Category Archives: Genetics

Genetics

From plant genetics to fresh produce to be showcased in Berlin – FreshPlaza.com

BayWa Global Produce together with its international subsidiaries will be presenting its international activities from plant genetics to fresh produce in Berlin. By investing in the operational infrastructure of its entities over the past two years, the sector-specific portfolio manager has successfully increased its sorting, packing, storing, and ripening capacities and has improved process efficiency using state-of-the-art technologies for future-oriented growth.

Following a challenging year in 2023, Fruit Logistica is a great moment to look ahead and, together with our subsidiaries, pave the way for a successful year in 2024. Although the current political crises and economic environmental factors in various regions of the world continue to influence our business, we look positively into the future as challenges like these will both spur on change and offer new opportunities, says Benedikt Mangold, CEO at BayWa Global Produce.

Looking at the German apple business BayWa Obst, an improving market environment with promising consumption figures and a weaker market supply at stable prices provide a positive outlook for the rest of marketing season. In times of sharply rising production and wage costs, increased consumption at good price levels is an important development for both our farmers and for us, says Mangold.

After the severe weather event a year ago in New Zealand, we see good signs of recovery with a promising crop of Scifresh and Scilate apples, branded as JAZZTM and EnvyTM, growing on the trees. Our T&G team has done a remarkable job in cleaning-up and re-building our impacted orchards following Cyclone Gabrielle in Hawkes Bay, says Gareth Edgecombe, CEO of T&G Global. As a result of their hard work together with new plantings beginning to bear fruit and great weather over the summer, we look forward to increased export volumes this year - and this will continue to grow year-on-year into the future.

There are also positive developments in the exotics category. By investing in a new facility in Waddinxveen, TFC Holland has been able to further increase its attractiveness and efficiency, particularly by expanding its ripening capacities.

In late 2023, BayWa Global Produce also intensified its long-standing partnership with the Spanish fruit specialist Nufri. As part of a joint-venture based in Huelva, Spain, BayWa Global produce has taken the next big step towards verticalization and growth of its berry business. Pending approval by the European Commission, the partners will jointly be marketing the first blueberry volumes from their joint farm this spring while testing new varieties from T&G Globals VentureFruit business.

The company will have a joint stand in Hall 27 stand C-55.

For more information: BayWa Global Produce GmbH Tel.: +49 89 9222-0 Email: info@baywa-gp.com

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From plant genetics to fresh produce to be showcased in Berlin - FreshPlaza.com

Genetics

Adolescent Stress Alters Brain Genes, Affecting Adult Behavior – Neuroscience News

Summary: A new study reveals that excessive stress during adolescence can lead to long-lasting changes in gene expression in the brain, particularly those related to bioenergy functions.

This research indicates that such alterations may disrupt cell respiration and contribute to behavioral issues and psychiatric disorders in adulthood. Using a rat model, the study showed that stressed adolescent rats exhibited anxiety, reduced sociability, and cognitive impairments, linked to changes in genes controlling mitochondrial function in the prefrontal cortex.

These findings underscore the critical impact of adolescent stress on adult brain function and behavior.

Key Facts:

Source: FAPESP

Excessive stress during adolescence can cause alterations in the profile of genes expressed in the brain, especially those associated with bioenergy functions.

These alterations may affect cell respiration, resulting in behavioral problems and psychiatric disorders in adulthood, according to a study in rats conducted by researchers at the University of So Paulos Ribeiro Preto Medical School (FMRP-USP) in Brazil.

The results are reported in an articlepublishedin the journalTranslational Psychiatry.

It is no secret that many changes occur in our bodies and behavior during adolescence when the brain undergoes structural and functional alterations shaped both by neurobiological and social factors.

Like the human brain, the brain of an adolescent rat is highly plastic. This plasticity is seen at the molecular level and in terms of behavior. Changes in the expression profiles of specific genes in different brain regions lead to alterations in brain cell connectivity, which spread systemically and can produce persistent alterations in adulthood that correlate with psychiatric disorders, said Thamyris Santos-Silva, first author of the article. At the time of the study, she was a PhD candidate in pharmacology at FMRP-USP.

Adolescence is a critical period for brain plasticity, which is significantly influenced by social experience, addedFelipe Villela Gomes, last author of the article and a professor in FMRP-USPs Department of Pharmacology.

Susceptibility to adverse social and environmental factors, such as traumas, insults and abuse, increases during this period, and social experience can influence vulnerability and resilience to stress.

The prefrontal cortex is a brain region that is extremely susceptible to stress during adolescence. When it matures, it is crucial to enhanced cognitive control of emotions normally observed in adulthood. In rats subjected to stress during adolescence, this region displayed lower levels of expression of genes that play a key role in mitochondrial respiration.

Mitochondria are organelles found in most cells of both humans and rats, as well as many other living organisms. Through cell respiration, they are the main source of chemical energy for the functioning of neurons, one of the main types of brain cells. They therefore help regulate social behavior, including the response to stress.

