Category Archives: Human Genetics

Twin Studies

Because identical twins have the same DNA, they are often used to help scientists understand which behaviors may be determined by genetics and which may be influenced by our environment. As exact copies of each other, sets of identical twins can be compared with other sets of identical twins to see how the environment affects their individual behaviors.

For example, scientists may compare identical twins that were separated at birth to identical twins that grew up in the same household. This allows them to examine how different environments influence the same genetic makeup. Other studies may compare identical twins that were raised together to fraternal twins, who, like normal siblings, only share about half of their DNA.

While there are no definitive answers, what these studies do generally show is that neither genetics nor the environment is more important than the other when it comes to some of the more complex behaviors. For example, genetic makeup accounts for about half of the variation we see in human personalities and intelligence. But this means that the other half of the variation we see in people comes from their environmental surroundings. So for some behaviors, both our genes and the environment play an equally important role.

It may be tempting to think that genetically influenced behaviors come from specific genes. However, just because a behavior has a genetic basis doesn't mean that there is a gene that 'controls' that trait. Genes don't actually control behaviors, they just facilitate certain reactions to our environment.

For example, many animals in nature are monogamous, which is a genetically influenced behavior. But there is no specific gene that causes monogamous behavior in these animals. Instead, certain genes produce proteins with receptors that respond positively to the scent of their mate. And it's this positive response that began with genetics and then is triggered by the environment that keeps the couple close to each other.

Humans have similar responses to other people; we like being around others for a reason! Human brains are genetically programmed to respond to social recognition and bonding with others. We are a very social species and we form complex relationships with friends and family. However, what we don't know much about is how our brains do this. Hormones and hormone receptors are major players, but the jury is still out on just how those mechanisms are involved in forming relationships and bonding with others.

One thing that separates us from other animals is how much longer it takes us to develop after we're born. We spend a very long time learning how to talk, walk, and interact with the world around us. During this time we are involved with many different people: our parents, siblings, and schoolmates, just to name a few. This allows us to be involved in a variety of complex social networks, which scientists think may have led to our unique success in the Animal Kingdom. As you can see, even from very early in life, both our environments and our genetics are important factors in determining how we behave.

Human behaviors are complex. Our social networks, personal interactions, and relationships are determined by both our genes and the world around us. Some behaviors may have a genetic basis, but genes do not actually control behavior. Rather, our genetic makeup influences how we interact with and respond to our surroundings.

While we do not fully understand the mechanisms behind human behaviors, we do have some insight into whether certain behaviors are influenced more by our genes or our environment. Twin studies are helpful for this because identical twins have the same DNA. Comparing sets of identical twins in different environments allows scientists to more closely examine how genetics and the environment shape us as individuals.

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Biological Influences on Human Behavior: Genetics & Environment

Fluent BioSciences showcasing breakthrough solutions to enable unprecedented scale, cost-efficiency and access for single-cell RNA sequencing at the 2022 American Society of Human Genetics (ASHG) conference  PR Newswire

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Fluent BioSciences showcasing breakthrough solutions to enable unprecedented scale, cost-efficiency and access for single-cell RNA sequencing at the...

Human behaviour genetics is an interdisciplinary subfield of behaviour genetics that studies the role of genetic and environmental influences on human behaviour. Classically, human behavioural geneticists have studied the inheritance of behavioural traits. The field was originally focused on determining the importance of genetic influences on human behaviour (for e.g., do genes regulate human behavioural attributes). It has evolved to address more complex questions such as: how important are genetic and/or environmental influences on various human behavioural traits; to what extent do the same genetic and/or environmental influences impact the overlap between human behavioural traits; how do genetic and/or environmental influences on behaviour change across development; and what environmental factors moderate the importance of genetic effects on human behaviour (gene-environment interaction).[1] The field is interdisciplinary, and draws from genetics, psychology, and statistics. Most recently, the field has moved into the area of statistical genetics, with many behavioural geneticists also involved in efforts to identify the specific genes involved in human behaviour, and to understand how the effects associated with these genes changes across time, and in conjunction with the environment.[2]

Traditionally, the human behavioural genetics were a psychology and phenotype based studies including intelligence, personality and grasping ability. During the years, the study developed beyond the classical traits of human behaviour and included more genetically associated traits like genetic disorders (such as fragile X syndrome, Alzheimer's disease and obesity). The traditional methods of behavioural-genetic analysis provide a quantitative evaluation of genetic and non-genetic influences on human behaviour. The family, twin and adoption studies marks the huge contribution for laying down the foundation for current molecular genetic studies to study human behaviour.[3]

In 1869, Francis Galton published the first empirical work in human behavioural genetics, Hereditary Genius. Here, Galton intended to demonstrate that "a man's natural abilities are derived by inheritance, under exactly the same limitations as are the form and physical features of the whole organic world." Like most seminal work, he overstated his conclusions. His was a family study on the inheritance of giftedness and talent. Galton was aware that resemblance among familial relatives can be a function of both shared inheritance and shared environments. Contemporary human behavioural quantitative genetics studies special populations such as twins and adoptees.

The initial impetus behind this research was to demonstrate that there were indeed genetic influences on human behaviour. In psychology, this phase lasted for the first half of the 20th century largely because of the overwhelming influence of behaviourism in the field. Later behavioural genetic research focused on quantitative methods.

