Category Archives: Genetics

Genetics

Gene Variant Linked to Lower Levels of Hormonal Birth Control – The Scientist

A genetic variant present in 5 percent of the population is tied to substantially lower blood levels of the active ingredient in a hormonal contraceptive implant, researchers reported this week (March 11) in Obstetrics & Gynecology. Two other, more common genetic variations also correlated with lower levels of the hormone, although not by as much. The authors say the finding may help explain why women taking some oral hormonal contraceptives sometimes get pregnant anyway.

The biggest takeaway is that weve assumed for so long that if a woman taking birth control gets pregnant, then she must have done something wrong, coauthor Aaron Lazorwitz, an obstetrician and gynecologist at the University of Colorado, tells Wired. Instead, maybe we need to pay more attention as physicians to other things that might be going on, like genetics, so we can give better, more individualized treatment to women...

Lazorwitz and his colleagues recruited 350 women using a form of birth control that is implanted under the skin, where it slowly releases the hormone etonogestrel into the bloodstream to suppress ovulation. They tested the womens genes and monitored their blood levels of etonogestrel. People with a mutation that keeps the gene CYP3A7, which breaks down hormones, active into adulthood had lower levels of etonogestrel, on average, than those without the variant. Lower levels of etonogestrel were also associated with higher body mass index, a longer length of time women had been using the implant, and to a lesser extent with variants in the genes NR1I2(PXR) and PGR, which code for steroid receptors.

The risk of unintended pregnancy while on birth control for women who carry the CYP3A7 variant cannot be quantified. Not at this point. It's too early, Lazorwitz tells CNN. He says he doesnt think the variant will affect how well the implant works, but that it could possibly affect the action of oral contraceptives, which put lower levels of hormones into circulation in the body. Theres so much we dont know about birth control. There seem to be things outside of a womans control like genetics that could impact how well birth control works, he says. And we need to start taking those things in consideration.

The study provides a glimpse into the next questions we should be asking as to how we can improve care, Anne Davis, an obstetrician and gynecologist at NewYork-Presbyterian/Columbia University Irving Medical Center who was not involved in the work, tells Reuters. Knowing that there is a difference in how people metabolize hormones sets the stage for more research that can help us understand the experiences of women better and that can help us give the right medication to the right patient.

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Gene Variant Linked to Lower Levels of Hormonal Birth Control - The Scientist

Genetics

CooperSurgical, Fulgent partner on genetic screening panels – Medical Device Network

US-based CooperSurgical has partnered with Fulgent Genetics to provide exclusive newborn genetic screening panels to families of the CBR.

The collaboration leverages Fulgents Picture Genetics platform to offer a suite of genetic testing options through CBR, a private newborn stem cell preservation company and a CooperSurgical brand.

Fulgent Genetics chief commercial officer Brandon Perthuis said: Partnering with CBR allows us to help provide more families with actionable information about their newborns health.

Part of our mission is to use our resources and testing to improve the lives of those around us. Newborn genetic analysis serves as an illustration of this commitment, as early intervention may significantly improve health outcomes for many of these conditions.

The testing options include CBR Snapshot, which screens for more than 250 genes related to various disorders in children where early detection could be crucial.

CBR Portrait expands on this by screening for over 600 genes, including those related to rare conditions.

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The most comprehensive test, CBR Landscape, screens for more than 1,500 genes and includes a pharmacogenetic component to predict medication metabolism and potential adverse reactions.

All these Picture Genetic tests are made available exclusively to CBR clients and evaluate genes associated with conditions potentially treatable with newborn stem cells.

CoperSurgical president Holly Sheffield said: We are proud to offer our CBR families additional resources that complement our newborn stem cell services as we continue to deliver personalised, cutting-edge solutions to families nationwide.

A wholly-owned subsidiary of CooperCompanies, CooperSurgical is engaged in producing and marketing products and services for use by womens health care clinicians.

Last year, CooperCompanies acquired certain medical device assets, focused primarily on Doppler monitoring, obstetrics and gynaecology surgery markets, from Cook Medical.

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CooperSurgical, Fulgent partner on genetic screening panels - Medical Device Network

Genetics

UM Today | Faculty of Science | The intersection of genetics and advocacy – UM Today

February 12, 2024

Witta Iruvma is a fourth-year genetics student at the University of Manitoba and UMSU Womens Representative. In this interview with her, we learn about her journey in science, her challenges in the field of genetics, how she hopes the Faculty of Science supports students and her advocacy work for the UMSU Womens Centre and Black Student Empowerment Society.

