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New research offers insights on numerous addiction-related genes..
Updated April 18, 2024 | Reviewed by Gary Drevitch
Are you mostly a product of the genes you inherit or your experiences in life? This question intrigues many people, including addiction researchers. In this post, I provide an overview of key research on the genetic inheritance of substance use disorders such as alcohol use disorder, opioid use disorder, and cannabis/marijuana use disorder.
Some researchers, such as at the Washington University School of Medicine in St. Louis, seek to identify genes common to addictive disorders based on information from the DNA code of more than a million people. So far, these researchers have identified 47 genetic variants linked to substance disorders, including 32 for tobacco, 9 for alcohol, 5 for cannabis, and one for opioid addiction.
Alcohol use disorder (AUD) has been studied for years, starting with twin studies comparing identical or fraternal twins and their risk for AUD and adoption studies comparing adopted children to their birth parents. These studies demonstrated that the heritability of alcohol dependence is up to 60%. Some genes increase a person’s risk for AUD, while others decrease that risk directly or indirectly. For instance, some people of Asian descent carry a gene variant altering their rate of alcohol metabolism, causing symptoms like flushing, nausea, and rapid heartbeat when they drink even a little alcohol. These genes may help protect them from developing AUD.
Twenty-two percent of adults in the United States have at least one biological parent with alcohol use disorder (AUD). The odds of lifetime AUD are 2.5 times higher for the offspring of one AUD parent and 4.4 times higher for the offspring of two AUD parents, as compared to children of non-AUD parents.
Genes are not destiny, and environmental experiences also play a role. For example, a study of more than 3 million people suggests that marriage may protect against AUD, particularly for those with genetic loading for AUD. However, researchers also noted that while marriage to a spouse without alcohol problems may protect against alcohol use disorders, being married to a spouse with alcohol use problems has the opposite effect, increasing one's risk.
It is also known that pain , either psychological or physical, as well as PTSD and trauma , can make AUD more likely, as the additive relief of distress seems to increase brain-related rewards derived from alcohol.
Currently, treatment of AUD is limited to only several FDA-approved and a few non-approved drugs which often have only modest effects in inhibiting drinking, largely because they work well only for certain individuals. But thanks to new research, we now know which individuals are most likely to respond significantly better to one often-used AUD treatment: naltrexone.
Raymond Anton, Jr., MD is an international expert on alcohol use disorder, an addiction psychiatrist, and clinical neuroscientist , as well as researcher of genetic variants predicting treatment-response to AUD medications such as naltrexone. He and his colleagues discovered that it was not one gene, but rather a combination of genes known to affect key brain chemicals impacted by alcohol that made a difference in whether naltrexone was effective in people with AUD. For example, in two different studies, they found that a gene variation known to impact the brain opiate receptor gene, combined with variations in two genes thought to control brain dopamine , influenced how well naltrexone worked in reducing/controlling drinking in individuals with AUD. The first study evaluated genes inherited from one’s parents (germ line mutations) and the second evaluated epigenetic markers (likely acquired over a lifetime). Epigenetic markers refer to changes to gene functioning occurring in life secondary to behavior (such as drinking alcohol) or various outside influences such as other diseases, stress , etc.
As a result of Anton’s research, it’s clear that personalized treatment and choosing the right medication for the right patient is becoming possible in AUD. For example, performing a few relatively simple genetic tests identifying variations in three brain genes will enable physicians to predict which patients would benefit most from taking naltrexone, an FDA-approved medication for AUD. If tests show patients will not benefit, other medications could be tried. Alternatively, new medications might be developed based on genetic testing results. Rather than taking a drug that could never work well because of one’s genetic makeup, wouldn’t it be best to know this upfront and potentially choose an alternative? Also, knowing a drug is likely to work might encourage more people to consider medication-assisted treatment.
