In February, a six-month-old baby named KJ Muldoon became the first person ever to receive a CRISPR gene-editing treatment customized specifically for his unique genetic mutation, a milestone that researchers say marks a turning point in how medicine might approach the thousands of rare diseases that collectively affect 30 million Americans. Muldoon was born with a type of urea-cycle disorder that gives patients roughly a 50% chance of surviving infancy and typically requires a liver transplant; he is now a healthy 1-year-old who recently took his first steps.

The treatment's significance extends beyond one child. Scientists at UC Berkeley's Innovative Genomics Institute and the Children's Hospital of Philadelphia are now planning clinical trials that would use Muldoon's therapy as a template, tweaking the molecular "address" in the CRISPR system to target different mutations in other children with urea-cycle disorders. Last month, FDA officials Marty Makary and Vinay Prasad announced a new drug pathway designed to accelerate approvals for such personalized treatments -- a framework inspired in large part by Muldoon's case. Current gene-editing delivery mechanisms limit treatments to disorders in the blood and liver. Many families will still go without bespoke therapies.

An anonymous reader quotes a report from the New York Times: The San Francisco city attorney filed on Tuesday the nation's first government lawsuit against food manufacturers over ultraprocessed fare (source may be paywalled; alternative source), arguing that cities and counties have been burdened with the costs of treating diseases that stem from the companies' products. David Chiu, the city attorney, sued 10 corporations that make some of the country's most popular food and drinks. Ultraprocessed products now comprise 70 percent of the American food supply and fill grocery store shelves with a kaleidoscope of colorful packages. Think Slim Jim meat sticks and Cool Ranch Doritos. But also aisles of breads, sauces and granola bars marketed as natural or healthy.

It is a rare issue on which the liberal leaders in San Francisco City Hall are fully aligned with the Trump administration, which has targeted ultraprocessed foods as part of its Make America Healthy Again mantra. Mr. Chiu's lawsuit, which was filed in San Francisco Superior Court on behalf of the State of California, seeks unspecified damages for the costs that local governments bear for treating residents whose health has been harmed by ultraprocessed food. The city accuses the companies of "unfair and deceptive acts" in how they market and sell their foods, arguing that such practices violate the state's Unfair Competition Law and public nuisance statute. The city also argues the companies knew that their food made people sick but sold it anyway.

A top United States regulator plans to unveil a faster approach to approving custom gene-editing treatments, a move designed to unleash a wave of industry investment that will yield cures for patients with rare diseases. From a report: Vinay Prasad, who oversees gene therapies at the Food and Drug Administration, said scientific advances, like Crispr, have forced the agency to relax some of its strict rules. As an example, he cited the case of 10-month-old KJ Muldoon, who this year became the first person in history to have his genes custom edited to cure an inherited disease.

"Regulation has to evolve as fast as science evolves," Prasad said in an interview with Bloomberg News. The agency is "going to be extremely flexible and work very fast with the scientists who want to bring these therapies to kids who need it." Prasad plans to publish a paper in early November outlining the FDA's new approach. He predicted it will spark interest in developing treatments for conditions that may affect only a handful of people.

An anonymous reader quotes a report from the Conversation: Sound waves at frequencies above the threshold for human hearing are routinely used in medical care. Also known as ultrasound, these sound waves can help clinicians diagnose and monitor disease, and can also provide first glimpses of your newest family members. And now, patients with conditions ranging from cancer to neurodegenerative diseases like Alzheimer's may soon benefit from recent advances in this technology.

I am a biomedical engineer who studies how focused ultrasound -- the concentration of sound energy into a specific volume -- can be fine-tuned to treat various conditions. Over the past few years, this technology has seen significant growth and use in the clinic. And researchers continue to discover new ways to use focused ultrasound to treat disease. [...] Research on focused ultrasound has primarily focused on the most devastating and prevalent diseases, such as cancer and Alzheimer's disease. However, I believe that further developments in, and increased use of, focused ultrasound in the clinic will eventually benefit patients with rare diseases.

