SCOOP: Largest Cryobank in the U.S. to Offer Ancestry Testing
Sharon Kochlany and Vanessa Colimorio's four-year-old twin girls had a classic school assignment recently: make a family tree. They drew themselves and their one-year-old brother branching off from their moms, with aunts, uncles, and grandparents forking off to the sides.
The recently-gained sovereignty of queer families stands to be lost if a consumer DNA test brings a stranger's identity out of the woodwork.
What you don't see in the invisible space between Kochlany and Colimorio, however, is the sperm donor they used to conceive all three children.
To look at a family tree like this is to see in its purest form that kinship can supersede biology—the boundaries of where this family starts and stops are clear to everyone in it, in spite of a third party's genetic involvement. This kind of self-definition has always been synonymous with LGBTQ families, especially those that rely on donor gametes (sperm or eggs) to exist.
But the world around them has changed quite suddenly: The recent consumer DNA testing boom has made it more complicated than ever for families built through reproductive technology—openly, not secretively—to maintain the strong sense of autonomy and privacy that can be crucial for their emotional security. Prospective parents and cryobanks are now mulling how best to bring a new generation of donor-conceived people into this world in a way that leaves open the choice to know more about their ancestry without obliterating an equally important choice: the right not to know about biological relatives.
For queer parents who have long fought for social acceptance, having a biological relationship to their children has been revolutionary, and using an unknown donor as a means to this end especially so. Getting help from a friend often comes with the expectation that the friend will also have social involvement in the family, which some people are comfortable with, but being able to access sperm from an unknown donor—which queer parents have only been able to openly do since the early 1980s—grants them the reproductive autonomy to create families seemingly on their own. That recently-gained sovereignty stands to be lost if a consumer DNA test brings a stranger's identity out of the woodwork.
At the same time, it's natural for donor-conceived people to want to know more about where they come from ethnically, even if they don't want to know the identity of their donor. As a donor-conceived person myself, I know my donor's self-reported ethnicity, but have often wondered how accurate it is.
Opening the Pandora's box of a consumer DNA test as a way to find out has always felt profoundly unappealing to me, however. Many people have accidentally learned they're donor-conceived by unwittingly using these tools, but I already know that about myself going in, and subsequently know I'll be connected to a large web of people whose existence I'm not interested in learning about. In addition to possibly identifying my anonymous donor, his family could also show up, along with any donor-siblings—other people with whom I share a donor. My single lesbian mom is enough for me, and the trade off to learn more about my ethnic ancestry has never seemed worth it.
In 1992, when I was born, no one was planning for how consumer DNA tests might upend or illuminate one's sense of self. But the donor community has always had to stay nimble with balancing privacy concerns and psychological well-being, so it should come as no surprise that figuring out how to do so in 2020 includes finding a way to offer ancestry insight while circumventing consumer DNA tests.
A New Paradigm
This is the rationale behind unprecedented industry news that LeapsMag can exclusively break: Within the next few weeks, California Cryobank, the largest cryobank in the country, will begin offering genetically-verified ancestry information on the free public part of every donor's anonymous profile in its database, something no other cryobanks yet offer (an exact launch date was not available at the time of publication). Currently, California Cryobank's donor profiles include a short self-reported list that might merely say, "Ancestry: German, Lebanese, Scottish."
The new information will be a report in pie chart form that details exactly what percentages of a donor's DNA come from up to 26 ethnicities—it's analogous to, but on a smaller scale than, the format offered by consumer DNA testing companies, and uses the same base technology that looks for single nucleotide polymorphisms in DNA that are associated with specific ethnicities. But crucially, because the donor takes the DNA test through California Cryobank, not a consumer-facing service, the information is not connected in a network to anyone else's DNA test. It's also taken before any offspring exist so there's no chance of revealing a donor-conceived person's identity this way.
Later, when a donor-conceived person is born, grows up, and wants information about their ethnicity from the donor side, all they need is their donor's anonymous ID number to look it up. The donor-conceived person never takes a genetic test, and therefore also can't accidentally find donor siblings this way. People who want to be connected to donor siblings can use a sibling registry where other people who want to be found share donor ID numbers and look for matches (this is something that's been available for decades, and remains so).
