3 Reasons to Support Rare Disease Research

Many rare diseases are deadly and devastating in a way that inspires urgency and a willingness to try experimental interventions, yet treatments are only available for fewer than 5% of them.

If you have ever been asked to donate your hard-earned money to help research some obscure medical condition, you might have wondered why you should bother. Perhaps you worried your donation wouldn’t make a difference. Or maybe you felt this was someone else’s crusade, and just didn’t care.

Before my own son was diagnosed with one of these obscure diseases, I wrestled with precisely those types of thoughts. And even now, after being unwittingly catapulted into the world of rare disease research and patient advocacy, I often ask myself why I should contribute to causes that may not touch my life in any direct or personal way.

I faced this dilemma a few weeks ago, when my employer announced a corporate fundraiser here in Singapore, where I live, for a local NGO that helps children with rare genetic diseases. As the parent of a child with a rare and potentially debilitating disease, this fundraiser should have been right up my alley, but after filling out some forms and preparing to submit my donation, I hesitated.

Numerous doubts started swirling. Why should I care about this specific cause when there are so many other problems in the world? Didn’t I already give to several other charities this year? And why should I keep going out of my way to help others when I am already under pressure to pay for my own son’s hefty medical costs, most of which are not reimbursed here in Singapore?

I’m sure some of my friends, family, and colleagues faced similar doubts when I asked them to donate to my own fundraiser for Prader-Willi syndrome (PWS), the genetic condition that impacts my son. If you’re one of these people, and you decided not to donate, I won’t hold it against you. But for what it’s worth, here are three reasons why I believe rare disease research is a worthy cause that deserves your consideration.

Rare disease touches all of us

In the United States, a disease is defined as “rare” if it afflicts fewer than 200,000 people. Many diseases are much rarer than that, with some impacting just a handful of people globally. Given such small patient numbers, why invest in conditions that afflict an unlucky few when we can contribute to causes that benefit many?

If you zoom out just a little bit, however, the scale of the problem becomes clearer. Rare diseases are individually uncommon, but collectively affect an estimated 400 million people worldwide. Roughly half of rare disease patients are children. Many will not live to see their fifth birthday. Others will survive but live in pain. Probe around just a little bit in the rare disease community and you’ll find countless stories of immeasurable suffering and loss.

This is no one’s fault. Rare diseases are hard to predict and prevent. Some of them occur randomly and can happen to anyone, no matter how pristine one’s genetics. Others are heritable and can be avoided through carrier screening and preimplantation genetic testing, but such technologies are not accessible to most of us. A few can be detected early through routine prenatal diagnostics and newborn screening, but most are not diagnosed until it’s too late.

Rare disease R&D is like an insurance policy that helps to protect all of us against the slings and arrows of genetic fortune. As with any insurance policy, chances are you won’t need it, but you’ll be very happy to have it if you do.

Market forces alone won’t fix this problem  

While most people will acknowledge that rare disease is an important cause, some might argue that individual donors are not well placed to fund medical R&D. Shouldn’t market forces be left to their own devices?

It’s certainly true that many leading pharma and biotech companies see rare disease as the next frontier for medical innovation and profit-making. More than half of FDA approvals for new drugs in 2021 had an “orphan” designation, and rare disease medicines now account for more than 20% of sales at many big pharma companies, a share that is widely predicted to grow.

Yet much of this activity would not be possible without the dogged efforts of non-profit patient advocacy groups. Often driven by concerned caregivers and citizen-scientists, these organizations help to pool resources, build communities, support early-stage R&D, confer with regulators, and engage in various other activities that entice pharma and device companies to invest in conditions that might otherwise be regarded as too risky.

Public funding also plays a catalytic role in rare disease research, but some believe more government resources are sorely needed—particularly amid the recent pullback and capital crunch in biotech equity markets. As the CEO of Global Genes, a rare disease advocacy group, noted in a recent editorial, “there is no Operation Warp Speed for rare diseases; no Moonshot; no multinational or multi-billion dollar coordinated treatment development effort.”

Rare disease R&D generates scientific progress

As with all types of R&D, rare disease research drives scientific and technological progress that benefits all of us—not just those affiliated by rare conditions. But why might rare disease be a particularly fertile ground for medical discovery?

One reason is that most rare diseases are genetic in origin, providing clear use cases for fast-evolving diagnostic and therapeutic modalities like gene therapy and sequencing (check out this recent Techonomy Q&A with Dr. Phil Reilly, a decorated biotech entrepreneur and clinical geneticist, for an inspiring discussion of some of the innovations on the horizon). Many rare diseases are also deadly and devastating in a way that inspires urgency and a willingness to try experimental interventions.

Yet despite decades of scientific progress, treatments are available for fewer than 5% of the thousands of rare diseases that have been characterized in the medical literature. We are still only scratching the surface of what’s possible, so the next time someone invites you to donate to a rare disease fundraiser, consider taking a moment to open your heart and your wallet. In the end, I was happy to pony up to help that local NGO’s work.

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Could Nasal Vaccines Help Prevent Covid?

Pairing injected Covid vaccines with a nasal one might offer a path out of the pandemic by inducing immune protection and, importantly, blocking transmission of the virus.

The speed at which highly effective Covid vaccines were developed was almost miraculous. But here we are, two-and-a-half years into the pandemic, and the vaccines we thought might end our global nightmare have not done so. One of the biggest reasons is that current vaccines, while excellent at preventing severe disease, generally do not prevent transmission of the virus.

Scientists who study the inner workings of our immune system have pushed throughout the pandemic for different delivery strategies. Current vaccines are designed for intramuscular delivery — that arm jab many of us have experienced. This approach induces the creation of antibodies that circulate throughout our body, triggering an immune response that protects us when viruses enter cells in our bloodstream, organs, and other tissues.

