Category Archives: Transhuman News

The Department of Genetics and Human Genetics offers courses leading to the Master of Science and Doctor of Philosophy degrees . The program is associated with the Departments of Pediatrics and Biology so that students will not only learn to work creatively in their own field of special interest but will also be able to relate their findings to progress made in related disciplines.

The graduate programs in Genetics & Human Genetics are designed to confer the training standards that will develop students for degrees of Doctorate of Philosophy Masters, and M.D./Ph.D. degree(s). The graduate program is an interdepartmental entity built on a diverse platform.

The program is associated with the department of Pediatrics and department of Biology where students work creatively in their field of special interest but and be able to relate application and relevance to related clinical and science disciplines.

The degree programs are designed to provide a curricular foundation in human genetics for all enrolled students during their first year.Following this, guided by their academic adviser, students elect to pursue their area of interest in genetics . This is accomplished through a combination of elective courses offered in the Department and other departments of the University, as well as in the Washington Area Consortium of Universities. The Masters thesis and Doctoral dissertation research interests likewise can reflect a broad range of interests, provided a suitable research mentor is identified in the graduate faculty.

This training program design takes into account the fact that genetics is increasingly relevant within the framework of multiple biomedical research and scholarly pursuits. The program design also is intended to foster the important principle of collaborative research and scholarship among biomedical disiplines.

The graduate programs are research-oriented curriculum's in the study of genetic mechanisms related to the transition from normal to disease states and intended to prepare graduates to participate in laboratory research.

To be accepted into the Graduate Program in Genetics and Human Genetics, students must have a Bachelors degree from an accredited institution and a GPA of at least 3.0 or B equivalent. In addition, students must meet the University requirement(s) to take the Graduate Record Examination (and the TOEFL if applicable).

Students with a bachelor degree may enter the graduate program at the Masters level or directly into the Ph.D. program. Eligibility to be considered for direct admission as a Ph.D. student requires a cumulative GPA greater than 3.2 and prior research and/or training experience in during undergraduate school or during a previous Masters degree

Applicants are required to submit these items for consideration of acceptance and review of potential for success:

Students wishing to enter the master's program should have a baccalaureate degree and a cumulative GPA average of B or the equivalent. They also should have completed undergraduate courses in modern biology, chemistry through organic chemistry, general biochemistry, mathematics through calculus, and general genetics, or equivalent courses. These prerequisites apply regardless of specialization selected within the master's program.

Students with less than a B average or who have not completed all of the required undergraduate courses may be admitted conditionally if they have very high Graduate Record Examination scores and/or excellent recommendations.

Students may matriculate into the doctoral program, having completed a suitable Masters degree, provided they present evidence of previous research experience supported by excellent letters of recommendation, and grades above 3.2 average.

Students who do not meet these general criteria may be considered for the master's program as indicated above.

CORE COURSES AND COURSE OFFERINGS

Fall semester ( yr 1)

Spring semester (yr 1)

Fall Semester (yr 2)

Spring Semester (yr 2)

GENETIGENETICS AND HUMAN GENETICS COURSE DESCRIPTIONS

Intro to Biochemical Genetics 219 (6cr) Fall only (MWF) - This 6-credit course is designed as an introductory course in biochemistry with special emphasis on those areas of biochemistry that are especially relevant to genetics and human genetics. The course is team-taught using faculty members and guest lecturers who have particular interest or training in each topic to be covered. The course is organized around four major units: Proteins and Enzymes, Nucleic Acids, Hormones, and Metabolism. The course is designed to develop a students; recall of cellular biochemistry, knowledge base of the relationship between the genetic code and the translation of biochemical pathways in disease pathology, comprehension of the relationship between pathological genetic changes to the biological process that cause human disorders.

Research in Genetics 220 GC (1-9cr). This course provides academic credit for independent research. It is offered on a variable credit basis and students may elect to register for 1 to 9 credits, depending on the level of time commitment to research the student expects to dedicate. In most cases, the research conducted in this venue is research under the guidance of a faculty mentor of the students choosing leading to a masters thesis or doctoral dissertation. This course is structured so that Masters and Doctoral students can focus on and perform literature research, identify mentors & research projects, and conduct thesis and dissertation research in the Department of Genetics & Human Genetics. Because research is rarely completed in a single semester, this course may be taken repeatedly until the research is concluded and the thesis or dissertation judged to have passed.