"With genetic testing, you have no control over who reaches out to you, and at what point in your life."
California Cryobank will require all new donors to consent to this extra level of genetic testing, setting a new standard for what information prospective parents and donor-conceived people can expect to have. In the immediate, this information will be most useful for prospective parents looking for donors with specific backgrounds, possibly ones similar to their own.
It's a solution that was actually hiding in plain sight. Two years ago, California Cryobank's partner Sema4, the company handling the genetic carrier testing that's used to screen for heritable diseases, started analyzing ethnic data in its samples. That extra information was being collected because it can help calculate a more accurate assessment of genetic risks that run in certain populations—like Ashkenazi Jews and Tay Sachs disease—than relying on oral family histories. Shortly after a plan to start collecting these extra data, Jamie Shamonki, chief medical officer of California Cryobank, realized the companies would be sitting on a goldmine for a different reason.
"I didn't want to use one of these genetic testing companies like Ancestry to accomplish this," says Shamonki. "The whole thing we're trying to accomplish is also privacy."
Consumer-facing DNA testing companies are not HIPAA compliant (whereas Sema4, which isn't direct-to-consumer, is HIPAA compliant), which means there are no legal privacy protections covering people who add their DNA to these databases. Although some companies, like 23andMe, allow users to opt-out of being connected with genetic relatives, the language can be confusing to navigate, requires a high level of knowledge and self-advocacy on the user's part, and, as an opt-out system, is not set up to protect the user from unwanted information by default; many unwittingly walk right into such information as a result.
Additionally, because consumer-facing DNA testing companies operate outside the legal purview that applies to other health care entities, like hospitals, even a person who does opt-out of being linked to genetic relatives is not protected in perpetuity from being re-identified in the future by a change in company policy. The safest option for people with privacy concerns is to stay out of these databases altogether.
For California Cryobank, the new information about donor heritage won't retroactively be added to older profiles in the system, so donor-conceived people who already exist won't benefit from the ancestry tool, but it'll be the new standard going forward. The company has about 500 available donors right now, many of which have been in their registry for a while; about 100 of those donors, all new, will have this ancestry data on their profiles.
Shamonki says it has taken about two years to get to the point of publicly including ancestry information on a donor's profile because it takes about nine months of medical and psychological screening for a donor to go from walking through the door to being added to their registry. The company wanted to wait to launch until it could offer this information for a significant number of donors. As more new donors come online under the new protocol, the number with ancestry information on their profiles will go up.
For Parents: An Unexpected Complication
While this change will no doubt be welcome progress for LGBTQ families contemplating parenthood, it'll never be possible to put this entire new order back in the box. What are such families who already have donor-conceived children losing in today's world of widespread consumer genetic testing?
Kochlany and Colimorio's twins aren't themselves much older than the moment at-home DNA testing really started to take off. They were born in 2015, and two years later the industry saw its most significant spike. By now, more than 26 million people's DNA is in databases like 23andMe and Ancestry; as a result, it's estimated that within a year, 90 percent of Americans of European descent will be identifiable through these consumer databases, by way of genetic third cousins, even if they didn't want to be found and never took the test themselves. This was the principle behind solving the Golden State Killer cold case.
The waning of privacy through consumer DNA testing fundamentally clashes with the priorities of the cyrobank industry, which has long sought to protect the privacy of donor-conceived people, even as open identification became standard. Since the 1980s, donors have been able to allow their identity to be released to any offspring who is at least 18 and wants the information. Lesbian moms pushed for this option early on so their children—who would obviously know they couldn't possibly be the biological product of both parents—would never feel cut off from the chance to know more about themselves. But importantly, the openness is not a two-way street: the donors can't ever ask for the identities of their offspring. It's the latter that consumer DNA testing really puts at stake.
"23andMe basically created the possibility that there will be donors who will have contact with their donor-conceived children, and that's not something that I think the donor community is comfortable with," says I. Glenn Cohen, director of Harvard Law School's Center for Health Law Policy, Biotechnology & Bioethics. "That's about the donor's autonomy, not the rearing parents' autonomy, or the donor-conceived child's autonomy."