In 1984, a research program named the Swedish Adoption/Twin Study of Aging (SATSA) was initiated in gerontological genetics. The research was executed on Twins Reared Apart (TRA) and Twins Reared Together (TRT). In this three-year interval study, the testing was carried out in two ways, Mail-Out Questionnaire and In-Person Testing (IPT). The IPT includes functional capacity, physical performance measurements, neurological state, general health, cardiovascular health, and cognitive abilities, all of which are particularly significant in ageing. The IPT had two major components for testing, Biomedical and Cognitive Assessment. The biomedical component was constructed to analyses the general health status like age changes, lungs function and capacity, physical strength. With this, the cognitive component was developed to represent and evaluate domains of crystallized and fluid intelligence and memory.

The data acquired from this study allowed researchers to assess genetic contributions to age changes and continuities throughout the length of the SATSA twins' later lives, which prolonged a decade and a half.[3]

Behavioural geneticists study both psychiatric and mental disorders, such as schizophrenia, bipolar disorder, and alcoholism, as well as behavioural and social characteristics, such as personality and social attitudes.

Recent trends in behavioural genetics have indicated an additional focus toward researching the inheritance of human characteristics typically studied in developmental psychology. For instance, a major focus in developmental psychology has been to characterize the influence of parenting styles on children. However, in most studies, genes are a confounding variable. Because children share half of their alleles with each parent, any observed effects of parenting styles could be effects of having many of the same alleles as a parent (e.g. harsh aggressive parenting styles have been found to correlate with similar aggressive child characteristics: is it the parenting or the genes?). Thus, behaviour genetics research is currently undertaking to distinguish the effects of the family environment from the effects of genes. This branch of behaviour genetics research is becoming more closely associated with mainstream developmental psychology and the sub-field of developmental psychopathology as it shifts its focus to the heritability of such factors as emotional self-control, attachment, social functioning, aggressiveness, etc.

Several academic bodies exist to support behaviour genetic research, including the International Behavioural and Neural Genetics Society, Behavior Genetics Association, the International Society of Psychiatric Genetics, and the International Society for Twin Studies. Behaviour genetic work features prominently in several more general societies, for instance the International Behavioral Neuroscience Society.

Human behavioural geneticists use several designs to answer questions about the nature and mechanisms of genetic influences on behaviour. All of these designs are unified by being based around human relationships which disentangle genetic and environmental relatedness.

The cornerstone of behavioural genetics approaches is quantitative genetics theories, which were formulated more than half a century ago by geneticists concerned with the practical challenges of increasing economically relevant characteristics of domestic plants and animals. These methods are used to study a myriad of traits, including intelligence and other cognitive abilities, personality traits like extraversion and emotionality, and psychiatric disorders such as schizophrenia and bipolar disease.[3]

To examine genetic and environmental impacts on complex human behavioural traits, researchers uses three classic methods: family, twin, and adoption studies. Individual variations within the normal range of variation, as well as the genesis of psychopathologies, are investigated using each of these techniques.

Genes and shared (or familial) environmental factors have a role in family resemblance. The majority of familial research on schizophrenia are concerned with relative risk. Despite the fact that the scope of diagnosis varies, the lifetime risk of schizophrenia in the general population is generally stated as 1%. Siblings of people with schizophrenia, on the other hand, constitute 13% of the population[which?]. The hazards for second- and third-degree relatives are lower, at 3% and 2%, respectively, as predicted. In a As a result, schizophrenia is certainly a familial trait.[3]

The basic understanding of behavioural genetics requires the separate study of effects of genes and environment influence on human behaviour. Such as, the genetic effects in a trait are discernible if pair of genetically identical (monozygotic twins) are much similar to one another than pair of genetically non-identical (dizygotic twin).

Twin and adoption studies describe the extent to which family resemblance is due to shared genes and the extent to which it is due to shared environments. Behavioral Scientist uses twin studies to examine hereditary and environmental influences on behavioural development.

For instance, some researchers also study adopted twins: the adoption study. The adoption design produces estimates of various genetic and environmental components of variance, similar to the twin design. Furthermore, the adoption design facilitates

(1) the identification of specific environmental influences that are unaffected by heredity (e.g., the effects of life stressors),

(2) the analysis of heredity's role in ostensibly environmental relationships, and

(3) the evaluation of genotype-environment interactions and correlations.[3]

In this case the adoption disentangles the genetic relatedness of the twins (either 50% or 100%) from their family environments. Likewise the classic twin study contrasts the differences between identical and fraternal twins within a family compared to differences observed between families. This core design can be extended: the so-called "extended twin study" which adds additional family members, increasing power and allowing new genetic and environmental relationships to be studied. Excellent examples of this model are the Virginia 20,000 and the QIMR twin studies.

Generally, if the observed behaviour and cognitive traits have a genetic component, then genetically similar relatives resemble to each other as comparative to individuals who share lesser component of genome. I n case of environmental influence, researchers study the two broad classes of effects in behavioural genetics such as shared environmental factors causing them to behave similarly and the other one is nonshared environmental factors causing them to behave different from one another. For example, siblings raised together in same environment will have more evident shared environment influences whereas in relative siblings raised apart from each other will have non-shared environmental influence. The understanding of the effects of genes and the influence of shared and nonshared environment on human behaviour provides a comprehensive data for genetic and environmental relatedness.[3]

Also possible are the "children of twins" design (holding maternal genetic contributions equal across children with paternal genetics and family environments) and the "virtual twins" design - unrelated children adopted into a family who are very close or identical in age to biological children or other adopted children in the family. While the classical twin study has been criticized they continue to be of high utility. There are several dozen major studies ongoing, in countries as diverse as the US, UK, Germany, France, the Netherlands, and Australia, and the method is used widely on phenotypes as diverse as dental caries, body mass index, ageing, substance abuse, sexuality, cognitive abilities, personality, values, and a wide range of psychiatric disorders. This is broad utility is reflected in several thousands of peer-review papers, and several dedicated societies and journals.