The study, which wassupported by FAPESP, began by analyzing behavioral responses to stress, such as anxiety, social interaction and cognition, in late-adolescent rats. The animals were exposed to a stress protocol for ten consecutive days that coincided with an intense period of brain plasticity. They were then submitted to specific tests to assess their behavior, and the results showed distinct impairment in every case.

We found that stressed animals in this life stage displayed a markedly poor behavioral profile, with anxiety, reduced sociability and impaired cognitive function, Gomes said.

To discover whether these variations were reflected by gene expression, the researchers sent RNA samples to the Behavioral Genetics Laboratory of the Brain Mind Institute (BMI) at the Swiss Federal Institute of Technology in Lausanne (EPFL). The laboratory is led by Carmen Sandi, a professor of neuroscience.

To investigate gene expression in the rats brains, the laboratory sequenced messenger RNA and analyzed the results using bioinformatics tools. This part of the study was funded under a joint institutional internationalization program run by USP and CAPES, the Ministry of Educations Coordination for the Improvement of Higher Education Personnel (PrInt USP/CAPES).

The analysis showed alterations to the genes of the prefrontal cortex in the stressed animals. Among the ten most affected genes, several were associated with pathways linked to oxidative stress and mitochondrial function, a key cellular component of energy production for the brain, Gomes said.

Consumption of oxygen by mitochondria in the brains of these animals was also found to be impaired by stress.

We now have evidence of various kinds pointing to the importance of mitochondrial function in this behavioral profile, Gomes said.

Next steps

Next steps for the researchers will include investigating whether this behavioral profile can serve as a basis for predicting an individuals response to stress, and to what extent this actually does lead to the development of psychiatric disorders.

Another route to advance the study would be to focus on genetic alterations, conducting tests to find out what happens when gene expression diminishes or improves. This could provide more evidence regarding the links between stress and the alterations in question, and even point to ways to combat them, Gomes said.

Author: Heloisa Reinert Source: FAPESP Contact: Heloisa Reinert FAPESP Image: The image is credited to Neuroscience News

Original Research: Open access. Transcriptomic analysis reveals mitochondrial pathways associated with distinct adolescent behavioral phenotypes and stress response by Thamyris Santos-Silva et al. Translational Psychiatry

Abstract

Transcriptomic analysis reveals mitochondrial pathways associated with distinct adolescent behavioral phenotypes and stress response

Adolescent individuals exhibit great variability in cortical dynamics and behavioral outcomes. The developing adolescent brain is highly sensitive to social experiences and environmental insults, influencing how personality traits emerge.

A distinct pattern of mitochondrial gene expression in the prefrontal cortex (PFC) during adolescence underscores the essential role of mitochondria in brain maturation and the development of mental illnesses.

Mitochondrial features in certain brain regions account for behavioral differences in adulthood. However, it remains unclear whether distinct adolescent behavioral phenotypes and the behavioral consequences of early adolescent stress exposure in rats are accompanied by changes in PFC mitochondria-related genes and mitochondria respiratory chain capacity.

We performed a behavioral characterization during late adolescence (postnatal day, PND 4750), including nave animals and a group exposed to stress from PND 3140 (10 days of footshock and 3 restraint sessions) by z-normalized data from three behavioral domains: anxiety (lightdark box tests), sociability (social interaction test) and cognition (novel-object recognition test).

Employing principal component analysis, we identified three clusters: nave with higher-behavioral z-score (HBZ), nave with lower-behavioral z-score (LBZ), and stressed animals. Genome-wide transcriptional profiling unveiled differences in the expression of mitochondria-related genes in both nave LBZ and stressed animals compared to nave HBZ.

Genes encoding subunits of oxidative phosphorylation complexes were significantly down-regulated in both nave LBZ and stressed animals and positively correlated with behavioral z-score of phenotypes. Our network topology analysis of mitochondria-associated genes foundNdufa10andCox6a1genes as central identifiers for nave LBZ and stressed animals, respectively.

Through high-resolution respirometry analysis, we found that both nave LBZ and stressed animals exhibited a reduced prefrontal phosphorylation capacity and redox dysregulation.

Our findings identify an association between mitochondrial features and distinct adolescent behavioral phenotypes while also underscoring the detrimental functional consequences of adolescent stress on the PFC.

Originally posted here:
Adolescent Stress Alters Brain Genes, Affecting Adult Behavior - Neuroscience News

Genetics

Significance of genetic mutations in toxic tort cases – Massachusetts 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.

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:

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.

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.

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.

Continued here:
Significance of genetic mutations in toxic tort cases - Massachusetts Lawyers Weekly

Genetics

New genetic test in England aims to make blood transfusions safer – Sickle Cell Disease News

Englands National Health Service (NHS) is introducing a new genetic test that seeks to make it safer for people with sickle cell disease and other blood disorders to receive transfusions.

Thousands of people living with sickle cell disease and thalassaemia will be eligible for this new world-first blood test which is set to transform their care, Health Minister Andrea Leadsom said in a press release. This is a huge step forward in improving the quality of life for people who are living with these blood disorders.