1. Can you share a key moment from your journey in genetics and what sparked your interest in this field? Were there any specific experiences or classes that shaped your passion for genetics?

My interest in science was sparked from a very young age. I am a very curious person and I loved hands-on learning experiences such as science experiments. When I took my first genetics class at university, I discovered an interest in the intricacies of what sets us apart from each other. The Introduction to Human Genetics course not only deepened my understanding but also further shaped my passion for genetic diseases and exploring potential their treatments.

2. Have you faced any obstacles or unique experiences as an undergraduate student in this field? How have you navigated them?

Like many others, I faced challenges attending university online. Commencing my undergraduate journey virtually proved to be especially difficult, as I struggled to adjust to the new experience without the resources that wouldve been readily available in person. Upon transitioning back to in-person classes, I felt behind in both knowledge and experience. Fortunately, relying on my close circle for support proved helpful in navigating the new spaces. I highly recommend seeking guidance from professors or advisors, as I found their support to be incredibly beneficial.

3. How do you think the department, faculty or university could help remove these barriers and provide support?

The university has a lot of great resources; however, it may be challenging to navigate, especially for new students. I believe it wouldve helped me a lot if key resources were pointed out to me when I first started. It was always great to see them highlighted on UM Learn or incorporated into lecture slides. Additionally, I think it would be nice if your department or faculty suggested some student groups or other relevant student accounts you should stay up to date with. This could alleviate feelings of isolation and foster connections with other students in your program.

4. You are the VP for social media and marketing for the UMSU Womens Centre and on the social media team for Black Student Empowerment Society. How do you actively contribute to fostering equity, diversity and inclusion within these roles?

In my role as UMSU Womens Rep, I advocate and promote gender equity and inclusivity on campus through various initiatives. The Womens Centre plan and host events that celebrate womens achievements and contributions. We often collaborate with other student groups to create intersectional events that address the diverse experiences of women. We raise awareness about gendered based issues through campaigns and discussion sessions. On the black empowerment society, the social media team aims to use our platforms to highlight the diverse narratives of our community. We share resources and events that promote understanding and appreciation of diverse Black cultures.

5. How do your studies intersect with and complement your advocacy and leadership roles?

While advancing in my studies, Ive noticed that theres a lack of representation of Black Women within the field of genetics. Promoting diversity and inclusion goes beyond my official roles, my passion for advocacy extends into the science community as well. I believe that representation of individuals from diverse backgrounds in both health care and research ensures that studies do not overlook marginalized communities.

Kimia Shadkami

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UM Today | Faculty of Science | The intersection of genetics and advocacy - UM Today

Genetics

Genome-wide association study identifies human genetic variants associated with fatal outcome from Lassa fever – Nature.com

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Genome-wide association study identifies human genetic variants associated with fatal outcome from Lassa fever - Nature.com

Genetics

Secrets of human genetics could optimize medical care – Earth.com

In a study that bridges human evolution and modern medicine, researchers have shed light on the genetic marvels of adaptation among high-altitude populations. The research may ultimately pave the way for innovative approaches in treating respiratory diseases.

The study was led by Dr. Tatum Simonson, founder and co-director of the Center for Physiological Genomics of Low Oxygen at the University of California School of Medicine.

In Dr. Simonsons lab at UC San Diego, her team set out to investigate whether there may be a genetic explanation for why some people with sleep apnea or pulmonary diseases such as chronic obstructive pulmonary disease (COPD) fare better than others.

There are people with COPD who breathe a lot and maintain a higher oxygen saturation. Others with the same disease dont breathe as much, and their oxygen saturation is low, said Dr. Simonson.

Researchers suspect there may be genetic differences underlying this variation, similar to the variation we find in pathways important for oxygen sensing and responses underlying natural selection at high altitude.

The research is centered around the discovery of a genetic variant that is prevalent among certain Andean populations. These individuals possess an extraordinary ability to thrive in the oxygen-scarce environments of high altitudes.

The genetic variant, associated with a lower red blood cell count, stands as a testament to human adaptability, revealing how specific populations have evolved to evade the potentially lethal condition known as excessive erythrocytosis (EE). This condition characterized by an overproduction of red blood cells poses significant risks, including increased blood viscosity that can lead to stroke or heart failure.

