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The molecules that silence a woman’s second X chromosome can confuse the immune system, a new study suggests.Women are much more likely than men to have their immune system turn against them, resulting in an array of so-called autoimmune diseases, like lupus and multiple sclerosis. A study published on Thursday offers an explanation rooted in the X chromosome.The research, published in the journal Cell, suggests that a special set of molecules that act on the extra X chromosome carried by women can sometimes confuse the immune system.Independent experts said that the molecules are unlikely to be the sole reason autoimmune disease skews female. But if the results hold up in further experiments, it might be possible to base new treatments on these molecules, rather than on the current drugs that blunt the entire immune system.“Maybe that’s a better strategy,” said Dr. Howard Chang, a geneticist and dermatologist at Stanford who led the new study.Male and female embryos carry 22 identical pairs of chromosomes. The 23rd pair is different: Females carry two Xs, while males carry an X and a Y, which lead to the development of male sex organs.Each chromosome holds genes that, when “switched on,” produce proteins to do work inside of cells. You might expect that women, with two copies of X, would make twice as many X proteins as men do. Instead, they produce about the same level. That’s because one of the two X chromosomes is silenced.We are having trouble retrieving the article content.Please enable JavaScript in your browser settings.Thank you for your patience while we verify access. If you are in Reader mode please exit and log into your Times account, or subscribe for all of The Times.Thank you for your patience while we verify access.Already a subscriber? 

Published42 minutes agoShareclose panelShare pageCopy linkAbout sharingImage source, Broadcast RevolutionBy Shannon SameckiBBC News, NottinghamA new drug for people with a severe form of blood cancer has been approved for use.Blood cancer is the fifth most common cancer and the third leading cause of cancer-related death in the UK.Epcoritamab is for patients with diffuse large B-cell lymphoma (DLBCL) which has returned or not responded to other treatments.Prof Chris Fox, from the University of Nottingham, said it was good news for patients and the clinical community.DLBCL is an aggressive blood cancer, with nearly 5,500 new diagnoses in the UK each year. For about 700 of these patients who have the severest form of the disease, the limited options were based around intravenous drugs.Epcoritamab is a simpler injection, which stimulates the body’s immune system to attack the cancer cells.Image source, Getty ImagesJane Thacker, from Mansfield in Nottinghamshire, was diagnosed with blood cancer in 2006.The 79-year-old said: “I found a pea-sized lump across my eyelid. I had no other symptoms, so the doctors weren’t worried, but the optician referred me back to the GP and eventually I had the lump surgically removed. “The lump revealed I had an aggressive form of blood cancer called DLBCL. I wondered if I’d live to see any grandchildren.”Ms Thacker relapsed four times but said she was now in remission thanks to the new treatment and was back to being her “energetic self”.Prof Fox, from the university’s school of medicine, said: “Despite recent therapeutic advances, treatment options for this hard-to-treat group of patients have been limited. “This can mean many patients do not have suitably effective treatment options, resulting in a poor prognosis. “The decision by NICE [the National Institute for Health and Care Excellence] will be welcomed by both patients and the clinical community.”Rincy George, policy officer at the charity Blood Cancer UK, also welcomed NICE’s decision, describing it as “a welcome step for many”.Follow BBC East Midlands on Facebook, on X, or on Instagram. Send your story ideas to eastmidsnews@bbc.co.uk.More on this storyTherapy dog enjoys retirement partyPublished1 day agoBoy designs game character after cancer recoveryPublished19 July 2023Robot snake could be used in cancer surgeryPublished21 January 2023Related Internet LinksBlood Cancer UKNHSNICE – The National Institute for Health and Care ExcellenceThe BBC is not responsible for the content of external sites.

Published28 minutes agoShareclose panelShare pageCopy linkAbout sharingImage source, Getty ImagesBy Jim ReedHealth reporterThe number of people in hospital with flu and norovirus has hit a new winter high in England. Latest NHS figures show 2,226 beds were taken up by flu patients each day last week, up 70% in a month.But the number in hospital with Covid dipped slightly, and surveillance from the UK Health Security Agency (UKHSA) showed rates were “broadly stable”. The NHS said the data showed it was still “in the thick of a challenging winter”.”Last week was evidence of why the NHS needed to grow its core bed numbers,” said Prof Julian Redhead, NHS England’s clinical director for urgent and emergency care. The NHS said this month that it had met its target to increase the number of core hospital beds in England by 5,000 to 99,864. But the latest data shows 96% of adult beds were still full last week, above the 85% level seen as safe by the World Health Organization. NHS performance figures also showed that 34% of hospital patients in England arriving by ambulance in the week to 18 January had to wait more than 30 minutes to be handed over to A&E doctors.That was up from 32% in the previous week, and the joint highest rate so far this winter.It comes as a number of hospitals, including Shrewsbury, Winchester and Stoke have declared critical incidents recently because of “sustained pressure” on services, allowing them to request assistance from neighbouring NHS trusts.

