Daily Archives: May 9, 2021

A research team led by the Garvan Institute of Medical Research has mapped the unique genetic profile of the skeletons master regulator cells, known as osteocytes. Their study, published in the journal Nature Communications, outlines the genes that are switched on or off in osteocytes a type of bone cell that controls how other types of cells make or break down parts of the skeleton to maintain strong and healthy bones.

This new information provides a kind of genetic shortlist we can look to when diagnosing bone diseases that have a genetic component, said Garvans Dr Scott Youlten, first author on the study. Identifying this unique genetic pattern will also help us find new therapies for bone disease and better understand the impacts of current therapies on the skeleton.

The skeleton is a highly dynamic structure that changes shape and composition throughout a persons life. Osteocytes are the most abundant cell type in bone but have proved difficult to study because they are embedded within the hard mineral structure of the skeleton.

Inside the bone, osteocytes form a network similar in scale and complexity to the neurons in the brain (with over 23 trillion connections between 42 billion osteocytes) that monitors bone health and responds to ageing and damage by signalling other cells to build more bone or break down old bone. Diseases such as osteoporosis and rare genetic skeletal disorders arise from an imbalance in these processes.

To understand what genes are involved in controlling bone build-up or breakdown, the researchers isolated bone samples from different skeletal sites of experimental models to measure the average gene activity in osteocytes. Through this, they mapped a comprehensive osteocyte signature of 1239 genes that are switched on in osteocytes and that distinguish them from other cells. 77% of these genes have no previously known role in the skeleton and many were completely novel and only found in these critical cells.

Many of the genes we saw enriched in osteocytes are also found in neurons, which is interesting given these cells share similar physical characteristics and may suggest they are more closely related than we previously thought, said Dr Youlten.

A comparison of the osteocyte signature genes with human genetic association studies of osteoporosis identified new genes that may be associated with susceptibility to this common skeleton disease. Furthermore, many of these osteocyte genes were also shown to cause rare bone diseases.

Mapping the osteocyte transcriptome could help clinicians and researchers more easily establish whether a rare bone disease has a genetic cause, by looking through the shortlist of genes known to play an active role in controlling the skeleton, said Dr Youlten.

Co-senior author Professor Peter Croucher, Deputy Director of the Garvan Institute, said, The osteocyte transcriptome map gives researchers a picture of the whole landscape of genes that are switched on in osteocytes for the first time, rather than just a small glimpse.

The majority of genes that weve found to be active within osteocytes had no previously known role in bones, he said. This discovery will help us understand what controls the skeleton, which genes are important in rare and common skeletal diseases and help us identify new treatments that can stop development of bone disease and also restore lost bone.

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Mapping the genes that control the skeleton - Lab + Life Scientist

For most of human history people took it for granted that every form of life was a unique creation. In general this meant that each kind mated with its own kind to produce offspring. For our ancestors that was patently obvious. Lions did not mate with chimpanzees and so on. The differences between each plant and animal were seen as proof that a creator had been hard at work making all these different living creatures with a unique unchanging template for each. The differences were more than just superficial. Organisms were different down to the bone with no possibility of diverse species interbreeding. And once created the templates were set in stone with no changes possible. After all a powerful creator had willed it so. Perhaps it would have been better if that were really true.

But the reality is there was likely only one creation event. One can hypothesize about just who or what was the instigator of that event, but biology and genetics backed up by chemistry and paleontology tell us that all living organisms on Earth have a single common ancestor, a single celled creature with the ability to make copies of itself and its genetic code through the replication of DNA. This primordial process continues today in every living organism at the cellular level. Every living cell no matter from what living organism you might investigate including all plants and animals have the same engineered plan based on DNA. The difference is only the way the genetic material in each cell is arranged and the complexity. Also inherent in each cell is the potential to make subtle changes through mistakes in the replication process or outside influences. Almost all of those changes (mutations) are harmful or irrelevant but a very few give the organism a slight survival advantage providing the basis of biological evolution and species diversification.