Kochlany and Colimorio have an open identification donor and fully support their children reaching out to California Cryobank to get more information about him if they want to when they're 18, but having a singular name revealed isn't the same thing as having contact, nor is it the same thing as revealing a web of dozens of extended genetic relations. Their concern now is that if their kids participate in genetic testing, a stranger—someone they're careful to refer to as only "the donor" and never "dad"—will reach out to the children to begin some kind of relationship. They know other people who are contemplating giving their children DNA tests, and feel staunchly that it wouldn't be right for their family.
"With genetic testing, you have no control over who reaches out to you, and at what point in your life," Kochlany says. "[People] reaching out and trying to say, 'Hey I know who your dad is' throws a curveball. It's like, 'Wait, I never thought I had a dad.' It might put insecurities in their minds."
"We want them to have the opportunity to choose whether or not they want to reach out," Colimorio adds.
Kochlany says that when their twins are old enough to start asking questions, she and Colimorio plan to frame it like this: "The donor was kind of like a technology that helped us make you a person, and make sure that you exist," she says, role playing a conversation with their kids. "But it's not necessarily that you're looking to this person [for] support or love, or because you're missing a piece."
It's a line in the sand that's present even for couples still far off from conceiving. When Mallory Schwartz, a film and TV producer in Los Angeles, and Lauren Pietra, a marriage and family therapy associate (and Shamonki's step-daughter), talk about getting married someday, it's a package deal with talking about how they'll approach having kids. They feel there are too many variables and choices to make around family planning as a same-sex couple these days to not have those conversations simultaneously. Consumer DNA databases are already on their minds.
"It frustrates me that the DNA databases are just totally unregulated," says Schwartz. "I hope they are by the time we do this. I think everyone deserves a right to privacy when making your family [using a sperm donor]."
"I wouldn't want to create a world where people who are donor-conceived feel like they can't participate in this technology because they're trying to shut out [other] information."
On the prospect of having a donor relation pop up non-consensually for a future child, Pietra says, "I don't like it. It would be really disappointing if the child didn't want [contact], and unfortunately they're on the receiving end."
You can see how important preserving the right to keep this door closed is when you look at what's going on at The Sperm Bank of California. This pioneering cryobank was the first in the world to openly serve LGBTQ people and single women, and also the first to offer the open identification option when it opened in 1982, but not as many people are asking for their donor's identity as expected.
"We're finding a third of young people are coming forward for their donor's identity," says Alice Ruby, executive director. "We thought it would be a higher number." Viewed the other way, two-thirds of the donor-conceived people who could ethically get their donor's identity through The Sperm Bank of California are not asking the cryobank for it.
Ruby says that part of what historically made an open identification program appealing, rather than invasive or nerve-wracking, is how rigidly it's always been formatted around mutual consent, and protects against surprises for all parties. Those [donor-conceived people] who wanted more information were never barred from it, while those who wanted to remain in the dark could. No one group's wish eclipsed the other's. The potential breakdown of a system built around consent, expectations, and respect for privacy is why unregulated consumer DNA testing is most concerning to her as a path for connecting with genetic relatives.
For the last few decades in cryobanks around the world, the largest cohort of people seeking out donor sperm has been lesbian couples, followed by single women. For infertile heterosexual couples, the smallest client demographic, Ruby says donor sperm offers a solution to a medical problem, but in contrast, it historically "provided the ability for [lesbian] couples and single moms to have some reproductive autonomy." Yes, it was still a solution to a biological problem, but it was also a solution to a social one.
The Sperm Bank of California updated its registration forms to include language urging parents, donor-conceived people, and donors not to use consumer DNA tests, and to go through the cryobank if they, understandably, want to learn more about who they're connected to. But truthfully, there's not much else cryobanks can do to protect clients on any side of the donor transaction from surprise contact right now—especially not from relatives of the donor who may not even know someone in their family has donated sperm.