The approaches improve the capacity to specify and generalize results on the effects of genetic and environmental factors on characteristics and their evolution across time.

Quantitative trait locus (QTL) analysis is a statistical approach for attempting to explain the genetic basis of variation in complex characteristics by linking two types of data: phenotypic data (trait measurements) and genotypic data (typically molecular markers).

Researchers in disciplines as diverse as agriculture, biology, and medicine use QTL analysis to relate complicated traits to particular chromosomal regions. The purpose of this procedure is to determine the action, interaction, quantity, and type of action. The ability to disentangle the genetic component of complex characteristics has been enabled by QTL studies in model systems.

To research behavioural characteristics such as schizophrenia, bipolar disorder, alcoholism, and autism, large-scale national and international alliances have been constructed. Such partnerships will bring together enormous, consistently gathered samples, improving the likelihood of finding real susceptibility gene connections.[3]

The method is designed in collaboration of quantitative geneticists to enhance the capabilities to delineate between the genetic and environmental components of complex behavioural characteristics. Path analysis and structural equation modelling are two statistical approaches used in this methodology. The approach is used to see if genetic and environmental impacts can be employed in various populations. It would be useful to know how much of the total genetic varianceheritabilityis accounted for by a limited selection of potential loci in studies of emotional stability, for example.[3]

Link:
Human behaviour genetics - Wikipedia

Nucleome Therapeutics raises oversubscribed 37.5 millionSeries A financing to decode the dark matterof the human genomeanddeliverfirst-in-class precision medicines

Oxford, UK, 19October 2022 Nucleome Therapeutics Limited, (Nucleome or the Company), a biotechnology company decoding the dark matter of the human genome to discover first-in-class precision medicines, today announces it has closed an oversubscribed 37.5 million Series A financing round. The funds will be used to advance the Company's autoimmune disease programmes, fuel expansion of its dark genome atlas and further develop its pioneering platform.

The financing was led by new investor M Ventures, the strategic, corporate venture capital arm of Merck KGaA, with participation from Johnson and Johnson Innovation-JJDC, Inc. (JJDC), the strategic venture capital arm of Johnson & Johnson; Pfizer Ventures, the venture group of Pfizer; British Patient Capital, through its Future Fund: Breakthrough programme; and founding investor Oxford Science Enterprises.

Nucleome has the unique ability to discover and validate first-in-class targets through genetics, by investigating the dark region of the human genome, which does not encode for proteins but contains 90% of disease-associated genetic changes. Understanding the role of these genetic variants has been a long-standing challenge, hindering the translation of the human genome into useful drug discovery insights.

Nucleomes breakthrough platform combines pioneering 3D genome technology and machine learning to shed light on these variants by directly linking genes to diseases and mapping pathways with unprecedented precision for drug discovery.

We have already made significant progress by mapping genes to genetics in a number of human immune cell types and discovering the first wave of potential first-in-class autoimmune disease targets, said Dr Danuta Jeziorska, Chief Executive Officer and Co-founder of Nucleome Therapeutics. The completion of this oversubscribed round with such a high-calibre group of global life science investors is a recognition of the significance of Nucleomes platform and its potential to support the development of an exciting portfolio of first-in-class targets for autoimmune diseases.

Dr Bauke Anninga, Principal at M Ventures, commented: Nucleomes differentiated platform technology has the potential to fundamentally shift the way we discover and develop precision medicines. Unlocking the value of the largely unexplored territory of the genome can lead to the identification of high-value drug targets. Nucleomes platform adds 3D genomic information to a wealth of available genomic data, uncovering a new dimension of information that is disease as well as cell type-specific. We are excited to lead this financing, and alongside our co-investors, partner with Nucleomes exceptional team to advance their target and drug discovery programmes to bring transformative treatments to patients.

Dr Jonathan Hepple, Non-executive Director at Nucleome and Advisor to Oxford Science Enterprises, added: Since its founding in 2019, Nucleome has advanced to become a leader in 3D genomics analysis. Publications in high-impact journals have validated its groundbreaking technology and ability to identify new drug targets where other technologies fall short. With a highly experienced team, this fundraising, backed by an impressive syndicate of world-class investors, will allow Nucleome to explore the dark genome and develop its exciting pipeline of potential drug targets. Oxford Science Enterprises is proud to have supported the Company since its inception and continues to do so, and we look forward to working with the team through this exciting time of growth.

Ends

For more information, please contact:

Nucleome TherapeuticsDr Danuta Jeziorska, Chief Executive Officer & Foundercontact@nucleome.com

Consilium Strategic CommunicationsMary-Jane Elliott/Sukaina Virji/Stella LempidakiNucleome@consilium-comms.com

About Nucleome Therapeutics Nucleome Therapeutics is decoding the dark matter of the human genome to uncover novel ways to treat disease. The dark genome holds more than 90% of disease-linked genetic variants whose value remains untapped, representing a significant opportunity for drug discovery and development. The Company has the unique ability to link these variants to gene function and precisely map disease pathways. Nucleomes cell type-specific platform creates high resolution 3D genome structure maps and enables variant functional validation at scale in primary cell types, enabling the discovery and development of novel, better and safer drugs. The initial focus of the company is on lymphocytes and related autoimmune disease. Nucleomes ambition is to build a robust pipeline of drug assets, with corresponding biomarkers. Nucleome Therapeutics was founded by leading experts in gene regulation from the University of Oxford. For more information, please visit http://www.nucleome.com.