The NHS said it is the first healthcare system in the world to offer this new test, and the agency is encouraging patients in England to get this test done alongside their routine blood tests.

The initiative will rely on patients attending hospital and having their blood sent to NHS Blood and Transplant for testing. We strongly encourage clinical and laboratory teams to work with patients to support this programme, said Sara Trompeter, MD, a consultant hematologist at NHS Blood and Transplant.

The NHS estimates there are about 17,000 people with sickle cell and 800 people with thalassemia living in England. Both disorders are caused by genetic mutations that cause abnormalities with hemoglobin the protein inside red blood cells that is responsible for oxygen transport.

People with these disorders frequently require blood transfusions, where healthy blood cells from a donor are infused into the body with the goal of easing anemia and other disease symptoms.

Transfusions continue to be crucial in the treatment of sickle cell disorder, said John James, chief executive of the Sickle Cell Society.

With the introduction of this innovative test, we take a remarkable stride towards achieving better blood matches for all those living with the condition, he said. We urge individuals with sickle cell disorder to have the blood test as it will not only support more accurate treatment but also hold the potential to save more lives in the future.

If Id had this test several years ago before my transfusion, I might not have antibodies now.

Although blood transfusions can be life-saving, finding a matching donor can be challenging. The problem is the bodys immune system is hardwired to assume anything that isnt part of the body is a hostile threat. If the immune system recognizes the donated blood cells as foreign, it will attack them, which can cause problematic side effects and reduce the efficacy of the transfusion.

Thats what happened to Ama Aryee, a 34-year-old science teacher living with sickle cell in Cheshunt in Hertfordshire. After receiving emergency blood transfusions for complications from pneumonia, Aryee developed antibodies against many common blood types. Now, if she needs a transfusion, there are only two to four units of blood in England that she can receive safely, according to the NHS.

The doctors and laboratory team find it very difficult to find matching blood for me, Aryee said. It is a worry to know that if there was an emergency and I needed blood it would not be straightforward to find enough. I try not to dwell on it but its there in my mind. Its a bit scary to think about future pregnancies or problems with sickle cell, I am well aware that theres almost no blood I can receive at the moment.

To prevent the immune system from attacking donated blood cells after a transfusion, transfused cells need to look similar enough to the patients own blood cells, so that the immune system wont recognize them as foreign. This has traditionally been done through a relatively crude analyses of large protein markers on the surface of blood cells (thats where the traditional blood-typing system of A, B, AB, and O comes from).

The new test is basically a more detailed version of this type of testing, using genetics to provide more precise matching of different blood cell markers that the immune system might recognize.

While blood matching for patients with inherited blood disorders, including sickle cell disease and transfusion-dependent thalassaemia is already done to a high standard, we can learn more and develop better blood matching further by using this exciting new world-leading test, said Ryan Mullally, MD, a consultant hematologist at Whittington Health NHS Trust. We are keen to raise awareness of it among patients and specialist medical and nursing teams involved in their care.

Aryee definitely supports people getting their blood groups tested.

If Id had this test several years ago before my transfusion, I might not have antibodies now, she said. And if this new testing could help people like me receive blood again that would be wonderful.

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New genetic test in England aims to make blood transfusions safer - Sickle Cell Disease News

Genetics

Unlocking tree genetic diversity: advanced hyperspectral phenotyping for enhanced Scots pine selection – EurekAlert

image:

Experimental and technical design.

Credit: Plant Phenomics

Hyperspectral reflectance reveals critical leaf functional traits indicativeof a plant's physiological status, providing a powerful tool for distinguishing seedlings adapted to specific environments. Current researchexplores intrapopulation variability and the necessity of high-throughput phenotyping (HTP) in forestry for selection of resilient genotypes underchanging climatic conditions. However, challenges persist in managing large-scale phenotypic data and in the compatibility of reflectance data acquired from various measurement approaches.

In November 2023, Plant Phenomicspublished a research article entitled by Making the Genotypic Variation Visible: Hyperspectral Phenotyping in Scots Pine Seedlings.

This research utilized two non-destructive methods to measure hyperspectral reflectance on 1,788 Scots pine seedlings, distinguishing between lowland and upland ecotypes from the Czech Republic. Leaflevel measurements wereperformedwith a spectroradiometer and contact probe (CP) for biconical reflectance factor (BCRF) of needle samples, while proximal canopy measurements employed the same spectroradiometer with a fiber optical cable (OC) under natural light for hemispherical conical reflectance factor (HCRF). Results showed statistically significant differences among pine populations across the entire spectral range. Using machine learning algorithms, the proximal data predicted the different Scots pine populations with up to 83% accuracy.