Hum Biochemistry & Molecular Gene 222 (4cr). This course explores the biochemical characteristics of variation in human genetic material and in corresponding gene products. This requires integrating information on gene structure, regulation of gene expression, gene product, and the physiological/anatomical phenotypes which reflect mutations. This course addresses concepts of intragenic repetitive sequences, DNA methylation, imprinting, genetic heterogeneity as it relates to genotype-phenotype correlation. The molecular evolution of specific genes are explored through both orthologous and paralogous sequence homologies. The goals of the course is to develop familiarity with a sample of genetic disorders distributed over various human anatomic, biochemical, and physiological systems, develop skills in integrating inherited abnormalities in molecular and biochemical structures as rational explanations for selected phenotypes. The format of the course consists of lectures by a spectrum of clinicians and researchers who have a high degree of familiarity with their subject matter.

Human Genetics I 223 GC (3cr) Fall only. The course is distributed over two semesters as Human Genetics I & II. This course offers a careful study of the conceptual terrain for the discipline to develop a working familiarity with many of the central concepts in contemporary human genetics, recognize the roles of technology and human values in shaping the central concepts, develop proficiency in analyzing models of heritable variation and corresponding phenotypic expression, and their distributions in pedigrees and populations, and to identify evidence for interactions between gene expressions and environment to yield phenotypes. The course format combines lecture, discussion, assigned readings to provide further content depth and breadth.

Human Genetics II 224 (3cr) This course is a continuation of Human Genetics I. This course will cover a minimum of 30 multifactorial phenotypes (congenital malformations and late onset disorders). This course distinguishes and characterizes each of the models of inheritance as it pertains to relationships between genes and phenotype. Its designed to cover principles of multifactorial or polygenic models for estimating empiric recurrence probabilities, correlations between genetic and environmental factors of phenotypic value and heritabilities. One goal is to identify the spectrum of approaches currently envisioned for medical intervention in genetic disorders.

Cytogenetics 229 (3cr). This course is designed to develop a basic understanding of cytogenetics. The course covers chromosomal abnormalities and the etiology of how chromosomal aberrations contribute to congenital disease and cancer. The course will provide in-depth content and focus on cytogenetic and molecular cytogenetic diagnostic techniques. The goal of this course is to have students become proficient in preparing detailed genetic counseling case studies.

Seminar in Genetics 229 (2cr). This course is offered each semester and current residents are invited to register continuously. Course format involves student participation in group discussion and article presentation each class period. The course is designed to focus on acquiring familiarity with current research in basic, clinical, and translational genetic disorders presented in various peer reviewed journals. The format promotes developing skillsets for; gathering, organizing, validating, and interpreting data of peer reviewed articles in molecular, biochemical, clinical, and population genetics. Students will develop the knowledge base to identify and compare the quality of molecular techniques and analytical tools used to perform research. The goal is to acquire skills to employ information from peered reviewed publications as a guide to understanding molecular evolution and forming individual research hypothesis.

Introduction to Medical Genetics 231 (3cr) This course introduces students to the clinical aspect of a broad range of human genetic disorders, focusing on phenotypic characteristics, current confirmatory diagnostic techniques for each disorder, and approaches to interventions in terms of either prevention of occurrence, reduced morbidity, or achieving improved coping with disease. The course is designed to develop a students ability to construct pedigrees and to interpret modes of inheritance. Course formats consists lectures organized in a case study format such that an integration of all components of phenotype can be understood in relation to rationale for diagnostic methodology, and relevant intervention approaches. Students perform assigned reading, on-line searches on genetic diseases.

Intro to Research in Genetics 233 (3cr) This course is required for all Masters and Ph.D. students in the first year. The course is designed for development of a hypothetical research project and writing of a detailed research proposal as a semester-long exercise. The course objective is to acquaint the student with a multitude of issues that bear on the successful conduct of independent research which include; understanding how to conduct literature searches, development of a hypothesis, identification of specific aims that will test the hypothesis, experimental design using principles of the scientific method, preparation and presentation of a written research proposal. This exercise will prepare the student for developing a thesis or dissertation proposal.