One rare disease of particular interest for my lab is cerebral cavernous malformation, or CCM. CCMs are lesions in the brain that occur when the cells that make up blood vessels undergo uncontrolled growth. While uncommon, when these lesions grow and hemorrhage, they can cause debilitating neurological symptoms. The most common treatment for CCM is surgical removal of the brain lesions; however, some CCMs are located in brain areas that are difficult to access, creating a risk of side effects. Radiation is another treatment option, but it, too, can lead to serious adverse effects.

We found that using focused ultrasound to open the blood-brain barrier can improve drug delivery to CCMs. Additionally, we also observed that focused ultrasound treatment itself could stop CCMs from growing in mice, even without administering a drug. While we don't yet understand how focused ultrasound is stabilizing CCMs, abundant research on the safety of using this technique in patients treated for other conditions has allowed neurosurgeons to begin designing clinical trials testing the use of this technique on people with CCM. With further research and advancements, I am hopeful that focused ultrasound can become a viable treatment option for many devastating rare diseases.

"For a few dozen people in the world, the downside of living with a rare immune condition comes with a surprising superpower — the ability to fight off all viruses..." notes an announcement from Columbia University. "At first, the condition only seemed to increase vulnerability to some bacterial infections. But as more patients were identified, its unexpected antiviral benefits became apparent." Columbia immunologist Dusan Bogunovic discovered the individuals' antiviral powers about 15 years ago, soon after he identified the genetic mutation that causes the condition... Bogunovic, a professor of pediatric immunology at Columbia University's Vagelos College of Physicians and Surgeons, soon learned that everyone with the mutation, which causes a deficiency in an immune regulator called ISG15, has mild, but persistent systemic inflammation... "In the back of my mind, I kept thinking that if we could produce this type of light immune activation in other people, we could protect them from just about any virus," Bogunovic says.

Today, Bogunovic is closing in on a therapeutic strategy that could provide that broad-spectrum protection against viruses and become an important weapon in next pandemic. In his latest study, published August 13 in Science Translational Medicine, Bogunovic and his team report that an experimental therapy they've developed temporarily gives recipients (hamsters and mice, so far) the same antiviral superpower as people with ISG15 deficiency. When administered prophylactically into the animals' lungs via a nasal drip, the therapy prevented viral replication of influenza and SARS-CoV-2 viruses and lessened disease severity. In cell culture, "we have yet to find a virus that can break through the therapy's defenses," Bogunovic says...

Bogunovic's therapeutic turns on production of 10 proteins that are primarily responsible for the broad antiviral protection. The current design resembles COVID mRNA vaccines but with a twist: Ten mRNAs encoding the 10 proteins are packaged inside a lipid nanoparticle. Once the nanoparticles are absorbed by the recipient's cells, the cells generate the ten host proteins to produce the antiviral protection. "We only generate a small amount of these ten proteins, for a very short time, and that leads to much less inflammation than what we see in ISG15-deficient individuals," Bogunovic says. "But that inflammation is enough to prevent antiviral diseases...."

"We believe the technology will work even if we don't know the identity of the virus," Bogunovic says. Importantly, the antiviral protection provided by the technology will not prevent people from developing their own immunological memory to the virus for longer-term protection.
"Our findings reinforce the power of research driven by curiosity without preconceived notions," Bogunovic says in the announcement. "We were not looking for an antiviral when we began studying our rare patients, but the studies have inspired the potential development of a universal antiviral for everyone."

More coverage from ScienceAlert.

"Eight healthy babies were born in Britain," reports Phys.org, "with the help of an experimental technique that uses DNA from three people to help mothers avoid passing devastating rare diseases to their children, researchers reported Wednesday."