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Flu and norovirus surgeThe latest figures show the winter flu season appears to have come later this year with the number needing hospital treatment continuing to rise.Common symptoms in adults include a sudden high temperature, aches, a dry cough and a sore throat. Some people also feel sick and report diarrhoea or stomach pain. The symptoms are similar in children, but they can also suffer from ear pain and appear less active.An average of 2,226 patients were in hospital each day last week with flu, including 84 in critical care beds, according to NHS England.The total is up 41% from 1,582 the previous week and up 70% from the start of the year.The NHS is urging those eligible for a free flu jab this winter, including all those over 65 years old, to continue to come forward. Another 688 hospital beds in England were filled last week by people with norovirus-like symptoms such as diarrhoea and sickness.The virus – known as the winter vomiting bug – spreads easily through contaminated surfaces or contact with an infected person. Covid hospitalisations dip slightlyThe number of people in hospital with Covid in England declined slightly, with an average of 3,701 beds occupied over the past week in large NHS trusts.Of that number, just over a quarter – or 1,013 – were being treated “primarily” for the virus, with the majority admitted to hospital for another health problem.A separate study from researchers at UKSHA suggested that the number of people testing positive for Covid in the community as a whole remained steady in the two weeks to 24 January. Analysis of lateral flow tests indicated that about 2% – or one in every 50 people – would have tested positive for the virus in England and Scotland, compared to 2.3% in its previous report.More on this storyFlu is the major player now, not Covid – virologistPublished4 JanuaryMore jabs to be booked online in NHS uptake drivePublished13 December 2023

Published22 hours agoShareclose panelShare pageCopy linkAbout sharingBy Marie-Louise ConnollyBBC News NI health correspondentWomen waiting too long for NHS gynaecological treatments end up having potentially avoidable major surgery, a retired teacher has said.Anne Donnelly, 43, had an operation for endometriosis two years ago and is awaiting physiotherapy.A major review of gynae services said health trusts need to re-prioritise those waiting over a year for surgery. The Department of Health said the report recognised “unacceptably high” waiting times.It added that the department would work to progress the recommendations, but that some will require “additional investment” which could impact delivery. ‘Debilitating pain restricted my life’The review found that more than 37,000 women were on hospital waiting lists in Northern Ireland with 5% of those waiting nearly three years for treatment.Anne Donnelly, from County Tyrone, was diagnosed with endometriosis at the age of 22, after years of attending various GPs, specialists and a psychologist.”I went from being a bubbly, active, outgoing 15-year-old to overnight having a debilitating pain that restricted my life and eventually led to me abandoning sport and Irish dancing. Endometriosis takes over every part of your life. “It is excruciatingly painful, it is like someone is sticking a knife into you; it takes the breath from you. I’m still shocked that we have to fight seven, eight, nine, 10 years before we are taken seriously,” Anne said. She said women feel “abandoned” by the NHS, with some having their bowels or womb removed as disease, such as hers, spreads.Image source, SDI ProductionsThe review of gynaecology was conducted by the Getting it Right First Time (GIRFT) team, an external organisation on behalf of the NHS.The team spent a week last year visiting the five Northern Ireland health and social care trusts.Dysmenorrhoea, endometriosis, incontinence, hysterectomy, prolapse and urinary tract infections are among the conditions covered by gynae services.Waiting lists for these conditions are the worst in Northern Ireland and also when compared to similar lists in other parts of the UK.The review recommends:The Department of Health should promote a single trust gynaecological patient tracking list.All five health trusts should “urgently develop an improvement strategy” for waiting lists. Planned surgery must become “resilient” so it does not “shut down” during the winter months. Outpatient procedures and day case gynae surgery should be focussed at Mater, Lagan Valley, Daisy Hill, Causeway, Omagh and South West Acute (SWAH) hospitals. Image source, PacemakerWhat have the trusts to do?The review makes recommendation for each health trust.Among Belfast’s 18 recommendations was that it should “urgently develop an improvement strategy to address the outpatient and surgical waiting lists and include the introduction of a surgical robotic programme, similar to what exists in England”. It added that an action plan should be developed within one month of receiving the report. Women in NI ‘not getting good deal”Life-changing’ drug offers endometriosis hopeWATCH: ‘Doctors would tell me it’s in my head’The Southern Health Trust was advised to open a dedicated female surgical ward for gynaecology, breast, and female urology patients with a minimum of two protected beds for each specialty.In relation to the Northern Trust, the report suggested promoting the Causeway Hospital’s gynaecology unit as the main elective day case hub. There were 17 recommendations for the Western Trust, including creating a dedicated gynaecology/women’s health unit and to commission an abortion MVA service. It also noted action was needed to resolve the “issue of Swah consultants leaving” for the Southern Trust. In the South Eastern Trust, the suggestions included a need to develop Rapid Access Gynaecology Clinic for 10 sessions per week. What of maternity services?Earlier this year, the Department of Health confirmed the decision to permanently move maternity services from Causeway to Antrim Area Hospital.The report suggested a similar consideration be made to maternity services at Swah and Daisy Hill, where “a similar move to centralise services would free up clinical time and space for other elective women’s services”.Anne Donnelly is now awaiting an MRI and physiotherapy treatment.She said in the past 30 years, little has changed around gynaecological services. Like most women in her position, she was told that painful periods were “normal”. “We are ignored and it’s not good enough anymore, I am still facing the same discrimination because I am a woman, I am still facing the same comments about periods and endometriosis,” Anne said.”How can a young woman, at 43 with three kids, a teacher be left abandoned by the NHS and the government because we didn’t have a government or leaders making decisions?” she said.More on this story’Appalling’ gynaecology waits under rapid reviewPublished31 May 2023Women lose challenge over hospital waiting listsPublished9 January 2023Surgery delay ‘damaged chances of having children’Published25 October 2022

The NewsThe Biden administration announced on Thursday that it was sending initial offers to the makers of the first 10 prescription drugs that have been selected for price negotiations with Medicare under a landmark federal program intended to reduce drug spending.The Biden administration has selected 10 medicines for price negotiations, including Farxiga, a drug from AstraZeneca for diabetes, heart failure and chronic kidney disease.George Frey/ReutersWhy It Matters: The price offers kick off negotiations.The medicines selected for negotiations are taken by millions of Americans to treat conditions like diabetes, cancer and heart disease. The administration identified them in August, beginning a lengthy process intended to result in an agreed-upon price that would take effect in 2026, assuming the negotiation program survives legal challenges.The initial round of price offers is a key step in the negotiation process. Each drugmaker has until early March to accept the offer or propose a counteroffer to the government. A series of negotiation sessions could follow, with the process set to conclude by August.Health policy experts said the announcement of the initial round of offers amounted to a kind of starting gun, giving the Biden administration the chance to take an aggressive posture and test the willingness of drugmakers to acquiesce.The proposals help in “setting the tone for the rest of this back and forth,” said Andrew W. Mulcahy, a health economist at the RAND Corporation who has advised the Biden administration on the implementation of the drug price negotiations.The administration did not publicly reveal how much it was offering for each drug.What Happens Next: The courts still have to weigh in.The price negotiation program was created by the Inflation Reduction Act, the climate, tax and health care package that President Biden signed into law in 2022. Additional medications will be chosen for price negotiations in the coming years. The program is expected to save the federal government nearly $100 billion over a decade.The price negotiation program is a key component of the White House’s efforts to lower everyday costs for Americans, and it is a policy that Mr. Biden can point to as he campaigns for re-election.“Medicare is no longer taking whatever prices for these drugs that the pharmaceutical companies demand,” Mr. Biden said in a statement on Thursday.But the pharmaceutical industry is hoping that the courts will step in to shut down the program, which drugmakers say is unconstitutional. The industry has long argued that allowing the government to negotiate prices will curtail private innovation and discourage companies from developing new drugs.Lawsuits filed by drugmakers, the industry’s main trade group and the U.S. Chamber of Commerce remain ongoing in courts around the country. A federal judge in Delaware heard arguments on Wednesday in a case brought by AstraZeneca, the maker of a diabetes drug that was selected for price negotiations.