The wonder isnt that all life on Earth has evolved from that ancient single cell ancestor, but that the single living cell evolved in the first place. The broad strokes of the panorama of species change are fairly well mapped out through Natural Selection and Variation Within Species. But although modern science can artificially construct the chemical building blocks of living creatures and we find those molecules occurring naturally even in the distant Cosmos, it cannot take those necessary chemical pieces and put them together to make a fully formed living cell. At least not yet.

The basic similarity of the structure of DNA and genetic codes of all living organisms has opened the door to the possibility of actually mating a lion and a chimpanzee at least at the test tube level. The technology known as gene-splicing or editing can exchange, replace, or remove genetic instructions between different unrelated life forms. As mentioned in previous columns, this is already happening to create hybrid organisms, especially for agricultural purposes. But there is no reason the same technology couldnt be used to combine and manipulate any genetic material from any organism.

Suppose a genetic instruction is discovered in the human genome that increases the risk of developing cancer, or deformities, or that might produce other deleterious effects. One could see if that bit of genetic material could be removed say from a female egg by gene editing how that might represent a positive breakthrough in medicine. We might also discover a genetic instruction in another animal that counters the aging process (the African mole rat and water bears come to mind) that could be grafted onto human DNA thus creating the same effect. Or finding the specific genetic instructions that allow some animals to grow back severed appendages and adapting those instructions to humans. Many other organisms have characteristics we might like to acquire and it is at least theoretically possible for us to do so through gene editing and splicing. Very recently human and chimpanzee DNA were successfully experimentally combined. Science has taught us that the ancient creation stories were way off the mark, but now we face a dilemma.

The question should be: How far down this road (or rabbit hole) do we want to go? In the ancient Egyptian religion many of their gods were part human and part animal. That was unquestioned truth to them, but mythology to us. (Ancient religions and folklore include dozens of human-animal hybrids, a subject for another article.) As it turns out, we now have the capability to turn that mythology back to truth, and should be mindful of the one undisputed law as we plunge down that road: That of unintended consequences.

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Science Voice: The common origin of life on Earth - Herald Review

The University of Maine will honor the achievements of the more than 2,000 UMaine students receiving degrees in 2021 with a virtual 218th Commencement presentation, highlighted by video of students in-person stage walks, congratulatory remarks by valedictorian Bailey West and a keynote by Dr. Edison Liu, president and CEO of The Jackson Laboratory.

Alumna Melissa Smith, chair and CEO of WEX in Portland, and Wayne Newell of Indian Township, a Passamaquoddy scholar and educator, will be awarded honorary degrees.

UMaine has 412 graduate students and 1,639 undergraduates receiving degrees in 2021. Following COVID-19 health and safety guidance, nearly 1,000 members of the Class of 2021 and Class of 2020 participated in commencement stage walks April 23May 3. Recordings of the livestreamed events over six days, which received a total of more than 12,400 views, will be part of the virtual presentation that will feature elements of UMaines traditional in-person commencement ceremony.

All graduates, including those unable to attend or who did not feel comfortable participating in the in-person stage walks, had the opportunity to submit images and photos to be included in the virtual presentation.

Music for the virtual commencement presentation has been provided by University of Maine Symphonic Band and Maine Steiners.

The virtual 218th Commencement presentation will be available in late May to ensure time for all video and photos to be submitted from the Classes of 2021 and 2020. Graduates will be notified of the time and date of the presentation, which will be available on the commencement website. The 218th Commencement program and a link to the Graduate Schools virtual hooding ceremonies also will be available on the website.

We are incredibly proud of the perseverance, tenacity and hard work that our seniors and graduate students demonstrated, particularly amid the challenges of the past three semesters, to successfully reach this point in their academic careers, says UMaine President Joan Ferrini-Mundy. This is a time to celebrate our graduates and the many people who have provided them support and encouragement.

Keynoting this years UMaine Commencement is Dr. Liu, who for nine years has led The Jackson Laboratory in Bar Harbor, an independent research institute focused on complex genetics and functional genomics with campuses in Maine, Connecticut and California. He also directs the National Cancer Institute-designated JAX Cancer Center. Dr. Liu is an international expert in cancer biology, systems genomics, human genetics, molecular epidemiology and translational medicine. His own scientific research has focused on the functional genomics of human cancers, particularly breast cancer, uncovering new oncogenes, and deciphering on a genomic scale the dynamics of gene regulation that modulate cancer biology.