Mutations in mitochondrial DNA "can cause a range of diseases in children that can lead to muscle weakness, seizures, developmental delays, major organ failure and death," and in rare cases even pre-IVF testing can't clearly detect their presence. Researchers have been developing a technique that tries to avoid the problem by using the healthy mitochondria from a donor egg. They reported in 2023 that the first babies had been born using this method... Using this method means the embryo has DNA from three people — from the mother's egg, the father's sperm and the donor's mitochondria — and it required a 2016 U.K. law change to approve it. It is also allowed in Australia but not in many other countries, including the U.S. Experts at Britain's Newcastle University and Monash University in Australia reported in the New England Journal of Medicine Wednesday that they performed the new technique in fertilized embryos from 22 patients, which resulted in eight babies that appear to be free of mitochondrial diseases. One woman is still pregnant...

Robin Lovell-Badge [a stem cell and developmental genetics scientist at the Francis Crick Institute who was not involved in the research] said the amount of DNA from the donor is insignificant, noting that any resulting child would have no traits from the woman who donated the healthy mitochondria...

In the U.K., every couple seeking a baby born through donated mitochondria must be approved by the country's fertility regulator. As of this month, 35 patients have been authorized to undergo the technique. Critics have previously raised concerns, warning that it's impossible to know the impact these sorts of novel techniques might have on future generations... But in countries where the technique is allowed, advocates say it could provide a promising alternative for some families.

Scientists have successfully treated a 9.5-month-old boy with an ultra-rare genetic disorder using the world's first personalized gene-editing therapy. The patient, identified as KJ, has CPS1 deficiency -- a condition affecting just one in 1.3 million babies that prevents proper ammonia processing and is often fatal.

The breakthrough treatment, detailed in the New England Journal of Medicine, uses base editing technology to correct KJ's specific DNA mutation. The therapy delivers CRISPR components wrapped in fatty lipid molecules that protect them in the bloodstream until they reach liver cells, where they make the precise edit needed.

After three infusions, KJ now eats normal amounts of protein and has maintained stable ammonia levels even through viral illnesses that would typically cause dangerous spikes. His weight has increased from the 7th to 40th percentile. Dr. Peter Marks, former FDA official, called the approach "one of the most potentially transformational technologies" because it could be rapidly adapted for thousands of other rare genetic diseases without lengthy development cycles.

An anonymous reader quotes a report from Wired: A 41-year-old man in New Hampshire died last week after contracting a rare mosquito-borne illness called eastern equine encephalitis virus, also known as EEE or "triple E." It was New Hampshire's first human case of the disease in a decade. Four other human EEE infections have been reported this year, in Wisconsin, New Jersey, Massachusetts, and Vermont. Though this outbreak is small, and triple E does not pose a risk to most people living in the United States, public health officials and researchers are concerned about the threat the deadly virus poses to the public, both this year and in future summers. There is no known cure for the disease, which can cause severe flu-like symptoms and seizures in humans four to 10 days after exposure and kills between 30 and 40 percent of the people it infects (Warning: source paywalled; alternative source). Half of the people who survive a triple E infection are left with permanent neurological damage. Because of EEE's high mortality rate, state officials have begun spraying insecticide in Massachusetts, where 10 communities have been designated "critical" or "high risk" for triple E. Towns in the state shuttered their parks from dusk to dawn and warned people to stay inside after 6 pm, when mosquitoes are most active.

Like West Nile virus, another mosquito-borne illness that poses a risk to people in the US every summer, triple E is constrained by environmental factors that are changing rapidly as the planet warms. That's because mosquitoes thrive in the hotter, wetter conditions that climate change is producing. "We have seen a resurgence of activity with eastern equine encephalitis virus over the course of the past 10 or so years," said Theodore G. Andreadis, a researcher who studied mosquito-borne diseases at the Connecticut Agricultural Experiment Station, a state government research and public outreach outfit, for 35 years. "And we've seen an advancement into more northern regions where it had previously not been detected." Researchers don't know what causes the virus to surge and abate, but Andreadis said it's clear that climate change is one of the factors spurring its spread, particularly into new regions. [...]