Early life experiences, such as childhood trauma, parental alcohol use, and exposure to alcohol during critical periods of brain development, may have lasting effects on neurobiological systems involved in addiction. These environmental influences may interact with genetic predispositions, shaping an individual's vulnerability to AUD. Early alcohol or drug experimentation; physical, sexual , or emotional trauma; and other risk factors, such as second- or third-hand smoke exposure, abusive parenting , parental substance use, and other factors also play a role.
Sometimes, the environment plays a key role in the development of a disorder. The findings in one study showed that environmental factors explained more of the risk for opioid dependence than polygenic risk scores—a number estimating how genetic variants affect an individual's risk of developing a disease. Polygenic risk scores combine different versions of many genes related to a specific disease. The researchers found selected environmental factors, such as annual household income and education level, explained an average three-fold greater risk for opioid use disorder (OUD) compared with opioid use disorder polygenic risk scores alone.
But don’t count out genetics. Although researchers found environmental factors played a larger role, opioid polygenic risk scores explained 8% of the variance of the risk for opioid dependence. The study also found that among people with higher polygenic risk scores, individuals with a higher education level were less likely to have opioid dependence, whereas those with posttraumatic stress disorder (PTSD) were more likely to have opioid dependence.
A new study by Yale School of Medicine researchers assessed how genetic and psychosocial predictors of opioid use disorder are predictive for a person becoming dependent on opioids. In the VA and Yale study, researchers analyzed genetic data from nearly 2,000 people who participated in a prior study by Yale and University of Pennsylvania researchers (called the Yale-Penn study) on substance use genetics. Researchers examined the role of recently developed polygenic risk scores for opioid use disorder and environmental factors such as education level, adverse childhood experiences , and psychiatric conditions. “We’ve made great progress in understanding some of the genetic and environmental factors that influence risk for opioid use disorder, but we know less about the complex interplay between them,” said Yale’s Joseph Deak.
Marijuana is the most commonly used federally illegal drug in the United States, with half of all Americans saying they have tried it at some time. Experts estimate that among people who use cannabis , up to 30% may have marijuana use disorder (which is the same as cannabis use disorder, or CUD). The risk of developing cannabis use disorder is greater in people who start using marijuana during youth or adolescence and who use marijuana more frequently.
It has been estimated that 50%-70% of an individual’s risk for cannabis use disorder is due to genetic factors , although environmental factors also play a role. Yale’s group, led by Joel Gelertner , has been trying to identify these risks and predict who might develop cannabis use disorder, with its many negative outcomes, including increased risk of psychiatric disorders, heart disease, cancer, and respiratory illnesses.
Researchers examined a genome-wide set of genetic variants in individuals from multiple ancestry groups enrolled in the U.S. Department of Veterans Affairs’ Million Veteran Program, one of the world’s largest genetic databases. They identified dozens of genetic variants linked to cannabis use disorder and a variety of behavioral and health issues associated with CUD.
The findings offer insights into genetic factors and potentially related health risks. For instance, researchers found that variants of genes encoding for three different types of receptors on neurons were associated with an elevated risk for developing CUD. In addition, variants linked to CUD were associated with the development of lung cancer. The authors noted that more work needs to be done to separate the effects of tobacco use and other environmental factors on cancer diagnoses from those of marijuana use.
Genetics researchers have leveraged new CUD genomics data to complete a genetically-informed analysis with unprecedented power, which showed causal relationships between CUD and with risk for developing SUDs in April 2024. This new finding is the strongest evidence to date that cannabis use disorder and even cannabis use significantly increases the risk for other substance use disorders.
Personalized medicine in addiction treatment could revolutionize the current approach to substance use disorders. Here's how:
Genetic and pharmacogenomics testing. As with cancer treatment, genetic testing could identify individuals predisposed to addiction or who may respond differently to certain medications used in addiction treatment. For example, certain genetic variations might influence how a person metabolizes and responds to medications like naltrexone, methadone, or buprenorphine, all used in opioid addiction treatment. Biomarkers also could help predict individuals who may be at higher risk of relapse .