Previously, he was the founding executive director of the Genome Institute of Singapore and the president of the Human Genome Organization and the scientific director of the National Cancer Institutes Division of Clinical Sciences in Bethesda, Maryland. Earlier in his career, Dr. Liu was a faculty member at the University of North Carolina at Chapel Hill, where he was the director of the UNC Lineberger Comprehensive Cancer Centers Specialized Program of Research Excellence in Breast Cancer; director of the Laboratory of Molecular Epidemiology at UNCs School of Public Health; and chief of medical genetics.

In addition to addresses from Dr. Liu and President Ferrini-Mundy, the virtual commencement presentation will feature congratulatory messages from other University of Maine System, UMaine and University of Maine Alumni Association leaders.

Among those being honored is 2021 Distinguished Maine Professor Hemant Pendse and this years Presidential Award winners.

UMaine valedictorian West of Stockton Springs, a biochemistry major and honors student, also is the Outstanding Graduating Student in the College of Natural Sciences, Forestry, and Agriculture. Drew Bennett of Brewer is the 2021 salutatorian. This year, UMaine named 13 Outstanding Graduating Students.

The honorary degree of Doctor of Humane Letters will be awarded to Smith, who received a UMaine bachelors degree in business administration with a major in accounting in 1991. As chair and CEO of WEX, a financial technology solutions provider that serves millions of companies worldwide, she leads the creation and execution of global strategy and development of talent and culture. Smith began her career at WEX as a senior financial analyst, and is the former CFO and president of the Americas.

Smith was the 2017 Mainebiz Business Leader of the Year and the 2012 Mainebiz Woman to Watch. In 2015, the Maine Womens Fund presented her with a Tribute to Women in Industry Award and, in 2013, the Girl Scouts of Maine presented her with a Women of Distinction Award. She is the co-founder of the Executive Womens Forum.

Newell, a member of the Passamaquoddy Nation, also will receive the honorary degree of Doctor of Humane Letters for his significant contributions to the Passamaquoddy people, the University of Maine, the state and the nation. Newell was the first Wabanki member of the UMS Board of Trustees and served on the National Advisory Council on Indian Education. The Department of the Interior designated him a national living treasure for his lifelong dedication of his talents to the preservation of the Passamaquoddy language and culture.

Newell, who has been legally blind since childhood, earned a masters degree from Harvard University, focused on linguistics. He worked in bilingual education in the Passamaquoddy Nation schools and authored The Passamaquoddy-Maliseet Dictionary: Peskotomuhkati-Wolastoqewi, a 1,200-page volume published by the University of Maine Press.

Contact: Margaret Nagle, nagle@maine.edu

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UMaine 2021 virtual commencement will honor two years of graduates - UMaine News - University of Maine - University of Maine

Are women born with a maternal instinct, or is it developed? Are motherhood practices passed down genetically, or are they learned? What really makes a mom?

Abigail Tuckers latest book, Mom Genes, takes a scientific approach to these questions, but leans into her own voice. While occasionally adopting the chirpiness of a mommy blog, as one Wall Street Journal reviewer noted, Tuckers extensive research and swift storytelling provide insights into what being a mom really means.

Tuckers professional credentials as a New York Times bestselling author and a celebrated science writer help her comb through mountains of data, experiments and medical lingo to describe the how of the maternal instinct. Her book tiptoes between readable science and memoir, as her experience raising four children (alongside her husband, New York Times columnist Ross Douthat) guide her ultimate conclusion that the arrival of a newborn is rebirth for the mother, too.

In some ways, that is quite literal. Tucker explains that fetal cells remain in the mother long after childbirth, even until her death a mothers heart or brain may contain these cells from her child. But the rewiring of a mothers brain has more recognizable effects. Becoming a mother, Tucker shows, changes a woman forever.

As the world continues to shift, supporting mothers is more essential than ever. Today is a vulnerable, volatile period of maternal metamorphosis, Tucker writes, replete with inequalities in health care, education and the workforce. And COVID-19 has only piled onto it 70% of moms work (and most full time), and they bore the brunt of pandemic job losses. Which makes Tuckers writing all the more timely. Now is the time to create more adaptable support systems, but, as Tucker contends, it begins with understanding mothers and how mom genes shape their world.