Studies have shown that warmer air temperatures up to a certain threshold, around 90 degrees Fahrenheit, shorten the amount of time it takes for C. melanura eggs to hatch. Higher temperatures in the spring and fall extend the number of days mosquitoes have to breed and feed. And they'll feed more times in a summer season if it's warmer -- mosquitoes are ectothermic, meaning their metabolism speeds up in higher temperatures. Rainfall, too, plays a role in mosquito breeding and activity, since mosquito eggs need water to hatch. A warmer atmosphere holds more moisture, which means that even small rainfall events dump more water today than they would have last century. The more standing water there is in roadside ditches, abandoned car tires, ponds, bogs, and potholes, the more opportunities mosquitoes have to breed. And warmer water decreases the incubation period for C. melanura eggs, leading one study to conclude that warmer-than-average water temperatures "increase the probability for amplification of EEE." Climate change isn't the only factor encouraging the spread of disease vectors like mosquitoes. The slow reforestation of areas that were clear-cut for industry and agriculture many decades ago is creating new habitat for insects. At the same time, developers are building new homes in wooded or half-wooded zones in ever larger numbers, putting humans in closer proximity to the natural world and the bugs that live in it. The report notes that the best way to prevent mosquito bites is to "wear long sleeves and pants at dusk and dawn, when mosquitoes are most prone to biting, and regularly apply an effective mosquito spray." Local health departments can also help protect the public by "testing pools of water for mosquito larvae and conducting public awareness and insecticide spraying campaigns when triple E is detected," notes Wired.

A vaccine for the disease exists for horses, but because the illness is so rare "there is little incentive for vaccine manufacturers to develop a preventative for triple E in humans," adds the report.

Bloomberg reports: A disease caused by a rare "flesh-eating bacteria" that can kill people within 48 hours is spreading in Japan after the country relaxed Covid-era restrictions. Cases of streptococcal toxic shock syndrome (STSS) reached 977 this year by June 2, higher than the record 941 cases reported for all of last year, according to the National Institute of Infectious Diseases, which has been tracking incidences of the disease since 1999.

Group A Streptococcus (GAS) typically causes swelling and sore throat in children known as "strep throat," but some types of the bacteria can lead to symptoms developing rapidly, including limb pain and swelling, fever, low blood pressure, that can be followed by necrosis, breathing problems, organ failure and death. People over 50 are more prone to the disease. "Most of the deaths happen within 48 hours," said Ken Kikuchi, a professor in infectious diseases at Tokyo Women's Medical University. "As soon as a patient notices swelling in foot in the morning, it can expand to the knee by noon, and they can die within 48 hours...."

At the current rate of infections, the number of cases in Japan could reach 2,500 this year, with a "terrifying" mortality rate of 30%, Kikuchi said.

An anonymous reader shares an excerpt from MIT Technology Review: Today, researchers announced yet another version of the human genome map, which they say combines the complete DNA of 47 diverse individuals -- Africans, Native Americans, and Asians, among other groups -- into one giant genetic atlas that they say better captures the surprising genetic diversity of our species. The new map, called a "pangenome," has been a decade in the making, and researchers say it will only get bigger, creating an expanding view of the genome as they add DNA from another 300 people from around the globe. It was published in the journal Nature today. People's genomes are largely alike, but it's the hundreds of thousands of differences, often just single DNA letters, that explain why each of us is unique. The new pangenome, researchers say, should make it possible to observe this diversity in more detail than ever before, highlighting so-called evolutionary hot spots as well as thousands of surprisingly large differences, like deleted, inverted, or duplicated genes, that aren't observable in conventional studies. The pangenome relies on a mathematical concept called a graph, which you can imagine as a massive version of connect-the-dots. Each dot is a segment of DNA. To draw a particular person's genome, you start connecting the numbered dots. Each person's DNA can take a slightly different path, skipping some numbers and adding others.

One payoff of the new pangenome could be better ways to diagnose rare diseases, although practical applications aren't easy to name. Instead, scientists say it's mainly giving them insight into some of the "dark matter" of the genome that's previously been hard to see, including strange regions of chromosomes that seem to share and exchange genes. For now, most biologists and doctors will stick to the existing "reference genome," the one first produced in draft form in 2001 and gradually improved. It answers most questions researchers are interested in, and all their computer tools work with it. The reason a reference genome is important is that when a new person's genome is sequenced, that sequence is projected onto the reference in order to organize and read the new data. Yet since the current reference is just one possible genome, missing bits that some people have, some information can't be analyzed and is usually ignored. Researchers call this effect "reference bias" or, more simply, the streetlamp problem. You don't see where you don't look.

