<br/>Many people wonder if Alzheimer’s diseas...
Genomic analysis and related molecular analysis technologies undergo rapid advancements, in principle enabling the identification of any genetic alteration potentially implicated in the pathogenesis of diseases and conditions - for germline analyses ...
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A research team has elucidated the role of polyploidy in the evolution and breeding of vegetable crops, leveraging advanced sequencing technologies to dissect the genetic and epigenetic nuances of polyploids. Their findings underline the critical contribution of polyploidy to plant diversity and adaptability, shedding light on "Darwin's abominable mystery" of angiosperm expansion.
Highlighting polyploidy 's potential to enhance crop yields and qualities, the review advocates for its application in vegetable breeding for economic and dietary benefits. Despite the strides in sequencing and multi-omics analysis, challenges persist, including understanding polyploidization's comprehensive impact and leveraging technology for non-model crops.
The study calls for increased research into minor vegetable crops, emphasizing the importance of polyploidy in meeting global food security challenges and promoting a healthy diet amid rising health concerns over high-calorie foods.
Vegetables, crucial for human health and increasingly important economically, are often polyploids, which contribute to their larger organ size and enhanced environmental adaptability. This trait, prevalent in key crops like wheat and cotton, offers significant advantages for breeding, including unique flavors and wider adaptation.
Utilization of advanced sequencing technologies have vastly improved our understanding of vegetable genomics, particularly polyploids, enabling detailed investigations into their evolutionary history and genetic diversity .
Despite these advancements, challenges persist in accurately assembling the complex genomes of polyploids due to their sequence similarity, hindering deeper molecular insights. The current research landscape is poised to further explore the phenotypic advantages and molecular mechanisms of polyploids to untangle the complexities of their genomes, thereby promoting vegetable germplasm innovation and breeding utilization.
A study published in Vegetable Research offers a comprehensive overview of research on vegetable polyploids facilitated by high-throughput sequencing that enhances our grasp of plant evolution and aids in the effective breeding of vegetables through polyploidy.
Genomic sequencing has revolutionized the understanding of vegetable evolution by uncovering ancient whole genome duplication (WGD) events, pivotal for crop domestication and breeding.
Through high-quality genome assemblies, researchers have mapped conserved homologous regions and identified orthologous genes across Cucumis species, revealing the ancient Cucurbit-Common Tetraploidization (CCT) event, which is critical for the divergence of Cucurbitaceae plants.
Despite this, many Cucurbitaceae crops retain genetic information from their diploid progenitors, displaying genetic stability unusual in polyploid evolution. The study of Chinese cabbage and Allium sativum has further highlighted how WGD events contribute to genome expansion and diversification.
Polyploids have complex genomes which make their assembly challenging due to the limitations of sequencing. Recent advances in long-read sequencing have improved the ability to analyze polyploid genomes, revealing structural variants and facilitating the assembly of complex genomes like tetraploid potatoes.
Allopolyploidy arises from the merging of distinct genomes and results in notable changes in gene structure and expression. These changes are gradually stabilized through diploidization, which facilitates species' adaptation to new environments.
This review underscores the potential of polyploidy in enhancing crop diversity and adaptability, essential for addressing global food security. Comparative genomic analyses have shown different fates of polyploid subgenomes, with some becoming dominant, affecting gene expression and agricultural value.
Integrative multi-omics analyses are now enabling efficient crop breeding, offering insights into the complex phenotypes of polyploid vegetables and paving the way for germplasm enhancement through polyploidy.
According to the study's senior researcher, Prof. Xiaqing Yu, "This review summarizes the research progress in vegetable polyploids driven by sequencing technology and the subsequent studies underpinning important traits and genes, which will further promote germplasm innovation and breeding utilization via polyploidy in vegetables."
This work underscores the need for further research, particularly in non-model vegetable crops, to leverage polyploidy for agricultural innovation and to meet the demands of global food security and dietary health.
This calls for more affordable advanced technologies and a greater focus on diversifying vegetable germplasm for a healthier diet, pointing towards a promising direction for polyploidy-based crop breeding aided by artificial intelligence.
Provided by Chinese Academy of Sciences
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By analyzing electronic health records, researchers at the University of California San Diego School of Medicine have identified hundreds of new genes associated with tobacco use disorder. They also identified hundreds of potential drug candidates that could help treat the disease. The study was published in Nature Human Behavior .
"Tobacco use disorder has an enormous impact on public health," said Sandra Sanchez-Roige, Ph.D., an associate professor in the Department of Psychiatry at UC San Diego School of Medicine. "However, it's challenging to develop new therapeutics for tobacco use disorder because so much of its underlying genetics is poorly understood."
According to the World Health Organization, there are about 1.3 billion tobacco users worldwide, and 80% of these people live in low and middle-income countries. The public health effects of tobacco use extend far beyond those who use it themselves; tobacco kills more than 8 million people each year, and an estimated 1.3 million of these deaths are nonsmokers who were exposed to secondhand smoke .