This interview has been edited for length and clarity.

Deseret News: Much of your book can be summed up by one line: What feels like a mothers change of heart is actually a change of brain. How did you discover that? And what does that really mean for mothers?

Abigail Tucker: Mothers often are distracted by the physical weirdness of pregnancy and all these bizarre changes that happen to our bodies. But the most profound changes are internal. I wasnt aware that there were labs that were trying to study exactly what happens inside of a person. Once I learned that, I had to go to the labs and even volunteer for a couple of experiments to learn a little bit more about what might be happening inside of us.

The conclusion that I came to is that scientists increasingly view motherhood as a stage of human development, like a period of neuroplasticity, where your brain is primed by the chemicals of gestation and childbirth and lactation to have this set of experiences. And youre going through a period of growth and change thats unseen in human experience, outside of childhood.

Mothers are literally being reborn, and they are growing and changing. Its not like you just discard your old self you can continue on your old path, but youre not the same.

DN: You frequently discuss the maternal instinct. But its much more than just an instinct, isnt it?

AT: When we say instinct, it sometimes implies that moms know what theyre doing, or that theres some set of automatic behaviors that we upload when we become mothers. And sadly, as a mother of four, I know thats not true. Mothers often dont know what to do at all.

Because humans are distributed around the world, theres this huge diversity of behaviors. But what unites us, and what I call the maternal instinct, is this common drive a sort of core pro-baby motive a sensitization to infant cues and a willingness to respond to them, and also this feeling of reward that you get from infants.

We all have this sort of common spark inside of us, and that is the maternal instinct. And its not really something that youre necessarily born with. Its something that develops through exposures.

DN: You studied many different animals mammals, insects, aves and found different parenting patterns among all. What findings were most interesting to you?

AT: I was stunned by the power of maternal behavior even in the simplest mammals, like rodents. Lab rats and lab mice are one of the primary vehicles scientists use to study the maternal brain and the idea that its conserved across species. So by learning about rats, were not just interested in rats. Were actually learning about ourselves.

For example, if you give a rat whos not a mother a choice between food and babies, shes always going to choose the food. But if you gave the mother the same choice, her reward system has changed, and she chooses babies. So I was struck by the kinship that we have with these super simple mammal mothers.

DN: I was fascinated by what you call social support you even call it love at one point. Tell me more about why thats so important for mothers.

AT: One of the dangers about talking about maternal instinct, and one of the things Im hoping to warn against, is this idea that when mothers become mothers, they feel this attraction to and love for their babies, and that theyre somehow on autopilot.

One of the interesting things about the study of how mothers are influenced by their social world is that moms continue to be very receptive to signals that they receive from their surroundings. Those could be environmental signals. It could be stress. Even exposure to plastics and other environmental toxins can change maternal behavior. But the signals that you get from the people in your community are also really important.

The good thing about maternal behavior is that we can, as humans, control our environment. We can take steps on a national level to safeguard maternal psychology, but then also on a personal level, just like reaching out to the moms in your world. If somebody has a new baby, and you drop off dinner for her, it shows that you actually care about her and that she matters that she has a place in the social world. So, I say, bring her five dinners.

DN: You bust one motherhood myth the idea that there are certain types of mothers and every mother is just one type. In fact, you write that youve been many mothers yourself. What does that mean?

AT: There are not that many strategic advantages to having four kids. But one of the interesting things is that Ive been able to compare and contrast over the course of these four children my own parenting.

The difference between having a boy and a girl is more than just buying blue stuff or pink stuff. Theres all kinds of physiological and mental fallout from that, like how moms who have sons are subject to a little more physical stress in pregnancy, and they may be slightly more prone to postpartum depression.

The variables at play things like maternal age, if you had a C-section or really painful delivery all of these different factors are part of the stew that is you. Youre not just one person whos just going to be carrying the mom flag. You are plastic and changing and if you are one mom for your first pregnancy, four pregnancies later you may be different, in a lot of ways.