Officials with NIH said they hoped the new update to the genome map would make gene research more "equitable." That's because the more different your genome is from the current reference, the more information about you could be missed. The existing reference is largely the DNA of one African-American man, although it includes segments from several other people as well. "If the genome you want to analyze has sequences that are not in that reference, they will be missed in the analysis," says Deanna Church, a consultant with the business incubator General Inception, who previously held a key role at NIH managing the reference genome. "In reality, the notion that there is a 'human genome' is really the problem," she says. "The current version is the simplest model you can make. It made sense when we started ... But now we need better models."

An anonymous reader quotes a report from the Guardian: Millions of lives could be saved by a groundbreaking set of new vaccines for a range of conditions including cancer, experts have said. A leading pharmaceutical firm said it is confident that jabs for cancer, cardiovascular and autoimmune diseases, and other conditions will be ready by 2030. Studies into these vaccinations are also showing "tremendous promise", with some researchers saying 15 years' worth of progress has been "unspooled" in 12 to 18 months thanks to the success of the Covid jab.

Dr Paul Burton, the chief medical officer of pharmaceutical company Moderna, said he believes the firm will be able to offer such treatments for "all sorts of disease areas" in as little as five years. The firm, which created a leading coronavirus vaccine, is developing cancer vaccines that target different tumor types. Burton said: "We will have that vaccine and it will be highly effective, and it will save many hundreds of thousands, if not millions of lives. I think we will be able to offer personalized cancer vaccines against multiple different tumor types to people around the world."

He also said that multiple respiratory infections could be covered by a single injection -- allowing vulnerable people to be protected against Covid, flu and respiratory syncytial virus (RSV) -- while mRNA therapies could be available for rare diseases for which there are currently no drugs. Therapies based on mRNA work by teaching cells how to make a protein that triggers the body's immune response against disease. Burton said :"I think we will have mRNA-based therapies for rare diseases that were previously undruggable, and I think that 10 years from now, we will be approaching a world where you truly can identify the genetic cause of a disease and, with relative simplicity, go and edit that out and repair it using mRNA-based technology." But scientists warn that the accelerated progress, which has surged "by an order of magnitude" in the past three years, will be wasted if a high level of investment is not maintained.

A 19-month-old girl named Teddi recently became the first child in the U.K. outside a clinical trial to receive a new gene therapy for metachromatic leukodystrophy (MLD), a fatal genetic disorder, the National Health Service (NHS) announced. Roughly six months out from treatment, "Teddi is a happy and healthy toddler showing no signs of the devastating disease she was born with," the NHS statement reads. Live Science reports: The genetic disorder MLD disrupts cells' ability to break down sulfatides, a fatty material used to insulate the wiring that runs through the white matter of the brain and much of the nervous system beyond the brain. Sulfatide buildup destroys brain and nerve cells, resulting in cognitive problems, a loss of motor control and sensation, seizures, paralysis and blindness, according to the Genetic and Rare Diseases Information Center. Eventually, the disorder leads to death. [...]

The new gene therapy, called Libmeldy (generic name atidarsagene autotemcel), was only recently cleared for use by the NHS and works by inserting into the body working copies of the genes that are faulty in MLD, thus restoring the ability to break down sulfatides. Libmeldy is made using stem cells that are derived from a patient's blood or bone marrow and can give rise to different types of blood cells, according to the European Medicines Agency (EMA). These stem cells carry the new, functional genes into the body, where they give rise to white blood cells that travel through the bloodstream. In clinical trials, Libmeldy offered clear benefits to infantile and juvenile patients who hadn't yet developed MLD symptoms; these patients were able to break down sulfatides at normal rates and showed typical patterns of motor development, for example. The benefit of the therapy seemed to last several years, but at this point, "it is not yet clear whether it will persist life-long, and extended follow-up is needed," the EMA noted.