The official criteria for tobacco use encompass a wide variety of behaviors associated with tobacco use, such as using more tobacco than intended or continuing to use it despite negative consequences. There are known genes associated with nicotine consumption on its own, but these don't tell researchers how nicotine use progresses to tobacco use disorder.
"A fraction of people are able to smoke occasionally without developing an addiction," said Sanchez-Roige. "We want to understand, from a genetic perspective, why occasional tobacco use becomes chronic misuse in some people."
The researchers leveraged large volumes of electronic health data from several health systems in the United States, which was enabled by the PsycheMERGE Network, an international consortium of researchers that aims to synthesize medical records and genomics data to understand better and treat neuropsychiatric illnesses. Sanchez-Roige leads the substance use disorder workgroup within PsycheMERGE.
For the current study, her team used an approach called genome-wide association, which allows researchers to scan the entire genome and look for variations in our genes associated with certain traits, behaviors, or diseases. This is one approach scientists have used to find genes associated with smoking, but this is the first time this approach has been able to reveal genes associated with tobacco use disorder.
In their study of 898,680 individuals, they found 461 candidate risk genes for tobacco use disorder, mostly expressed in the brain. These genes are associated with a myriad of other psychiatric and medical conditions , such as HIV infection, heart disease, and chronic pain. Further, the researchers were able to validate known findings about genes associated with smoking behaviors, which helped validate their approach.
In addition to giving us a more comprehensive view of tobacco use disorder, the researchers were able to use their results to identify hundreds of potential drug candidates that could help doctors treat the disease. However, it will take more research to evaluate these drugs in the lab and the clinic.
In the meantime, the study also supports a growing idea in the field of genetics research: Electronic health records are an underutilized treasure trove of information.
"There's a world of information hidden in medical records, and we accumulate more of them every day as part of routine clinical care," said Sanchez-Roige. "They're also a relatively untapped resource due to how difficult it is to organize and analyze electronic health record data. This study is part of a growing movement to use this constantly expanding source of information to solve complex medical problems."
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Alexis walker.
a Berman Institute of Bioethics, Johns Hopkins University, 1809 Ashland Avenue, Baltimore MD 21205 USA
b Social and Behavioral Research Branch, National Human Genome Research Institute, 31 Center Drive, Bethesda MD 20894 USA
Ellen wright clayton.
c Center for Biomedical Ethics and Society, Vanderbilt University Medical Center, 1211 Medical Center Drive, Nashville TN 37232 USA
d International Society for Biological and Environmental Repositories, 750 W Pender St #301, Vancouver BC V6C 1G8 Canada
e Wellcome Centre for Ethics and the Humanities and Ethox Centre, University of Oxford, Oxford OX1 2JD UK
f Johns Hopkins University School of Medicine, 733 N Broadway, Baltimore MD 21205 USA
g National Institute of Allergy and Infectious Diseases, National Institutes of Health, 5601 Fishers Ln, Bethesda, MD 20892 USA
Joseph b. margolick.
h Johns Hopkins University Bloomberg School of Public Health, 615 N Wolfe St, Baltimore MD 21205 USA
Michael j. parker, paul spicer.
I Department of Anthropology and the Center for Applied Social Research, University of Oklahoma, 455 W Lindsey St, Norman OK 73069 USA
Gail geller, jeffrey kahn.
Author Contributions
Research in genetics and infectious diseases (ID) presents novel configurations of ethical, legal, and social issues (ELSIs) related to the intersection of genetics with public health regulations and the control of transmissible diseases. Such research includes work both in pathogen genetics and on the ways that human genetics affect responses to ID. This paper identifies and systematizes the unique issues at this intersection, based on an interdisciplinary expert review.
This paper presents results of a formal issue-spotting exercise among twenty experts in public health, law and genomics, biobanking, genetic epidemiology, ID medicine and public health, philosophy, ethics and ID, ethics and genomics, and law and ID. The focus of the exercise was on the collection, storage, and sharing of genetic information relating to ID.
The issue-spotting exercise highlighted the following ELSIs: risks in reporting to government authorities, return of individual research results, and resource allocation – each taking on specific configurations based on the balance between public health and individual privacy/protection.
The public health implications of interactions between genomics and ID frame considerations for equity and justice. In the context of the COVID-19 pandemic, these issues are especially pressing.
Much has been learned in recent years about how pathogen and human genetics affect the incidence and outcomes of infectious diseases [ 1 ]. And while the COVID-19 pandemic underlines the importance of this knowledge, it also highlights pressing ethical, legal, and social issues (ELSIs) in genomics and infectious disease. These include data privacy, allocation of medical resources, and over-emphasis on genetic drivers of inequity as opposed to social factors – all longstanding issues that take on novel permutations at the intersection of genomics and infectious diseases research. While this area of research and practice is subject to the extensive ELSIs that have been described in genomics and non-communicable disease [ 2 – 4 ], new formulations occur as disparate types of information from the fields of genetics and of infectious disease are brought together at unprecedented extents and levels of detail, which potentially multiplies risks [ 5 – 7 ].