Specifically, BCRF and HCRF indicated significant differences in pairwise comparisons among populations, particularly in visible (VIS) and near-infrared (NIR) regions. The most pronounced differences occurred in VIS and red edge (RE) for BCRF, while HCRF showed more variance in shortwave infrared (SWIR) regions. Both BCRF and HCRF data maintained similar trends across the very shortwave infrared (VSWIR) spectral range, with BCRF P values generally closer to zero than HCRF in many spectral intervals. Random Forest (RF) and Support Vector Machine (SVM) algorithms were employed to test the prediction accuracy of population origin based on reflectance factors. The highest accuracy was obtained from raw whole seedling HCRF. The importance of specific spectral regions for RF separation was evidenced by peaks in VIS and RE. HCRF displayed more spectral regions with high importance for RF prediction compared to BCRF, which was mainly limited to VIS and RE. This difference likely contributed to the higher prediction accuracy of RF models based on HCRF data.

The study concluded that both leaf-level BCRF and whole seedling HCRF are suitable for hyperspectral phenotyping to differentiate the phenotypic and genetic variation within Scots pine seedlings. Overall, these methods offer valuable tools for forestry and breeding programs, particularly for non-destructive genetic evaluation and effective nursery practices. Despite some limitations related to light conditions and measurement methods, the research demonstrated the potential of using hyperspectral reflectance and machine learning for accurate prediction and classification of tree populations in breeding and conservation efforts.

###

References

Authors

Jan Stejskal1*, Jaroslav epl1, Eva Neuwirthov1,3,Olusegun Olaitan Akinyemi1,2, Ji Chuchlk1, Daniel Provaznk1, Markku Keinnen2,4, Petya Campbell5,6, Jana Albrechtov3, Milan Lstibrek1, and Zuzana Lhotkov3

Affiliations

1Department of Genetics and Physiology of Forest Trees, Faculty of Forestry and Wood Sciences, Czech University of Life Sciences Prague, Prague, Czech Republic.

2Department of Environmental and Biological Sciences, University of Eastern Finland, Joensuu, Finland.

3Department of Experimental Plant Biology, Charles University, Prague, Czech Republic.

4Center for Photonic Sciences, University of Eastern Finland, Joensuu, Finland.

5Department of Geography and Environmental Sciences, University of Maryland Baltimore County, Baltimore, MD, USA.

6Biospheric Sciences Laboratory, NASA Goddard Space Flight Center, Greenbelt, MD, USA.

About Jan Stejskal

He is a researcher in the Department of Genetics and Physiology of Forest Trees at Czech University of Life Sciences Prague. The domain of Dr. Jan Stejskal is the statistical evaluation of complex experiments with the connection of physiological and genetic data. His research includes the design and evaluation of comparative experiments based on growth and physiological traits. He currently focuses on evaluating adaptive traits of selected populations (fertility, phenology, etc.) to test the usability of genetic correlations between physiological, adaptive, and production traits.

Experimental study

Not applicable

Making the Genotypic Variation Visible: Hyperspectral Phenotyping in Scots Pine Seedlings

14-Nov-2023

The authors declare that they have no competing interests.

Disclaimer: AAAS and EurekAlert! are not responsible for the accuracy of news releases posted to EurekAlert! by contributing institutions or for the use of any information through the EurekAlert system.

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Unlocking tree genetic diversity: advanced hyperspectral phenotyping for enhanced Scots pine selection - EurekAlert

Genetics

The Role of Genetics in Cancer Care Continues to Expand – OncLive

Susan D. Klugman, MD, FACOG, FACMG

Genetic screening and testing have been a part of clinical practice for decades. However, it is only recently that genetics has become an integral part of cancer care.

The BRCA1/2 genes were discovered in 1994 and 1995, respectively, and many other cancer predisposition genes have been identified in more recent years. People with BRCA1/2 mutations are considered to have the most common hereditary cancer syndrome, called hereditary breast and ovarian cancer syndrome (HBOC).1 The National Comprehensive Cancer Network (NCCN) provides detailed recommendations regarding cancer surveillance and risk reduction for patients with HBOC. The impact on clinical care and management was initially unknown, but research and ongoing studies have provided guidance and NCCN guidelines are updated annually.2

Up to 10% of cancers arise in those who carry an inherited gene mutation.3 This is particularly important for Black patients, as research at our Montefiore Einstein Comprehensive Cancer Center found that not only are Black patients more likely than White patients to have a specific type of colorectal cancer that has worse outcomes, but they are also more likely to have tumors with more genetic mutations that preclude them from receiving certain therapies.4

In the 1970s, Montefiore Einstein was one of the first academic medical centers to offer population carrier screening for Tay-Sachs disease, an autosomal recessive neurologic genetic disorder that results in death in early childhood.5 In the late 1990s, we participated in the first BRCA1 and BRCA2 genetic testing of more than 1000 Ashkenazi Jewish women in the New York area, which led to a pivotal paper by Mary-Claire King, PhD, published in Science in 2003.6

Lifetime risk of breast cancer among female mutation carriers was 82%, and lifetime risk of ovarian cancer was 54% for BRCA1 and 23% for BRCA2 mutation carriers. Additionally, risk appeared to increase with time: Breast cancer risk by age 50 was 24% among mutation carriers born before 1940 and was 67% among women born after 1940. This was one of the first studies to show physical exercise and lack of obesity in adolescence was associated with delayed breast cancer onset.6

As the inheritance of most cancer predisposition genes is autosomal dominant, population screening is challenging and guidelines have evolved. Additionally, there are ethical, legal, and social implications of genetic testing, especially in diverse populations.