But many immunologists argue that these vaccines miss an important opportunity to defend us at the place where the virus typically first attacks us: the mouth and nasal passages. Those widely-circulating vaccine-triggered antibodies rarely make it to these areas with mucosal linings, biological zones where defenses are typically marshaled through sticky mucus more than through circulating antibodies. What if we could deploy antibodies as gatekeepers at our most vulnerable entry points, not only to protect against infection but also to prevent transmission? This could address what scientists Eric Topol and Akiko Iwasaki called today’s “leaky” vaccines in a recent Science editorial.

The concept isn’t new to the vaccine world, but it remains largely unproven. There is one FDA-approved nasal vaccine today — FluMist, a flu vaccine that’s sprayed up the nose but is not recommended for groups including the immunocompromised, pregnant, or those older than 50. Even scientific champions of nasal vaccines acknowledge that significant progress must be made in developing and testing this type of vaccine before it can become more common. Most nasal vaccines haven’t even yet reached phase 3 trials, so there isn’t good data about their effectiveness over extended periods (though scientists hope they will remain effective for long periods like injected vaccines do).

But Covid has spurred renewed interest, and scientists around the world have made tremendous efforts to overcome existing challenges. Globally there are now at least a dozen nasal Covid vaccines in clinical trials; four have reached phase 3 trials, which are generally the final step before a vaccine can be submitted for regulatory review with a health agency.

At Yale University, scientists including Iwasaki have proposed an approach they call “prime and spike.” The method would start with the usual intramuscular Covid vaccine to achieve systemic protection, then be followed by a nasal vaccine, to deliver strong protection in the respiratory tract. Their paper, which has not yet been published in a peer-reviewed journal, reports results from a study in mice that elicited a robust immune response throughout the body and specifically in the mucosal respiratory tissues. Other research teams have reported similar findings.

“The world desperately needs a vaccine strategy that places immunological guards outside the gates to prevent viral invaders from infecting us,” Iwasaki wrote in a New York Times opinion piece. “While there are some remaining obstacles, the potential immunological and public health benefits of nasal spray vaccines are worth focusing on now and for years to come.”

But the new group of nasal vaccines has not received the levels of government funding and fast-tracked development that were showered on the first batch of Covid vaccines, and that is limiting the pace of progress. That’s why scientists like Topol and Iwasaki are now calling for a program like Operation Warp Speed to accelerate the development of nasal vaccines for Covid.

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Treating Rare Diseases at Birth and Before: Dr. Phil Reilly

In his latest book, clinical geneticist and biotech entrepreneur Dr. Phil Reilly chronicles centuries of medical progress that have contributed to recent breakthroughs in rare disease medicines, diagnostics, and clinical care. He says we’re just at the beginning.

In Orphan: The Quest to Save Children with Rare Genetic Disorders, clinical geneticist and biotech entrepreneur Dr. Phil Reilly chronicles centuries of medical progress that have contributed to recent breakthroughs in rare disease medicines, diagnostics, and clinical care. Yet Reilly also describes a field that is only just beginning to find solutions for the wide spectrum of rare genetic diseases that cause suffering, disability, and untimely death in millions of people around the world.

Written in 2015, much of Dr. Reilly’s book is still relevant today, but many aspects of the field have changed markedly. In this conversation with Techonomy, Reilly explains what’s changed.

What exactly are rare diseases and why do they matter?

The term “rare disease” was defined legislatively in the Orphan Disease Act in the 1980s as a condition that affected less than 200,000 people in the United States. These include many genetic diseases, as well as some types of cancer that meet the legislative criteria. These diseases are rare individually, but collectively they’re common. There are literally thousands of rare diseases, and by some estimates, as many as 5-10% of people in the US have their lives touched by one of these disorders directly.

Why is the early and accurate detection of a rare disease so important in the management of these conditions, especially for children?

If a disease is rare, we know comparatively little about it and even less about what it’s like pre-symptomatically. This is why it often takes time—sometimes several years—to get the correct diagnosis. This is what many call the “diagnostic odyssey,” where the parents of a child with a rare disorder go from one medical center to another trying to find out what’s wrong. Early diagnosis helps to keep the diagnostic odyssey short, saving time and resources for parents to provide treatment or intervene with clinical trials if possible.

Another reason why early diagnosis is important is that many rare genetic diseases are autosomal recessive, meaning each parent must contribute one mutated gene to the embryo. In these cases, parents have a 1 in 4 recurrence risk that their next baby will also be affected by the same disease. By diagnosing early, you can alert families to this recurrence risk, and then they can avoid the birth of a second affected child, such as by choosing adoption, going through preimplantation genetic diagnosis, and things like that.

What are some of the new innovations in rare disease diagnostics that you find most exciting?

I would begin with whole exome and whole genome sequencing [WGS], which are revolutionizing the diagnosis of mysterious diseases in the newborn intensive care unit. Many leading medical centers are already using sequencing to help understand what’s wrong with the very sick babies they can’t diagnose. This is not quite yet the standard of care, but it’s getting very close.

There are also significant advances in prenatal diagnosis. I’m not so much referring to the standard non-invasive prenatal testing [NIPT] technologies, which still work at a pretty crude level to find things like extra chromosomes or big genetic deletions. I think in the next few years we will have tests that will be able to analyze the entire fetal genome by capturing fetal cells from maternal blood and warning a woman very early what the problem is and what she might do about it.

One thing this enables is the notion of “prenatal therapy,” which began to develop in the years since my book was published. This is the idea of providing therapy to the fetus before it is born, which might be more effective than doing so after birth. I am optimistic that new therapeutic technologies like CRISPR, gene editing and gene therapy will be a part of this story, although we still haven’t solved many of the problems of these approaches.

How might improvements in rare disease diagnostics impact the traditional newborn screening programs that are widely used today?