The researchers analyzed the regulation of the EPAS1 gene, which is instrumental in managing hemoglobin concentrations and the bodys response to low oxygen levels.

The EPAS1 gene is critical for the survival of mountain-dwelling Tibetans against the adverse effects of high altitudes. It has been inherited from ancestors who intermingled with archaic human populations tens of thousands of years ago.

The team has now identified a distinct mutation within the EPAS1 gene that is exclusive to Andeans. By analyzing Andean genomes, the researchers found that the genetic change which alters only a single amino acid in the protein product happened by chance about 9,000 to 13,000 years ago and spread very quickly through hundreds of generations within the Andean population.

Similar to Tibetans, the EPAS1 gene is associated with lower red blood cell count in Andeans. However, it works in a completely different way. The Andean variant alters the proteins genetic makeup rather than its expression levels.

Tibetans have, in general, an average lower hemoglobin concentration, and their physiology deals with low oxygen in a way that doesnt increase their red blood cells to excessively high levels. Now we have the first signs of evidence that Andeans are also going down that path, involving the same gene, but with a protein-coding change. Evolution has worked in these two populations, on the same gene, but in different ways, said Dr. Simonson.

This discovery not only underscores the diverse evolutionary strategies employed by humans to adapt to extreme environments but also highlights the potential for these genetic insights to inform medical practices. By understanding the mechanisms through which these adaptations occur.

This paper shows one gene associated with one particular phenotype, but we think there are many different genes and components of oxygen transport involved, said Dr. Simonson. Its just one piece of that puzzle, and could provide researchers with information relevant to other populations.

In precision medicine, its important to recognize variation in genetic backgrounds, specifically in historically understudied populations.

If we can find some shared genetic factors in populations in an extreme environment, that may help us understand aspects of health and disease in that group and groups more locally. In that way, this study aims to push research forward, and towards comprehensive personalized medicine approaches in clinics here in San Diego.

The study is published in the journal Science Advances.

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Genetics

Significance of genetic mutations in toxic tort cases – Rhode Island Lawyers Weekly

The primary question in many toxic tort cases is what caused the disease? When defending these cases, one necessarily asks: (1) is the product/substance I am defending capable of causing the disease in question; and (2) was the plaintiff exposed to enough of it to have done so.

With cases involving cancer, particularly mesothelioma, genetic science is adding to the mix and providing information that, in the right case, changes the equation entirely.

Generally, cancer is a genetic disease caused by gene mutations that control how cells grow and multiply (NIH The Genetics of Cancer, 2022). While cells are the bodys building blocks, genes are sections of DNA in each cell that provide instructions to make required proteins and control cell growth. Hundreds of DNA and genetic changes (variants, mutations or alterations) have been discovered that help cancer form, grow and spread.

My experience with these issues arises from the defense of asbestos cases. The principles raised, however, may well apply to other toxic torts involving cancer.

It is now recognized that there are multiple causes for malignant mesothelioma, a number of which are unrelated to asbestos. Diffuse malignant mesotheliomas are variably associated with prior asbestos exposure, and the strength of the association varies with anatomical tumor site, gender and asbestos fiber type.

The relationship between asbestos and mesothelioma has also evolved and shows significant geographic variation. The epidemiological evidence correlating time trends, incidence by gender, and commercial asbestos use indicates that a majority of pleural mesotheliomas in women, and almost all peritoneal mesotheliomas in women and men, in the United States, appear unrelated to asbestos.

If not asbestos, then what was the cause?

In July 2019, many of the worlds foremost experts on the subject detailed the current state-of-the-art knowledge on the development of mesothelioma. See Carbone, et al., Mesothelioma: Scientific Clues for Prevention, Diagnosis, and Therapy, CA Cancer J Clin., 69:402-429 (2019).

Among the co-authors of the publication were preeminent researchers and practitioners from the University of Hawaii Cancer Center, Memorial Sloan Kettering Cancer Center, Rutgers Robert Wood Johnson Medical School, Brigham and Womens Hospital, Mayo Clinic, Icahn School of Medicine at Mount Sinai, and MD Anderson Cancer Center. Under a section of the publication entitled The Role of Genetics, the authors state:

Cancer is caused by the accumulation of genetic damage. Genetic damage can be inherited, can develop spontaneously, can be caused by exposure to carcinogens and oncogenic infectious agents, or can be caused by the interplay of a combination of these factors. Currently, there is a very active debate about the relative contribution of these factors to human cancer . [A] growing percentage of cancers are attributed to inherited mutations of DNA repair genes and of other genes that, when mutated, accelerate the accumulation of DNA damage and/or the percentage of cells carrying DNA damage . These concepts apply to mesothelioma.