A Tricky Position
Personally, I've known I was donor-conceived from day one. It has never been a source of confusion, angst, or curiosity, and in fact has never loomed particularly large for me in any way. I see it merely as a type of reproductive technology—on par with in vitro fertilization—that enabled me to exist, and, now that I do exist, is irrelevant. Being confronted with my donor's identity or any donor siblings would make this fact of my conception bigger than I need it to be, as an adult with a full-blown identity derived from all of my other life experiences. But I still wonder about the minutiae of my ethnicity in much the same way as anyone else who wonders, and feel there's no safe way for me to find out without relinquishing some of my existential independence.
The author and her mom in spring of 1998.
"People obviously want to participate in 23andMe and Ancestry because they're interested in knowing more about themselves," says Shamonki. "I wouldn't want to create a world where people who are donor-conceived feel like they can't participate in this technology because they're trying to shut out [other] information."
After all, it was the allure of that exact conceit—knowing more about oneself—that seemed to magnetically draw in millions of people to these tools in the first place. It's an experience that clearly taps into a population-wide psychic need, even—perhaps especially—if one's origins are a mystery.
COVID Vaccines Put Anti-Science Activists to Shame
It turns out that, despite the destruction and heartbreak caused by the COVID pandemic, there is a silver lining: Scientists from academia, government, and industry worked together and, using the tools of biotechnology, created multiple vaccines that surely will put an end to the worst of the pandemic sometime in 2021. In short, they proved that science works, particularly that which comes from industry. Though politicians and the public love to hate Big Ag and Big Pharma, everybody comes begging for help when the going gets tough.
The change in public attitude is tangible. A headline in the Financial Times declared, "Covid vaccines offer Big Pharma a chance of rehabilitation." In its analysis, the FT says that the pharmaceutical industry is widely reviled because of the high prices it charges for its drugs, among other things, but the speed with which the industry developed COVID vaccines may allow for its reputation to be refurbished.
The Media's Role in Promoting Anti-Biotech Activism
Of course, the media is partly to blame for the pharmaceutical industry's dismal reputation in the first place because of journalists' penchant for oversimplifying complicated stories and pinning blame on an easy scapegoat. While the pharmaceutical industry is far from angelic and places a hefty price tag on its products in the U.S., often gone unmentioned is the fact that high drug prices are the result of multiple factors, including lack of competition (even among generic drugs), foreign price controls that allow citizens of other countries to "free load" off of American consumers, and a deliberately opaque drug supply chain (that involves not only profit-maximizing pharmaceutical manufacturers but "middlemen" like distributors). But why delve into such nuance when it's easier to point to villains like Martin Shkreli?
Big Ag has been subjected to identical mistreatment by the media, with outlets such as the New York Times among the biggest offenders. One article it published compared pesticides to "Nazi-made sarin gas," and another spread misinformation about a high-profile biotech scientist. The website Undark, whose stated mission is "true journalistic coverage of the sciences," once published an opinion piece written by a person who works for an anti-GMO organization and another criticizing Monsanto for its reasonable efforts to defend itself from disinformation. These aren't cherry-picked examples. Overall, the media clearly has taken sides: Science is great, unless it's science from industry.
If the scientific community can use the powerful techniques of biotechnology to cure a previously unknown infectious disease in less than a year, then why shouldn't it be able to cure genetic diseases in humans?
Now, the very same media – which has portrayed the pharmaceutical and biotech industries in the worst possible light, often for political or ideological reasons – is wondering why so many Americans are reluctant to get a COVID vaccine. Perhaps their reportage has something to do with it.
Tech Strikes Back
For years, the agricultural, pharmaceutical, and biotech industries fought back, but to no avail. GMOs are feared, pharma is hated, and biotech is misunderstood. Regulatory red tape abounds. But that may be all about to change, not because of a clever PR campaign, but thanks to the successful coronavirus vaccines produced by the pharma/biotech industry.