This paper presents results of an issue-spotting exercise conducted by experts in the ethics, law, and science of genetics and infectious diseases (ID). The exercise focused on the collection, storage and sharing of genetic data relating to ID, highlighting ELSIs that differ in important ways from issues in genetics and non-transmissible disease. While this exercise was conducted prior to the emergence of COVID-19, the issues raised have become all the more urgent in the context of the current pandemic.
The primary method of this study is a systematic issue-spotting exercise with twenty expert participants, conducted according to validated methods in law and bioethics [ 8 ]. This exercise was organized as part of a [BLIND] grant funded at [BLIND] by the National Human Genome Research Institute (NHGRI). Issue-spotting is a commonly used method for identifying a range of ethical issues that might arise in the near to mid-term future, based on anticipated developments in law and science. In the current study, the issue-spotting exercise involved the exploration of possible ELSIs by a group of 20 experts from the following fields: public health, law and genomics, biobanking, genetic epidemiology, ID medicine and public health, philosophy, ethics and ID, ethics and genomics, and law and ID. Members of the group represented a diversity of expertise relevant to our focus and are based at universities and organizations across the United States and the United Kingdom.
The issue-spotting was conducted through a series of three meetings in Spring 2019: a two-day in-person conference held at [BLIND], and two half-day WebEx conferences. Before meetings, the group reviewed relevant literature on ethics in genomics and ID to inform development of a series of scenarios, which the group then used to help identify areas of ethical concern. This effort included imagining possible developments based on current research, and the ELSI issues such developments would present [ 9 ]. Analysis was collaborative among the participant group; all participants shared perspectives on possible and likely directions for genomics and ID and the ELSIs they present, discussing any disagreements within the group. After broad and extensive live discussion (more than ten hours, spread over two months), the group collaboratively determined the issues that had been most discussed, and agreed on a baseline set of consensus concerns, described below.
Authors of this paper are a subset of the full group involved in the issue-spotting. The issues identified are largely focused on ethical considerations, but some legal elements are also noted.
As genomics becomes increasingly important to ID research–for example, revealing individuals at lower or greater genetic risk of being infected with specific pathogens or more or less likely to heal quickly from infections [ 10 ] – ID research has had to grapple with ELSIs common to the broader field of genomics, such as genetically-based group harm or stigma [ 11 ], and ownership of genetic data or samples [ 12 ]. However, the close relationship of ID with public health interventions has led to a different configuration of the privacy and justice concerns that pertain to other areas of genetics research. The Working Group identified three primary areas of ELSI concern of this type: reporting results to authorities, return of individual research results, and allocation of resources for clinical care.
In order to track disease trends and outbreaks, public health authorities require that cases of ID of public health concern be reported to local, regional, and national agencies. The US Centers for Disease Control and Prevention, for example, require reporting of over sixty IDs by medical professionals and laboratories. The reportability of ID presents unique concerns when ID and genetics research come together. For example, if human genetic variations associated with increased risk of transmitting an infection were to be identified, public health authorities could potentially require that such genetic information be reported for cases of that infection. As seen for COVID-19, there has been substantial interest in early identification of “superspreaders” based on both behavioral and viral genetic factors [ 13 ]. Host genetic information could present a means of pre-emptive identification of individuals or groups at high risk of spreading a virus in an attempt to control that infection [ 14 ], with a host of attending concerns. Such information could be used to limit the ability of some individuals to work outside their homes. This would present pressing questions regarding thresholds (e.g., what level of evidence and increased risk could justify such decisions?) and justice (e.g., what financial support should be provided to people who are not able to work, and who should provide it?).
In addition to human genetic information, public health authorities might also be interested in pathogen genetic information. Paths of disease transmission identified by tracing evolutionary relationships among pathogen samples (phylogenetics) are used by public health authorities to track disease [ 15 ]. Public health agencies have long used contact tracing, based on the names of contacts provided by an affected person, to follow up with potentially infected individuals and control disease transmission. For HIV, pathogen sequence data are assessed for the formation of viral clusters, which if found among newly diagnosed individuals, can trigger augmented partner tracing [ 16 ]. The significance of pathogen genetics in tracing disease spread has led some public health agencies to collect not only information on disease cases but also the genetic sequence of the case’s pathogen and associated meta-data – as seen in public health surveillance of SARS-CoV-2 in some countries [ 13 ]. Although such meta-data is generally de-identified, in some cases information about an individual human host can be derived from the pathogen sequence itself.
Even though sharing genetic information relating to ID could reduce risk to public health, it also can raise concerns about privacy. Mandatory reporting of human and pathogen genetic information on ID would limit the control research participants have over data about themselves; this is different from traditional contact tracing, in which individuals ultimately retain power over the information they share. Participants in long-term HIV cohort studies have expressed confidence in the clinical researchers they interact with directly, but also substantial concern about use of their data by government entities [ 6 ], highlighting the potential importance of control over information shared.
When pathogen and human genetic information are combined, risks to privacy can increase. Information about pathogen spread is often a powerful indication of social interactions and behavior -- information that can potentially be used against people. For example, this information may place people in legal jeopardy when shared with government agencies, as it is illegal in some jurisdictions to expose others to an infectious agent, and genetic information can, in some contexts, enable confirmation of a person who has transmitted a pathogen [ 17 ].