An anonymous reader quotes a report from The Guardian: Genomics England is to test whether sequencing babies' genomes at birth could help speed up the diagnosis of about 200 rare genetic diseases, and ensure faster access to treatment. The study, which will sequence the genomes of 100,000 babies over the next two years, will explore the cost-effectiveness of the approach, as well as how willing new parents are to accept it. Although researchers will only search babies' genomes for genetic conditions that surface during early childhood, and for which an effective treatment already exists, their sequences will be held on file. This could open the door to further tests that could identify untreatable adult onset conditions, or other genetically determined traits, in the future.

The study aims to recruit 100,000 newborn children to undergo voluntary whole genome sequencing over the next two years, to assess the feasibility and effectiveness of the technology – including whether it could save the NHS money by preventing serious illness. It will also explore how researchers might access an anonymized version of this database to study people as they grow older, and whether a person's genome might be used throughout their lives to inform future healthcare decisions. For instance, if someone develops cancer when they are older, there may be an opportunity to use their stored genetic information to help diagnose and treat them. Dr Richard Scott, chief medical officer at Genomics England, said: "At the moment, the average time to diagnosis in a rare disease is about five years. This can be an extraordinary ordeal for families, and it also puts pressure on the health system. The question this program is responding to is: 'is there a way that we can get ahead of this?'"

"The bottom line here is about us taking a cautious approach, and developing a view jointly nationally about what the right approach is, and what the right safeguards are," he added.

U.S. health regulators this week approved the first gene therapy for hemophilia, a $3.5 million one-time treatment for the blood-clotting disorder. From a report: The Food and Drug Administration cleared Hemgenix, an IV treatment for adults with hemophilia B, the less common form of the genetic disorder which primarily affects men. Currently, patients receive frequent, expensive IVs of a protein that helps blood clot and prevent bleeding. Drugmaker CSL Behring, based in Pennsylvania, announced the $3.5 million price tag shortly after the FDA approval, saying its drug would ultimately reduce health care costs because patients would have fewer bleeding incidents and need fewer clotting treatments.

According to a study cited by the National Library of Medicine, the price makes Hemgenix the most expensive medicine in the world, easily topping Novartis' Zolgensma gene therapy for spinal muscular atrophy (SMA), which costs right around $2 million per dose and is also a single-dose medicine. Like most medicines in the U.S., most of the cost of the new treatment will be paid by insurers, not patients, including private plans and government programs. After decades of research, gene therapies have begun reshaping the treatment of cancers and rare inheritable diseases with medicines that can modify or correct mutations embedded in people's genetic code. Hemgenix is the first such treatment for hemophilia and several other drugmakers are working on gene therapies for the more common form of the disorder, hemophilia A.

Academics and pharmaceutical companies hope that technology based on human cells will help them phase mice and monkeys out of their labs. From a report: The umbrella term for the new field is microphysiological systems or MPS, which includes tumoroids, organoids and organs-on-a-chip. Organoids are grown from stem cells to create 3D tissue in a dish resembling miniature human organs; heart organoids beat like the real thing, for example. Organs-on-a-chip are plastic blocks lined with stem cells and a circuit that stimulates the mechanics of an organ. "We need to move away from animals in a systematic way," says Salim Abdool Karim, South Africa's leading infectious disease expert. "Thatâ...âinvolves regulators being given the data to show that non-animal biological systems will give us compatible, if not better, information." Nathalie Brandenburg co-founded Swiss start-up Sun Bioscience in 2016 to create standard versions of organoids, which makes it easier to trust that results are comparable, and convince scientists and regulators to use them. "When we started we had to tell people what organoids were," she says, referring to the early stage of her research journey.