Let me be blunt: I am dissatisfied with the state of newborn screening [NBS] in the world today. Most NBS tests today are based on a technology called tandem mass spectroscopy [TMS] which looks at blood analytes, meaning the products of different proteins. With this, we can screen for 60 or so rare disorders, but this is less than 1% of the universe of known rare genetic disorders.

TMS was a great advancement, but it has been around for almost 30 years. To me, it is inevitable and should be the case that all newborns should have their genomes sequenced to look for severe disorders.  And I think that it is certain it will happen, largely because the cost of WGS continues to fall, and I now talk to groups who think they can do a deep coverage of the baby’s genome for $500. That’s cheaper than even one MRI.

I feel very strongly that there must be a revolution in NBS, and I want it to happen now. We really need to address this problem at a national level. We will save hundreds of thousands of lives each year if we do it.

What are some of the bioethical concerns that universal newborn sequencing presents and how do we handle it?

I was twice the President of the American Society of Law and Ethics for Medicine and I was dealing with these issues in the 80s, so there is nothing new about them. The major concern is making certain that acquiring this information will benefit the child. In the past 20 to 30 years, there were lots of worries about genetic discrimination, such as in access to healthcare or life insurance. There is a federal law that was enacted many years ago that forbids health insurers to discriminate based on genetic predispositions, though there is no such law for life insurance.

Another concern is in how genetic information might affect the dynamics of the family structure. For example, I remember people saying that they didn’t want to screen for muscular dystrophy because it doesn’t appear until one or two years of life, so why not let the parents have a year or two where they think the child is completely healthy. But the earlier we can study people that are at risk for the disease, the better our chances of us doing something important to help them.

Of all the new therapeutic modalities that are being developed for rare diseases, which ones excite you most?

I’m a believer that gene therapies are going to make a huge difference in the long run. I know that it’s been slow coming, as we’ve been talking about them for 20 or 25 years, and there have been setbacks, plus ongoing questions about the durability and safety of these therapies. But when I step back and look at literally the hundreds of companies working on these issues, I’m pretty confident that they’re going to change the lives of patients—not only for ultra-rare diseases, but common ones too. I don’t think we are quite there with the CRISPR technology because it has off-target effects, but I think that’s going to be beneficial too.

The bigger problem is that there may be as many as 10,000 single gene disorders, and many of them are so rare and so devastating neurologically that there will be very little commercial incentive to develop drugs for them, so I think avoidance of certain diseases through carrier testing and prenatal diagnostics is going to become ever more important. While it’s not a therapy, we have to think about it as an approach to the overall problem of the burden of genetic disease.

What about the concept of customized or “N-of-1” therapies for those ultra-rare genetic diseases?

Nowadays, with a few million dollars, one can probably construct a company to treat a single child with a custom or N-of-1 medicine. My venture firm Third Rock has an internal project we used to call N-of-1 and we now call EOM, or Everyone Medicine. I gave it my support, but it definitely raises some ethical questions. Is N-of-1 medicine only going to be available to the people with the right education and connections to help their children? How does the average person with a child that has an ultra-rare disease negotiate the system for N-of-1 medicine? These will be difficult questions to resolve.

What is the reimbursement landscape like for the newer rare disease medicines, the ones that offer curative potential but cost hundreds of thousands or even millions of dollars?

For most ultra-rare disorders, the most expensive medicines may only treat 50 or 100 children in the US. If the FDA approves the therapy, most insurance companies in the US will accept the cost and pay for therapy, but across each individual insurance company, their burden of payment may be only 1 or 2 patients. So, while these medicines are very expensive, big insurance companies can easily absorb the cost because they have so many other people paying into the system.

Some people worry that there will be so many therapies that the system can’t handle them all. Realistically, I don’t think there will be more than a hundred approved FDA therapies for ultra-rare diseases in the next 10 years, so I think we have time to work it out. The reimbursement issue certainly has not dissuaded gene therapy companies. Every gene therapy company in the marketplace believes it is going to be paid.

I also think that the cost of therapy will gradually come down. You might start out treating some rare disease when there’s only 10 or 30 people getting treated, but the more you look the more cases you find, especially if you go international. We also need to recognize that sometimes these gene therapies won’t be much cheaper than existing therapies.

What else are you working on today?

I’m in my 70s and I’m never going to retire, and I’m going to remain focused on genetic disease. I was a venture partner full-time at Third Rock Ventures from 2008 to 2019, but now I’m half time. My main project with them now is to try and develop a company that will offer whole genome sequencing to a variety of populations including newborns in the private sector.

Outside of Third Rock, I like to help start companies that are highly focused. Biotech ventures like platform companies, but I still think there is a place for companies that zoom in on just one disease. I’m also working on a prenatal diagnostics company called Luna Genetics that focuses on finding fetal cells in the mother’s blood and sequencing those cells to identify serious disease at only 8 or 9 weeks, which could make amniocentesis unnecessary. That’s my most exciting project.

The Q&A was conducted by longtime Techonomy contributor Will Greene, a Singapore-based healthcare writer and strategy professional. He currently serves as Healthcare Engagement Manager at Roche Diagnostics Asia Pacific, where he drives thought leadership for Lab Insights, a data hub and educational content platform for the clinical lab community. Follow him on LinkedIn or Twitter for more content about healthcare innovation, including a forthcoming series about newborn screening and rare disease diagnostics.

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3 Reasons to Support Rare Disease Research

In his latest book, clinical geneticist and biotech entrepreneur Dr. Phil Reilly chronicles centuries of medical progress that have contributed to recent breakthroughs in rare disease medicines, diagnostics, and clinical care. He says we're just...

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In his latest book, clinical geneticist and biotech entrepreneur Dr. Phil Reilly chronicles centuries of medical progress that have contributed to recent breakthroughs in rare disease medicines, diagnostics, and clinical care. He says we're just...