While public health authorities in the United States and elsewhere have done an admirable job of protecting infectious disease information, the possibility that genetic and ID information could be accessed by other government agencies is a serious risk, especially for members of groups who have been, and continue to be, disproportionately targeted by police, who stand to lose public benefits, and/or who are undocumented. These issues arise for both pathogen and human genetic information relating to ID, especially when these kinds of information can be cross-referenced and thus can reveal more about individuals [ 19 ]. The protection of sensitive information by public health authorities has at times depended on the actions of individuals who stood up to demands for access by law enforcement [ 6 ]. This is a thin protection.
Today there is a widespread expectation that researchers will share with research participants aggregate data from the studies in which these participants take part; in addition, there has been growing pressure for expanded return of individual research results [ 20 ]. The latter has been based on a) the desire participants have expressed to receive this information, b) broadening understanding of rights to health information, and c) a desire to balance the increased privacy risks in genetics research with potential benefits. For example, some participants in a longitudinal HIV cohort wanted to know whether they carried a mutation in the CCR5 gene that could affect acquisition and progression of HIV infection. The researchers, after consulting with their IRB, made these results available to the participants as a service to them, even though this information would not affect their health care or their benefit from practicing safe sex.
IRBs and researchers have expressed concern that sharing individual research results about genetic variants that are protective against a specific ID could lead people to engage in riskier behavior. This could then contribute to increased transmission of that or other diseases [ 8 ]; similar concerns were raised in connection with use of pre-exposure prophylaxis (PrEP) for HIV infection. However, there is currently no evidence of such increased risk-taking based on results relating to the genetics of ID – either host or pathogen.
Participants in genetics ID research report great interest in their individual results, not only for their own knowledge, but to better protect those around them [ 6 ]. Researchers should weigh sincere respect for participant views against the effects of returning individual results, including possible effects on cost of the research enterprise and health care, which would be increased by expenses to adequately confirm tests, track individual participants, and return results [ 21 ]. These questions require more systematic discussion within research communities to ensure that researchers are making well-considered decisions in managing return of individual results.
Genetic information regarding people’s susceptibility to or transmission of specific IDs may also affect the allocation of scarce resources. In the case of hepatitis C, a few researchers have suggested that patients with higher genetic likelihood of response to interferon-based therapies (which are generally poorly tolerated) or a higher likelihood of spontaneous viral clearance could be deprioritized from treatment with highly effective, but very costly, medications that can cure hepatitis C [ 6 ].
In the future some stakeholders might become more interested in such “precision rationing” approaches for a variety of conditions and resources [ 6 ]. For example, patients’ genetic predisposition to influenza (or COVID-19) progression and spread could be used to allocate isolation beds [ 19 ]. But how might such approaches contribute to health inequities? This calculus is made more complex by the question of whom the intervention is protecting – the patient and/or others? Concerns for efficient resource allocation should not inhibit prioritization of justice and the importance of countering current health inequities; funding must be made available to support health justice for all.
Here again, human genetics of ID presents public health issues that are not commonly considered in human genetics of non-communicable disease, which has been the focus of past ELSI research. Further anticipatory ELSI research is necessary to investigate where, and how, genetics-based rationing might be applied in both the short and longer term, to ensure that resource allocation achieves distributive justice.
Burgeoning research on genetics of human ID and of human pathogens presents novel configurations of ethical, legal, and social issues in genetics. Specifically, public health concerns lead to the possibility that genetic information related to ID could be used in attempts to control transmission, involving relationships of authority not engaged in the management of non-communicable disease. The Covid-19 pandemic has highlighted vast inequalities in the management of infectious disease and in the social context that underlies human health. Researchers have the ability and responsibility to confront additional issues in the research process at the intersection of genomics and ID research – regarding, for example, reporting data to authorities, return of individual research results, and resource allocation. These areas require norms and policies to protect privacy and advance equity beyond current protections. This necessitates sustained research and public discussion to protect the most marginalized and to incorporate both expert and lay perspectives, especially those from people who have borne, and still bear, the negative effects of discrimination -- based on gender, race, ethnicity, immigration status, disability, age, sexual orientation, or income. Coupling such research and discussion with action is crucial for preventing adverse and undesired effects of research, including impaired privacy and legal safety of research participants, loss of trust in the research enterprise, harm and stigmatization of specific groups of people, and exacerbation of or failure to improve health inequities.
This paper is submitted on behalf of the Working Group on ELSI, Biobanks, Infectious Diseases, and Marginalized Groups, with important contributions by Seema Shah, Margaret Battin, Leslie Meltzer Henry, and Shruti Mehta – in addition to the named authors.
Funded as part of the NHGRI CEER II RM1HG009038 - Ethical, Legal & Social Implications of "Precision Medicine" in Infectious Disease, whose primary investigators are authors on this paper (Geller and Kahn). The funder has had no role in the analysis or in the preparation of this manuscript.
Conflict of Interest
The authors have no conflicts of interest to declare.