In the past two years, and particularly as scientists emerged from lockdowns -- when many had time to read up on the technology -- demand from large pharmaceutical companies for Sun's products has soared, she says. Companies are becoming more interested in reducing their reliance on animals for ethical reasons, says Arron Tolley, chief executive of Aptamer Group, which creates artificial antibodies for use in diagnostics and drugs. "People are becoming more responsible now, from a corporate governance point of view, and looking to remove animal testing when necessary," he says. Using larger animals, such as monkeys, is particularly problematic, Tolley adds. "The bigger and cuter they get, the more people are aware of the impact." Rare diseases are especially fertile ground for models based on human tissues, says James Hickman, chief scientist at Hesperos, an organ-on-a-chip company based in Florida. "There are 7,000 rare diseases and only 400 are being actively researched because there are no animal models," Hickman says. "We're not just talking about replacing animals or reducing animals, these systems fill a void where animal models don't exist."

More than half the UK backs the idea of rewriting the DNA of human embryos to prevent severe or life-threatening diseases, according to a survey. From a report: Commissioned by the Progress Educational Trust (PET), a fertility and genomics charity, the Ipsos poll found that 53% of people support the use of human genome editing to prevent children from developing serious conditions such as cystic fibrosis. There was less enthusiasm for use of the procedure to prevent milder conditions such as asthma, with only 36% in favour, and to create designer babies, with only a fifth expressing support, but views on the technology differed dramatically with age.

Younger generations were far more in favour of designer babies than older people, with 38% of 16- to 24-year-olds and 31% of 25- to 34-year-olds supporting the use of gene editing to allow parents to choose features such as their child's height and eye and hair colour. In the UK and many other countries it is illegal to perform genome editing on embryos that are intended for pregnancies, but the restrictions could be lifted if research shows the procedure can safely prevent severe diseases. Genome editing has been hailed as a potential gamechanger for dealing with a raft of heritable diseases ranging from cystic fibrosis and muscular dystrophy to Tay-Sachs, a rare condition that progressively destroys the nervous system. In principle, the faulty genes that cause the diseases can be rewritten in IVF embryos, allowing those embryos to develop into healthy babies.

Incredible new data presented recently at the European Hematology Association Congress has revealed an experimental CRISPR gene editing therapy is both safe and effective up to three years after treatment. The follow-up results come from one of the longest-running human trials using CRISPR technology to treat a pair of rare genetic blood diseases. From a report: The first human trial in the United States to test CRISPR gene editing technology started back in 2019. The trial focused on two rare blood diseases: beta-thalassemia and sickle cell disease. The treatment involves first gathering stem cells from a patient's blood. Using CRISPR technology a single genetic change is made, designed to raise levels of fetal hemoglobin in red blood cells. The stem cells are then re-administered into the patients. Initial results were extraordinarily promising. The first two patients treated were essentially cured within months, but questions over long-term efficacy remained.

A follow-up announcement last year continued the impressive results with 22 patients treated and all demonstrating 100 percent success. Importantly, seven of those patients were 12 months past the initial treatment with no waning of efficacy. Now, a new data release is offering results from 75 patients treated with the groundbreaking CRISPR therapy, now dubbed exa-cel (exagamglogene autotemcel). Of those 75 patients treated, 44 were suffering transfusion-dependent beta thalassemia (TDT) and 31 had severe sickle cell disease (SCD). All but two of the 44 patients with TDT were essentially cured of their disease, needing no more blood transfusions. The two TDT patients still requiring blood transfusions had 75 percent and 89 percent reductions in transfusion volumes respectively. All 31 SCD patients were also free of disease symptoms at long-term follow-up.

Early in the pandemic, the World Health Organization stated that SARS-CoV-2 was not transmitted through the air. That mistake and the prolonged process of correcting it sowed confusion and raises questions about what will happen in the next pandemic. Nature: According to Trish Greenhalgh, a primary-care health researcher at the University of Oxford, UK, the IPC GDG members were guided by their medical training and the dominant thinking in the medical field about how infectious respiratory diseases spread; this turned out to be flawed in the case of SARS-CoV-2 and could be inaccurate for other viruses as well. These biases led the group to discount relevant information -- from laboratory-based aerosol studies and outbreak reports, for instance. So the IPC GDG concluded that airborne transmission was rare or unlikely outside a small set of aerosol-generating medical procedures, such as inserting a breathing tube into a patient.