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In his latest book, clinical geneticist and biotech entrepreneur Dr. Phil Reilly chronicles centuries of medical progress that have contributed to recent breakthroughs in rare disease medicines, diagnostics, and clinical care. He says we're just...

‘Soil Isn’t Forever’: Biodiversity Needs Protection Below the Ground

In his latest book, clinical geneticist and biotech entrepreneur Dr. Phil Reilly chronicles centuries of medical progress that have contributed to recent breakthroughs in rare disease medicines, diagnostics, and clinical care. He says we're just...

‘Soil Isn’t Forever’: Biodiversity Needs Protection Below the Ground

We know more than ever about the abundance of life in the soil. Now we have to step up to save it.

Look down. You may not see the soil beneath your feet as teeming with life, but it is.

Better scientific tools are helping us understand that dirt isn’t just dirt. Life in the soil includes microbes like bacteria and fungi; invertebrates such as earthworms and nematodes; plant roots; and even mammals like gophers and badgers who spend part of their time below ground.

It’s commonly said that a quarter of all the planet’s biodiversity lives in the soil, but that’s likely a vast understatement. Many species that reside there, particularly microorganisms such as viruses, bacteria, fungi and protists, aren’t yet known to science.

“Published literature has only just begun to unravel the complexity of soil biological systems,” a 2020 study by researchers from University of Reading found. “We barely know what is there, let alone their breadth of functional roles, niche partitioning and interaction between these organisms.”

But what scientists do know is that healthy and biodiverse soil communities support a wide variety of functions that sustain life on Earth. That includes nutrient cycling, food production, carbon storage and water filtration.

What happens belowground supports life aboveground. And not surprisingly, if that underground biodiversity is threatened, so are the important functions that soil performs.

“When soil organisms begin to disappear, ecosystems will soon start to underperform, potentially hindering their vital functions for humankind,” wrote researchers in a 2020 Science study.

Threats

Unfortunately there’s evidence that soil biodiversity is decreasing today — how badly is still a matter researchers are working to determine. By just one metric, studies found that 60–70% of soils in the European Union are now unhealthy.

The threats there — and across the world — are numerous.

The Reading University researchers narrowed them down to five main areas:

  • Human exploitation, including intensive agriculture, pesticides, fertilizers and genetically modified organisms.
  • Land-use change like deforestation, habitat fragmentation, and soil sealing.
  • Soil degradation from compaction, erosion, and loss of nutrients.
  • Climate change, which influences temperature and moisture.
  • The growing threat from plastic pollution.

“Land changes [like intensive agriculture] are right up there with climate change,” says Diana H. Wall, a biology professor at Colorado State University and director of the School of Global Environmental Sustainability. “Because what we’re doing is tearing up the soil. And that’s the habitat for all these species.”

When we lose biodiversity in the soil it leads to a decrease in the soil’s ability to withstand disturbances — that could cause a loss of important functions and even more biodiversity.

Knowledge Gaps

Much like new molecular tools have helped researchers understand the microbiome in people’s guts, scientists can now also learn much more about the tiny organisms living in the soil, says Wall. But while research about soil biodiversity is growing, there are still significant knowledge gaps.

2020 study on “blind spots” in global soil biodiversity and ecosystem function found that most research focused on a single sampling event and didn’t study how soil changed in the same area over time, which the authors say is “essential for assessing trends in key taxa and functions, and their vulnerability to global change.”

The research has also been geographically unbalanced, they found. Temperate areas, which include broadleaved mixed forests and the Mediterranean, have received more study than many tropical areas, tundra or flooded grasslands.

This is not a new problem: Another study revealed that we lack historical information on soil biodiversity that would make it possible to understand baselines on previous land cover and local drivers of biodiversity. Without understanding past conditions, it’s not clear how things are changing or why.

Knowledge gaps aren’t just limited to science, either. When it comes to policy, national and international bodies lack systematic ways to monitor and protect soil biodiversity.

“At the global scale, soil biodiversity is still a blind spot: most Parties of the Convention on Biodiversity neither protect soils nor their biodiversity explicitly,” found a study published in April in Biological Conservation.

Taking Action

Efforts to better study and protect soil biodiversity have begun to ramp up.

One is the Soil Biodiversity Observation Network (Soil BON), co-led by Wall, which is a coordinated global project to monitor soil biodiversity and ecosystem function to help inform policy.

Wall also leads the Global Soil Biodiversity Initiative, a volunteer scientific network of more than 4,000 researchers who are studying the vulnerability of belowground biodiversity. The group recently sent a letter to the United Nations Convention on Biological Diversity urging action to protect soil biodiversity.

“Knowledge of the importance of the vast diversity of fauna and flora that inhabit soil and sustain all life aboveground should be recognized and included in global policies for the protection, restoration, and promotion of biodiversity,” the group wrote.

Europe isn’t waiting for the U.N. to take action.

The Farm to Fork Strategy, part of the European Green New Deal, calls for better soil protection, including cutting pesticide use in half by 2030. The European Union also launched the Zero Pollution Action Plan for Air, Water and Soil that aims to improve soil quality. And the EU could push further action with a planned Soil Health Law in 2023.

And while soil health demands more big government efforts, there are a lot of changes at the local level and by industries that could help.

In urban areas, pavement that has sealed off soil can be removed and replaced by vegetation. The construction of green roofs and gardens rich in plant diversity can aid soil biodiversity, too.

Farmers, Wall says, have also expressed increasing interest in soil regeneration and carbon sequestration. “There are definitely things that you can do to return the organic matter to the soil,” she says. “What we want is good cover for soil so it doesn’t blow away or wash away. And we also want to make sure that we’re not just cutting vegetation down to bare ground.”