Published28 minutes agoShareclose panelShare pageCopy linkAbout sharingImage source, Getty ImagesBy Richard WarryBBC NewsGene therapy has transformed the lives of people with a genetic disorder that causes painful and unpredictable swelling attacks.Angiodema, thought to affect 50,000 people worldwide, can be seriously debilitating, affect airways, and occasionally prove fatal.Patients treated with a single dose of gene therapy Crispr-Cas9 showed little sign of further symptoms.The therapy also has big potential as a treatment for other genetic conditions.”It looks as if the single-dose treatment will provide a permanent cure for my hereditary angioedema patients’ very disabling symptoms,” principal investigator Dr Hilary Longhurst, a clinical immunologist at Auckland hospital, said.Gene editing technique could transform futureUK approves gene-editing drug for sickle cellAngiodema causes swelling in the soft tissues and can affect many parts of the body.Cleveland Firman, from Suffolk, who received the treatment in the UK said: “The randomness, unpredictability and potential severity of the attacks has made trying to live my life almost impossible. I spent my life constantly wondering if my next attack would be severe.This video can not be playedTo play this video you need to enable JavaScript in your browser.”The swellings are painful and disfiguring. I was embarrassed to go out in case of an attack. I’ve been hospitalised with swellings on my neck and throat that have affected my ability to breathe.”Since the treatment, I’ve not had a single attack. I’ve had a radical improvement in my physical and mental wellbeing. “I am very positive about the future. I am now volunteering where I can meet like-minded people. The freedom has opened up my world and improved my self-confidence.”Single infusionCrispr-Cas9 targets flaws in the DNA of genes. It scans DNA for the right spot and then, like a microscopic pair of scissors, cuts it in two. However, the edits are not always perfect and the cuts can end up in the wrong place.In the trial, published in the New England Journal of Medicine, angiodema symptoms were reduced by 95% among a small group of patients from the UK, New Zealand, and the Netherlands given a single infusion – targeted at cells in the liver – to reduce the KLKB1 gene’s ability to produce plasma prekallikrein.Image source, Cambridge University HospitalJust one of the patients continued to show symptoms, which were only minor.Dr Padmalal Gurugama, who led the UK branch of the research, at Cambridge University Hospital, said the therapy could significantly improve lives.”Hereditary angioedema can cause patients severe swellings and intense pain, which can be life-threatening as well as restricting normal activities, such as going to work or school,” he said.”Because it is often misdiagnosed, many patients undergo unnecessary treatments and invasive procedures.”This is not the only condition in which Crispr-based gene editing is being tried. “There are a lot of clinical trials targeting various other conditions that are producing similar results.”The patients will be followed up for 15 years – to monitor the treatment’s long-term safety and efficacy.Larger trials are also scheduled.

Most approved gene therapies today, including those involving CRISPR-Cas9, work their magic on cells removed from the body, after which the edited cells are returned to the patient.
This technique is ideal for targeting blood cells and is currently the method employed in newly approved CRISPR gene therapies for blood diseases like sickle cell anemia, in which edited blood cells are reinfused in patients after their bone marrow has been destroyed by chemotherapy.
A new, precision-targeted delivery method for CRISPR-Cas9, published Jan. 11 in the journal Nature Biotechnology, enables gene editing on very specific subsets of cells while still in the body — a step toward a programmable delivery method that would eliminate the need to obliterate patients’ bone marrow and immune system before giving them edited blood cells.
The delivery method, developed in the University of California, Berkeley, laboratory of Jennifer Doudna, co-inventor of CRISPR-Cas9 genome editing, involves wrapping the Cas9 editing proteins and guide RNAs in a membrane bubble that has been decorated with pieces of monoclonal antibodies that home in on specific types of blood cells.
As a demonstration, Jennifer Hamilton, a CRISPR researcher in the Doudna laboratory at the Innovative Genomics Institute (IGI), targeted a cell of the immune system — a T-cell — which is the starting point for a revolutionary cancer treatment called chimeric antigen receptor (CAR) T-cell therapy. Hamilton and her colleagues treated live mice that had been equipped with a humanized immune system and turned their human T-cells into CAR T-cells able to home in on and eliminate another class of immune cell, a B cell.
The feat was a proof of principle, Hamilton said, showing the potential to use this carrier method — enveloped delivery vehicles — to target and edit blood cells and potentially other types of cells in living animals (in vivo) and, eventually, humans.