Gene Structure & Action 236 (2cr). This course explores the molecular process by which the synthesis, expression, and manipulation of genetic material is organized in chromatin and in cis-acting elements governing the process of the central dogma. It will include a critical review of gene organization, regulation of gene expression by hormones, growth factors, and oxidant stress emphasizing signal transduction pathways and the action of ligand-receptor mediated transcription regulators. Attention will be paid to regulation of gene expression, transcription, and translation by RNA interference and natural & synthetic xenobiotics. The goal of this course os to understand the nature and function of gene expression in proliferation, differentiation, and apoptosis in development and disease.

Psychosocial Aspects of Gene Disorders 312 (3cr) Analyzes psychosocial consequences of genetic disorders for each member of the family, impacts on life plan, decision-making, coping strategies, and approaches to counseling for such psychosocial consequences. Case studies are included together with development of skills in psychosocial interviewing and pedigree construction. Enrollment is limited.

Ethical, Legal, Social Issues in Medicine 313 (3cr) This course introduces students to ethical and bioethical issues confronting healthcare providers in the context of health care delivery and research. Students are introduced to the main theories and principles of bioethics and the moral foundations of patient-provider relationships, professionalism, relevant ethical and legal considerations and the concepts of moral reasoning. By utilizing the Bebeau Grid method to collect and analyze case information, students to develop the critical thinking skills necessary to identify and analyze ethical dilemmas and to construct well-reasoned responses to the dilemmas and resolving case material presented in the small group class sessions.

Cancer Genetics I: Clinical Aspects of Cancer 315 (3cr). This advanced elective course focuses on the genetics of cancer, specifically clinical aspects of cancer. Course format follows two hours of didactic lectures with one hour of an active learning component, bioinformatics and labs. This course will provoke dialogue by engaging class participation in questions & answers, as well as targeted discussions of information on the lecture topic gathered from other resources. The course is designed as a valuable resource for mainly graduate and health professional trainees, with interests in genetics and clinical cancer genetics. This course serves as a prerequisite to Cancer Genetics II: Molecular Aspects of Cancer.

Mutation Human Genes 412 (2cr). This course is structured for research ideas and current advances in genetic and biochemical alterations as a tool for clinical and translation research. This entails an integration of current events and data into the learning modality that utilizes current peer reviewed journal articles. This course focuses on using the substantial array of literature and bioinformatics to develop skills for analyzing data and addressing concepts of interpretation of data. Current peer reviewed publications are the materials used to generate an active learning education that supports group teaching, individual communication, and development of analytic skills. Course format is seminar based where students will present a 2-3 page written summary on the topic covering the molecular lesion, biochemical pathology, and a specific clinical disease associated with the genetic mutation of topic.

SPECIALIZED TRAINING COLLABORATIONS:

National Human Genome Center

As the only research center of its kind at a predominantly African American university, the National Human Genome Center (NHGC) is singular in its capacity to provide leadership for America and the global community in genetic studies of diseases common in African Americans and other people of color throughout the African Diaspora. In concert with the mission of Howard University, particular emphasis at the NHGC is placed on providing education opportunities of exceptional quality for African Americans and other historically disenfranchised groups. The NHGC is also dedicated to attracting, sustaining, and developing a cadre of research scientists, who through their investigations, are committed to reducing health disparities among ethnic groups, preventing disease and promoting health.

The National Human Genome Center (NHGC) Molecular Genetics Training Program accepts and supports promising students who seek research training in molecular genetics, genomics, and related clinical fields. The overall goal of these programs is to promote interdisciplinary, collaborative and innovative research training in areas relevant to the mission of the National Human Genome Center at Howard University.

The NHGC is a strong, valuable, and supportive center for supervising, training, and developing the professional scholarship if residents of the Genetics & Human Genetics department.

Research Center in Minority Institutions (RCMI)

The RCMI Program focuses on the enhancement and further development of the necessary research infrastructure which will ensure the Universitys ability to contribute to the investigation of diseases and provide collaborative consolidation of instrumentation, technical expertise, and support personnel to enhance the impact and availability. These research infrastructure components include the expansion of two research core laboratories: The Laboratory of Molecular Computations and Bioinformatics (LMCB), the Proteiomics Core Facility and the Biomedical NMR Laboratory (BNMR).