Statement of Ethics
This paper is based on methods for ethics analysis and does not constitute research with human subjects.
Publisher's Disclaimer: This is a PDF file of an unedited manuscript that has been accepted for publication. As a service to our customers we are providing this early version of the manuscript. The manuscript will undergo copyediting, typesetting, and review of the resulting proof before it is published in its final form. Please note that during the production process errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain.
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Genomics is the study of the full genetic complement of an organism (the genome). It employs recombinant DNA, DNA sequencing methods, and bioinformatics to sequence, assemble, and analyse the structure and function of genomes.
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Applying a ‘base editor’ allows cells to crank out increased levels of a vital metabolic enzyme.
New research from the san diego zoo using just 12 frozen cells suggests we can protect the northern white rhino, by matthew rozsa.
As humans continue to encroach on our planet, we are driving a mass extinction that some experts call a " biological holocaust ." Since more and more species are dying, it creates an increasing number of genetic bottlenecks, which make animal and plant survival even more difficult.
Take for example the white rhinoceros ( Ceratotherium simum ), which can be divided into two sub-species that are genetically very similar — but one is relatively thriving while the other is on the brink of extinction.
Scientists using state-of-the-art genetics technology hope to change that — and their recent research published in the journal Evolutionary Applications suggests they might be able to pull it off.
"Doing our best to preserve [rhinos] is really our moral obligation."
Such a feat would not be unprecedented. The southern white rhinoceroses, which is currently the most abundant rhinoceros species in the world, had been culled down to a population of merely 50 to 200 individuals in the early 20th century. Thanks to rigorous conservation efforts, however, the southern white rhinoceros population had rebounded to roughly 20,000 individuals by 2014 (a surge in poaching around that time has since reduced their population to roughly 18,000).
The southern white rhinoceros' cousin, however, faces a much more dire situation. At the time of this writing, there are only two females from the northern white rhinoceros species that are still alive. Even if there was a male around, it would not matter, since both females are past the age when they can carry a fetus to term. Poaching, poorly managed land use and other human activities have taken a massive toll.
While a few decades ago this would have entirely doomed the species, cutting edge advances in genetics technology may offer them salvation. Dr. Aryn P. Wilder — a conservation scientist at the San Diego Zoo Wildlife Alliance — decided to study genetic samples from 12 northern white rhinoceroses that had cytogenetically frozen at the San Diego Zoo. Much to her delight, Wilder found that those dozen samples contain enough genetic diversity that one could resurrect them from functional extinction.
Indeed, not only is there enough diversity to allow rhinoceroses to be reproduced through cloning, but the samples from northern white rhinoceroses are actually more diverse than those of the southern white rhinoceroses. This means that if scientists are able to bring them back, they will be less likely to encounter a genetic bottleneck, in which individual animals are born unhealthy because their parents are too closely related to each other.
Salon spoke with Wilder about this uplifting news, as well as the practical steps that need to be taken next to save northern white rhinoceroses.
This interview has been lightly edited for length and clarity.
Can you explain how your technology was able to determine that there is enough genetic diversity within these 12 samples to avoid a genetic bottleneck?
We sequenced the genomes of individuals from both species, northern white rhinos and southern white rhinos. When you sequence the genome, you can actually measure the amount of genetic diversity in each of those genomes. And we know that the southern white rhino was able to recover without too much inbreeding. So we used southern white rhinos as a benchmark or metric of a healthy enough population. And so then we asked, "Well, do the cells that we have banked in the frozen zoo, do they have enough genetic diversity to recover in a similar way?"
What we found was that, yes, the northern white rhinos actually have more genetic diversity in their genomes than the southern white rhinos, so we know then that they at least have adequate levels of genetic diversity. The other thing that we wanted to look at was harmful mutations in the genome. So we can actually look at genetic variants in the genome or mutations in the genome, and predict how harmful they might be. If those mutations are in a gene that encodes a protein, we can predict what the protein will look like, and we know that if a mutation causes a change in that protein, it's more likely to be harmful.
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We can also look across lots of mammals in other mammal species. If we find that that mutation is very rare or doesn't exist in any other mammal species, and every other mammal species has the same genetic variant, then we would infer that that mutation is actually really important, or that that position is really important in any change to that position and is likely harmful.
Then we counted up all of the mutations in the northern white rhino genome that were harmful and did the same in the southern white rhino, and then modeled over time what those mutations would do in a restored population and whether those harmful mutations would accumulate and cause fitness declines that made the northern white rhino's fitness lower than the southern white rhino.
Then in order to predict what those mutations would do when a northern white rhino population is restored from banked cells in the frozen zoo, we used genomic simulations and we said, "Okay, well if we were to take eight of those individuals from the frozen zoo, clone them and start a population of over 10 generations, what would that look like? What would fitness look like in generation 1, 2, 3 and all the way through generation 10?"