Society also needs to be mindful of the chemicals that we use in our homes, farms and cities, she says: “Pollution in soil is very bad for the organisms that live in the soil, and it’s bad for any that may have a pupating cycle in the soil.”

Soil biodiversity can recover after industrial or agricultural sites are taken out of production, but it may happen slowly and require specialized restoration efforts. In those cases, “microbial transplants together with seeding of target plant species might help speed up these processes,” suggests a 2019 study co-authored by Wall. “Even small changes, which often come at little monetary cost, may increase soil biodiversity and ecosystem services.”

And an even smaller change is also important — getting people to notice and appreciate the role healthy soil plays in our lives and why it’s so vital we protect it.

“Something that we really ought to realize is that soil isn’t forever,” Wall says. “Soils are vulnerable, and we know that worldwide. Pay attention to the life beneath your feet — it’s fragile.”

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Scientists Strive for Negative Emissions

New Solid Carbon technology might be able to lock climate-warming carbon dioxide below ocean bedrock.

What if scientists could turn back the clock on greenhouse-gas emissions – just a little? A new process could lock carbon dioxide below the ocean floor, allowing valuable time to reduce the atmospheric greenhouse gases driving climate change.

In 2024 a Solid Carbon pilot at Cascadia Basin off Canada’s Vancouver Island will set out to prove gigatons of captured carbon dioxide can be stored permanently as rock within the subsea floor. Scientists in Iceland have already shown carbon dioxide can be turned into rock: when they injected dissolved carbon dioxide into basalt, the carbon dioxide mineralised – turned to rock – within two years.

The Solid Carbon process will work by capturing carbon dioxide from industry, or extracting it from the atmosphere using direct air capture technology, and injecting it into basalt that lies tbelow a thick layer of sediment deep on the ocean floor. There the carbon dioxide will bind with dissolved basalt minerals – calcium, magnesium and iron silicates – and transform into carbonate rock. Up to 800 metres thick, the sediment will keep a lid on the carbon dioxide and allow time for the basalt to react and the transformation to take place.

Geochemical simulations by the Solid Carbon team indicate gigatons of carbon dioxide can be stored when plumes of carbon dioxide are injected into deep-ocean basalt. The next challenge is to prove the process works outside the lab. A permanent injection structure will provide an initial demonstration at Cascadia Basin. Once the process has been shown to work, the structure could make continuous injections over a set time.

When scientists in Iceland injected dissolved carbon dioxide into basalt, the carbon dioxide mineralised – turned to rock – within two years. Image credit: Pacific Institute for Climate Solutions.

Basalt is porous rock formed from cooling lava. The basalt in the Icelandic experiment was on land, but 90 percent of the planet’s basalt is found in the ocean – it makes up most of the world’s oceanic crust. That means the Solid Carbon technology could be used at sea anywhere.

Powered by renewable energy, Solid Carbon will bring together existing technologies including carbon capture, offshore drilling, pipelines and injection wells. In this way oil and gas companies could transition into the sustainable ‘blue economy’ by applying their skills and technology to carbon solutions instead of fossil-fuel extraction.

​​Results here are much slower than in the Iceland experiments, but the Solid Carbon simulations show gigaton-scale carbon-dioxide storage will work without the effort, cost and environmental impact of dissolving carbon dioxide in huge amounts of water before it is injected. This opens the door to large-scale carbon storage.

And solutions on this scale are urgently needed. Human activity adds more than 50 gigatons of carbon dioxide to the atmosphere each year. There is enough sub-ocean basalt worldwide to store 100,000 to 250,000 gigatons of carbon dioxide, making Solid Carbon a potentially transformative negative-emissions technology in the fight against climate change.

But Solid Carbon is no get-out-of-jail-free card.

Negative-emissions technology is not an excuse to prolong the use of fossil fuels. There is still an urgent need to get to net-zero emissions. All scenarios where the average global temperature increase is limited to 1.5°C above pre-industrial levels (to meet the Paris Accord) involve negative-emissions technologies alongside rapid decarbonisation.

The million-dollar question is: when will Solid Carbon be ready to launch? This decade the first stage will likely target difficult-to-decarbonise sectors such as concrete production. Longer term, once the technology can capture gigatons of carbon dioxide from the atmosphere, direct air capture could be used on a floating drill platform at sea.

Solid Carbon technology could make a significant dent in atmospheric carbon dioxide, which drives Earth’s temperature increases. When it’s locked below the ocean, carbon dioxide is no longer adding to global warming.

Humans urgently need to reduce greenhouse-gas emissions and scale down reliance on carbon. Solid Carbon might buy precious extra time to do this.

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Covid Changed the Game in Disease Detection

From wearables to wastewater, the Covid pandemic has spurred important innovations in how we detect infectious disease. The benefits will likely be felt for years.

For more than two and a half years, the Covid pandemic has continually challenged us to keep finding new and better ways to detect infection. Had we been able to do that reliably when the virus first emerged in humans, doctors and public health experts might have prevented the pandemic entirely.

Still, though, scientists and technology developers have used this period to test out a number of novel infection-detection approaches. From wearables to wastewater surveillance, these approaches are providing new insights into how to track, predict, and rein in viral transmission. Ultimately, they will prove useful not just for the ongoing pandemic, but for infectious diseases writ large.

Wearables

In a recent publication, scientists in Europe reported the ability to detect Covid infections in people two days before they developed symptoms — a crucial period during which people could be infecting others without even realizing they have the virus. This study, which included nearly 1,200 participants, focused on a medical device called the Ava bracelet that is designed to help women track fertility patterns. The bracelet analyzes respiratory rate, heart rate, temperature, and other factors. Scientists captured the data from all participants and used a machine-learning approach to identify unique changes among the women in the study who tested positive for Covid. The upshot: their algorithm identified 68 percent of women with Covid based on data collected two days before they began to develop symptoms.