All of the major vaccines were created using biotechnology, broadly defined as the use of living systems and organisms to develop products intended to improve human life or the planet. The Pfizer/BioNTech and Moderna vaccines rely on mRNA (messenger RNA), which is essentially a molecular "photocopy" of the more familiar genetic material DNA. The mRNA molecules were tweaked using biotech and then shown to be 95% effective at preventing COVID in human volunteers. The AstraZeneca/Oxford vaccine is based on an older technology that genetically modifies a harmless virus to resemble an immunological target, in this case, SARS-CoV-2. Their vaccine is 62% to 90% effective.
Even better, the pharma/biotech industry showed that it can work hand-in-hand with the government, for instance the FDA, to produce vaccines in record-breaking time. Operation Warp Speed provided some financing to facilitate this process. History will look back at this endeavor and likely conclude that the unprecedented level of cooperation to develop a vaccine in less than 12 months was one of the greatest triumphs in public health history. (The bungled slow rollout is another story.)
Perhaps the most important lesson that society will learn is that the scientific method works.
The pharma/biotech industry has thus gained tremendous momentum. For the first time it seems, those who are opposed to scientific progress and biotechnology are on the defensive. If the scientific community can use the powerful techniques of biotechnology to cure a previously unknown infectious disease in less than a year, then why shouldn't it be able to cure genetic diseases in humans? Or create genetically modified crops that are resistant to insects and drought? Or use genetically modified mosquitoes to help fight against killer diseases like malaria? The arguments against biotechnology have been made exponentially weaker by the success of the coronavirus vaccine.
Perhaps the most important lesson that society will learn is that the scientific method works. We observed (by collecting samples of an unknown virus and sequencing its genome), hypothesized (by predicting which parts of the virus would trigger an immune response), experimented (by recruiting tens of thousands of volunteers into clinical trials), and concluded (that the vaccines worked). It was a thing of pure beauty.
Thanks to all the players involved – from Big Government to Big Pharma – we are beginning the process of being rescued from a modern-day plague. Let us hope that this scientific success also deals a fatal blow to the forces of ignorance that have held back technological progress for decades.
[Editor's Note: LeapsMag is an editorially independent publication that receives program support from Leaps by Bayer. LeapsMag's founding in 2017 predates Bayer's acquisition of Monsanto in 2018. All content published on LeapsMag is strictly free of influence, censorship, and oversight from its corporate sponsor. Read more about LeapsMag's organizational independence here.]
Eight Big Medical and Science Trends to Watch in 2021
The world as we know it has forever changed. With a greater focus on science and technology than before, experts in the biotech and life sciences spaces are grappling with what comes next as SARS-CoV-2, the coronavirus that causes the COVID-19 illness, has spread and mutated across the world.
Even with vaccines being distributed, so much still remains unknown.
Jared Auclair, Technical Supervisor for the Northeastern University's Life Science Testing Center in Burlington, Massachusetts, guides a COVID testing lab that cranks out thousands of coronavirus test results per day. His lab is also focused on monitoring the quality of new cell and gene therapy products coming to the market.
Here are trends Auclair and other experts are watching in 2021.
Better Diagnostic Testing for COVID
Expect improvements in COVID diagnostic testing and the ability to test at home.
There are currently three types of coronavirus tests. The molecular test—also known as the RT-PCR test, detects the virus's genetic material, and is highly accurate, but it can take days to receive results. There are also antibody tests, done through a blood draw, designed to test whether you've had COVID in the past. Finally, there's the quick antigen test that isn't as accurate as the PCR test, but can identify if people are going to infect others.
Last month, Lucira Health secured the U.S. FDA Emergency Use Authorization for the first prescription molecular diagnostic test for COVID-19 that can be performed at home. On December 15th, the Ellume Covid-19 Home Test received authorization as the first over-the-counter COVID-19 diagnostic antigen test that can be done at home without a prescription. The test uses a nasal swab that is connected to a smartphone app and returns results in 15-20 minutes. Similarly, the BinaxNOW COVID-19 Ag Card Home Test received authorization on Dec. 16 for its 15-minute antigen test that can be used within the first seven days of onset of COIVD-19 symptoms.
Home testing has the possibility to impact the pandemic pretty drastically, Auclair says, but there are other considerations: the type and timing of test that is administered, how expensive is the test (and if it is financially feasible for the general public) and the ability of a home test taker to accurately administer the test.