And then we also modeled taking those same eight individuals, starting the population in generation zero, and then every generation after that we introduced one new cell line into — or one new cloned individual back into — the population. Basically modeling this regenerative source of genetic diversity, or this bank of genetic diversity that we have in the frozen zoo, and we found that the populations that had founders reintroduced every generation, they did much better. They didn't suffer any fitness declines like the ones that were just founded once in generation zero and then allowed to to from there over the next 10 generations.
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"We still need to to use all of the traditional conservation methods that we've always used."
What are the next steps now that this technology has demonstrated to work?
What these models have shown is that the source of genetic diversity that we have in these cells is enough to restore a healthy population. But in order to restore a healthy population, we need to be able to use these cell lines and actually clone northern white rhino embryos, or create northern white rhino sperm and eggs that then we can use for in vitro fertilization to make an embryo from there.
We need to implant the embryo into a southern white rhino surrogate mother, and she needs to carry her baby to term, and then critically we need to have a habitat that we can release these rhinos into in the wild. They need to have all of the protections that should have been given to them before their population was reduced to just two females. They need to have protection from poaching. They need to have adequate space and healthy habitats for them to live in.
Do you have any personal stories of interactions you've had with rhinos through your research?
Well, we do have a herd of southern white rhinos here. I've actually never interacted with the northern white rhino because by the time I started at the zoo, there were only three left. There was a male, but he passed away a few years ago. Now it's just the two left. But from what I've seen of the southern white rhinos, the closely related subspecies, they're a very gentle and sweet species. That's not to say that that in the wild they'll be gentle and sweet with you, but I've seen the moms with their babies, and the babies wallowing in the mud, and they're really a unique species — doing our best to preserve them is really our moral obligation.
I want to emphasize again that these new sorts of cellular technologies are only one tool in the toolbox. We still need to to use all of the traditional conservation methods that we've always used. Like I said before, we still need to protect these species and their habitats. We can't just expect that these methods are sufficient to save a species and to end the extinction crisis. This is just one tool in the toolbox, and the reason we have this tool for this species is because we thought ahead to bank these cells. There are increasing efforts to create these biobanks of living cells so that we can have this genetic material for the future. I think that banking species, even before banking cells from species, even before they suffer these really severe declines, is going to be a really critical resource for the future.
about conservation
Matthew Rozsa is a staff writer at Salon. He received a Master's Degree in History from Rutgers-Newark in 2012 and was awarded a science journalism fellowship from the Metcalf Institute in 2022.
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Mellins, who studied autoimmune disease and co-founded a large pediatric rheumatology research network, was a tireless mentor and advocate for her field.
April 12, 2024 - By Erin Digitale
Betsy Mellins “wanted other people to care about the science as much as she cared, because it was science that would lead to better treatments for children,” Jennifer Frankovich said. Stanford Medicine
Elizabeth “Betsy” Mellins, MD, professor of pediatrics at the Stanford School of Medicine, died March 24. She was 72.
Mellins was a pediatric rheumatologist and immunologist whose laboratory made important discoveries about childhood inflammatory diseases. She was also a dedicated advocate for her specialty, a founder of one of its largest research networks, and a devoted and tenacious mentor to young scientists and physicians.
“Dr. Mellins was a consummate physician-scientist whose research acumen was driven by her deep compassion for children living with juvenile arthritis and other autoimmune diseases,” said Lloyd Minor , MD, dean of the Stanford School of Medicine and vice president for medical affairs at Stanford University. “Not only did she make important discoveries in her own lab, she worked tirelessly to expand research opportunities for everyone in her field, mentoring so many physicians to the ultimate benefit of young patients who can now access safer and more effective treatments for challenging chronic illnesses.”
Mellins tackled several difficult problems in immunology, focusing her research on a form of childhood arthritis, especially how immune markers known as MHC class II molecules function as inherited risk factors. Her recent work helped physicians understand an emerging, life-threatening lung complication of systemic juvenile idiopathic arthritis, or Still disease. Although it is not fully understood, scientists hypothesize that some newer drugs cause an immune-system imbalance in certain patients that leads to this complication. Mellins also gathered evidence for the autoimmune underpinnings of a severe pediatric psychiatric condition called pediatric acute-onset neuropsychiatric syndrome, or PANS. When her findings ran counter to perceived wisdom, she was adept at overcoming others’ skepticism.
“She was brilliant: She had the gift of not only knowing the science, but how to share it with the rest of the world,” said Jennifer Frankovich , MD, clinical professor of pediatrics and director of the Stanford PANS research program and the Immune Behavioral Health Clinic at Lucile Packard Children’s Hospital Stanford. “She wanted other people to care about the science as much as she cared, because it was science that would lead to better treatments for children.”
Having entered her profession at a time when female physician-scientists were rare, she worked hard to expand opportunities for young researchers, especially women.
“She loved finding and nurturing bright, interested young talent: undergrads, PhD students, postdocs, residents and fellows,” said Vivian Saper, MD, adjunct clinical professor of pediatrics. “Anybody who had gone through Betsy’s lab had a friend and mentor for life.”