“Our approach involves multiplexing targeting molecules, that is, having two or more targeting molecules on our particles that interact with their target cell somewhat like an AND gate in a computer,” said Hamilton, referring to logic circuits that operate only when two events happen simultaneously. “We were able to get more effective delivery when the particles bound using two antibody ligand interactions. After treating mice with T-cell-targeted vectors, we observed genome engineering in our cell type of interest, T-cells, and not in liver hepatocytes.”
Highly specific targeting is difficult for all methods of delivering genes into cells, she said. Liver cells, in particular, often take up delivery vehicles directed elsewhere.

Viral envelopes
Hamilton and her team are investigating one of several experimental techniques for delivering gene therapies. Many employ the outer coat of encapsulated viruses — the viruses are emptied out and stuffed with corrective transgenes or gene editing tools such as CRISPR-Cas9. Other methods, including one being explored by researchers at IGI, rely on directly injecting cell-penetrating Cas9 proteins into mice to achieve genome editing.
Hamilton, who studied enveloped viruses such as influenza for her Ph.D., focused on engineering that class of viruses because they have a more flexible outer coat, which consists of the exterior membrane of the cell from which they budded.
In a 2021 publication, she demonstrated that the exterior envelope of an HIV-1 virus, which had been gutted and filled with Cas9 and she called a virus-like particle (VLP), could edit T-cells in culture (ex vivo) and convert them to CAR T-cells. Since then, she has altered the viral envelope so much that she now refers to them as enveloped delivery vehicles, or EDVs.
One key aspect of EDVs is that their outer envelopes can be easily decorated with more than one antibody fragment or targeting ligand, which greatly improves the targeting specificity. Other gene delivery vehicles, such as adeno-associated viruses and lipid nanoparticles, have proven harder to target precisely.
“There are efforts to retarget all of these vectors to have specificity towards one cell type and de-target them against delivery to other cell types,” Hamilton said. “You can display antibodies or antibody fragments, like what we’ve been doing, but the uptake in bystander cells is still quite high. You can bias the delivery into one cell type, but you may still observe uptake in bystander cells. In our paper, we actually looked in the liver to see if we were getting off-target delivery and saw none. I think it would be more challenging to achieve that with a more traditional non-enveloped viral vector or lipid nanoparticle.”
In the paper, Hamilton and her colleagues sought to replicate in vivo an ex vivo CRISPR CAR T-cell therapy successfully given to cancer patients that was reported in Science in 2020. That therapy not only delivered a transgene for a receptor targeting cancer cells, but knocked out, using CRISPR, receptors not targeting the cancer.

The UC Berkeley researchers succeeded in knocking out the native T-cell receptor and delivering a transgene for a receptor that targeted B cells — a proxy for cancer cells. Because the Cas9 protein was delivered along with the transgene within the same EDV, it had a shorter life span than methods that deliver a Cas9 gene, which translates to fewer off-target edits.
“What we’ve tried to achieve in this paper,” Hamilton said, “is skipping that whole step of having to engineer cells outside the body. We aimed to systemically administer a single vector that would do both gene delivery and gene knockout in specific cell types inside the body. We used this delivery strategy to make gene-edited CAR T-cells in vivo, in the hopes that we’d be able to streamline the complex process used to manufacture gene-edited CAR T-cells ex vivo.”
Doudna and her lab continue to improve the efficiency of EDV-mediated delivery. Hamilton, formerly a postdoctoral researcher in Doudna’s lab, is further developing this delivery method as a fellow in the IGI’s Women in Enterprising Science program. The lab’s ultimate reason for focusing on vectors that work in vivo is to make CRISPR therapies more broadly available and cheaper. In a recent essay in Wired magazine, Doudna referred to the inequities of today’s expensive gene therapies, in part due to extended hospital stays that are required when a patient undergoes a bone marrow transplant.
“The therapy for sickle cell disease is projected to cost over $2 million per patient, and only a small number of facilities in the U.S. have the technological capability to provide it,” wrote Doudna, who shared the 2020 Nobel Prize in Chemistry for her co-invention of CRISPR-Cas9 genome editing. “New technologies allowing in vivo delivery of gene-editing therapies and improved manufacturing will be key to driving prices down, as will unique partnerships between universities, government and industry, brought together with affordability as a common goal. It is not enough to simply make the tools. We must ensure they reach those who need them most.”