Behavioral lifestyle and psychological profiling. Personalized medicine in addiction treatment considers individual differences in behavioral and psychological factors. Tailored interventions could include advice on exercise, diet , and sleep, and providing relapse-prevention counseling, support groups, vocational training, housing assistance, and other resources based on a patient’s specific needs and circumstances.
Anton RF,et al . Opioid and Dopamine Genes Interact to Predict Naltrexone Response in a Randomized Alcohol Use Disorder Clinical Trial. Alcohol Clin Exp Res. 2020 Oct;44(10):2084-2096. doi: 10.1111/acer.14431. Epub 2020 Sep 19. PMID: 32772383; PMCID.
Polimanti R, et al. Multi-environment gene interactions linked to the interplay between polysubstance dependence and suicidality. Transl Psychiatry. 2021 Jan 11;11(1):34. doi: 10.1038/s41398-020-01153-1. PMID: 33431810; PMCID: PMC7801457.
Galimberti, M., et al. Genetic influences and causal pathways shared between cannabis use disorder and other substance use traits. Mol Psychiatry (2024). https://doi.org/10.1038/s41380-024-02548-y
Zhou, H., et al. Multi-ancestry study of the genetics of problematic alcohol use in over 1 million individuals. Nat Med 29, 3184–3192 (2023). https://doi.org/10.1038/s41591-023-02653-5
Mark S. Gold, M.D., is a pioneering researcher, professor, and chairman of psychiatry at Yale, the University of Florida, and Washington University in St Louis. His theories have changed the field, stimulated additional research, and led to new understanding and treatments for opioid use disorders, cocaine use disorders, overeating, smoking, and depression.
Understanding what emotional intelligence looks like and the steps needed to improve it could light a path to a more emotionally adept world.
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Wan nur amalina zakaria.
1 Human Genome Centre, School of Medical Sciences, Universiti Sains Malaysia Health Campus, Kubang Kerian, 16150 Kelantan Malaysia
2 Cancer Research Malaysia, 47500 Subang Jaya, Selangor Malaysia
3 Department of Health Information Management, Universitas Indonesia Maju, Jakarta, Indonesia
4 Department of Physiology, School of Medical Sciences, Universiti Sains Malaysia, Kubang Kerian, 16150 Kelantan Malaysia
Zahiruddin othman.
5 Department of Psychiatry, School of Medical Sciences, Universiti Sains Malaysia, Kubang Kerian, 16150 Kelantan Malaysia
The datasets generated during and/or analysed during the current study are available from the corresponding author on reasonable request.
This article seeks to highlight the most recent trends and themes in genetic counseling that are of broad interest. A total of 3505 documents were published between 1952 and 2021, with a trend toward increase in paper/year. The most common documents are original articles (2515, 71.8%), followed by review articles (341, 9.7%). Journal of Genetic Counseling publishes the highest number of genetic counseling articles (587, 16.7%), followed by Clinical Genetics (103, 2.9%) and the South American Journal of Medical Genetics (95, 2.7%). Co-occurrence analysis revealed five research themes: genetic testing, cancer, genetic counselor, prenatal diagnosis, and psychiatry. The genetic counselor theme contained most of the recent keywords, including “covid-19,” “underrepresented population,” “service delivery models,” “workforce,” “disparities,” “service delivery,” “professional development,” “cultural competence,” “access,” “diversity,” “telemedicine,” and “health literacy.” Genetic counseling researchers may use these keywords to find topics pertinent to their future research and practice.
The term “genetic counseling” was first coined by an American scientist, Sheldon C. Reed, in 1947 [ 1 ]. According to the Ad Hoc Committee of the American Society of Human Genetics, genetic counseling addresses human issues related to the incidence or risk of a genetic disorder in a family [ 2 ]. Seymour Kessler later defined genetic counseling as psychological contact or psychotherapy [ 3 ]. The 2006 National Society of Genetic Counselors task force described genetic counseling as helping people understand and adapt to the physical, psychological, and familial implications of genetic contributions to disease [ 4 ].
