the NG Studios life sciences programme, which supports pre-seed life science businesses, and is delivered by accelerator KQ Labs, the Francis Crick Institute, and Northern Gritstone.
Virginia Pensabene, CEO and co-founder, IVFmicro, said: “As a biomedical engineer, I began exploring the potential of this technology in 2017, when Helen and I first met at the University of Leeds.
“From the start, our goal was to translate our research into a real solution for patients.
“Thanks to the combination of grant funding and Northern Gritstone’s support — both through investment and its innovation programmes — we have been able to grow our team in Leeds and take a major step toward bringing this precision-engineered IVF solution to market.”
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