In broad strokes, there are two types of genetic cases: (1) cases involving somatic or random genetic mutations; and (2) cases involving a germline genetic mutation.

Somatic random mutations develop because of DNA changes that occur during stem cell divisions. These mutations arise naturally and accumulate as a person ages. Age is a significant risk factor for almost all forms of cancer, including spontaneous or naturally occurring mesothelioma.

The basis for age-induced tumorigenesis relates to the hosts generation of critical driver mutations within cells and the subsequent formation of clonally expanded proliferation of mutated cells to form tumors. Stem cell division occurs continuously and requires a faithful replication of the highly complex genetic information contained within the genome and cell nucleus.

Random mistakes or mutations (replication errors) occur continuously and with increasing frequency over time, with the capacity of the host to efficiently identify and correct such mutations diminishing with age.

Because mutation accumulation occurs spontaneously and continuously over time, the risk of spontaneous or naturally occurring mesothelioma, either pleural or peritoneal, increases continuously with age.

Random mutations account for two-thirds of the risk of getting many types of cancer. In such cases, no exposure to an exogenous agent (such as asbestos or therapeutic radiation) is required for tumor initiation. Replicative mutations can be responsible for either initiating the process or driving tumor progression.

The current best available scientific evidence is that some mesotheliomas are linked to inherited germline mutations. Overall, at least 12 percent of mesotheliomas occur in carriers of germline genetic mutations. These germline genetic-induced mesotheliomas typically occur in persons of younger age and are often peritoneal rather than pleural mesotheliomas.

As the cohorts of asbestos workers vanish due to old age, increasing percentages of mesotheliomas, especially peritoneal mesotheliomas, occur in individuals who are not occupationally exposed to asbestos. These mesotheliomas may be caused by environmental exposure, genetic predisposition or both.

When examining a toxic tort/cancer case, it may not always be the environment or the toxin that is the culprit. If a plaintiff has an appropriate family history of cancer, genetic testing may provide a viable defense. Anthony J. Sbarra, Segal McCambridge

Pathogenic germline mutations of BAP1 and, less frequently, of other tumor suppressor genes have also been detected in approximately 12 percent of patients. This subgroup of genetically linked mesotheliomas occurs in younger individuals who rarely report asbestos exposure, and with a M:F ratio of 1:1 and survival ranging from five to 10 or more years.

While heritable gene mutations can predispose an individual to cancer (i.e., lower the amount of exposure necessary to cause disease), they can also be sufficient to cause cancers, including mesothelioma, in and of themselves.

Put another way, the presence of a heritable germline mutation, absent or independent of extrinsic factors such as asbestos exposure, can be a cause of mesothelioma.

While the import of these findings may be largely self-evident, there are some takeaways worth considering. First, when examining a toxic tort/cancer case, it may not always be the environment or the toxin that is the culprit. If a plaintiff has an appropriate family history of cancer, genetic testing may provide a viable defense.

Second, genetic germline mutations do not automatically turn a plaintiff into an eggshell plaintiff. While that argument may work in some cases, given that the mutation can be independently causative, it should not apply in all of them.

Anthony J. Sbarra is a shareholder at Segal McCambridge in Boston and focuses his practice on product liability and toxic tort cases. He can be contacted at [emailprotected].

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Significance of genetic mutations in toxic tort cases - Rhode Island Lawyers Weekly

Genetics

The Role of Genetics and Maternal Factors in Retinopathy of Prematurity: A Comparative Study – Medriva

Retinopathy of Prematurity (ROP) is a significant cause of childhood blindness globally and its incidence is on the rise. Understanding the underpinnings of this disease can help us identify potential interventions for ROP. A recent study conducted in Argentina evaluated genetic variants associated with the risk of ROP in premature newborns and compared them with data from other populations. This article will delve into the findings of this study and explore the role of maternal risk factors and genetics in the development of ROP.