About M VenturesM Ventures is the strategic, corporate venture capital arm of Merck KGaA, Darmstadt, Germany. From its headquarters in the Netherlands and offices in Germany, USA and Israel, M Ventures invests globally in transformational ideas driven by innovative entrepreneurs. Taking an active role in its portfolio companies, M Ventures teams up with management teams and co-investors to translate scientific discoveries into commercial success. M Ventures focuses on identifying and financing novel solutions to some of the most difficult challenges, through company creation and equity investments in fields that will impact the vitality and sustainability of Merck KGaA, Darmstadt, Germany 's current and future businesses. For more information, visit http://www.m-ventures.com.

About Pfizer Ventures Pfizer Ventures, the venture capital arm of Pfizer Inc., was founded in 2004 and invests for return in areas of current or future strategic interest to Pfizer. Pfizer Ventures seeks to remain at the forefront of life science advances, looking to identify and invest in emerging companies that are developing transformative medicines and technologies that have the potential to enhance Pfizers pipeline and shape the future of our industry.

About British Patient Capital

British Patient Capital is the trading name of British Patient Capital Limited, a wholly-owned commercial subsidiary of British Business Bank plc, the UK governments economic development bank. It forms part of the British Business Banks plcs commercial arm. Its mission is to enable long-term investment in innovative firms led by ambitious entrepreneurs who want to build large scale businesses. Launched in June 2018, British Patient Capital has 2.5bn to invest over 10 years in venture and venture growth capital to support high growth potential innovative UK businesses in accessing the long-term financing they require to scale up. Find out more at britishpatientcapital.co.uk.

About Oxford Science Enterprises Oxford Science Enterprises (OSE) is an independent, billion-pound investment company, created in 2015 to found, fund and build transformational businesses via its unique partnership with the University of Oxford, the world's #1 research university.This partnership enables OSE to work with the brightest academic minds tackling the world's toughest challenges and guarantees unrivalled access to their scientific research.In collaboration with its global network of entrepreneurs and advisers, OSE shapes and nurtures complex ideas into successful businesses, while targeting attractive returns for shareholders.Actively focused on a core portfolio of around 40 companies spanning three high-growth, high-impact sectors Life Sciences, Health Tech, and Deep Tech the company adopts a flexible, long-term investment approach, recognising the path from ground-breaking research to global markets takes time and resilience.To date, OSE has invested 0.5 billion in over 80 ambitious companies built on Oxford science.A key player in Oxford's entrepreneurial ecosystem, OSE is highly motivated to foster an environment that catalyses pioneering research and steers it to commercial success.Find out more: oxfordscienceenterprises.com | Twitter | LinkedIn

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Nucleome Therapeutics raises oversubscribed 37.5 million Series A financing to decode the dark matter of the human genome and deliver first-in-class...

image:Katie Pollard is recognized by the National Academy of Medicine for discovering fast-evolving regions of the human genome and for creating open-source software used by scientists worldwide. view more

Credit: Photo: Michael Short/Gladstone Institutes

SAN FRANCISCO, CAData scientist and statistician Katie Pollard, PhD, director of the Gladstone Institute of Data Science and Biotechnology, has been elected to the National Academy of Medicine (NAM), one of the highest honors in health and medicine. Through its election process, the Academy recognizes individuals who have demonstrated outstanding professional achievement and commitment to service.

Pollard is perhaps best known for developing a novel statistical approach to identify human accelerated regions (HARs), which are stretches of DNA that rapidly changed when humans evolved from primate ancestors. Many of these regions of the human genome help determine when and where important genesincluding those associated with diseasesare turned on or off.

Pollard is also being recognized for the creation of statistical models and open-source bioinformatics software, which are used by researchers worldwide to investigate gene activity, genome evolution, and the microbiome (the collection of microbes found in the human gut).

As a statistician, I am honored that the National Academy of Medicine and my nominators value our contributionsand the contributions of data scientists more broadlyto biomedical research and medicine, says Pollard. I love coding and math, but what really motivates me is using these methods to understand how our bodies work and how they break in disease.

Pollard, who is also a professor in the Department of Epidemiology and Biostatistics at UC San Francisco and an investigator at the Chan Zuckerberg Biohub, entered graduate school at the University of California, Berkeley, interested in using math and statistics for public health applications. She was moving from classwork to research when the human genome was sequenced for the first time.

I immediately became interested in using the genome sequence to measure differences in gene activity between tissues and disease states, such as in tumors versus nearby healthy tissue, she recalls. I also wanted to develop statistical methods that could help me, and other researchers, get reliable results from the unprecedently large arrays of genomic data being produced.

Since then, Pollard and her lab have made critical contributions to several other research areas, including decoding how genomes work by using comparative genomics; creating statistical models, open-source bioinformatics software, and machine-learning frameworks to better understand the human genome; and developing analytical tools to study the human microbiome.

Driving Medical Research with Bioinformatic Approaches

As Pollard started her postdoctoral work, the chimpanzee genome was sequenced. Because she had studied anthropology (including primatology) as an undergraduate, she understood the importance and potential applications of the new information, and performed one of the first genome-wide comparisons of human and chimpanzee DNA. That work led to the discovery of HARs.

HARs are short pieces of DNA where chimpanzees and other non-human mammals have nearly identical sequences, she explains. But the human HARs are very different from the chimps, which makes HARs exciting candidates for understanding traits that are unique to humans, such as spoken language, HIV susceptibility, and psychiatric diseases.

After scientists had been trying to figure out the function of HARs for nearly a decade, Pollard and her team made a significant breakthrough by using an innovative approach inspired by the fields of bioinformatics, stem cell biology, and genomics.

They discovered that the vast majority of HARs are not genes, but rather enhancers that turn the activity of nearby genes up or down. They also found that many HARs control genes involved in brain development and in psychiatric diseases that are uniquely human, such as autism and schizophrenia.