In 1987, during my gynecologic oncology rotation as a fourth-year medical student, I participated in the care of a 65-year-old woman with ovarian cancer. Fast forward 12 years, I am a practicing obstetrician- gynecologist and I see a patient who tells me her mother was diagnosed in 1987 with ovarian cancer and had surgery at the same hospital, and during the same month that I did my acting internship. We were able to ascertain that I took care of her mother in 1987!

We then discussed the importance of BRCA1/2 testing, which was not available to her mother at the time. Today, it is standard of care to test for hereditary cancer syndromes for any patient with a first- or second-degree relative with ovarian cancer. My patient, in fact, did have a mutation or pathogenic variant in BRCA1, likely inherited from her mother.

Over the past 20-plus years, my patient has had a bilateral mastectomy with reconstruction, a bilateral salpingo-oophorectomy, and has been involved in research looking for predisposition to pancreatic cancer. She has had annual dermatologic and ophthalmologic examinations and has never had cancer. She is considered a previvor, a patient with a pathogenic variant who has never had cancer. We have reviewed and discussed the research and the clinical management of BRCA over the past 2 decades together. We have also discussed the options of in vitro fertilization and preimplantation genetic testing of embryos for her children, which would avoid hereditary cancer caused by the familial variant in future generations. This patient has also been instrumental as a resource for other previvors in their decision-making regarding proactive medical and surgical options. She has told her story at community events and is willing to talk to community members who are struggling.

At Montefiore Einstein, genetic testing started in the Department of Obstetrics and Gynecology and Womens Health, where women with ovarian cancer were treated and those with breast cancer received their gynecologic care. We used grants and appealed to companies to cover testing for our patients.

Today, screening and testing occur within the Division of Reproductive and Medical Genetics. We see adults at risk for hereditary cancer syndromes as well as those with cancer and those without, such as their family members. Each patient meets with a genetic counselor and a medical geneticist to discuss their options. Pre- and posttest counseling are critical.

There is also a discussion about insurance and out-of-pocket costs, which today are considered minimal. Additionally, I review the Genetic Information Nondiscrimination Act of 2008 with patients, which does not protect their genetic information if they apply for life and long-term disability insurance. It is critical that this specialty is experienced as comprehensive clinical care. As such, our genetics program is also embedded in our new breast cancer center, which we designed to be a singular location for breast health, advancing our ability to deliver the most personalized care to our patients.

At Montefiore Einstein and across the country, 2013 was a pivotal year for genetic testing in cancer care. Angelina Jolie wrote an editorial in The New York Times discussing her BRCA1 status and revealed that she voluntarily had a prophylactic mastectomy. Genetic testing often has a stigma, and Jolie helped others realize that genetic testing was crucial, offering many benefits.7

Jolies family history was significant, and a pathogenic variant was found. However, a pathogenic variant was not found for many families that had significant breast and ovarian cancer, signaling there may be other genetic mutations not yet accounted for. In 2015, panel testing for hereditary cancer syndromes expanded to involve many genes, such as PALB2, CHEK2, and ATM, and others involved in Lynch syndrome; but again, these new tests were not always covered by insurance. Over the past 8 years, we have seen that many of these genes can be actionable clinically and because of this change in management and the possibility of improved health care outcomes, insurance coverage is almost always available.

Genetic testing is now an integral part of cancer care, partly due to the Precision Medicine Initiative launched by former President Barack Obama and the National Institutes of Health, which aims to understand how a persons genetics, environment, and lifestyle can help determine the best approach to prevent or treat disease. Despite these great strides, at the national level, we continue to see a significant number of individuals who should be offered genetic testing but never get it. Lack of knowledge about genetic testing among professionals and patients alike contribute to this trend. At Montefiore Einstein, members of our division are participating in seminars, grand rounds, and lectures to educate patient and physicians in hopes of overcoming the misconceptions and fears associated with genetic testing in our communities.

In 2017, we conducted a study at Montefiore Einstein that asked patients about their perceived cancer risk. We found that more than 30% of patients had a mother with breast cancer did not think that they were high risk. Moreover, more than 30% of patients deemed high risk were never offered genetic screening or testing from a health care professional. This is an issue I have witnessed in my practice.8

I recently saw a 36-year-old patient with colon cancer. The father of my patient had kidney cancer and the grandmother had uterine cancer, both at young ages. No one had discussed the possibility of a hereditary cancer syndrome with this patient.

Montefiore Einstein genetic counselors and genetic physicians help our patients understand the advantages of genetic testing and the clinical actionability. We have found that this team approach works very well. We also encourage patients to inform their family members for their own well-being and future generations; however, we sometimes find they are not available or willing.

We conduct germline genetic testing as well as somatic testing. The outcomes of both tests affect clinical management and recruitment for clinical trials. Research is ongoing to analyze the correlation of somatic testing with germline genetic testing.