Mellins was born Dec. 16, 1951, in Minneapolis, and grew up in Manhasset, New York, as the eldest child of an academically oriented family. Her father, Harry Mellins, MD, was a radiologist on the faculty of Harvard Medical School, and her mother, Judith Weiss Mellins, held a master’s degree in economics from Radcliffe College, which would later become part of Harvard. Mellins had two younger brothers, Bill and Tom.
After completing high school in 1969, Mellins earned an undergraduate degree from Cornell University in political science. While at Cornell, she enrolled for a summer quarter at Stanford and fell in love with it. She thought about becoming a teacher, but changed course.
“She had been voted ‘most likely to succeed’ in high school, and the best possible career path for a brilliant woman in 1969 was schoolteacher,” said her daughter, Lisa Mendelman.
Instead, Mellins did a post-baccalaureate year at MIT and went to Harvard Medical School, graduating in 1978. She then completed a pediatric residency at the University of Colorado Health Sciences Center in Denver, and a final year of residency and clinical fellowship in pediatric rheumatology at the University of Washington in Seattle, where she went on to a postdoctoral research fellowship in developmental biology.
While in medical school, Mellins spent a summer in the Sonoran Desert on the Tohono Oʼodham reservation in Sells, Arizona, gaining clinical experience. There, she met Paul Mendelman, MD, a physician in the U. S. Public Health Service. They were together for 48 years, marrying in 1980.
“Years later, she would say that if there had been mentors available, she would have been mentored to get a PhD, not an MD, based on her interests,” Lisa Mendelman said. “She was striking out into such unprecedented territory. It explains her lifelong commitment to scientific mentorship, to giving other generations experiences she did not have.”
After completing her training, Mellins held faculty positions at the University of Washington and the University of Pennsylvania before being recruited to Stanford Medicine as an associate professor of pediatrics in 1996. In her laboratory, Mellins led studies of how different genetic variations of MHC II molecules contribute to a vulnerability to autoimmune disease. Her team investigated how immune cells called monocytes function in a variety of immune diseases, including Still disease, rheumatoid arthritis, psoriatic arthritis, asthma and PANS, seeking clues to disease pathogenesis and biomarkers.
Anybody who had gone through Betsy’s lab had a friend and mentor for life.
“Betsy had a relentless work ethic, always excited by new findings and developing the next question she wanted to solve,” said Mark Kay , MD, PhD, professor of pediatrics and of genetics. “She was a remarkable colleague in so many ways. Not only will I miss our scientific discussions but our friendship that included long talks about world events, music, art and our families.”
“She was the sort of person who would call and say, ‘Could we have coffee? I have this interesting idea and want to run it by you,’” said PJ Utz , MD, professor of medicine. “She was motivated by innate curiosity and a desire to discover.”
“Her North Star, within her research, was understanding the mechanism of disease and trying to look differently at the illnesses so you can cure them if possible,” Saper said.
One of Mellins’ most notable research findings, in collaboration with Saper, focused on drugs introduced in the early 2010s to block IL-1 and IL-6, molecules involved in the immune phenomenon known as “cytokine storm.” The drugs are used for Still disease, which is characterized by high fevers, joint inflammation and a risk of cytokine storm.
In 2013, reports emerged of mysterious, life-threatening lung problems in some Still patients, whose lungs showed unique changes in imaging and pathology. Mellins led detective work to demonstrate that children who experienced the problem had specific variants of certain MHC II genes. The discovery has enabled doctors to screen children for the genetic marker and use these drugs with caution in vulnerable children, monitoring them closely for early signs of the complication, or in some cases, avoiding giving the drugs to high-risk patients.
“It really changed the way we practice,” said Christy Sandborg , MD, professor emeritus of pediatrics, who was hired as clinical chief of pediatric rheumatology in 1997 and worked closely with Mellins.
In the late 1990s, soon after arriving at Stanford Medicine, Mellins recognized the need for a national research network in pediatric rheumatology and founded the Childhood Arthritis and Rheumatology Research Alliance (CARRA).
“Pediatric rheumatology at that period was very under-resourced, and it was impossible to do research on rare autoimmune diseases,” Sandborg said.
After attending an Arthritis Foundation special workshop on research in juvenile arthritis, Mellins was motivated to build a network that would offer funding and other resources for basic science in pediatric rheumatology and make it easier to conduct large, multicenter clinical trials. She began working with colleagues at Stanford and across the country on the project.
“Everyone in the field was so excited,” Sandborg said.
Among her contributions to the organization, Mellins wrote the first grant to the Arthritis Foundation for CARRA’s support and served as its first chairperson and head of the CARRA research grant committee.
“She recognized that you can do strong clinical work, but if you don’t do lab research, you don’t advance the field,” Sandborg said. “She contributed greatly to that over many years.”
CARRA is now a nonprofit organization with a membership of more than 400 pediatric rheumatologists and researchers across North America. It has garnered millions of dollars in funding and hosts a biorepository that scientists use for rheumatology research.
Mellins worked behind the scenes at Stanford Medicine to help recruit incoming medical students who wanted to pursue careers as physician-scientists, which she saw as an essential component of expanding the pipeline of medical researchers, Utz said. “She made a big difference in the recruitment and retention of women in our training programs, including the immunology PhD program and more recently the Berg Scholars Program,” he added.