In parallel, for the past 15 years, Pollards team has been developing new ways to analyze the hundreds of species of microbes that grow inside the human gut, which play many roles in health and disease.Their breakthroughs could lead to the development of therapies to maintain or improve gut health. They are also helping set the stage for using the microbiome in precision medicine.

To make these discoveries, we first had to create the right bioinformatics tools to tackle the questions we wanted to answer, says Pollard. We then applied our tools to massive analyses of terabytes of publicly available data, bringing together datasets that were not originally collected for the same purpose. And we used these datasets to ask new questions beyond what was analyzed in the original studies.

She helped create several computational methods to better analyze typical datasets, including an approach that allows researchers to carry out bigger and more precise analyses of the microbiome than ever before. Their approaches are also faster and cheaper than previous technologies, making them accessible to most labsnot only the ones that can afford high-performance computing power.

To Pollard, this is one of the most crucial aspects of technology development: creating tools that can be shared with, and used by, as many scientists and students as possible. Thats why shes such a strong advocate of open science, and a world leader in open-source bioinformatics software.

The machine-learning tools and statistical methods we develop can be used to study a wide range of diseases, says Pollard. Its important to me that they can be made available to anyone who needs them, so that we can open the door to important discoveries by researchers all around the world, across a variety of fields.

Expanding the Role of Data Science

Looking ahead, Pollard would like to help expand the role of data science in modern biomedical research. Rather than its current function of supporting the analysis of experimental research that has already been conducted, she would like to see data science setting the direction of experimentation and technology development.

What Im most excited about is using predictive models to drive experiments and the development of new tools and technologies, she says. Data scientists being in the drivers seat will also ensure that we are designing the experiments and machines that best address the questions we want to ask down the line.

Pollard earned her BA at Pomona College and her Masters degree and PhD in biostatistics from UC Berkeley. She is a Fellow of the American Institute for Medical and Biological Engineering, the California Academy of Sciences, and the International Society for Computational Biology. She is also a member of the American Society of Human Genetics and the American Statistical Association.

Pollards election was announced on October 17, 2022, by the NAM, which is part of the congressionally chartered National Academy of Sciencesa group of private, nonprofit institutions that provide objective advice on matters of science, technology, and health.

Pollard joins seven fellow NAM members from Gladstone Institutes: Jennifer Doudna, PhD, senior investigator; Warner Greene, MD, PhD, senior investigator; Robert W. Mahley, MD, PhD, senior investigator, president emeritus, and Gladstone founder; Lennart Mucke, MD, senior investigator and director of the Gladstone Institute of Neurological Disease; Deepak Srivastava, MD, senior investigator and president of Gladstone; R. Sanders Williams, MD, former Gladstone president; and Shinya Yamanaka, MD, PhD, senior investigator.

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Gladstone data scientist elected to the National Academy of Medicine - EurekAlert

Ocugen

Highlighting Ocugen research and innovative technologies

Featuring thought leaders in gene therapy and vaccines

MALVERN, Pa., Oct. 19, 2022 (GLOBE NEWSWIRE) -- Ocugen, Inc. (Ocugen or the Company) (NASDAQ: OCGN), a biotechnology company focused on discovering, developing, and commercializing novel gene and cell therapies and vaccines, today announced that it will host an in-person Research & Development (R&D) Day on Tuesday, November 1, 2022. The event will take place from 9 a.m.-noon ET at the Nasdaq Market Site in Times Square, New York City.

R&D Day will provide an opportunity to learn more about Ocugens innovations focused on improving public health and addressing unmet medical need. A scientific poster session will include a detailed look at Ocugens comprehensive pipeline. Two panel discussions will offer expert opinion on the current and future treatment landscape of vaccines and gene therapy.

Panelists include:

Neena B. Haider, PhD, Associate Professor, Schepens Eye Research Institute, Mass Eye and Ear, Department of Ophthalmology, Harvard Medical School

Mark Pennesi, MD, PhD, Professor of Ophthalmology, Oregon Health and Science University, and a member of Ocugens Retina Scientific Advisory Board

David Fajgenbaum, MD, MBA, MSc, Assistant Professor of Medicine, Translational Medicine & Human Genetics, University of Pennsylvania, and a member of Ocugens Vaccine Scientific Advisory Board

Eric Feigl-Ding, ScD, Chief of COVID Task Force, Co-founder of World Health Network, Faculty of Public Health- NECSI

Ocugens leadership will provide a business update, along with insight to how its programs in vaccines and gene and cell therapies contribute to its long-term corporate strategy.

Nasdaq requires advance registration from attendees and registration can be done here or by contacting Jon Nugent, jnugent@tiberend.com at Tiberend Strategic Advisors, Inc.

A replay will be available within 48 hours following the conclusion of the event via webcast on theeventspage of the Ocugeninvestor site.

Story continues

About Ocugen, Inc.Ocugen, Inc. is a biotechnology company focused on discovering, developing, and commercializing novel gene and cell therapies and vaccines that improve health and offer hope for patients across the globe. We are making an impact on patients lives through courageous innovationforging new scientific paths that harness our unique intellectual and human capital. Our breakthrough modifier gene therapy platform has the potential to treat multiple retinal diseases with a single product, and we are advancing research in infectious diseases to support public health and orthopedic diseases to address unmet medical needs. Discover more atwww.ocugen.comand follow us onTwitterandLinkedIn.