We have a long way to go to educate our community, including patients and health care professionals, on the value of genetic consultation and testing when there is any family history of cancer.

The research we conduct where we practice in the Bronx and Westchester, New York, is critical for advancing literature and clinical practice because our population is incredibly diverse. Many people in our population are hesitant to undergo genetic testing as there is an underlying distrust likely stemming from historical events, which is why it is important for members of the medical community to advocate on behalf of their patients. Ongoing research regarding quality improvement initiatives for screening and prevention as well as adherence to guidelines recommended preventive care will help address these issues.

When Einstein clinicians went door-to-door testing for Tay-Sachs disease in the 1970s, they used the adage knowledge is power. We use that same adage today and hope that our cancer genetic testing helps save lives.

Susan D. Klugman, MD, FACOG, FACMG, is program director of Medical Genetics and Genomics, director of Reproductive and Medical Genetics, and professor of obstetrics and gynecology, women's health, and pediatrics at Montefiore Health System & Albert Einstein College of Medicine in Bronx, New York. She is also president of the American College of Medical Genetics and Genomics.

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The Role of Genetics in Cancer Care Continues to Expand - OncLive

Genetics

Family faces multiple diagnoses for genetic condition NF1 – Sanford Health News

Theres a genetic condition which can start with simple birthmarks that one Sioux Falls, South Dakota, family knows well.

Its called neurofibromatosis type one or NF1 and it is a disorder that can cause tumor growth, vision problems and skin changes.

Rachel Li, M.D., specializes in clinical and pediatric genetics at Sanford Childrens.

Find pediatric specialists: Family-focused care at Sanford Childrens

It can begin with the development of caf au lait spots, which are brown birth marks across the skin.

Dr. Li said tumors can grow underneath the skin and along nerves, including the optic nerve in the brain.

A majority of the time, the tumors are not cancerous, Dr. Li told Sanford Health News. But when were talking about brain tumors, theres only so much space in there so we monitor those very closely. And then we can start treatment with medications if we start noticing changes associated with that.

She said while all genetic disorders are rare, NF1 affects 1 in around 3,000 to 4,000 patients.

Fifty percent of the time its a new finding in a family or patient without family history, and the other 50% its inherited from a parent or relative, she added.

Candice Hazel and Roland Marshalls youngest, Logan, had some unique birthmarks which led to a diagnosis in 2022.

But that diagnosis was just the beginning.

When I met Roland, he had four girls, Hazel explained. One of the girls had a lot of caf au lait spots and he said she was diagnosed with neurofibromatosis.

Coincidentally, Hazel was already receiving care for McCune-Albright syndrome which is associated with caf au lait birthmarks.

So when she and Roland noticed her son Logans birthmarks, she contacted her provider at Sanford Health, and the entire family of seven underwent genetic testing.

The results showed Logan, his dad Roland, and two half-sisters were all living with NF1.

Those with NF1 can have variable features or different symptoms, even with the same genetic change.

Its been a whirlwind with a lot of emotion and worry, especially with the risk for tumors and optic issues. As a parent, its scary, Hazel said. Were very lucky to have someone close to home who specializes in NF1 and who makes you feel comfortable.

In most cases, a pediatrician or other primary care provider can notice the first signs of the condition in a patients birthmarks.

Dr. Li said the clinical criteria includes two or more features but patients are evaluated with just one, including certain freckling on the arms or in the groin.

From there, the primary care provider can refer the patient and family to the genetics team and begin testing.

But its not always caught right away when a patient is young.

Its not uncommon for us to find a patient with NF1 but then Mom or Dad also has it, and we determine during a visit that the adult gets certain screenings and plugged in for care as well, Dr. Li said.

If a patient undergoes testing or meets clinical criteria for a diagnosis, they can be enrolled into the NF1 clinic.

Since 2022, the neurocutaneous clinic has been available for Sanford Health patients as the only multidisciplinary clinic in the Midwest for this rare genetic diagnosis.

We noticed there was a gap in care for our patients, Dr. Li said. They were all going to Mayo or Colorado, hours and hours away. We had all the services here available. So, we got together and said, I think we can start this clinic.

Theres definitely a large population of people who are really benefiting from getting all the care.

The Marshall family was among the first to participate in the clinic.

Logan was seen every six months early on and now everyone is seen once per year, Hazel explained. Its really helpful and convenient for us to have one place for our kids to get their care.

The clinic for patients with NF1, NF2 and tuberous sclerosis is a one-stop-shop for patients to see multiple providers with specialties in genetics, neurology, hematology and oncology, pediatric development, ophthalmology, as well as speech, physical and occupational therapies.

Theyre such a great family as far as just really following through with what needs to be done, making sure theyre getting their girls plugged in as much as possible, getting help with some of the school things that theyve come up with and seeing Logan grow up living his best life now, Dr. Li said.

The physicians and providers are so collaborative, and I think thats a really unique thing to find. Everyone is here to focus on what is best for patient care and for children. If that means creating an entirely new clinic for families, thats something theyre going to go forward and do. Its been a huge, huge benefit.