Frankovich, who was mentored by Mellins early in her career, continued to rely on her advice as they studied PANS, an abrupt-onset, severe psychiatric condition that is thought to be secondary to post-infectious inflammation.
“Her advice was helpful because it wasn’t just about publishing a novel finding; it was about systematically deciphering a complex condition,” Frankovich said. “She was a realist: She knew that it would be very difficult and complex to prove that PANS was secondary to inflammation.”
She cared about the patients I was telling her about, the parents whose kids were affected and the researchers working on the disease.
One big obstacle to studying PANS was access to the parts of the brain involved — the investigators couldn’t biopsy affected brain regions, for example.
“Betsy said, ‘It will be more work to prove an immune hypothesis because we won’t have tissue,’” Frankovich said. “She helped me figure out the biological principles we needed to prove. And then she supported me all the way through each obstacle. When I came to her with a hypothesis, she would say, ‘We can do this, we can solve it,’ and then she would immediately dive into the next steps.
“All along the way she just cared: She cared about the patients I was telling her about, the parents whose kids were affected and the researchers working on the disease.”
Mellins and her husband loved to host visitors from all over the world, their daughter said, including relatives from the United Kingdom and Israel.
“For a recent wedding anniversary, I made them an innkeeper’s book, an album of notes and pictures from the many people who have stayed with them,” Mendelman said. “She deeply valued human connection and she was so gifted at it; she would connect, and stay connected, with anyone.”
Riding his bicycle past Mellins’ and Mendelman’s home on the Stanford campus, Utz could always tell when they had their grown children, grandchildren or other relatives or friends visiting. “There would be five or six cars parked outside,” he said, chuckling.
Mellins and her husband loved live events, attending theater, sports, jazz concerts and modern dance with equal gusto. They didn’t have a TV; instead, “They went to endless performances all over the Bay Area,” Lisa Mendelman said. “Her vision of a balanced life included all of these humanistic things.”
Mellins also loved to read and stayed up to date on contemporary art and literature, deriving great pleasure from finding exactly the right book to give a friend or colleague.
“She drove all the way to my house to give me a copy of the brand-new, hot-off-the-press pediatric rheumatology book,” Frankovich said, adding, “I thought, ‘How did you know this was the book I wanted?’”
Mellins is survived by her husband, Paul Mendelman; son, Jeff Mendelman; daughter, Lisa Mendelman (David Jack); stepson, Adam Mendelson (Catherine Wallis); grandchildren, Oscar and Aila Mendelman Jack; brother Tom Mellins (Judy Weinstein); and nephew, Sam Mellins.
Donations in her honor can be made to a designated fund at the Lucile Packard Foundation for Children’s Health: https://my.supportlpch.org/Mellins .
About Stanford Medicine
Stanford Medicine is an integrated academic health system comprising the Stanford School of Medicine and adult and pediatric health care delivery systems. Together, they harness the full potential of biomedicine through collaborative research, education and clinical care for patients. For more information, please visit med.stanford.edu .
Exploring ways AI is applied to health care
We examine banking regulation in a macroeconomic model of bank runs. We construct a general equilibrium model where banks may default because of fundamental or self-fulfilling runs. With only fundamental defaults, we show that the competitive equilibrium is constrained efficient. However, when banks are vulnerable to runs, banks’ leverage decisions are not ex-ante optimal: individual banks do not internalize that higher leverage makes other banks more vulnerable. The theory calls for introducing minimum capital requirements, even in the absence of bailouts.
The views expressed herein are those of the authors and not necessarily those of the Federal Reserve Bank of Minneapolis, the Federal Reserve System, or the National Bureau of Economic Research.
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122 The Best Genetics Research Topics For Projects. The study of genetics takes place across different levels of the education system in academic facilities all around the world. It is an academic discipline that seeks to explain the mechanism of heredity and genes in living organisms. First discovered back in the 1850s, the study of genetics ...
Learn more about Genetics as a subject, how to choose one of the 119 genetics research topics in this field, and what you need to know while writing. Toll-free: +1 (877) 401-4335. Order Now. About; Prices; ... The next step after choosing genetics research paper topics is to identify relevant sources that will back your research. For Genetics ...
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You can find research titles in areas like cytogenetics, genomics, clinical genetics, and genetics counseling here, as well as appropriate biology topics to write about. These topics will give you solid research ideas and a perfectly formulated paper: Discuss the kinds of genetically transmitted diseases.
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April 12, 2024 - By Erin Digitale. Betsy Mellins "wanted other people to care about the science as much as she cared, because it was science that would lead to better treatments for children," Jennifer Frankovich said. Elizabeth "Betsy" Mellins, MD, professor of pediatrics at the Stanford School of Medicine, died March 24. She was 72.
Working Paper 32341. DOI 10.3386/w32341. Issue Date April 2024. We examine banking regulation in a macroeconomic model of bank runs. We construct a general equilibrium model where banks may default because of fundamental or self-fulfilling runs. With only fundamental defaults, we show that the competitive equilibrium is constrained efficient.