In addition to Hamilton and Doudna, other co-authors of the paper are Evelyn Chen, Barbara Perez, Cindy Sandoval Espinoza, Min Hyung Kang and Marena Trinidad, all affiliated with the IGI and UC Berkeley’s Department of Molecular and Cell Biology, and Wayne Ngo of the Gladstone Institutes in San Francisco.
Funding was provided by the National Institutes of Health (RM1HG009490, U01AI142817-02, U19 64542, 64340), U.S. Department of Energy (63645), Emerson Collective and Howard Hughes Medical Institute. Hamilton was supported by the National Institute of General Medical Sciences (K99GM143461-01A1) and the Jane Coffin Childs Memorial Fund for Medical Research.

Published2 hours agoShareclose panelShare pageCopy linkAbout sharingImage source, Getty ImagesBy Aurelia FosterHealth reporterTens of thousands of people with Jewish ancestry will be offered genetic tests to find out if they have an increased risk of developing some cancers.People with Jewish ancestry are far more likely to have inherited faulty BRCA genes than the general population. Those born with impaired BRCA1 and BRCA2 genes have a greater risk of developing breast, ovarian, prostate or pancreatic cancer. The NHS England screening programme is part of a drive to detect cancer early.Women who have faulty BRCA genes have been found to have up to a 72% chance of developing breast cancer and 44% chance of developing ovarian cancer, compared with 11.5% and 1.5% respectively for the general population.People who are found to have defective BRCA genes, known as being BRCA positive, will be given early access to cancer detection services such as mammograms or MRI scans. They may also be offered preventative surgery or medication, and advised to make risk-reducing lifestyle changes.Home testingAnyone aged over 18 who has at least one Jewish grandparent is eligible for screening, under the NHS Jewish BRCA Testing Programme . Previously, people had to meet more stringent criteria to be tested, meaning fewer had qualified for the programme. The tests can be ordered online and completed at home, by taking a sample of saliva and sending it off to a laboratory.Everyone carries BRCA genes, which repair DNA damage and usually help to protect against cancer. However, it is estimated that a fault in one of those genes affects about one in every 400 people, with Jewish people six times more likely to be affected.There is a 50% chance of someone who has a faulty BRCA gene passing it on to any children.However, having an altered BRCA gene does not mean a person will definitely develop cancer. Peter Johnson, national clinical director for cancer at NHS England, said the testing programme had “the potential to save lives”.”We know it can be daunting finding out whether or not you have an altered BRCA gene, and some people may feel they’d rather not know – but finding out early means people can get the support they need from the NHS,” Mr Johnson said. ‘Not worth the risk’Image source, Jonathan KayeKatie Kaye, a Jewish mother-of-two who is BRCA positive, said she was “thrilled” about the rollout, highlighting how screening had previously been difficult for some to access.Ms Kaye, from Borehamwood, Hertfordshire, said she was tested after her mother died of breast cancer aged 35.”I decided it was the best option. That way I could decide what I wanted to do,” she said”I have young kids, and the thought of not being around for them is not an option.”Ms Kaye plans to have a preventative double mastectomy this summer, followed by surgery to remove her ovaries next year.”It will be nice not to have it hanging over me,” she said.She said she could understand why people might avoid being tested, but added, “it’s silly to bury your head in the sand – it’s not worth the risk”.During a pilot phase of the programme, 5,000 people of with Jewish ancestry came forward for testing, 80 of whom were found to have defective BRCA genes.The aim of the national rollout is to test 30,000 people over the next two years.Nicole Gordon, chief executive officer of the charity Jnetics – which has worked with the NHS on the rollout – described the programme as “a huge opportunity to gain the knowledge that will help mitigate against the impact of hereditary cancer, and ultimately save lives”.”We want to ensure that this programme reaches as many people as possible,” said Lisa Steele, chief executive of Chai Cancer Care, who also worked alongside the NHS on the testing programme.Cancer Research UK estimates 5-10% of all diagnosed cancers are linked to an inherited faulty gene, but that figure is not specific to BRCA genes.NHS England said it “continues to roll out innovations to catch cancers early – when treatments are more likely to be successful”. More on this storyBreast cancer gene linked to Orkney islandsPublished16 March 2023Ovarian cancer link to paternal genesPublished15 February 2018Cancer survival ‘unaffected by faulty gene’Published12 January 2018’Screen more’ for cancer risk genesPublished1 December 2014Related Internet LinksJewish BRCA – Jewish BRCANHS EnglandThe BBC is not responsible for the content of external sites.