New efforts and programs are being developed to train Genetics students in bioinformatics and computational biology.

Sickle Cell Disease Center

The Center is committed to a six-fold goal that includes comprehensive medical care, research, testing, education, counseling, and community outreach. Recently, the Center has expanded its clinical research program and developed a collaborative consortium with Childrens National Medical Center (CNMC) and in working together with Howard University Hospital and NIH.

The Center has a long history of major participation and leadership in national and international research projects that have led to the development of effective therapies for sickle cell disease. With many of the basic molecular issues in sickle cell disease being better understood, major research efforts now focus primarily on clinical issues such as treatment for the disease.

The Center for Sickle Cell Disease offers clinical services and patient care:

The Center for sickle cell disease has trained Genetics students in research-intensive thesis and dissertation projects that have produced scholarly work.

http://www.sicklecell.howard.edu/

Cancer Center

Howard University Cancer Center (HUCC) is our natural ability and strength to address cancer disparities with an emphasis on those cancers that disproportionately impact African-Americans, in particular. There are three overarching programmatic areas in the Cancer Center: (1) cancer biology; (2) cancer etiology; and (3) cancer prevention, control, and population sciences; whereby cancer disparities represent the underlying theme of the research focus.

The ultimate goal of the Cancer Biology Program is to translate basic laboratory results from the bench to the bedside. Research activities that are currently underway in the cancer biology program include the following: (1) prostate cancer genetics; (2) methylation profiling and risk of colorectal cancer; (3) differential transcription factor activation of H. pylori; (4) triple negative breast cancer in young African-American women; (5) nicotine, biogenic amines and depression; and (6) in vivo NMR spectroscopy for noninvasive pharmacokinetics.

The Cancer Etiology Program focuses on epidemiologic research among predominantly African-Americans and underserved populations. This program examines risk factors that increase or decrease the likelihood of developing cancer risk and its precursors.

The Cancer Prevention, Control and Population Science Programs goal is to reduce the burden of cancer measured by incidence, morbidity, and mortality utilizing behavioral and clinical research interventions.

The department of Genetics and Human Genetics and the Division of Medical Genetics have faculty in the Cancer center that assist in the training and prospectus documents of our Ph.D., masters, and masters in counseling students.

http://cancer.howard.edu/about/overview.htm

The steps in the application process are as follows:

The application for the M.D./Ph.D. program should be returned to:

Kareem Washington, Ph.D.Director M.D./Ph.D. ProgramHoward University College of Medicine520 W Street, NWWashington, DC 20059email:kareem.washington @howard.edu

A student, with the advice of the director of graduate studies, may file for admission to candidacy.

Students in the Ph.D. program are required to spend at least three semesters in full-time residence, two of which must be consecutive.

Assistant Professor

Principal Invetsigator

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Originally posted here:
Genetics and Human Genetics | Graduate School

The University Hospital Heidelberg is one of the major healthcare centers in Germany. Our objective is the development of innovative diagnostics and therapies as well as their quick implementation for the patient. With about 10,700 employees in more than 50 specialized clinical departments with almost 2,000 beds, about 80,000 patients in part-time and full-time inpatient treatment as well as 1,000,000 patients in ambulant treatment are medicated each year.

Postdoctoral position with combined wet and dry lab work at the Institute of Human Genetics (m/f/d)

JobID: P0025V441

at the earliest possible date searched for, AG Laugsch at the Institute of Human Genetics.

We are looking for an enthusiastic postdoc to join our research group at the Institute of Human Genetics of the University of Heidelberg. The position is limited to 3 years, with the option of further extension. The salary is based on TV-L salary groups.

Our laboratory explores the relationship between the head (craniofacial structures) and brain development in health and disease. We focus on developmental genes specifically and dynamically regulated, e.g., by enhancers. That regulation ensures the establishment of precise gene expression patterns during development, which might have pathological consequences when being disrupted.