"The vaccine roll-out will not eliminate the need for testing until late 2021 or early 2022."
Ideally, everyone would frequently get tested, but that would mean the cost of a single home test—which is expected to be around $30 or more—would need to be much cheaper, more in the $5 range.
Auclair expects "innovations in the diagnostic space to explode" with the need for more accurate, inexpensive, quicker COVID tests. Auclair foresees innovations to be at first focused on COVID point-of-care testing, but he expects improvements within diagnostic testing for other types of viruses and diseases too.
"We still need more testing to get the pandemic under control, likely over the next 12 months," Auclair says. "The vaccine roll-out will not eliminate the need for testing until late 2021 or early 2022."
Rise of mRNA-based Vaccines and Therapies
A year ago, vaccines weren't being talked about like they are today.
"But clearly vaccines are the talk of the town," Auclair says. "The reason we got a vaccine so fast was there was so much money thrown at it."
A vaccine can take more than 10 years to fully develop, according to the World Economic Forum. Prior to the new COVID vaccines, which were remarkably developed and tested in under a year, the fastest vaccine ever made was for mumps -- and it took four years.
"Normally you have to produce a protein. This is typically done in eggs. It takes forever," says Catherine Dulac, a neuroscientist and developmental biologist at Harvard University who won the 2021 Breakthrough Prize in Life Sciences. "But an mRNA vaccine just enabled [us] to skip all sorts of steps [compared with burdensome conventional manufacturing] and go directly to a product that can be injected into people."
Non-traditional medicines based on genetic research are in their infancy. With mRNA-based vaccines hitting the market for the first time, look for more vaccines to be developed for whatever viruses we don't currently have vaccines for, like dengue virus and Ebola, Auclair says.
"There's a whole bunch of things that could be explored now that haven't been thought about in the past," Auclair says. "It could really be a game changer."
Vaccine Innovation over the last 140 years.
Max Roser/Our World in Data (Creative Commons license)
Advancements in Cell and Gene Therapies
CRISPR, a type of gene editing, is going to be huge in 2021, especially after the Nobel Prize in Chemistry was awarded to Emmanuelle Charpentier and Jennifer Doudna in October for pioneering the technology.
Right now, CRISPR isn't completely precise and can cause deletions or rearrangements of DNA.
"It's definitely not there yet, but over the next year it's going to get a lot closer and you're going to have a lot of momentum in this space," Auclair says. "CRISPR is one of the technologies I'm most excited about and 2021 is the year for it."
Gene therapies are typically used on rare genetic diseases. They work by replacing the faulty dysfunctional genes with corrected DNA codes.
"Cell and gene therapies are really where the field is going," Auclair says. "There is so much opportunity....For the first time in our life, in our existence as a species, we may actually be able to cure disease by using [techniques] like gene editing, where you cut in and out of pieces of DNA that caused a disease and put in healthy DNA," Auclair says.
For example, Spinal Muscular Atrophy is a rare genetic disorder that leads to muscle weakness, paralysis and death in children by age two. As of last year, afflicted children can take a gene therapy drug called Zolgensma that targets the missing or nonworking SMN1 gene with a new copy.
Another recent breakthrough uses gene editing for sickle cell disease. Victoria Gray, a mom from Mississippi who was exclusively followed by NPR, was the first person in the United States to be successfully treated for the genetic disorder with the help of CRISPR. She has continued to improve since her landmark treatment on July 2, 2019 and her once-debilitating pain has greatly eased.
"This is really a life-changer for me," she told NPR. "It's magnificent."
"You are going to see bigger leaps in gene therapies."
Look out also for improvements in cell therapies, but on a much lesser scale.
Cell therapies remove immune cells from a person or use cells from a donor. The cells are modified or cultured in lab, multiplied by the millions and then injected back into patients. These include stem cell therapies as well as CAR-T cell therapies, which are typically therapies of last resort and used in cancers like leukemia, Auclair says.