DN: You dedicate your final chapter to a path forward for mothers including legislative solutions like paid maternal leave and child tax credit reform. With nearly two dozen congresswomen in Washington with young children at home, is there momentum for this?

AT: Mothers are very good at pushing, as we all know. I do think that having more women who are mothers in elected office is one of the best things we could possibly have for maternal reform.

And thats something I want to be clear about: When I say that mothers brains change and you transform, I dont mean that you have to throw away your ambition and not run for Congress or anything like that. I do think that when you make that sacrifice, and do these important jobs, I think you are changed in some way.

The perspective that motherhood brings, and especially enriched by the science of understanding why you work like you do, is one of the best tools that we could possibly have.

While there are women in Congress, other types of moms might need space and might need to make the choice to stay at home if they want. Theres no one way and no sole path and no right answer. This is not just some check it off the bucket list thing, this motherhood stuff. Im hoping that mom lawmakers will reflect on that.

DN: Your book came out at the perfect time, with Mothers Day this weekend. What Mothers Day message do you hope moms will glean from your writing?

AT: My message is that instinct is well and good. And these impulses that we have to care for our children are incredibly powerful and conserved across mammals. But humans are lucky in that we can use knowledge, research and self-knowledge to make sense of the straits that we find ourselves in, and to kind of be not just the best moms that we can be, but the best human beings that we can be.

Moms are always pitted against each other the stay-at-homes versus the work-out-of-homes versus the work-in-homes. And, you know, all these different philosophies, the cry-it-out people and the attachment parenting people, and the homeschoolers, and the boarding schoolers. People are at each others throats a lot. And Im just really hoping that the book will help show people that we all have potential to become a lot of different selves, and that should lead to a newfound empathy for each other. We should be looking for ways to help each other, rather than to nitpick and criticize and judge.

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Q&A: What the Mom Genes author wants you to know this Mothers Day - Deseret News

News Release

Wednesday, May 5, 2021

On World Asthma Day, the National Institutes of Health reaffirms its commitment to research to improve the lives of people with asthma. More than 25 million people in the United States have asthma, including 5.1 million children, according to the Centers for Disease Control and Prevention. This chronic lung disease can reduce quality of life, contributes to considerable emotional and financial stress, and is a major contributing factor to missed time from school and work. Severe asthma attacks can be life-threatening and may require emergency room visits and hospitalizations. Although asthma can affect anyone, some groups bear a disproportionate burden. For example, Black and Puerto Rican people are at higher risk of asthma than people of other races or ethnicities.

The National Institute of Allergy and Infectious Diseases (NIAID); the National Heart, Lung, and Blood Institute (NHLBI); and the National Institute of Environmental Health Sciences (NIEHS) are the lead NIH institutes that support and conduct asthma research. Among many other advances, these institutes recently released updated evidence-based guidelines for the diagnosis, management and treatment of asthma; helped better define the relationship between asthma and COVID-19; and improved understanding of the numerous factors that can influence asthma severity.

In December 2020, the NHLBI, with input from the National Asthma Education Prevention Program Coordinating Committee, announced the publication of updates to asthma management and treatment guidelines. The recommendations detailed in the 2020 Focused Updates to the Asthma Management Guidelines are designed to improve patient care and to support informed decision-making about clinical asthma management in six priority areas. These areas include use of inhaled corticosteroids, long-acting muscarinic antagonists, methods to reduce exposure to indoor allergen triggers, immunotherapy, fractional exhaled nitric oxide testing and bronchial thermoplasty.

As a respiratory disease, COVID-19 has created particular concern and uncertainty for people with asthma. While some evidence suggests that moderate-to-severe asthma might increase risk for severe illness from COVID-19, two independent, NIAID-supported studies suggest that people with allergic asthma are not at higher risk and identify a potential mechanism. These studies found that people with asthma and allergic diseases have reduced expression of the human gene encoding the receptor on airway cells that SARS-CoV-2, the virus that causes COVID-19, uses to enter and infect cells. Results anticipated from the NIAID-led Human Epidemiology and Response to SARS-CoV-2 (HEROS) study will clarify whether rates of SARS-CoV-2 infection differ between children who have asthma or other allergic conditions and children who do not.