Composed of international and multi-disciplinary scientists, our group creates a unique and inspiring environment and supports individual career development. For more information visit:

https://www.klinikum.uni-heidelberg.de/humangenetik/forschung/abt-humangenetik/ag-laugsch

(Magdalena Laugsch et al., Cell Stem Cell. 2019 May 2nd; Modelling the pathological longe-range regulatory effects of human structural variation with patient-specific hiPSC.;24(5):736-752)

Tasks and responsibilities

Creating and analyzing next-generation sequencing data, the successfull applicant will investigate the impact of cohesin on neural crest cells (hNCC) development and their contribution to Cornelia de Lange Syndrome (CdLS).

This rare but severe genetic disorder is caused by mutations in the cohesin complex or and its auxiliary factors and characterized by craniofacial and limbs malformations, heart defects, and cognitive deficits. Cohesin regulates the three-dimensional (3D) structure of chromatin and impacts the regulation of gene transcription. A large set of craniofacial abnormalities observed in CdLS patients most likely arises during the embryonic development of the hNCC. Hence, the postdoc will investigate the underlying molecular defects in hNCC derived from human induced pluripotent stem cells (hiPSC).

Combining genetic, epigenetic, and bioinformatic tools (hiPSC culture, CRISPR/Cas9 targeting, hNCC differentiation, RNA- and scRNA-seq, Hi-ChIP-seq, ATAC-seq, and analysis using advanced bioinformatics), the scientist will identify the 3D structure of chromatin and regulatory networks controlled by cohesin.

Your Profile

Ability to analyze your own data and significant proficiency as well as strong interest in Python, R, shell scripting and working with NGS data.

We offer

The application must include your motivation, a brief statement of your scientific interests, contact details from three references, curriculum vitae, separated publication list, and relevant certificates.

Please forward your complete application (in a single pdf document Filename: P0025V441_First Name_Second Name No other format will be accepted) by email.

Universittsklinikum Heidelberg

Institut fr Humangenetik

Dr. rer. nat. Magdalena Laugsch, Group Leader

Im Neuenheimer Feld 366

69120 Heidelberg

phone: +49 6221 56-39128

magdalena.laugsch@uni-heidelberg.de

The rest is here:
Postdoctoral position with combined wet and dry lab work at the - Nature.com

NEW YORK An international team of researchers has used transcriptomic data from ulcerative colitispatients to develop a predicted polygenic transcriptional risk score, or PPTRS,that can identify UC-affected individuals at fivefold elevated risk of progressing to surgical resection of the large bowel.

In a paper published on Thursday in the American Journal of Human Genetics, the Georgia Institute of Technology-led team noted that 5 percent to 10 percent of people with UC require bowel resection, or colectomy, within five years of diagnosis, but that polygenic risk scores based on genome-wide association studies generally don't provide meaningful prediction of progression to surgery. However, studies of Crohn's disease have shown that gene expression profiling of GWAS-significant genes provides some stratification of risk of progression to complicated disease through transcriptional risk scoring, or TRS.

In their paper, the researchers demonstrated that a measured TRS based on bulk rectal gene expression in a cohort of UC patients had a positive predictive value approaching 50 percent for colectomy. Single-cell profiling demonstrated that the disease-associated genes were active in multiple diverse cell types from both the epithelial and immune compartments, and expression quantitative trait locusanalysis identified genes with differential effects at baseline and the one-year follow-up, the researchers said. But for the most part, they found that differential expression associated with colectomy risk was independent of local genetic regulation.

Overall, their data suggested that prediction of gene expression from relatively small transcriptome datasets can be used in conjunction with transcriptome-wide association studies for stratification of risk of disease complications.

The researchers began by performing differential expression analysis between baseline rectal RNA-seq biopsies of individuals in the PROTECT multicenter pediatric inception cohort study of response to standardized colitis therapy. Analyses were done on 21 affected individuals who progressed to colectomy and 310 who did not. They identified downregulation of 783 transcripts in the individuals who underwent colectomy and upregulation of 1,405 transcripts overall.

They also obtained rectal biopsy RNA-seq data for 92 affected individuals at week 52 and observed a marked shift in gene expression at follow-up, prompting them to ask whether local regulation of the gene expression might contribute to this effect. They found that there were 72 SNPs that were significantly regulating 308 genes at both time points.

Further examination of the expression of colectomy-associated genes in a single-cell RNA-seq dataset obtained from rectal biopsies provided strong evidence that both epithelial and immune cells contributed to the risk of disease progression, the researchers said.