Future trends in clinical genetic and genetic services are fast evolving and have been the subject of recent publications [ 5 – 8 ]. However, the global situation of genetic counseling research, as well as trends and subjects of broad interest in this area throughout the last 70 years, have not been adequately covered since the focus was mainly on specific journals [ 5 ] or countries [ 6 – 8 ]. We, therefore, mapped genetic counseling research globally using the Scopus database and the VOSviewer tool to provide academics and practitioners in this field, information on the scientific landscape as well as important and emerging themes.
Search strategy.
The literature was searched and retrieved from the Scopus database on January 19, 2022. The Scopus database is regarded as one of the most significant and exhaustive collections of scientific information in the world [ 9 ]. The following search string was used in the article title: “genetic counsel*ing”. All document types written in the English language and released between 1952 and 2021 were included, except for erratum. The retrieved documents were subjected to bibliometric analysis using VOSviewer.
A total of 3505 documents were retrieved. The most common document type was original articles (2515, 71.8%), followed by review articles (341, 9.7%). Letters, book chapters and conference papers, each contributed about 4.7–4.8% of the documents. Notes, editorials, short surveys and books contributed about 4.4% in total. From 1952 to 1967, the document number was one digit. From 1968 to 2010, the number of papers increased to two digits; from 2011 to 2021, it was three digits (Fig. 1 ).
Trends in the number of publications from 1952 to 2021 in the field of genetic counseling.
The top genetic counseling journals published 1163 documents, accounting for 33.2 per cent of all publications (Table 1 ). The Journal of Genetic Counseling had 587 publications with a Cite-Score of 3.8 and SJR 2020 of 0.867. Only three journals, the American Journal of Human Genetics, Genetics in Medicine, and Journal of Medical Genetics, have an SJR greater than two. The Scopus database has discontinued its coverage of the two of the top journals, while the American Journal of Medical Genetics has been renamed the American Journal of Medical Genetics, Parts A, B, and C.
Top publishing journals on genetic counseling research.
TP total number of publications, TC total citations, Cite-Score average citations received per document published in serial, SJR SCImago Journal Rank, SNP Source Normalized Impact per Paper.
a discontinued in Scopus.
Network visualization of keyword co-occurrence map was constructed with a threshold of nine keyword co-occurrences in VOSviewer. The top keywords ranked by frequency were ‘genetic counseling’ ( n = 1156), ‘genetic testing’ ( n = 205), ‘prenatal diagnosis’ ( n = 104), ‘breast cancer’ ( n = 97), ‘genetic counselor’ ( n = 68), ‘genetics’ ( n = 59), ‘brca1’ ( n = 49), ‘education’ ( n = 48), ‘brca2’ ( n = 45), and ‘hereditary cancer’ ( n = 44).
To identify themes in the literature, we studied the terms in each cluster. Five clusters appear from the map in Fig. 2A with the following themes: genetic testing (red cluster), cancer (green cluster), genetic counselor (blue cluster), prenatal diagnosis (yellow cluster) and psychiatry (purple cluster). The overlay visualization of keyword co-occurrence map indicates the publishing dates when specific topics were most popular. Many newer keywords (yellow nodes) were found mainly in the blue cluster (genetic counselor theme) compared to other clusters (Fig. 2B ).
A Network visualization, B Overlay visualization.
The increasing number of publications per year may indicate the development trend in the field of genetic counseling. The observed trend may be attributable to the rapid evolution of clinical genetic services [ 5 – 8 ]. Genetic counselors collaborate with geneticists and other medical specialists to provide genetic counseling services. Genetic counseling research, which strives to improve the quality and availability of genetic counseling services, benefits from these clinical data. Original articles contributed to a large proportion of the publication outputs and increased significantly over the last decade. This finding indicates that the field is expanding in line with the development of genomic medicine [ 10 ]. Funding for implementation and outcome research is urgently needed to expand the scientific evidence for genetic counseling practice [ 10 ].