Posted In Children's, Genetics, Sioux Falls, Specialty Care

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Family faces multiple diagnoses for genetic condition NF1 - Sanford Health News

Genetics

Unique gene variants tied to glaucoma found in Black patients – Livescience.com

Scientists have uncovered two gene variants tied to the most common form of glaucoma by studying the population most affected by the blinding disease: People of African ancestry.

Primary open-angle glaucoma (POAG) occurs when the structure that normally drains fluid from the eye doesn't work properly. As a result, fluid builds up and damages the optic nerve, gradually leading to vision loss and potentially blindness, in severe cases. People of African ancestry have around a four to five times greater risk of experiencing POAG than those of European descent. They're also more likely to develop severe vision problems from the disease, due in part to the condition manifesting at earlier ages, on average, than is seen in those with European ancestry.

Having a family history of glaucoma is a major risk factor for the disease, meaning genetics play an influential role. Previous studies pinpointed more than 170 hotspots in the genome that may fuel glaucoma but most of the people in those studies were of European or Asian descent.

In the new study, published Thursday (Jan. 18) in the journal Cell, researchers looked for glaucoma-related genes in the DNA of nearly 11,300 people of African descent, then confirmed the genetic risk factors in four other large datasets. To the researchers' knowledge, this is the largest study to date on the genetics of glaucoma in people of African ancestry, said senior study author Dr. Joan O'Brien, director of the Penn Medicine Center for Genetics of Complex Disease.

Related: Weird 'gut-eye axis' links the retina and intestines, and may help explain glaucoma

"It's a very important study," said Dr. Terri Young, chair of the Department of Ophthalmology and Visual Sciences at the University of Wisconsin-Madison, who was not involved in the research. The study was well-designed and generated robust data, she told Live Science.

It is also the first comprehensive look at a demographic that's commonly excluded from genetics research but is most affected by this hereditary disease.

"That really has not been done before," Young said. "These clinicians and the patients should really be applauded."

A large portion of the study participants were enrolled through a multiyear genetics study in the greater Philadelphia area. The researchers found that partnering with a trusted Black-owned radio station WURD Radio helped spur enrollment. Surveyed participants often reported initial reservations about participating, due to past and current racial discrimination in the medical field. But they said they were motivated to enroll in order to access glaucoma specialists and to help improve health outcomes for other members of their community.

The team combined data from these Philadelphia residents with that of Black people from other states, as well as Africans from Nigeria and Ghana. In all, this initial dataset included more than 6,000 people with glaucoma and about 5,270 people without, for comparison. The analysis turned up 46 regions of the genome linked to POAG.

The researchers then checked their results by looking at genetic data from thousands of additional people of African ancestry, as well as data from people of European or Asian descent. In these analyses, three gene variants popped up as being the most important for POAG in people of African ancestry.

"Two of those were entirely novel," meaning they'd never been linked to glaucoma before, O'Brien told Live Science.

The researchers ran some early experiments to start to unravel how these genes affect the eye's function or structure, but on that front, there's more work to do, Young said. Future work could probe the function of these genes in different tissues of the eye in lab dishes, as well as in animal models of glaucoma, she said.

The researchers also developed genetic "risk scores" intended to flag people with raised odds of developing glaucoma. They trained one risk score-generator on data from people of African ancestry and another on people of European ancestry compared with the latter, the former was much more accurate at predicting when a person of African descent had glaucoma.

In the future, risk scores like these could help pinpoint which patients need to initiate or adjust their monitoring or treatment plans for glaucoma, ensuring they get treated promptly if they do develop the disease, Young said. Better understanding the genetic profile of people with glaucoma could also lead to better, more-tailored treatments, she added.

POAG often leads to elevated pressure inside the eye, which can damage the optic nerve. Current treatments, such as eye drops and surgery, are aimed at relieving that pressure, but some people still lose their sight after starting treatment. Plus, some people with POAG have normal eye pressure but still lose vision.

"So pressure alone is our only treatment, but pressure alone is not sufficient to address the problems associated with this disease," O'Brien told Live Science. The new genetic study helps lay the groundwork for scientists to uncover new glaucoma treatments.

Editor's note: This article was updated at 1:30 p.m. on Jan. 18, 2024 to clarify a quote from Dr. Terri Young.

This article is for informational purposes only and is not meant to offer medical advice.

Ever wonder why some people build muscle more easily than others or why freckles come out in the sun? Send us your questions about how the human body works to community@livescience.com with the subject line "Health Desk Q," and you may see your question answered on the website!

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Unique gene variants tied to glaucoma found in Black patients - Livescience.com

Genetics

Myriad Genetics to Acquire Precise Tumor, Precise Liquid and Laboratory from Intermountain Precision Genomics – GlobeNewswire

SALT LAKE CITY, Jan. 18, 2024 (GLOBE NEWSWIRE) -- Myriad Genetics, Inc., (NASDAQ: MYGN), a leader in genetic testing and precision medicine, today announced it has entered into a definitive agreement to acquire select assets from Intermountain Precision Genomics (IPG) laboratory business, including the Precise Tumor Test, the Precise Liquid Test, and IPGs CLIA-certified laboratory in St. George, Utah where the Precise Tumor Test is currently performed.