The researchers then performed a TWAS to capture the effects of all polymorphisms within 1 Mb of each transcript expressed in the PROTECT rectal biopsies and then used the weights to predict gene expression in a validation cohort from the UK Biobank. They tested for differential predicted gene expression in 70 percent of the validation samples and discovered about 800 genes either upregulated or downregulated in UC-affected individuals relative to non-IBD control individuals. They then derived a PPTRS for UC based on the effect sizes of the minor alleles and applied it to the remaining 30 percent of the validation samples, as well as to the PROTECT genotypes, and found that the PPTRS efficiently discriminated UC-affected individuals from non-IBD control individuals.

Significantly, it also discriminated the individuals who underwent colectomy versus those who didn't in both the UK Biobank and PROTECT.

"More extensive single-cell profiling, combined with cell-type-specific genetic analysis of gene expression, is likely to lead to the development of even better transcriptional risk signatures," the authors concluded. "It is also likely that such focused and personalized analysis may highlight specific pathological mechanisms active in particular affected individuals."

They did note, however, that these results were limited by the relatively small sample size of colectomies in the PROTECT study, and that validation of cross-ancestry assessments and the evaluation of the consistency of gene expression prediction across populations should be a high priority.

In an email, corresponding author and GIT researcher Greg Gibson noted that while the study's multiple layers of replication show that transcriptional profiling of the rectum greatly enhances risk stratification for risk of colectomy, this was not a clinical trial, so the approach is not yet approved for evaluation of patients.

"We hope that it will progress to implementation in the near future," he added."The prediction from genotypes alone is less likely to have clinical utility since the precision is still quite low, so that aspect is more research oriented."

He further noted that the approach he and his colleagues used could also be applied to a wide range of diseases, and that they are pursuing that research.

Read the original here:
Ulcerative Colitis Study Analyzes Gene Expression to Measure Risk of Progression to Surgery - GenomeWeb

SAN DIEGO, Aug. 26, 2021 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (Nasdaq: BNGO) today announced the European Society of Human Genetics (ESHG) conference lineup featuring 11 customer presentations of optical genome mapping (OGM) data spanning three major clinical areas of application from 10 institutions and six countries. The clinical application areas represented below cover hematological malignancies, inherited genetic disorders and solid tumor analysis. The presentations are expected to cover the clinical utility of OGM across these application areas, along with the unique capabilities of Bionanos Saphyr system to detect all classes of structural variants, across the genome, at a superior resolution relative to traditional techniques. The ESHG conference is being held virtually starting this Saturday from August 28 - 31, 2021.

More than 3,400 participants are registered for this years ESHG meeting, which provides a platform for the dissemination of the most exciting advancements in the field of human genetics. The upcoming customer presentations featuring OGM data are listed below along with the associated clinical areas of application:

OGM Application Area

Presenter

Affiliation

Presentation/Poster Title

Hematological Malignancies

Dr. Anna Puiggros

Hospital del Mar, Barcelona, Spain

Analysis of genomic complexity in patients with chronic lymphocytic leukemia (CLL) using optical genome mapping

Dr. Jonathan L. Lhmann

Hannover Medical School, Hannover, Germany

The clinical utility of optical genome mapping for the assessment of genomic aberrations in acute lymphoblastic leukemia

Inherited Genetic Disorders

Dr. Caroline Schluth-Bolard

Universite Hospital de Lyon, France

What is the best solution to manage failures of chromosomal structural variations detection by short-read strategy?

Dr. Kornelia Neveling

Radboud University Medical Centre, Netherlands

Long-read technologies identify a hidden inverted duplication in a family with choroideremia

Dr. Valrie Race

Univ. Hosp. of Leuven, Leuven, Belgium

Bionano optical genome mapping and southern blot analysis for FSHD detection

Dr. Romain Nicolle

Hospital Necker-Enfants Malades, Paris, France

16p13.11p11.2 triplication syndrome: a new recognizable genomic disorder characterized by Bionano optical genome mapping and WGS

Dr. Jenny Schiller

MVZ Martinsried, Martinsried, Germany

Characterization of breakpoint regions of apparently balanced translocations by optical genome mapping