In addition to respiratory infections, numerous environmental factors can influence asthma symptoms and severity. A NIEHS-funded study published last year was the first to link reduced emissions from coal-powered plants with asthma-related health benefits, including dramatic drops in asthma symptoms and hospitalizations. Another NIEHS-supported study found that children, especially boys, with elevated urine levels of bisphenol A (BPA)a chemical used in food packaging and other consumer goodshad more asthma symptoms. Additional research suggests that exposure to bisphenol F and bisphenol S, two chemicals increasingly used as BPA substitutes, is associated with asthma and hay fever.

The interplay between genetics and the environment also affects asthma susceptibility and severity. Two NIEHS studies helped clarify how an immune system protein called TLR5 may be involved in worsening asthma in response to environmental exposures. One study found that the lungs of people with a defective TLR5 generated much less inflammation after exposure to ozone than the lungs of healthy people. A companion study of people with asthma determined that participants who lacked a working TLR5 had fewer asthma symptoms upon exposure to house dust. NIAID-funded research provided additional insights into why some people develop asthma symptoms when exposed to household dust mites while others do not. In this study, scientists used cutting-edge genomics techniques to identify molecular features of T-cell subsets in people with asthma and allergy to dust mites.

The complexity of asthma and the broad range of factors that influence an individuals experience of the disease can pose challenges for managing the condition, suggesting the need for more personalized treatments. The NHLBI continues to support the Severe Asthma Research Program (SARP), a comprehensive study of adults and children with severe asthma, a debilitating form of the disease that often does not respond well to currently available medications. Findings from SARP informed the development of the NHLBIs Precision Interventions for Severe and/or Exacerbation-Prone Asthma (PrecISE) Network Study. PrecISE will evaluate several novel and approved treatments for asthma by targeting them to defined groups of adults and teenagers with severe, poorly controlled asthma who share similar characteristics, such as genetic factors or biomarkers. A recent NIAID-funded study identified immune system characteristics that distinguish subgroups of patients with severe asthma resistant to standard treatment, further helping to pave the way for individually tailored treatments.

NIH also remains dedicated to reducing the disproportionate burden of asthma among children living in low-income urban communities and certain minority populations. To extend the research performed previously by the NIAID-funded Inner City Asthma Consortium over several decades, NIAID recently funded a new clinical network initiative called Childhood Asthma in Urban Settings, or CAUSE. This program will investigate disease mechanisms and novel prevention and treatment strategies to mitigate the impact of asthma in disadvantaged child and adolescent populations. A recent NIH-funded study found new genetic variants linked to asthma severity in Puerto Rican children, who have high rates of asthma, that could lead to more targeted treatments in this group. The study includes genetic data from the NHLBIs TOPMed Program, which seeks to understand the genetic underpinnings of disease, including asthma.

As we reflect on the progress that has been made against asthma and the challenges that remain, NIH extends its gratitude to all who help make advances in care possiblefrom scientists and health care professionals to clinical research volunteers, advocates and educators. Together, we continue to advance our shared mission to develop and implement effective strategies for the management, treatment and prevention of this chronic lung disease.

About the National Institute of Allergy and Infectious Diseases (NIAID): NIAID conducts and supports research at NIH, throughout the United States, and worldwide to study the causes of infectious and immune-mediated diseases, and to develop better means of preventing, diagnosing and treating these illnesses. News releases, fact sheets and other NIAID-related materials are available on the NIAID website.

About the National Heart, Lung, and Blood Institute (NHLBI): NHLBI is the global leader in conducting and supporting research in heart, lung, and blood diseases and sleep disorders that advances scientific knowledge, improves public health, and saves lives. For more information, visit https://www.nhlbi.nih.gov.

About the National Institute of Environmental Health Sciences (NIEHS): NIEHS supports research to understand the effects of the environment on human health and is part of the National Institutes of Health. For more information on NIEHS or environmental health topics, visit https://www.niehs.nih.gov/ or subscribe to a news list.

About the National Institutes of Health (NIH):NIH, the nation's medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit http://www.nih.gov.

NIHTurning Discovery Into Health

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NIH Statement on World Asthma Day 2021 | National Institutes of Health - National Institutes of Health