While intriguing, the study isn’t the first of its kind. Throughout the pandemic, scientists have been testing a number of wearable devices to see whether the data they capture could help spot infection. Late last year, scientists from Stanford University reported an 80 percent success rate in identifying pre-symptomatic and asymptomatic participants who developed Covid. That study was based on data collected from Fitbits or Apple Watches and analyzed with a real-time alert system built by the scientific team.

Covid-Sniffing Dogs

What this detection technique lacks in scalability, it makes up for in cuteness. Over the years, researchers have trained dogs to sniff out many different things — most famously bombs and illegal drugs — but now those sophisticated noses are being used in the pandemic. A number of studies now demonstrate that dogs can accurately sniff out cases of Covid, even when infected individuals have no symptoms.

A recent report from scientists in Finland showed that dogs trained to detect Covid performed extremely well at identifying samples from infected people. In blind studies of more than 400 samples, the dogs had an overall accuracy of 92 percent.

Bluetooth-Connected Thermometers

Early in the pandemic, employees of a company that sold a smart thermometer — a digital thermometer connected to a phone app that sent data back to the company — noticed something odd. It turned out they could see spikes in Covid cases in certain geographic regions, sometimes weeks before case numbers in those regions began to rise.

In an interview with Techonomy earlier in the pandemic, Kinsa Health CEO Inder Singh told David Kirkpatrick that these thermometers, used in 2 million households in the U.S., were collectively providing data about where Covid surges would hit three weeks in advance. At the time, public health officials dismissed Singh and his data because it didn’t match what the limited laboratory testing showed at the time. But since then, the aggregated signals of these thermometers have proven a good ongoing indicator of local outbreaks, which the company now offers to the public via its HealthWeather website.

Covid Signals in Wastewater

While most Covid tests are designed to analyze what’s up our noses, some intrepid scientists have focused on what comes out the other end. By sampling a community’s sewage — less disagreeably known as wastewater — lab teams have been able to generate insights about where Covid is surging or dying down, which variants are most common, and asymptomatic infections that are not typically caught with tests.

Wastewater surveillance can be an early indicator that the number of people with COVID-19 in a community is increasing or decreasing. Image credit: CDC

Wastewater surveillance for infectious disease is not new, but prior to the pandemic it was performed at the local level and data did not often feed into higher-level repositories. In September 2020, the CDC created the National Wastewater Surveillance System to connect these local efforts and encourage common reporting measures. Today, results from that network can be viewed at the country, region, and county level. Many other countries have coordinated similar programs.

The same approach can be used for more targeted communities, and has been tested at several universities. A recent comparison of wastewater data with saliva testing at Ohio State University, for example, showed that wastewater sampling provided an accurate view of Covid trends in the university population.

While no one approach has been a silver bullet, collectively these techniques have significantly improved our abilities to detect not just Covid but a range of infectious diseases. As more viruses spill over from other species in coming years, as scientists expect, early detection will be essential for maintaining human health.

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Congressional Committee Finds Trump Covid Efforts Guided by Politics, Not Health

It points to the influence of one man, Scott Atlas, who had no qualifications for overseeing pandemic response. He undermined testing and mask-wearing, among other errors, the report recounts. Former response coordinator Deborah Birx says administration errors may have cost 130,000 lives.

This is a story about a U.S. House of Representatives select committee’s investigation — but not that House committee’s investigation.

While one committee in the House has been publicly reporting on findings from its investigation of the January 6th insurrection, another select committee (technically a subcommittee) has been much more quietly investigating another disaster: the federal government’s initial response to the Covid-19 pandemic. This month, they issued the first of several reports about what they have learned in the past two years. With so much other news, though, it has mostly gone unnoticed.

“The Select Subcommittee’s investigation has revealed extensive evidence of the Trump Administration’s efforts to undermine the nation’s public health response to the coronavirus crisis in an attempt to benefit the former president politically,” said Rep. James Clyburn (D-SC), chairman of the subcommittee, in a statement. “This dereliction of duty resulted in significant loss of life that could have been prevented.”

In addition to Rep. Clyburn, the subcommittee includes six other Democratic and five Republican Congresspeople. The group has investigated activities of senior officials in the Trump administration, and its first report is laser-focused on the consequences of efforts by one man: Scott Atlas, a radiologist with no infectious disease expertise who was working at a conservative think tank when the pandemic began. Not long after, he was named special advisor to the president, who saw him on Fox and had been impressed.

As early as March 2020, Atlas was a vocal opponent of any measure to rein in the spread of the virus. He reached out to Seema Verma, head of the Centers for Medicare & Medicaid Services, on March 21 that year, “arguing that the federal government’s pandemic response was ‘a massive overreaction’ that was ‘inciting irrational fear’ in Americans,” the report says. He predicted at the time that Covid would lead to 10,000 deaths.

While Atlas’s opinions were contrary to the consensus view of scientists, epidemiologists, and infectious disease experts, they were welcomed by an administration eager to downplay the pandemic, the House subcommittee found. But apparently even White House officials were aware that Atlas’s contrarian views might not go over well with others: according to the report, Jared Kushner hired Atlas in July 2020 but deliberately concealed that for several weeks. Kushner told Atlas not to announce himself on conference calls he joined, for instance, and to hide his White House identification card when meeting with at least one other member of the pandemic response team.

In addition to encouraging the scientifically unfounded concept of achieving herd immunity through deliberate mass infection — an idea that had already received “widespread rejection … by the mainstream scientific community,” the report says — Atlas also actively worked to reduce testing among the public. According to a memo obtained by the subcommittee, Atlas argued that widely available testing “sets up an unattainable goal that is harming this president.”

“New evidence obtained by the Select Subcommittee shows that Dr. Atlas set in motion significant changes to CDC’s testing guidance within days of arriving in the White House that would upend CDC’s public health recommendations by minimizing the need for widespread testing and undercutting policies that could mitigate the spread of the coronavirus,” the report says.