"You are going to see bigger leaps in gene therapies," Auclair says. "It's being heavily researched and we understand more about how to do gene therapies. Cell therapies will lie behind it a bit because they are so much more difficult to work with right now."
More Monoclonal Antibody Therapies
Look for more customized drugs to personalize medicine even more in the biotechnology space.
In 2019, the FDA anticipated receiving more than 200 Investigational New Drug (IND) applications in 2020. But with COVID, the number of INDs skyrocketed to 6,954 applications for the 2020 fiscal year, which ended September 30, 2020, according to the FDA's online tracker. Look for antibody therapies to play a bigger role.
Monoclonal antibodies are lab-grown proteins that mimic or enhance the immune system's response to fight off pathogens, like viruses, and they've been used to treat cancer. Now they are being used to treat patients with COVID-19.
President Donald Trump received a monoclonal antibody cocktail, called REGEN-COV2, which later received FDA emergency use authorization.
A newer type of monoclonal antibody therapy is Antibody-Drug Conjugates, also called ADCs. It's something we're going to be hearing a lot about in 2021, Auclair says.
"Antibody-Drug Conjugates is a monoclonal antibody with a chemical, we consider it a chemical warhead on it," Auclair says. "The monoclonal antibody binds to a specific antigen in your body or protein and delivers a chemical to that location and kills the infected cell."
Moving Beyond Male-Centric Lab Testing
Scientific testing for biology has, until recently, focused on testing males. Dulac, a Howard Hughes Medical Investigator and professor of molecular and cellular biology at Harvard University, challenged that idea to find brain circuitry behind sex-specific behaviors.
"For the longest time, until now, all the model systems in biology, are male," Dulac says. "The idea is if you do testing on males, you don't need to do testing on females."
Clinical models are done in male animals, as well as fundamental research. Because biological research is always done on male models, Dulac says the outcomes and understanding in biology is geared towards understanding male biology.
"All the drugs currently on the market and diagnoses of diseases are biased towards the understanding of male biology," Dulac says. "The diagnostics of diseases is way weaker in women than men."
That means the treatment isn't necessarily as good for women as men, she says, including what is known and understood about pain medication.
"So pain medication doesn't work well in women," Dulac says. "It works way better in men. It's true for almost all diseases that I know. Why? because you have a science that is dominated by males."
Although some in the scientific community challenge that females are not interesting or too complicated with their hormonal variations, Dulac says that's simply not true.
"There's absolutely no reason to decide 50% of life forms are interesting and the other 50% are not interesting. What about looking at both?" says Dulac, who was awarded the $3 million Breakthrough Prize in Life Sciences in September for connecting specific neural mechanisms to male and female parenting behaviors.
Disease Research on Single Cells
To better understand how diseases manifest in the body's cell and tissues, many researchers are looking at single-cell biology. Cells are the most fundamental building blocks of life. Much still needs to be learned.
"A remarkable development this year is the massive use of analysis of gene expression and chromosomal regulation at the single-cell level," Dulac says.
Much is focused on the Human Cell Atlas (HCA), a global initiative to map all cells in healthy humans and to better identify which genes associated with diseases are active in a person's body. Most estimates put the number of cells around 30 trillion.
Dulac points to work being conducted by the Cell Census Network (BICCN) Brain Initiative, an initiative by the National Institutes of Health to come up with an atlas of cell types in mouse, human and non-human primate brains, and the Chan Zuckerberg Initiative's funding of single-cell biology projects, including those focused on single-cell analysis of inflammation.
"Our body and our brain are made of a large number of cell types," Dulac says. "The ability to explore and identify differences in gene expression and regulation in massively multiplex ways by analyzing millions of cells is extraordinarily important."
Converting Plastics into Food
Yep, you heard it right, plastics may eventually be turned into food. The Defense Advanced Research Projects Agency, better known as DARPA, is funding a project—formally titled "Production of Macronutrients from Thermally Oxo-Degraded Wastes"—and asking researchers how to do this.