Dr. Viola Alesi

Bambino Ges Children's Hospital, Rome, Italy,

Optical Genome Mapping: where molecular techniques give up

Dr. Valeria Orlando

Bambino Ges Children's Hospital, Rome, Italy

Optical genome mapping: a cytogenetic revolution

Solid Tumor Analysis

Dr. Florentine Scharf

Medical Genetics Center Munich, Germany

Germline chromothripsis of the APC locus in a patient with adenomatous polyposis

Dr. Mariangela Sabatella

Princess Maxima Center for Pediatric Oncology, Utrecht, Netherlands

Optical Genome Mapping Identifies Germline Retrotransportation Insertion in SMARCB1 in Two Siblings with Atypical Teratoid Rhabdoid Tumor

We believe our progress in Europe, with the increased awareness of OGM and the development of the market there, has been outstanding, commented Erik Holmlin, PhD, CEO of Bionano Genomics. Thanks to key sites like Radboud, Leuven and Cochin, the OGM footprint has now expanded in Germany, Spain and Italy. With the growing installed base of Saphyr in Europe, we have seen these institutions and their research teams conduct ground-breaking research to help demonstrate the potential utility of OGM as an alternative to traditional cytogenetics methods for the identification of genome structural variations that can be more sensitive, give a faster time to results and be less expensive to implement when compared to traditional methods. We believe the momentum of research that has been building will continue as more supporting data, like the data that we expect the researchers to show this week at ESHG, are released from around the world.

Story continues

For more details and to register for this online event please go to https://vmx.m-anage.com/home/release/eshg2021/en-GB

About Bionano Genomics

Bionano is a genome analysis company providing tools and services based on its Saphyr system to scientists and clinicians conducting genetic research and patient testing, and providing diagnostic testing for those with autism spectrum disorder (ASD) and other neurodevelopmental disabilities through its Lineagen business. Bionanos Saphyr system is a research use only platform for ultra-sensitive and ultra-specific structural variation detection that enables researchers and clinicians to accelerate the search for new diagnostics and therapeutic targets and to streamline the study of changes in chromosomes, which is known as cytogenetics. The Saphyr system is comprised of an instrument, chip consumables, reagents and a suite of data analysis tools. Bionano provides genome analysis services to provide access to data generated by the Saphyr system for researchers who prefer not to adopt the Saphyr system in their labs. Lineagen has been providing genetic testing services to families and their healthcare providers for over nine years and has performed over 65,000 tests for those with neurodevelopmental concerns. For more information, visit http://www.bionanogenomics.com or http://www.lineagen.com.

Forward-Looking Statements

This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Words such as may, will, expect, plan, anticipate, estimate, intend and similar expressions (as well as other words or expressions referencing future events, conditions or circumstances) convey uncertainty of future events or outcomes and are intended to identify these forward-looking statements. Forward-looking statements include statements regarding our intentions, beliefs, projections, outlook, analyses or current expectations concerning, among other things: the timing, content and significance of the presentations identified in this press release; our assessments regarding our progress in the European market, including our expectations with respect to the continued adoption of OGM throughout Europe; the benefits of OGM relative to traditional cytogenetic testing methods and its potential to replace traditional cytogenetic methods; our assessments regarding current and future research by the institutions identified in this press release; and the execution of Bionanos strategy. Each of these forward-looking statements involves risks and uncertainties. Actual results or developments may differ materially from those projected or implied in these forward-looking statements. Factors that may cause such a difference include the risks and uncertainties associated with: potential inaccuracies in presentations given at the ESHG Conference or subsequently published data that may minimize the impact of OGM in human genetics; the impact of the COVID-19 pandemic on our business and the global economy; general market conditions; changes in the competitive landscape and the introduction of competitive products; changes in our strategic and commercial plans; our ability to obtain sufficient financing to fund our strategic plans and commercialization efforts; the ability of medical and research institutions to obtain funding to support adoption or continued use of our technologies; the loss of key members of management and our commercial team; and the risks and uncertainties associated with our business and financial condition in general, including the risks and uncertainties described in our filings with the Securities and Exchange Commission, including, without limitation, our Annual Report on Form 10-K for the year ended December 31, 2020 and in other filings subsequently made by us with the Securities and Exchange Commission. All forward-looking statements contained in this press release speak only as of the date on which they were made and are based on management's assumptions and estimates as of such date. We do not undertake any obligation to publicly update any forward-looking statements, whether as a result of the receipt of new information, the occurrence of future events or otherwise.