Published10 hours agoShareclose panelShare pageCopy linkAbout sharingImage source, Getty ImagesBy Aurelia FosterHealth reporterTens of thousands of people with Jewish ancestry will be offered genetic tests to find out if they have an increased risk of developing some cancers.People with Jewish ancestry are far more likely to have inherited faulty BRCA genes than the general population. Those born with impaired BRCA1 and BRCA2 genes have a greater risk of developing breast, ovarian, prostate or pancreatic cancer. The NHS England screening programme is part of a drive to detect cancer early.Women who have faulty BRCA genes have been found to have up to a 72% chance of developing breast cancer and 44% chance of developing ovarian cancer, compared with 11.5% and 1.5% respectively for the general population.People who are found to have defective BRCA genes, known as being BRCA positive, will be given early access to cancer detection services such as mammograms or MRI scans. They may also be offered preventative surgery or medication, and advised to make risk-reducing lifestyle changes.Home testingAnyone aged over 18 who has at least one Jewish grandparent is eligible for screening, under the NHS Jewish BRCA Testing Programme . Previously, people had to meet more stringent criteria to be tested, meaning fewer had qualified for the programme. The tests can be ordered online and completed at home, by taking a sample of saliva and sending it off to a laboratory.Everyone carries BRCA genes, which repair DNA damage and usually help to protect against cancer. However, it is estimated that a fault in one of those genes affects about one in every 400 people, with Jewish people six times more likely to be affected.There is a 50% chance of someone who has a faulty BRCA gene passing it on to any children.However, having an altered BRCA gene does not mean a person will definitely develop cancer. Peter Johnson, national clinical director for cancer at NHS England, said the testing programme had “the potential to save lives”.”We know it can be daunting finding out whether or not you have an altered BRCA gene, and some people may feel they’d rather not know – but finding out early means people can get the support they need from the NHS,” Mr Johnson said. ‘Not worth the risk’Image source, Jonathan KayeKatie Kaye, a Jewish mother-of-two who is BRCA positive, said she was “thrilled” about the rollout, highlighting how screening had previously been difficult for some to access.Ms Kaye, from Borehamwood, Hertfordshire, said she was tested after her mother died of breast cancer aged 35.”I decided it was the best option. That way I could decide what I wanted to do,” she said”I have young kids, and the thought of not being around for them is not an option.”Ms Kaye plans to have a preventative double mastectomy this summer, followed by surgery to remove her ovaries next year.”It will be nice not to have it hanging over me,” she said.She said she could understand why people might avoid being tested, but added, “it’s silly to bury your head in the sand – it’s not worth the risk”.During a pilot phase of the programme, 5,000 people of with Jewish ancestry came forward for testing, 80 of whom were found to have defective BRCA genes.The aim of the national rollout is to test 30,000 people over the next two years.Nicole Gordon, chief executive officer of the charity Jnetics – which has worked with the NHS on the rollout – described the programme as “a huge opportunity to gain the knowledge that will help mitigate against the impact of hereditary cancer, and ultimately save lives”.”We want to ensure that this programme reaches as many people as possible,” said Lisa Steele, chief executive of Chai Cancer Care, who also worked alongside the NHS on the testing programme.Cancer Research UK estimates 5-10% of all diagnosed cancers are linked to an inherited faulty gene, but that figure is not specific to BRCA genes.NHS England said it “continues to roll out innovations to catch cancers early – when treatments are more likely to be successful”. More on this storyBreast cancer gene linked to Orkney islandsPublished16 March 2023Ovarian cancer link to paternal genesPublished15 February 2018Cancer survival ‘unaffected by faulty gene’Published12 January 2018’Screen more’ for cancer risk genesPublished1 December 2014Related Internet LinksJewish BRCA – Jewish BRCANHS EnglandThe BBC is not responsible for the content of external sites.

Researchers from Brigham and Women’s Hospital, a founding member of Mass General Brigham, and the Massachusetts Institute of Technology (MIT) have unveiled unprecedentedly detailed images of brain cancer tissue through the use of a new microscopy technology called decrowding expansion pathology (dExPath).Their findings, published in Science Translational Medicine, provide novel insights into brain cancer development, with potential implications for advancing the diagnosis and treatment of aggressive neurological diseases.
