NHGRI

Twist Bioscience Launches Pangenome Spike-in Exome Panel to Enable Advancement of Research for Diverse Populations

Retrieved on: 
Thursday, March 28, 2024
Research, Technology, Semiconductor, Genetics, Nanotechnology, Biotechnology, Hardware, Health, Data Management, Science, Genetic variation, Panel, NHGRI, Twist Bioscience, Twist, WES, Genome, Doctor of Philosophy, Sequence, Production, Exome, Silicon

In order to advance science for all people, researchers need to have tools that enable them to conduct research relevant to people from diverse backgrounds,” said Emily M. Leproust, Ph.D., CEO and co-founder of Twist Bioscience.

Key Points: 
  • In order to advance science for all people, researchers need to have tools that enable them to conduct research relevant to people from diverse backgrounds,” said Emily M. Leproust, Ph.D., CEO and co-founder of Twist Bioscience.
  • “When companies such as Twist utilize our reference standard to create research tools, it facilitates scientists’ study of genetic variation.
  • The Twist Human Pangenome Spike-in Panel targets 2.5 Mb of pangenome variants and can be spiked into the Twist Exome 2.0 to target more than 94% of the novel pangenome variants affecting coding sequences in the exome.
  • If interested in the Human Pangenome Spike-in Panel for the Twist Exome 2.0 panel, please complete the contact form here: https://www.twistbioscience.com/contact

CCRM FERTILITY WELCOMES REGIONAL DIRECTOR OF CLINICAL REPRODUCTIVE GENETICS, DR. JASMINE ALY, TO JERSEY CITY TEAM

Retrieved on: 
Wednesday, March 27, 2024
ART, WRNMMC, Obstetrics, PCOS, Gynaecology, Obesity, Polycystic disease, Reproductive Sciences, Science, NHGRI, Genetic distance, FACOG, Genetics, COVID-19, Patient, Empathy, Medical genetics, Cooper University Hospital, Research, African Americans, USUHS, Fibroid, Reproduction, Assisted reproductive technology, IRMS, NIH, Polycystic ovary syndrome, Outline of health sciences, Reproductive endocrinology and infertility, Publication, Fertility, REI, Birth control

JERSEY CITY, N.J., March 27, 2024 /PRNewswire/ -- CCRM Fertility, a leading pioneer in the fertility treatment, research, and science industry, announced today that Jasmine Aly, MD, FACOG, will be joining  CCRM | IRMS in New Jersey. Dr. Aly holds the rare distinction of being a triple-specialized physician as an Obstetrician-Gynecologist, Reproductive Endocrinologist, and Medical Geneticist.

Key Points: 
  • JERSEY CITY, N.J., March 27, 2024 /PRNewswire/ -- CCRM Fertility, a leading pioneer in the fertility treatment, research, and science industry, announced today that Jasmine Aly, MD, FACOG, will be joining  CCRM | IRMS in New Jersey.
  • As Regional Director of Clinical Reproductive Genetics, Dr. Aly will bring her expertise to the CCRM Fertility team and aims to leverage her comprehensive fellowship training in genetics to further advance the field and better serve patients.
  • As an esteemed reproductive endocrinologist, she will utilize cutting-edge  technology and innovative scientific techniques to ensure patient success rates continue to rise.
  • "Dr. Aly's expertise in genetics is an invaluable attribute that will redefine care at CCRM | IRMS," notes CCRM Fertility CEO, Bob LaGalia.

Synthetic DNA Sheds Light on Mysterious Difference Between Living Cells at Different Points in Evolution

Retrieved on: 
Wednesday, March 6, 2024
Human services, Nature, Engineering, Fungus, Sol, Nonsense, Doctor of Philosophy, HPRT1, CpG, DNAS, Health, Noise, Genetic code, Thymine, Letter, Cell, Factorization of polynomials, RNA, Human, Adenosine, NYU Langone Health, Genome, Protein, Gene, Genomics, Genetics, Accident, NHGRI, DNA, Mouse, Vaccine

Is it just noise, a side effect of evolution, or does it have functions?

Key Points: 
  • Is it just noise, a side effect of evolution, or does it have functions?
  • A research team at NYU Langone Health sought to answer the question by creating a large, synthetic gene, with its DNA code in reverse order from its natural parent.
  • Then they put synthetic gene into yeast and mouse stem cells and watched transcription levels in each.
  • The study authors use yeast cells to assemble long DNA sequences in a single step, and then deliver the them into mouse embryonic stem cells.

The New York Academy of Medicine Announces 2023 Annual Award Recipients

Retrieved on: 
Thursday, September 7, 2023
Panzi Hospital, New York Academy of Medicine, Harvey V. Fineberg, NYAM, University, Health policy, Population health, Face, CNM, Public, University of Washington, COVID-19, Department of Medicine – University of Pamplona, FACC, Health equity, Biomedical Research, Health informatics, Hope, Woman, CPA Donald O. Hebb Award for Distinguished Contributions to Psychology as a Science, MBA, Research, Genomics, Doctor of Philosophy, Feinberg School of Medicine, MACP, NHGRI, Social justice, Democratic republic, Work, FAHA, Biomedicine, Diversity, Informatics, Inclusion, American Cancer Society, Health, MPH, NIH, Breast cancer, Pharmaceutical industry, Nursing, Beauty salon, Management, MD, Cardiology, Medicine

New York, NY, Sept. 07, 2023 (GLOBE NEWSWIRE) -- The New York Academy of Medicine (NYAM) will present its prestigious, historic annual awards at a virtual event on Wednesday, September 27, 2023.