CONTACTSCompany Contact:Erik Holmlin, CEOBionano Genomics, Inc.+1 (858) 888-7610eholmlin@bionanogenomics.com

Investor Relations and Media Contact:Amy ConradJuniper Point+1 (858) 366-3243amy@juniper-point.com

Here is the original post:
Bionano Genomics Announces ESHG Lineup Featuring 11 Customer Presentations of OGM Data Spanning Three Major Clinical Research Areas of Application...

By Brian McNeill

An analysis of data from 1.5 million people has identified 579 locations in the genome associated with a predisposition to different behaviors and disorders related to self-regulation, including addiction and child behavioral problems.

With these findings, researchers have constructed a genetic risk score a number reflecting a persons overall genetic propensity based on how many risk variants they carry that predicts a range of behavioral, medical and social outcomes, including education levels, obesity, opioid use disorder, suicide, HIV infections, criminal convictions and unemployment.

[This study] illustrates that genes dont code for a particular disorder or outcome; there are no genes for substance use disorder, or for behavior problems, said joint senior authorDanielle Dick, Ph.D., Distinguished Commonwealth Professor of Psychology and Human and Molecular Genetics at Virginia Commonwealth University. Instead, genes influence the way our brains are wired, which can make us more at risk for certain outcomes. In this case, we find that there are genes that broadly influence self-control or impulsivity, and that this predisposition then confers risk for a variety of life outcomes.

The study, Multivariate Analysis of 1.5 Million People Identifies Genetic Associations with Traits Related to Self-Regulation and Addiction, was published today in the journal Nature Neuroscience and was conducted by a consortium of 26 researchers at 17 institutions in the United States and the Netherlands.

It was led by Dick;Philipp Koellinger, Ph.D., professor of social science genetics at the University of Wisconsin Madison and Vrije Universiteit Amsterdam;Kathryn Paige Harden, Ph.D., professor of psychology at the University of Texas at Austin; andAbraham A. Palmer, Ph.D., professor of psychiatry at the University of California, San Diego.

The study is one of the largest genome-wide association studies ever conducted, pooling data from an effective sample size of 1.5 million people of European descent. The researchers genetic risk score has one of the largest effect sizesa measurement of the prediction powerof any genetic risk score for a behavioral outcome to date.

It demonstrates the far-reaching effects of carrying a genetic liability toward lower self-control, impacting many important life outcomes, said Dick, a professor in the Department of Psychology in the College of Humanities and Sciences and the Department Human and Molecular Genetics in the School of Medicine at VCU. We hope that a greater understanding of how individual genetic differences contribute to vulnerability can reduce stigma and blame surrounding many of these behaviors, such as behavior problems in children and substance use disorders.

The identification of the more than 500 genetic loci is important, the researchers said, because it provides new insight into our understanding of behaviors and disorders related to self-regulation, collectively referred to as externalizing and that have a shared genetic liability.

We know that regulating behavior is a critical component of many important life outcomesfrom substance use and behavioral disorders, like ADHD, to medical outcomes ranging from suicide to obesity, to educational outcomes like college completion, Dick said.

Characterizing the genetic contributions to self-regulation can be helpful in myriad ways, she said.

It allows us to better understand the biology behind why some people are more at risk, which can assist with medication development, and it can allow us to know who is more at risk, so we can put early intervention and prevention programs in place, she said. Identifying genetic risk factors is a critical component of precision medicine, which has the goal of using information about an individuals genetic and environmental risk factors to deliver more tailored, effective intervention specific to that individuals risk profile.

The researchers noted, however, that having a higher risk profile isnt necessarily a bad thing.

For example, CEOs, entrepreneurs and fighter pilots are often higher on risk taking, Dick said. DNA is not destiny. We all have unique genetic codes, and were all at risk for something; but understanding ones predisposition can be empoweringit can help individuals understand their strengths, and their potential challenges, and act accordingly.

For more information about the study and its findings, please visit thisFAQ.

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Study identifies 579 genetic locations linked to anti-social behavior, alcohol use, opioid addiction and more - VCU News