The acquisition is expected to close on February 1, 2024, subject to customary closing conditions. By bringing the Precise Tumor and Precise Liquid tests in house, Myriad will open up new opportunities for innovation, growth, and continued development of its oncology portfolio.

With this acquisition, were deepening our commitment to our oncology business while also generating a more effective way to scale and grow our tumor profiling and liquid biopsy tests, including operational efficiencies, reimbursement benefits and new clinical development opportunities, said Paul J. Diaz, president and CEO, Myriad Genetics. Wed like to thank our longstanding partners at Intermountain Healthcare for the important progress theyve made in advancing precision oncology care. We look forward to continuing to build on this foundation to provide comprehensive genomic profiling options to the Intermountain Health System and its patients and providers that can help guide clinical care and improve patient outcomes.

Myriads Precise Tumor Test, which is also offered by IPG as TheraMap: Solid Tumor, analyzes a patients tumor DNA to discover and target important variants within tumors. The 500+ gene panel looks at both DNA and RNA to match patients with advanced solid tumors to the right therapy as well as identifying eligibility for clinical trials. Upon the closing of the acquisition on February 1, 2024, Myriad expects to operate TheraMap: Solid Tumor solely as Precise Tumor.

Precise Liquid, which is expected to launch later this year, will provide convenient comprehensive genomic profiling results from a blood draw. IPG has completed all validation studies to support the local coverage determination (LCD) for Precise Liquid and submitted clinical evidence of test performance in December 2023 for Medicare reimbursement.

The financial terms of the deal were not disclosed but are not material to either Myriad or Intermountain Healthcare.

About Myriad Genetics Myriad Genetics is a leading genetic testing and precision medicine company dedicated to advancing health and well-being for all. Myriad develops and offers genetic tests that help assess the risk of developing disease or disease progression and guide treatment decisions across medical specialties where genetic insights can significantly improve patient care and lower healthcare costs. For more information, visit http://www.myriad.com.

Safe Harbor Statement This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, including that the acquisition is expected to close on February 1, 2024, statements relating to the expected benefits of the acquisition, including that it will open up new opportunities for innovation, growth, and continued development of the company's oncology portfolio, that the company expects to operate TheraMap: Solid Tumor as Precise Tumor upon the closing of the acquisition, and that Precise Liquid is expected to launch later this year. These forward-looking statements are managements expectations of future events as of the date hereof and are subject to known and unknown risks and uncertainties that could cause actual results, conditions, and events to differ materially and adversely from those anticipated. Such risks and uncertainties include, but are not limited to, the risk that a condition to closing of the proposed transaction may not be satisfied; that either party may terminate the definitive agreement or that the closing of the proposed transaction may be delayed or not occur at all; potential adverse reactions or changes to business or employee relationships, including those resulting from the announcement or consummation of the proposed transaction; and such other risks described in the companys filings with the U.S. Securities and Exchange Commission, including the companys Annual Report on Form 10-K filed on March 1, 2023, as well as any updates to those risk factors filed from time to time in the companys Quarterly Reports on Form 10-Q or Current Reports on Form 8-K. Myriad is not under any obligation, and it expressly disclaims any obligation, to update or alter any forward-looking statements, whether as a result of new information, future events or otherwise except as required by law.

Investor Contact Matt Scalo (801) 584-3532 IR@myriad.com

Media Contact Glenn Farrell (385) 318-3718 PR@myriad.com

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Myriad Genetics to Acquire Precise Tumor, Precise Liquid and Laboratory from Intermountain Precision Genomics - GlobeNewswire

Genetics

Reflections on the Idea of Social and Behavioral Genetics – The Hastings Center

Basic research is ongoing into the genomics of complex human behaviors and social outcomes, from eating and sexual behaviors to subjective sense of well-being and educational attainment. Although the people doing this research may work hard to articulate their benevolent intentions as well as seeking to conduct rigorous, reproducible, ethical research, they do so against the history of pseudoscience, eugenics, and scientific racism. In this seminar, our expert panel will share insights regarding the potential risks and benefits of such research: Will investigations of associations between genetic differences and observed differences in behaviors and social outcomes exacerbateor help to underminegenetic determinism? How can behavioral and social genomics research community and the neurodiversity and disability justice movements learn from each other? Can the polygenic scores created by behavioral and social geneticists be of any real use to improve clinical or social science research? To what extent, if any, is behavioral and social genetics research relevant to discussions of using CRISPR to enhance moral and cognitive behavior? To explore these questions, we are delighted to be joined by:

If you are interested in joining, please send an email tooliver.feeney@uni-tuebingen.de

Moderated by: Dr Oliver Feeney, Ethics of Genome Editing Research Unit, Institute of Ethics and History of Medicine, University of Tbingen, Germany.

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Reflections on the Idea of Social and Behavioral Genetics - The Hastings Center