That viewpoint is clear in a commentary by members of the IPC GDG, including Schwaber, Sobsey and Fisher, published in August 20202. The authors dismissed research using air-flow modelling, case reports describing possible airborne transmission and summaries of evidence for airborne transmission, labelling such reports "opinion pieces." Instead, they concluded that "SARS-CoV-2 is not spread by the airborne route to any significant extent." In effect, the group failed to look at the whole picture that was emerging, says Greenhalgh. "You've got to explain all the data, not just the data that you've picked to support your view," and the airborne hypothesis is the best fit for all the data available, she says. One example she cites is the propensity for the virus to transmit in 'superspreader events,' in which numerous individuals are infected at a single gathering, often by a single person. "Nothing explains some of these superspreader events except aerosol spread," says Greenhalgh.

Throughout 2020, there was also mounting evidence that indoor spaces posed a much greater risk of infection than outdoor environments did. An analysis of reported outbreaks recorded up to the middle of August 2020 revealed that people were more than 18 times as likely to be infected indoors as outdoors3. If heavy droplets or dirty hands had been the main vehicles for transmitting the virus, such a strong discrepancy would not have been observed. Although the WHO played down the risk of airborne transmission, it did invite Li [a building environment engineer at the University of Hong Kong who suspected early on that SARS-CoV-2 was also airborne] to become a member of the IPC GDG after he spoke to the group in mid-2020. Had the organization not at least been open to his view that infections were caused by aerosols, especially at short range, "they would not have invited me there as they knew my standing," he says.

Scientists have raised concerns about a proposed overhaul of newborn screening that could lead to the UK becoming the first country to offer whole-genome sequencing for every baby. From a report: Speaking before the publication of plans for an NHS pilot study in which up to 200,000 babies' genomes will be sequenced and analysed, scientists suggested the initiative appeared designed to create a valuable health dataset rather than an effective method of improving the diagnosis of rare diseases. Anneke Lucassen, director of the Centre for Personalised Medicine at the University of Oxford, said that if the primary objective were improving newborn screening, there were alternative, more targeted tests that would be cheaper and potentially more reliable.

"If it was really all about [diagnosing more conditions], you could do that through other means," she said. "It's about helping to build the genomics industry in the UK and it's about creating a research resource so we can study people as they grow older." Lucassen said she was not opposed to the pilot, or even necessarily to these objectives, but wanted more transparency, "because otherwise it's sold as something that is not the full picture. The public needs to know that," she added. Sequencing the genomes of all newborns would represent a hugely ambitious upgrade to the routine "heel prick" test that all babies receive at about five days to detect nine serious health conditions including cystic fibrosis, sickle cell disease and various metabolic diseases.

The use of whole genome sequencing could save the NHS millions of pounds, a study suggests, after it found a quarter of people with rare illnesses received a diagnosis for their condition through the technology. From a report: In some cases, the findings have provided reassurance for families that they have not passed their condition on to their children, while in others they have inspired life-changing treatments. Though individually uncommon, rare inherited diseases affect about 6% of the UK population, or roughly 3 million people. Traditionally, geneticists searched for the abnormalities underpinning such conditions by looking at the person's chromosomes through a microscope, but this is no good at spotting tiny, but often highly significant changes, such as single letter substitutions in the genetic code. Because of this, "many of the people who have a rare disease either live very long diagnostic odysseys to get an answer for why they are like they are, or they do not get an answer in their entire lifetime," said Prof Sir Mark Caulfield at Queen Mary University of London (QMUL), a former chief scientist at Genomics England. In 2013, the UK government launched the 100,000 Genomes Project to investigate whether WGS -- which involves reading through the entire 3bn pairs of letters in the human genome -- could help doctors better understand the cause of patients' symptoms, and identify other family members who may be at risk. Five years later, NHS England became the first national health care system in the world to offer WGS to people with undiagnosed rare diseases and cancer as part of routine care.