Cautionary Note on Forward-Looking StatementsThis press release contains forward-looking statements within the meaning of The Private Securities Litigation Reform Act of 1995, which are subject to risks and uncertainties. We may, in some cases, use terms such as predicts, believes, potential, proposed, continue, estimates, anticipates, expects, plans, intends, may, could, might, will, should, or other words that convey uncertainty of future events or outcomes to identify these forward-looking statements. Such statements are subject to numerous important factors, risks, and uncertainties that may cause actual events or results to differ materially from our current expectations. These and other risks and uncertainties are more fully described in our periodic filings with the Securities and Exchange Commission (SEC), including the risk factors described in the section entitled Risk Factors in the quarterly and annual reports that we file with the SEC. Any forward-looking statements that we make in this press release speak only as of the date of this press release. Except as required by law, we assume no obligation to update forward-looking statements contained in this press release whether as a result of new information, future events, or otherwise, after the date of this press release.

Contact:Tiffany HamiltonHead of CommunicationsIR@ocugen.com

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Ocugen to Host R&D Day in New York City on Tuesday, November 1, 2022 - Yahoo Finance

LAWRENCE, KANSAS A University of Kansas researcher is taking a novel approach to the prolific problem of opioid addiction in America. With a $2.3 million grant from the National Institute on Drug Abuse, Zijun Wangwill research the implications of the DNA break-and-repair process in opioid use disorder.

Wangs work is based on the premise that opioid addiction is a psychiatric disorder caused by molecular changes in the brain that alter behavior.

Drug addiction is not a moral failing, said Wang, assistant professor of pharmacology & toxicology. In terms of addiction, the reward pathway in the brain is hijacked by repeated drug exposure. Drug-induced structural changes result in many abnormal behaviors, including reduced inhibitory control that prevents someone from avoiding behaviors with negative consequences.

The human genome consists of more than 3 billion base pairs of DNA, which contain more than 20,000 genes. This genetic material is used in complex biochemical processes in human cell function, development and replication. Wang said the genome is under attack from a variety of sources. Normally, the DNA repair process can overcome these attacks, but repeated drug exposure can disrupt this process, changing gene expression, cell function and leading to abnormal drug addiction-related behaviors.

Wangs research focuses on the DNA break-and-repair processes disrupted by addiction. Ultimately, Wang said she aims to help the genome maintain a normal or healthy environment in the cell and identify a potential therapy for these patients to prevent them from relapsing to drug use.

The therapeutic approach needed to target DNA breaks has yet to be developed but could come in the form of a drug or gene therapy. Right now, we are still at the initial step, but eventually we want to provide novel insight for the development of future therapies, Wang said. The first thing we want to do is have a clearer idea of the neurobiology underlying this opioid addiction.

The work on this grant addresses a critical issue: what causes drug users to relapse to using drugs after they manage to quit drug use, said Nancy Muma, chair of the Department of Pharmacology & Toxicology. Zijun has developed a novel approach to determine if the problem is damage to the persons genes. If this is the case, then future research can begin to address ways to mitigate the damage to the genes to prevent or reduce relapse.

This is novel research that no one else has done before, Wang said. How does DNA damage contribute to opioid addiction? We're trying to make a link between those. At the end of the day, we want to find a treatment that can reduce drug-seeking behavior.

This grant is funded through the Genetics or Epigenetics of Substance Use Disorders Avenir Award program that supports highly creative early-stage investigators proposing innovative studies that open new areas of research for the genetics or epigenetics of addiction.

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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Pharmacy researcher earns $2.3 million NIH award to study opioid addiction - EurekAlert

Our genetics, the environment and our age all play important roles in our health, but which of these is the most important? A new UC Berkeley study suggests that in many cases, age plays a more important role than genetics in determining which genes in our bodies are turned on or off, influencing our susceptibility to disease.

Amid much speculation and research about how our genetics affect the way we age, a University of California, Berkeley, study now shows that individual differences in our DNA matter less as we get older and become prone to diseases of aging, such as diabetes and cancer.

In a study of the relative effects of genetics, aging and the environment on how some 20,000 human genes are expressed, the researchers found that aging and environment are far more important than genetic variation in affecting the expression profiles of many of our genes as we get older. The level at which genes are expressed -- that is, ratcheted up or down in activity -- determines everything from our hormone levels and metabolism to the mobilization of enzymes that repair the body.

"How do your genetics -- what you got from your sperm donor and your egg donor and your evolutionary history -- influence who you are, your phenotype, such as your height, your weight, whether or not you have heart disease?" said Peter Sudmant, UC Berkeley assistant professor of integrative biology and a member of the campus's Center for Computational Biology. "There's been a huge amount of work done in human genetics to understand how genes are turned on and off by human genetic variation. Our project came about by asking, 'How is that influenced by an individual's age?' And the first result we found was that your genetics actually matter less the older you get."

In other words, while our individual genetic makeup can help predict gene expression when we are younger, it is less useful in predicting which genes are ramped up or down when we're older -- in this study, older than 55 years. Identical twins, for example, have the same set of genes, but as they age, their gene expression profiles diverge, meaning that twins can age much differently from each other.

The findings have implications for efforts to correlate diseases of aging with genetic variation in humans, Sudmant said. Such studies should perhaps focus less on genetic variants that impact gene expression when pursuing drug targets.

"Almost all human common diseases are diseases of aging: Alzheimer's, cancers, heart disease, diabetes. All of these diseases increase their prevalence with age," he said. "Massive amounts of public resources have gone into identifying genetic variants that predispose you to these diseases. What our study is showing is that, well, actually, as you get older, genes kind of matter less for your gene expression. And so, perhaps, we need to be mindful of that when we're trying to identify the causes of these diseases of aging."

Sudmant and his colleagues reported their results this week in the journal Nature Communications.