The present analysis revealed that 1163 documents or 33.2% of studies were published in the top 10 journals. Of these, more than half of the relevant documents were published in the Journal of Genetic Counseling . This indicates that this is the most active journal publishing a large number of documents and has a substantial impact on the field of genetic counseling. Among the top journals, the results revealed only three journals have SCImago Journal Rank (SJR) greater than two; the American Journal of Human Genetics, Genetics in Medicine , and Journal of Medical Genetics . As a result, it can be deduced that approximately 170 documents, or 4.9% of all genetic counseling publications, were published in high-impact journals.
The keyword co-occurrence map identified five major clusters in the genetic counseling field (Fig. 2A ). These are genetic testing (red cluster), cancer (green cluster), genetic counselor (blue cluster), prenatal diagnosis (yellow cluster) and psychiatry (purple cluster) themes. Some of these topics (cancer and prenatal) have earlier been identified by content analysis study [ 5 ]. Genetic counseling should be regarded as an integral part of the genetic testing process [ 11 ]. Thus, genetic testing appeared as the main theme with the largest cluster. There are several categories of genetic testing that require genetic counseling. In diagnostic genetic testing, the test is performed on symptomatic individuals. While pre-test genetic counseling may not always be necessary, post-test genetic counseling should be offered especially when the result is positive. Conversely, pre-and post-test genetic counseling should be offered in other types of genetic testing such as predictive, susceptibility (risk), carrier, prenatal, preimplantation genetic diagnosis (PGD), and genetic screening. For pharmacogenetic testing, the need for genetic counseling will depend on whether the results have other implications rather than decisions about drug treatment [ 11 ].
The second theme in the genetic counseling field is cancer. Pathogenic variants in genes can be broadly grouped into sporadic, familial, and hereditary cancers. Sporadic cancers, making up 75–80% of all cancers, are caused by acquired mutations in tumour cells. About 10–20% of cancers are familial but not caused by a gene mutation. On the other hand, familial cancers are attributed to shared family factors. Finally, hereditary cancer is evaluated when a person has a maternal or paternal family history with suggestive symptoms, depending on the type of cancer and specific hereditary syndrome. More studies are needed to build a cancer genetic counseling service to enable fair access for all patients [ 12 ]. In order to establish a cancer genetic counseling service, more studies are needed to look into the requirements and obstacles of patients, family members, and specialists particularly, in different settings/countries to ensure equitable access to all patients [ 12 ].
Genetic counselor, the third theme, is a health practitioner who has been trained to evaluate genetic testing results, both scientifically and medically, while also considering psychological, ethical, and family concerns [ 13 ]. The genetic counselor theme has the highest number of recent keywords based on the number of yellow nodes (Fig. 2B ). These keywords with the average publication year 2018 onwards include ‘covid-19’, ‘underrepresented population’, ‘service delivery models’, ‘workforce’, ‘disparities’, ‘service delivery’, ‘professional development’, ‘cultural competence’, ‘access’, ‘diversity’, ‘telemedicine’ and ‘health literacy’. These keywords are related to the genetic counselors’ challenges and needs related to genetic service delivery models.
The fourth theme in the genetic counseling field is prenatal diagnosis. The need for prenatal genetic counselling is increasing worldwide due to advances in prenatal screening and diagnostic tests [ 14 ]. Given the complexity of genetic testing information, the role of genetic counseling at pre-and post-test is to increase knowledge, decrease anxiety, avoid decisional conflicts, and aid in the interpretation of test results, thereby helping an individual make an informed decision [ 14 , 15 ].