"When I first heard about this challenge, I thought it was absolutely absurd," says Dr. Robert Brown, director of the Bioeconomy Institute at Iowa State University and the project's principal investigator, who is working with other research partners at the University of Delaware, Sandia National Laboratories, and the American Institute of Chemical Engineering (AIChE)/RAPID Institute.
But then Brown realized plastics will slowly start oxidizing—taking in oxygen—and microorganisms can then consume it. The oxidation process at room temperature is extremely slow, however, which makes plastics essentially not biodegradable, Brown says.
That changes when heat is applied at brick pizza oven-like temperatures around 900-degrees Fahrenheit. The high temperatures get compounds to oxidize rapidly. Plastics are synthetic polymers made from petroleum—large molecules formed by linking many molecules together in a chain. Heated, these polymers will melt and crack into smaller molecules, causing them to vaporize in a process called devolatilization. Air is then used to cause oxidation in plastics and produce oxygenated compounds—fatty acids and alcohols—that microorganisms will eat and grow into single-cell proteins that can be used as an ingredient or substitute in protein-rich foods.
"The caveat is the microorganisms must be food-safe, something that we can consume," Brown says. "Like supplemental or nutritional yeast, like we use to brew beer and to make bread or is used in Australia to make Vegemite."
What do the microorganisms look like? For any home beer brewers, it's the "gunky looking stuff you'd find at the bottom after the fermentation process," Brown says. "That's cellular biomass. Like corn grown in the field, yeast or other microorganisms like bacteria can be harvested as macro-nutrients."
Brown says DARPA's ReSource program has challenged all the project researchers to find ways for microorganisms to consume any plastics found in the waste stream coming out of a military expeditionary force, including all the packaging of food and supplies. Then the researchers aim to remake the plastic waste into products soldiers can use, including food. The project is in the first of three phases.
"We are talking about polyethylene, polypropylene, like PET plastics used in water bottles and converting that into macronutrients that are food," says Brown.
Renewed Focus on Climate Change
The Union of Concerned Scientists say carbon dioxide levels are higher today than any point in at least 800,000 years.
"Climate science is so important for all of humankind. It is critical because the quality of life of humans on the planet depends on it."
Look for technology to help locate large-scale emitters of carbon dioxide, including sensors on satellites and artificial intelligence to optimize energy usage, especially in data centers.
Other technologies focus on alleviating the root cause of climate change: emissions of heat-trapping gasses that mainly come from burning fossil fuels.
Direct air carbon capture, an emerging effort to capture carbon dioxide directly from ambient air, could play a role.
The technology is in the early stages of development and still highly uncertain, says Peter Frumhoff, director of science and policy at Union of Concerned Scientists. "There are a lot of questions about how to do that at sufficiently low costs...and how to scale it up so you can get carbon dioxide stored in the right way," he says, and it can be very energy intensive.
One of the oldest solutions is planting new forests, or restoring old ones, which can help convert carbon dioxide into oxygen through photosynthesis. Hence the Trillion Trees Initiative launched by the World Economic Forum. Trees are only part of the solution, because planting trees isn't enough on its own, Frumhoff says. That's especially true, since 2020 was the year that human-made, artificial stuff now outweighs all life on earth.
More research is also going into artificial photosynthesis for solar fuels. The U.S. Department of Energy awarded $100 million in 2020 to two entities that are conducting research. Look also for improvements in battery storage capacity to help electric vehicles, as well as back-up power sources for solar and wind power, Frumhoff says.
Another method to combat climate change is solar geoengineering, also called solar radiation management, which reflects sunlight back to space. The idea stems from a volcanic eruption in 1991 that released a tremendous amount of sulfate aerosol particles into the stratosphere, reflecting the sunlight away from Earth. The planet cooled by a half degree for nearly a year, Frumhoff says. However, he acknowledges, "there's a lot of things we don't know about the potential impacts and risks" involved in this controversial approach.
Whatever the approach, scientific solutions to climate change are attracting renewed attention. Under President Trump, the White House Office of Science and Technology Policy didn't have an acting director for almost two years. Expect that to change when President-elect Joe Biden takes office.
"Climate science is so important for all of humankind," Dulac says. "It is critical because the quality of life of humans on the planet depends on it."