Medawar's hypothesis

The findings are in line with Medawar's hypothesis: Genes that are turned on when we are young are more constrained by evolution because they are critical to making sure we survive to reproduce, while genes expressed after we reach reproductive age are under less evolutionary pressure. So, one would expect a lot more variation in how genes are expressed later in life.

"We're all aging in different ways," Sudmant said. "While young individuals are closer together in terms of gene expression patterns, older individuals are further apart. It's like a drift through time as gene expression patterns become more and more erratic."

This study is the first to look at both aging and gene expression across such a wide variety of tissues and individuals, Sudmant said. He and his colleagues built a statistical model to assess the relative roles of genetics and aging in 27 different human tissues from nearly 1,000 individuals and found that the impact of aging varies widely -- more than twentyfold -- among tissues.

"Across all the tissues in your body, genetics matters about the same amount. It doesn't seem like it plays more of a role in one tissue or another tissue," he said. "But aging is vastly different between different tissues. In your blood, colon, arteries, esophagus, fat tissue, age plays a much stronger role than your genetics in driving your gene expression patterns."

Sudmant and colleagues also found that Medawar's hypothesis does not hold true for all tissues. Surprisingly, in five types of tissues, evolutionary important genes were expressed at higher levels in older individuals.

"From an evolutionary perspective, it is counterintuitive that these genes should be getting turned on, until you take a close look at these tissues," Sudmant said. These five tissues happen to be the ones that constantly turn over throughout our lifespan and also produce the most cancers. Every time these tissues replace themselves, they risk creating a genetic mutation that can lead to disease.

"I guess this tells us a little bit about the limits of evolution," he said. "Your blood, for instance, always has to proliferate for you to live, and so these super-conserved, very important genes have to be turned on late in life. This is problematic because it means that those genes are going to be susceptible to getting somatic mutations and getting turned on forever in a bad, cancerous way. So, it kind of gives us a little bit of a perspective on what the limitations of living are like. It puts bounds on our ability to keep living."

Sudmant noted that the study indirectly indicates the effect on aging of one's environment, which is the impact of everything other than age and genetics: the air we breathe, the water we drink, the food we eat, but also our levels of physical exercise. Environment amounts to up to a third of gene expression changes with age.

Sudmant is conducting similar analyses of the expressed genes in several other organisms -- bats and mice -- to see how they differ and whether the differences are related to these animals' different lifespans.

UC Berkeley graduate students Ryo Yamamoto and Ryan Chung are co-first authors of the paper. Other co-authors are Juan Manuel Vazquez, Huanjie Sheng, Philippa Steinberg and Nilah Ioannidis. The work was supported by the National Institute of General Medical Sciences (R35GM142916) of the National Institutes of Health.

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Study shows age often plays a bigger role than genetics in gene expression and susceptibility to disease - Anti Aging News

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Submitted by Direct Relief

Direct Relief today announced the launch of a joint, multi-year initiative with Amgen and the City Cancer Challenge (C/Can) to support breast cancer patients in Paraguay.

In coordination with C/Can, which has worked to advance equitable access to cancer diagnostics and treatment in Paraguay since 2017, Direct Relief will deliver Amgen-donated medications to specialized cancer treatment centers in Asuncion.

"Direct Relief is deeply appreciative to Amgen and C/Can for their leadership and initiative in providing equitable and quality access to these critical treatments," said Damon Taugher, VP of global programs at Direct Relief. "Thanks to this collaboration, people who would otherwise be unable to access cancer therapies will be able to receive the treatments they need."

In the short term, the initiative aims to establish a standardized methodology for achieving in-country readiness to support equitable and quality access to breast cancer diagnostics and medicines. It will also be reinforced with ongoing efforts to strengthen local infrastructure and the healthcare workforce in Paraguay's leading cancer treatment institutions.

With support from Amgen, Direct Relief and C/Can will engage local stakeholders in bolstering Paraguay's cancer care infrastructure and healthcare workforce, covering the areas of diagnosis, treatment, and palliative and supportive care.

"Our initiative with C/Can and Direct Relief can bring much-needed medicines to people suffering with cancer," said Dr. Victoria Elegant, Global Lead, Access to Healthcare, at Amgen. "This will help achieve a sustainable improvement in the provision of cancer services and make an enduring difference."

In short, the provision of donated medicines will be matched with quality improvements in the building blocks of Paraguay's cancer-care health system, continuing C/Can's work with local stakeholders to improve and sustain standards of care for breast cancer patients overall.

"By partnering with a global leader in cancer medicines like Amgen along with Direct Relief's experience in cold chain logistics, we can ensure that the efforts that the city of Asuncin has led through the C/Can initiative have strengthened the critical path to ensure that access to medicines is a sustainable, structures and measurable process and not limited to the delivery of donated medicines," said C/Can CEO, Isabel Mestres.

About City Cancer Challenge Foundation (C/Can)C/Can supports cities around the world as they work to improve access to equitable, quality cancer care. Since its launch in 2017 by the Union for International Cancer Control (UICC), C/Can has developed a new model of addressing access to cancer care that, for the first time, leverages the city as a key enabler in a health system's response to cancer.

About Direct ReliefAs a humanitarian organization committed to improving the health and lives of people affected by poverty and emergencies, Direct Relief delivers lifesaving medical resources throughout the US and the world to communities in needwithout regard to politics, religion, or the ability to pay. For more information, visit https://www.DirectRelief.org.

About AmgenAmgen is committed to unlocking the potential of biology for patients suffering from serious illnesses by discovering, developing, manufacturing, and delivering innovative human therapeutics. This approach begins by using tools like advanced human genetics to unravel the complexities of disease and understand the fundamentals of human biology.