The sample for this study included 437 premature infants, of which 75 had ROP and 362 did not. The study aimed to identify maternal risk factors for ROP and analyzed perinatal outcomes. The genetic analysis of these infants involved 14 single nucleotide polymorphisms (SNPs) using a family-based association study approach. The study did not apply the Bonferroni correction test due to its exploratory nature. The researchers also analyzed comorbidities in ROP newborns by creating a network graph to represent associations between events.

Genetic factors play a crucial role in the risk of developing ROP. One of the genes that has been associated with ROP is the methylenetetrahydrofolate reductase (MTHFR) gene. This gene has several isoforms and plays a role in various pathways and interactions. Understanding the variants of this gene can help identify infants at risk of developing ROP.

Along with genetic factors, maternal factors also contribute significantly to the risk of ROP. Identifying these risk factors can help in early intervention and prevention of ROP. The study identified several maternal risk factors including preterm birth, low birth weight, and prenatal complications among others. Understanding these factors can help in developing strategies to reduce the risk of ROP.

Recent research has highlighted the potential of adenosine A2A receptors (A2AR) as a target for early intervention of ROP. A2AR plays a pivotal role in ROP and pharmacological targeting of A2AR signaling may provide an early intervention strategy with distinct therapeutic benefits and mechanisms than the anti-VEGF therapy. Further research is necessary to validate the potential of A2AR in ROP intervention.

This study emphasizes the importance of genetic and maternal factors in the development of ROP. Understanding these factors and their interplay can pave the way for early interventions and better management of ROP. In addition, the potential of A2AR in ROP intervention needs to be further explored. As we continue to expand our knowledge about ROP, we can hope to reduce the incidence of this disease and improve outcomes for premature infants.

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The Role of Genetics and Maternal Factors in Retinopathy of Prematurity: A Comparative Study - Medriva

Genetics

‘The Idea That Who You Are Is Only Genetics Is the Essence of Evil’ – Books – Haaretz

News Life and Culture Columnists and Opinion Haaretz Hebrew and TheMarker Partnerships

Haaretz.com, the online English edition of Haaretz Newspaper in Israel, gives you breaking news, analyses and opinions about Israel, the Middle East and the Jewish World. Haaretz Daily Newspaper Ltd. All Rights Reserved

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'The Idea That Who You Are Is Only Genetics Is the Essence of Evil' - Books - Haaretz

Genetics

IPK researchers provide genetic explanations for shade-induced biomass allocation in wheat – EurekAlert

image:

The IPK research team asked how biomass allocation to wheat organs changes under canopy shade and what is the genetic basis for such changes.

Credit: IPK Leibniz Institute

Recent studies have shown a strong correlation between responses to plant density and to low light, indicating that the scarcity of light is often a limiting factor in high-density crop communities. Practices such as tillage, fertilizing the soil, and regulating the water supply can reduce competition for water and nutrients, but they amplify competition for light. These observations suggest that studying the genetic basis of plant responses to changes in the intensity and spectrum of light due to competition from neighbouring plants will advance our understanding of adaptation to the crop environment, says Dr. Guy Golan, first author of the study.

Therefore, the research team applied a new approach that combines principles from plant ecology and quantitative genetics for dissecting light-dependent and size-dependent allocation and identifying genes that regulate allocation to the leaves, stem, spikes, and grains when plants are shaded by neighbours.

One stimulating example comes from the known 'Green Revolution' gene Reduced Height-B1, which has two gene forms. On the one hand, the wild version leads plants to put a lot of their resources into growing tall stems. When these plants sense they are in the shade, they grow even taller to compete for more sunlight. On the other hand, plants with the 'Green Revolution' mutation allocate more resources to the spike, especially in shady conditions, making them more adaptable to low light.

However, allocation to the spike is also size dependent. When the conditions are conducive for growth, the short, semi-dwarf plants allocate significantly more resources to the spike than the tall varieties. Under low resources, when the plants are small, this advantage significantly decreases. This finding helps us understand the results from previous studies which showed that these shorter plants don't always do better than taller ones during droughts when the plants are small, says Dr. Guy Golan.

Our approach provides a basis for exploring the genetic determinants underlying investment strategies in the face of different resource constraints, and will be useful in predicting social behaviours of individuals in a crop community, says Prof. Dr. Thorsten Schnurbusch, head of IPKs research group Plant Architecture.

Agroecological genetics of biomass allocation in wheat uncovers genotype interactions with canopy shade and plant size

8-Feb-2024

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IPK researchers provide genetic explanations for shade-induced biomass allocation in wheat - EurekAlert