The last theme in the genetic counseling field is psychiatry. Psychiatric genetic counseling has benefits for people with psychiatric disorders and their families despite the limited genetic testing available [ 16 – 18 ]. The role of genetic counseling is to help people understand that mental illness is not their fault, but there are things that they can do to protect their mental health [ 19 ]. It is an emerging speciality within clinical genetics [ 20 ].
The main limitation of our study is that, despite Scopus’ vast coverage [ 9 ], we might have overlooked some important studies in other databases. Second, new research is being released almost daily, and the data in this analysis was up to January 19, 2022. Third, we might have missed several relevant documents if the authors had not included the term “genetic counseling” in the article titles. Lastly, the research themes in this study were derived from keyword co-occurrence thematic analysis without a deeper analysis.
The field of genetic counseling is growing as genomic medicine develops. Genetic counseling research has identified the following themes: genetic testing, cancer, genetic counselor, prenatal diagnosis, and psychiatry. Future directions in genetic counseling research may be related to the requirements and challenges of genetic counselors, according to the emerging topics.
WNAZ designed the study; RZ and AW contributed to data extraction and prepared the first draft of the manuscript; and all authors reviewed and provided feedback on the manuscript.
This research received no specific grant from any funding agency in the public, commercial, or not-for-profit sectors.
Competing interests.
The authors declare no competing interests.
Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
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by Monash University
New research published in the journal Cellular and Molecular Gastroenterology and Hepatology sheds light on disease mechanisms common to irritable bowel syndrome (IBS) and cardiovascular diseases (CVD).
Led by Dr. Leticia Camargo Tavares, a postdoctoral fellow at the Hypertension Research Laboratory within Monash University's School of Biological Sciences, the study reveals novel insights into the genetic underpinnings of IBS, offering potential avenues for therapeutic intervention.
IBS is one of the most prevalent gastrointestinal disorders globally, affecting up to 10% of the population, with a disproportionate impact on women.
It is characterized by a complex range of symptoms including abdominal pain , bloating, diarrhea and constipation. IBS significantly compromises patients' quality of life. Despite its widespread prevalence, the cause of IBS remains unclear, thus limiting treatment options.
An international consortium of researchers, drawing expertise from Monash University (Australia), CIC bioGUNE (Spain), LUM University, IRGB-CNR, CEINGE, and the University of Naples Federico II (Italy), as well as the University of Groningen (Netherlands), embarked on a comprehensive investigation.
Analyzing data from two large European population cohorts—UK Biobank and Lifelines—the team scrutinized the genetic landscapes of 24,735 people with IBS and 77,149 symptom-free individuals.
Their analysis uncovered four genomic regions, including two previously unidentified loci, associated with increased susceptibility to IBS.
These genetic hotspots implicate pathways central to gastrointestinal motility, intestinal mucosal integrity, and circadian rhythm regulation.
"Although we're yet to conclusively pinpoint specific genes and mechanisms, these findings provide novel insights into IBS pathophysiology, highlighting potential therapeutic targets. So, we expect follow-up research to build on these discoveries," Dr. Tavares said.
Moreover, the researchers found a remarkable link between IBS predisposition and various cardiovascular ailments, encompassing hypertension, ischemic heart disease , and angina pectoris.
Professor Mauro D'Amato, senior author and study supervisor from CIC bioGUNE and LUM University, described this new evidence as the most exciting outcome, underscoring the potential for shared therapeutic modalities.
In another important finding, the study revealed that IBS heritability (the weight of genes in determining one's risk of disease), might be higher than previously thought. This, the authors say, may stem from their adherence to standardized classification criteria in delineating IBS phenotypes, notably the Rome Criteria from the Rome Foundation.
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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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Disease genetics, of human, animal and plant diseases, investigates the consequences of pathogenic (host) genetic variants as the major causes of heritable disorders (monogenic diseases) as well as the consequences of genome variation in the population to the variable predisposition of the individual to complex diseases with infectious or environmental causes.
Pei et al. applied Gaussian process-based machine learning to capture dynamic spatial covariance relationships managed by proteostasis to mediate cooperative folding on a residue basis as a standard model for precision disease management.