Amgen focuses on areas of high unmet medical need and leverages its expertise to strive for solutions that improve health outcomes and dramatically improve people's lives. A biotechnology pioneer since 1980, Amgen has grown to be one of the world's leading independent biotechnology companies, has reached millions of patients around the world and is developing a pipeline of medicines with breakaway potential.

Amgen is one of the 30 companies that comprise the Dow Jones Industrial Average and is also part of the Nasdaq-100 index. In 2021, Amgen was named one of the 25 World's Best Workplaces by Fortune and Great Place to Work and one of the 100 most sustainable companies in the world by Barron's.

A humanitarian organization committed to improving the health and lives of people affected by poverty and emergencies, Direct Relief delivers lifesaving medical resources throughout the U.S. and world to communities in needwithout regard to politics, religion, or ability to pay. For more information, visithttps://www.DirectRelief.org.

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CSRWire - Direct Relief, Amgen and C/Can Team Up To Improve Access to Breast Cancer Diagnostics and Treatment in Paraguay - CSRwire.com

SOUTH SAN FRANCISCO, Calif.--(BUSINESS WIRE)--Maze Therapeutics, a company translating genetic insights into new precision medicines, today announced that Harold Bernstein, M.D., Ph.D., a 30-year industry veteran, has been appointed as president, head of research and development (R&D) and chief medical officer. In addition, Eric Green, M.D., Ph.D., who has served as Mazes senior vice president, research and translational sciences, has been promoted to chief scientific officer.

Harold brings an impressive combination of industry and academic experience, as well as the unique perspective of a practicing physician, to the Maze team at an important stage of our development. Further, with much of Harolds experience having focused on human genetics, he is a natural candidate for this position, and Im thrilled to welcome him to our team and mission, said Jason Coloma, Ph.D., chief executive officer of Maze. I am also pleased to announce the promotion of Eric to CSO, who has been a true leader and driving force behind much of Mazes platform and pipeline advancement since our founding. Eric and Harold will be instrumental in executing the advancement of our diverse pipeline, which spans monogenic diseases like Pompe disease, and more complex diseases, like chronic kidney disease. I look forward to partnering with these two experts as we deliver on our vision of harnessing the power of human genetics to transform the lives of patients.

Maze has attracted some of the best minds in biotech and has proven itself through impressive progress since its founding, including the build-out of its Compass platform and rapid advancement into the clinic, said Dr. Bernstein. I was drawn to the Maze teams lofty goal of shifting the paradigm in medicine, in particular for more complex diseases such as chronic kidney disease, during an unprecedented time for the field of genetics and precision medicine. As head of R&D, I look forward to shaping and contributing to a creative strategy and thorough scientific process aimed at delivering new, genetic-based medicines. I am thrilled to join the Maze team as we urgently work to create and advance therapeutically meaningful treatments to help patients in need.

Dr. Bernstein brings more than three decades of experience in basic scientific research, translational medicine and clinical development both in industry and academia. He joins Maze from BioMarin, where he served as senior vice president, chief medical officer and head of global clinical development. In this role, he was responsible for fortifying clinical development from early to late stages, working seamlessly with research discovery and overseeing the late-stage and lifecycle products. Prior to BioMarin, he was head of translational medicine and vice president of global medicines development and medical affairs at Vertex, and earlier held roles at Merck, including head of early development for cardiometabolic diseases. Dr. Bernstein was professor of pediatrics and a senior investigator at the Cardiovascular Research Institute and the Broad Center of Regeneration Medicine and Stem Cell Research at the University of California, San Francisco (UCSF). He also served as attending physician at UCSF Benioff Childrens Hospital in pediatric cardiology, and at the Mount Sinai Kravis Childrens Hospital in cardiovascular genetics. Dr. Bernstein currently holds an appointment as adjunct professor of pediatrics and the Mindich Child Health and Development Institute at the Icahn School of Medicine at Mount Sinai. He studied biomedical science, human genetics and medicine at the Mount Sinai School of Medicine, earning an M.Phil., Ph.D. and M.D. He completed a pediatric residency, cardiology fellowship and postdoctoral fellowship at UCSF and earned an A.B. in biological sciences from Harvard College.

Dr. Green is a physician-scientist and entrepreneur with more than 15 years of experience building and operating innovative scientific organizations. Prior to Maze, Dr. Green was an entrepreneur-in-residence at Third Rock Ventures, where he was involved in launching and building multiple Third Rock portfolio companies, including MyoKardia where he led the translational research group working on mavacamten, which was eventually acquired by Bristol Myers Squibb. Dr. Green is a board-certified physician with training in internal medicine and cardiovascular medicine from Brigham and Womens Hospital. He holds an M.D. and Ph.D. in chemical and systems biology from Stanford University and an A.B. in history and science from Harvard College.

About Maze Therapeutics

Maze Therapeutics is a biopharmaceutical company applying advanced data science methods in tandem with a robust suite of research and development capabilities to advance a pipeline of novel precision medicines for patients with genetically defined diseases. Maze has developed the Maze CompassTM platform, a proprietary, purpose-built platform that combines human genetic data, functional genomic tools and data science technology to map novel connections between known genes and their influence on susceptibility, timing of onset and rate of disease progression. Using Compass, Maze is building a broad portfolio of wholly owned and partnered programs. Maze is based in South San Francisco. For more information, please visit mazetx.com, or follow us on LinkedIn and Twitter.

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Maze Therapeutics Appoints Harold Bernstein, M.D., Ph.D., as President, Research and Development and Chief Medical Officer - Business Wire