“In the past, we have relied on expensive, super-resolution microscopes that only very well-funded labs could afford, required specialized training to use, and are often impractical for high-throughput analyses of brain tissues at the molecular level,” said Pablo Valdes, MD, PhD, a neurosurgery resident alumnus at the Brigham and lead author of the study. “This technology brings reliable, super-resolution imaging to the clinic, enabling scientists to study neurological diseases at a never-before-achieved nanoscale level on conventional clinical samples with conventional microscopes.”
Researchers previously relied on costly, super-high-resolution microscopes to image nanoscale structures in cells and brain tissue, and, even with the most advanced technology, they often struggled to effectively capture these structures at the nanoscale level.
Ed Boyden, PhD, the Y. Eva Tan Professor in Neurotechnology at MIT and co-senior author on this study, began addressing this problem by labeling tissues, and then chemically modifying them to enable uniform physical expansion of tissues. However, this expansion technology was far from perfect. Relying on enzymes known as proteases to break up tissue, scientists found that this chemical treatment with enzymes destroyed proteins before they could analyze them, leaving behind only a skeleton of the original structure, retaining only the labels.
Working together, Boyden and E. Antonio Chiocca, MD, PhD, Neurosurgery Chair at Brigham and Women’s Hospital and co-senior author on this study, mentored Valdes during his training as a neurosurgeon-scientist, to develop novel chemistries with dExPath to address the limitations of the original expansion technology.
Their new technology chemically modifies tissues by embedding them in a gel and ‘softening’ the tissues with a special chemical treatment that separates protein structures without destroying them and which allows tissues to expand. This provided exciting findings to the MIT and Brigham researchers, who routinely use commercially available antibodies to bind to and illuminate biomarkers in a sample. Antibodies, however, are large and many times cannot easily penetrate cell structures to reach their target. Now, by pulling proteins apart with dExPath, these same antibodies used for staining can penetrate spaces to bind proteins in tissue that could not be accessed before expansion, highlighting nanometer sized structures or even cell populations that were previously hidden.
“The human brain has several stop guards in place to protect itself from pathogens and environmental toxins. But these elements make studying brain activity challenging. It can be a bit like driving a car through mud and ditches. We cannot access certain cell structures in the brain because of barriers that stand in the way,” said E. Antonio Chiocca, MD, PhD, chair of the Department of Neurosurgery at the Brigham. “That is just is one of the reasons that this new technology could be so practice changing. If we can take more detailed and accurate images of brain tissue, we can identify more biomarkers and be better equipped to diagnose and treat aggressive brain diseases.”
To validate the effectiveness of dExPath, Boyden and Chiocca’s team applied the technology to healthy human brain tissue, high and low-grade brain cancer tissues, and brain tissues affected by neurodegenerative diseases including Alzheimer’s and Parkinson’s diseases. Investigators stained tissue for brain and disease specific biomarkers and captured images before and after expanding samples with dExPath.

The results revealed uniform and consistent expansion of the tissue without distortion, enabling accurate analysis of protein structures. Additionally, dExPath effectively eliminated fluorescent signals in brain tissue called lipofuscin, which makes imaging of subcellular structures in brain tissues very difficult, further enhancing image quality. Further, dExPath provided stronger fluorescent signals for improved labeling as well as simultaneous labeling of up to 16 biomarkers in the same tissue specimen. Notably, dExPath imaging revealed that tumors previously classified as “low-grade” contained more aggressive features and cell populations, suggesting the tumor could become far more dangerous than anticipated.
While promising, dExPath requires validation on larger sample sizes before it can contribute to the diagnosis of neurological conditions such as brain cancer. Valdes underscores that, although still in its early stages, his team aspires for this technology to eventually serve as a diagnostic tool, ultimately enhancing patient outcomes.
“We hope that with this technology, we can better understand at the nanoscale levels the intricate workings of brain tumors and their interactions with the nervous system without depending on exorbitantly expensive lab equipment,” said Valdes who is now an assistant professor of neurosurgery and Jennie Sealy Distinguished Chair in Neuroscience at the University of Texas Medical Branch. “The accessibility of dExPath will bring enable super-resolution imaging to understand biological processing at the nanometer level in human tissue in neuro-oncology and in neurological disease such as Alzheimer’s and Parkinson’s, and one day, could even improve diagnostic strategies and patient outcomes.”