Genetic variants acquired early during embryogenesis can affect numerous tissues. The authors review the phenomenon of embryonic mosaicism, with a focus on small variants, and discuss mechanisms of cell competition that allow mosaic clones to expand, as well as the functional consequences of mosaicism for embryo viability and the health of the organism.
A study shows that congenital heart defects in Down syndrome are in part caused by increased dosage of the DYRK1A gene, which lies on chromosome 21, leading to reduced proliferation and mitochondrial dysfunction in cardiomyocytes.
A molecular autopsy is undertaken in cases of sudden cardiac death with no definitive cause found after conventional autopsy, with the aim of identifying a pathological genetic variant that could account for the death. Greater awareness of malignant arrhythmias in the absence of structural changes in inherited cardiomyopathies has increased the applicability of molecular autopsies, and resulted in improved care of families but new challenges for clinicians.
Studies in 2023 have described eight new monogenic autoinflammatory diseases and their accompanying disease-causing mutations, uncovering clinical phenotypes, pathogenic mechanisms and therapeutic targets. Researchers have identified autoinflammatory pathways linked to mitochondrial dysfunction or overactivation of SRC family kinases.
Johansson et al. recently described the genetic diagnosis of a large family with Gusatvson syndrome. The pathogenic variant in this family is an in-frame deletion in RBMX , also known as HNRNPG . This work expands the definition of the HNRNP-Related Neurodevelopmental Disorders and provides insights into analyzing the related conditions.
Metabolic dysfunction-associated steatotic liver disease (MASLD) has a strong heritable component, and genome-wide association cohort studies are highlighting the major genetic determinants of this condition. A meta-analysis of these databases has now enabled expansion of the list of the inherited variants that modulate the risk of MASLD. The identification of new MASLD risk loci is improving comprehension of disease pathogenesis and individual risk stratification, and also enabling the identification of novel therapeutic targets and disease subtypes that might ultimately lead to a precision medicine approach.
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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 ...
The next step after choosing genetics research paper topics is to identify relevant sources that will back your research. For Genetics, the sources you use become even more crucial, as the field is sensitive and detail-oriented. You can't just pick up information from anywhere when analyzing Genetics. ... Related Posts. 131 Interesting LGBT ...
RSS Feed. Genetics is the branch of science concerned with genes, heredity, and variation in living organisms. It seeks to understand the process of trait inheritance from parents to offspring ...
Genomic research has evolved from seeking to understand the fundamentals of the human genetic code to examining the ways in which this code varies among people, and then applying this knowledge to ...
Genetics research is the scientific discipline concerned with the study of the role of genes in traits such as the development of disease. It has a key role in identifying potential targets for ...
Medical Knowledge-Assisted Machine Learning Technologies in Individualized Medicine Volume II. Feng Gao. Wei Wang. Xin Gao. 243 views. The most cited genetics and heredity journal, which advances our understanding of genes from humans to plants and other model organisms. It highlights developments in the function and variability o...
Of the 7 targets of launched drugs with genetic evidence, 4 had Mendelian evidence (in addition to pre-2020 GWAS evidence), out of a total of 19 Mendelian genes related to T2D (21%).
Case 12-2024: A 58-Year-Old Woman with Confusion, Aphasia, and Abnormal Head Imaging. J.J. Linnoila and OthersN Engl J Med 2024;390:1421-1430. A 58-year-old woman was transferred to the hospital ...
As we reflect on these diverse contributions in the Special Issue "Latest Advances in Molecular Genetics and Genomics (2023)", a common thread emerges: the intricate link between genetics, molecular mechanisms, and disease. These review papers collectively underscore the remarkable strides we have taken in unraveling the molecular ...
Biotech & GE Research Topic Ideas (Continued) The use of genetic engineering in enhancing the efficiency of photosynthesis in plants. Biotechnological innovations in creating sustainable aquaculture practices. The role of biotechnology in developing non-invasive prenatal genetic testing methods.