Those efforts had the desired effect. According to testimony from Deborah Birx, who served during that time as White House coronavirus response coordinator, the CDC guidance changed by Atlas in August 2020 led to a “dramatic decline of the number of tests performed during the end of August and the beginning of September.” Eventually, the CDC reversed course and went back to the previous guidance recommending testing.

In addition, Atlas told White House officials, inaccurately, that masks were not effective, and that this was supported by research studies, according to the report.

“With Dr. Atlas’s influence fully entrenched, the Trump White House did little to attempt

to curb the spread of the coronavirus in the fall and winter of 2020 and early 2021—even

as outbreaks surged across the country,” the subcommittee reports. “With Dr. Atlas providing a veneer of scientific backing for inaction to protect public health, the Trump Administration instead focused on downplaying the threat of the virus leading up to the November presidential election.”

Birx told the subcommittee “that more than 130,000 American lives could have been saved after the first wave of the pandemic if President Trump and his Administration had implemented ‘optimal mitigation across this country,’” the report adds.

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It’s Time to Scale Up Regenerative Farming

Regenerative agriculture has the potential to transform lives and diets. The Cellular Economy has the potential to transform society. Let’s find ways to fund them to make the global food system and economy more sustainable.

A half-decade ago, Nick DiDomenico’s parents bought a small property north of Boulder, Colorado. They handed a dilapidated house and 14 acres over to him to help fulfill his dream of becoming an organic farmer. Nick gave the farm an appealing name, Elk Run. But in fact the prairie land was horribly degraded. Its topsoil had been eroded by wind and rain, and the property was essentially a parched wasteland. Advisors from the U.S. Department of Agriculture advised Nick that the land was unsuitable for growing crops.

Six years later, DiDomenico and a small group of allies—with help from funders—have done the seemingly impossible: They transformed a wasteland into a veritable Garden of Eden. DiDomenico, his partner, Melissa Pulaski, and a handful of others are raising pigs, sheep, chickens, and rabbits and producing organic vegetables and grains. The non-profit organization that DiDomenico and Pulaski established, Drylands Agroecology Research, explores regenerative agriculture techniques and provides consulting and land reclamation services for other property owners along Colorado’s Front Range.

“The overarching goal is to create many more safe havens for healthy food and healthy lifestyles,” DiDomenico says. “We want to help people all over the region produce food locally and we want to promote good commercial ventures that strengthen our communities. We want to get away from the extractive economy.”

Their project illustrates a phenomenon that is underway across the United States and across the globe. People in small groups are reimagining and rebuilding the economy one experimental step at a time. Many of them share the belief that capitalism as it is being practiced today is unsustainable. It’s destroying the environment and contributing mightily to global warming. And capitalism is causing a breakdown in society because of the inequities it engenders. So, it’s time to pivot and adopt new approaches that will help make the planet and society more sustainable.

This phenomenon got its start with the social-enterprise movement in the early 2000s, but it seems to have accelerated since the COVID crisis woke people up and convinced them that now is the time to make bold changes in how we live.

I have been exploring the evolution of this phenomenon since the rise of COVID. It was then that I became involved in an initiative called Pivot Projects, a global, all-volunteer collaboration aimed at using collective intelligence, systems thinking, and AI-assisted research to help society and communities become more sustainable and resilient. I started off as a journalist embedded in Pivot Projects and later became a full participant. Late last year, Columbia University Press published my book about the group’s journey: The Pivot: Addressing Global Problems Through Local Action.

One of the 20+ workstreams within Pivot Projects took on the subject of building a sustainable and just economic system—an alternative to the present system, which is based on greed, maximizing profits, and exploiting workers and resources. Rather than thinking about a revolution, which hardly seemed likely, the group took aim at defining and encouraging a new way forward. Out of that quest came a concept called the Cellular Economy.

The “cells” are small groups of people dedicated to pioneering new approaches to serving people’s needs. They’re democratic, humanistic, science-based, diverse, collaborative, community-oriented, and experimental. Some are mission-driven businesses. Others are social enterprises or community organizations. “We need a fundamental shift in the very foundation of capitalism as it is practiced today,” says Damian Costello, an expert in disruptive innovation who coordinates Pivot Projects’ economics workstream. “The Cellular Economy model describes what we need to do to make this brighter, safer future a reality.”

Right now, most of these initiatives operate in isolation. The economics workstream participants believe that to fulfill their potential, the cells will have to form into networks that enable them to more readily share resources and knowledge. Nick and his colleagues have already begun reaching out to other farmers and landowners in and around Boulder whose visions and missions are aligned with theirs. He refers to this as a “mycelial network.” That’s a reference to the role that fungal mycelia play in maintaining healthy forests. The mycelia tap into tree roots, connecting individual plants together to transfer water, nitrogen, and other nutrients to where they are needed most. Essentially, these networks enable trees to collaborate with each other and live in harmony. It’s a good metaphor.

The knowledge about regenerative agriculture that DAR is sharing with others comes partly from research but mainly from experimentation on the farm. The Elk Run land is sloped, and, in the old days, water from infrequent rain and snow episodes tended to slide off it without being absorbed. Nick and his team cut ditches across the slopes to capture and store water. They planted trees in the ditches to create shade, produce fruit, and provide habitat for insects and birds. The pigs serve as roto-tillers for the degraded soil—breaking it up with their hooves and snouts and peppering it with manure. Then come the sheep and chickens and more manure. Over time, the soil is enriched to the point where it can support vegetable and grain crops.

Today, this approach produces 90% of the food that the small group needs to survive. In the future, Elk Run plans on selling produce to others. But the bigger goal is to help other landowners improve their land and produce healthy food at scale. Within 10 years, DiDomenico and friends hope to be managing 1000 acres or more using regenerative methods, to establish 10 regional hubs based on their model, and to have planted 100,000 trees. “As a Front Range community, we can build incredible resilience,” he says.