FOCUSED RESEARCH TOPICS ; 1. Behavioural genetics: Twin and family studies: Measured genetic variants: ... Molecular genetics: Molecular basis for inheritance: DNA and chromosomes: Reproduction: ... Myostatin-related muscle hypertrophy: myotonic dystrophy: Natowicz syndrome: Neurofibromatosis type I:
This issue Medical Genetics, Genomics and Bioinformatics—2022 presents recent studies on medical genomics. It contains eight research manuscripts and one review, each concerning a bioinformatics solution for the analysis of the molecular mechanisms underlying disease progression. Jeong-An Gim [ 5] presented a review of Big Data analysis using ...
Here are genetics research paper topics and ideas for different assignments. Table of Contents. 🧬 TOP 7 Genetics Topics for Presentation 2024. 🏆 Best Genetics Essay Topics. Genetics Research Questions. 👍 Good Genetics Research Topics & Essay Examples. ... genetics was mostly a science-related sphere of employment. People with a degree ...
In the second, important topics related to genetic research of various complex human diseases are discussed. The robust content and diverse array of subjects allow the book to serve as both a concise "encyclopedia" that introduces basic and essential concepts of human genetics and an in-depth review of the current understanding of genetic ...
Research Topics. The Center for Genetic Medicine's faculty members represent 33 departments or programs across three Northwestern University schools and three Feinberg-affiliated healthcare institutions. Faculty use genetics and molecular genetic approaches to understand biological processes for a diverse range of practical and clinical ...
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 ...
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 ...
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 ...
Genetic Diseases: Sickle Cell Anemia. This genetic disorder research paper aims to elucidate the underlying molecular causes of SCA as well as its symptoms, inheritance, treatment, diagnosis, and prevalence in certain populations. Genetically Identical Twins and Different Disease Risk.
Researchers have identified a variant in the gene TBX1 as key in the development of the unique morphology at the base of the skull. TBX1 is present at higher levels in humans than in closely ...
This page lists various research-topics about genetics to help researchers find relevant research articles. ... 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 ...
This significant genetic diversity likely facilitated the rapid colonization and establishment of T. maculipennis on King George Island, contributing to their successful invasion. Molecular analysis results revealed a substantial amount of genetic variation within invasive populations, which can serve as management units for invasive species ...
Population genetics is the study of the genetic composition of populations, including distributions and changes in genotype and phenotype frequency in response to the processes of natural ...
Key points. Genetic and environmental risks affect the incidence and course of substance use disorders. Progress in genetics research provides information on numerous addiction-related genes.
Genetic counseling researchers may use these keywords to find topics pertinent to their future research and practice. ... the document number was one digit. From 1968 to 2010, the number of papers ... genetic counselor, prenatal diagnosis, and psychiatry. Future directions in genetic counseling research may be related to the requirements and ...
New research published in the journal Cellular and Molecular Gastroenterology and Hepatology sheds light on disease mechanisms common to irritable bowel syndrome (IBS) and cardiovascular diseases ...
Thanks to a genetic breakthrough, a rare rhino species may be rescued from extinction New research from the San Diego Zoo using just 12 frozen cells suggests we can protect the northern white rhino
RSS Feed. Plant genetics deals with heredity in plants, specifically mechanisms of hereditary transmission and variation of inherited characteristics. Plant genetics differs from animal genetics ...
In addition to working papers, the NBER disseminates affiliates' latest findings through a range of free periodicals — the NBER Reporter, the NBER Digest, the Bulletin on Retirement and Disability, the Bulletin on Health, and the Bulletin on Entrepreneurship — as well as online conference reports, video lectures, and interviews.
New genes, pathways and therapeutic targets in autoinflammatory diseases. Studies in 2023 have described eight new monogenic autoinflammatory diseases and their accompanying disease-causing ...