Regenerative agriculture emerged in the late 20th century as an alternative to industrial farming, with its focus on chemical inputs, monocultures, and processed food. The practice has come on strong in the past decade as farmers became more sensitive to environmental concerns and climate change. The focus is on strengthening the vitality of farm soil, increasing biodiversity, and improving the water cycle.

The COVID crisis has been a wakeup call. “People all over the world tell us they want clean air, more decentralized affordable energy, water and waste systems, and a regenerative economic model in which people live closer to nature,” says Peter Head, a leader in the sustainability field and co-founder of Pivot Projects. “Regenerative farming is a key part of recovery.”

Pivot Projects has launched regenerative agriculture projects aimed at aiding small farmers in partnership with local groups in Nepal and central Africa, in both the Democratic Republic of Congo and Uganda. Advances in technology are now available for farmers in remote areas, including solar for electricity and Starlink LEOS for telecommunications, but funding remains a challenge. Microfinance systems are of limited use for scaling up production, and small farmers have little access to larger grants and loans, says Colin Harrison, a former IBM executive and co-founder of Pivot Projects. The good news is that the African team has been awarded an initial $25,000 grant by the UN Food Systems organization to cover the costs of strategy development.

Back in the USA, DAR and other cellular outfits face funding challenges of their own. DAR has been fueled mainly by GoFundMe campaigns and small grants from foundations and individuals, but that’s not enough for it to scale up quickly and have a sizable impact. New funding sources and innovations are needed. We need impact investors to step up and do their part.

I asked Ian Abbott-Donnelly, one of my colleagues in Pivot Projects, to do some research into the matter using an AI-powered research tool made by SparkBeyond.

Quickly, he spotted some good news. Regenerative farming dramatically reduces the cost of inputs for farmers, reducing the amount of money they need to plant and sustain crops—and thus decreasing the need for financing and indebtedness. Details are available in this report from the government of the Indian state of Andhra Pradesh. Ian unearthed an extensive analysis of the potential for funding sustainable agriculture enterprises and projects in this article published by the National Institutes of Health.

Regenerative agriculture has the potential to transform lives and diets. The Cellular Economy has the potential to transform society. My challenge to impact investors is this: Find ways to fund them. Help make the global food system and the global economy more sustainable.

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Molecular Signatures Are Redefining Cancer Treatment

New studies demonstrate that treating cancer based on its molecular vulnerabilities, rather than where it originated, could translate to better outcomes for patients

The way oncologists treat cancer is undergoing a tectonic shift. For decades, doctors have focused on where cancer originated: breast cancer, lung cancer, pancreatic cancer. So distinct have these cancers seemed that oncologists often specialize in just one type.

But thanks to rapid scientific advances, particularly in genomics, the way we define and approach cancer is changing significantly. Countless studies have shown that each cancer’s molecular profile provides more clinically actionable intel than its site of origin.

As normal human cells slowly acquire mutations that turn them into cancer cells, they pull from the same bag of biological tricks to evade detection by the immune system, grow quickly, and slurp up different sources of energy to outcompete other cells. Sometimes the trick involves turning off a gene that’s designed to prevent the occurrence of cancer; sometimes it’s turning on genes that boost its cancerous traits. Because those tricks aren’t specific to a site of origin, it could be that one patient’s colon cancer and another patient’s breast cancer are actually more biologically similar than two patients’ breast cancers.

New tests allow pathologists and oncologists to generate a molecular profile for each cancer. This is a genomic hit list, aimed at revealing the biological mechanisms fueling the cancer — and, with luck, identifying associated molecular vulnerabilities that can be exploited to kill the cancer.

That hit list wouldn’t be terribly useful without treatments tailored to those vulnerabilities. So-called targeted therapies, which typically work only for cancers driven by a certain genetic signature, have answered that need. They emerged in the late 1990s and early 2000s, but more recently development of these therapies has exploded, matching the pace of scientific discoveries of new molecular targets in a broader range of cancers. Today, the FDA has approved several targeted therapies based on molecular profile rather than the cancer’s original location. These therapies are typically approved together with a companion diagnostic test to determine which patients’ cancers have the matching profile.

At the recent annual meeting of the American Society of Clinical Oncology — one of the biggest cancer research gatherings of the year — newly reported results showed that the ability to target therapies for better patient outcomes continues to gain traction.

In one study, researchers identified a new subset of breast cancers, defined as tumors with low levels of the HER2 protein. This new class represents a significant fraction of new breast cancer cases each year. The study wasn’t terribly large — with 557 patients on three continents — but patients with cancer matching this new classification had significantly improved outcomes after receiving a treatment that targets the HER2 protein.

For cancer patients, it’s just as important to identify the right therapy as it is to rule out unnecessary ones. A separate study focused on 500 patients aged 55 and older who had a particular type of low-grade breast cancer. Researchers found that patients whose tumors had low levels of a certain protein biomarker, known as Ki67, could safely avoid radiation therapy without any change in their health outcomes after five years.

Finally, one study generated truly stunning results — but it was an extremely small trial of just 12 patients, so larger follow-up studies will be important to see if these results were a fluke. All patients had stage 2 or stage 3 rectal cancer with a very specific molecular profile. The researchers’ plan was simple: treat these patients for six months with a targeted therapy, and then have them undergo chemotherapy, radiation, and surgery. But after six months of treatment, no cancer could be found in any of the 12 patients. Six months later, the patients remained cancer-free, with no need for any additional therapy.

With these and many other advances, it’s clear that molecular characterization of cancer should now be considered essential for optimal patient care. Scientists and physicians continue to hone these classifications of cancer, but patients around the world are already seeing the benefit of this new approach.

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