Key Points: 
  • New York, NY, Sept. 07, 2023 (GLOBE NEWSWIRE) -- The New York Academy of Medicine (NYAM) will present its prestigious, historic annual awards at a virtual event on Wednesday, September 27, 2023.
  • Recipients of this award over the years have included Katalin Karikó and Drew Weissman, Elaine Fuchs, Harold Varmus, David Biltmore, and Réne Dubos.
  • Recent recipients of this award over the years include Kizzmekia Corbett, Barney Graham, William Gruber, Philip A. Pizzo, and David Hamburg.
  • Recent recipients of this award over the years include James Flynn, George E. Thibault, Claire Fagin, and Margaret Mahoney.

Behind the Scenes of a Major Genomic Discovery: Eimear Kenny plays an integral role in an international scientific effort that produces a more inclusive genome reference

Retrieved on: 
Wednesday, May 10, 2023
Gene conversion, DNA, Genomic Health, Human, Nature, Human genome, National Human Genome Research Institute, Icahn School of Medicine at Mount Sinai, Principal investigator, Mutation, Research, Medicine, Mount Sinai, Genomics, Doctor of Philosophy, Bangladesh Technical Education Board, NHGRI, Genetics, DOI, Chromosome, MD, Collection, James D. Watson Institute of Genome Sciences, Nature Biotechnology, Diagnosis, Health, Bias, Gene, Genome, Antibiotics, Medical device, Vaccine, Agriculture, Science

NEW YORK, May 10, 2023 /PRNewswire-PRWeb/ -- Eimear Kenny, PhD, had just completed undergrad and was working in her first computational genomics job more than 20 years ago when scientists announced the first (nearly) complete sequencing of the human genome—what was considered at the time to be the fundamental blueprint for all humans. The Human Genome Project aimed to map the entire genome in an effort to accelerate the diagnosis and eventual treatment of common and rare diseases.

Key Points: 
  • The Human Genome Project aimed to map the entire genome in an effort to accelerate the diagnosis and eventual treatment of common and rare diseases.
  • The work was led by the international Human Pangenome Reference Consortium, a group funded by the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health.
  • "We have had a single human reference for the past 20 years, and this genome reference has been extraordinarily powerful.
  • See press release issued by the National Human Genome Research Institute (NHGRI) of the National Institutes of Health: https://www.genome.gov/news/news-release/scientists-release-a-new-human-...

Researchers study enhanced genetic animal model of Down syndrome

Retrieved on: 
Tuesday, March 14, 2023
Learning, Down syndrome, Cognition, National Human Genome Research Institute, Memory, Mouse, Bangladesh Technical Education Board, Human, Behavior, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Biological Psychiatry (journal), National Institutes of Health, Gene, Genetics, NHGRI, Medical device

WASHINGTON, March 14, 2023 /PRNewswire/ -- National Institutes of Health researchers compared a new genetic animal model of Down syndrome to the standard model and found the updated version to be more similar to the changes seen in humans. The new mouse model shows milder cognitive traits compared to a previously studied Down syndrome mouse model. The results of this study, published in Biological Psychiatry, may help researchers develop more precise treatments to improve learning and memory in people with Down syndrome.

Key Points: 
  • WASHINGTON, March 14, 2023 /PRNewswire/ -- National Institutes of Health researchers compared a new genetic animal model of Down syndrome to the standard model and found the updated version to be more similar to the changes seen in humans.
  • The new mouse model shows milder cognitive traits compared to a previously studied Down syndrome mouse model.
  • The results of this study, published in Biological Psychiatry , may help researchers develop more precise treatments to improve learning and memory in people with Down syndrome.
  • Scientists often use different strains of mice as animal models to study human diseases because most genes in humans have similar counterparts in mice.

23andMe Reports FY2023 Third Quarter Financial Results

Retrieved on: 
Wednesday, February 8, 2023
Lijun International Pharmaceutical (Holding) Co. Ltd., Genetics, Machine learning, Annual general meeting, Marketing, PGS, Research, Telehealth, Food, American Society of Human Genetics, Food and Drug Administration, Family, Tax, Society, ASH, Squamous cell carcinoma, Advertising, ATM, Marker beacon, Wilms' tumor, Webcast, Society for Immunotherapy of Cancer, Immunotherapy, Genome, Human genetics, CD200R1, Drug development, EBITDA, Ashkenazi Jews, SAN, National Human Genome Research Institute, Clinical trial, Keith Lemon's LemonAid, FDA, Agricultural Research Service, Consumer service, GSK, Asthma, Interim, Growth, ASHG, Johns Hopkins, SITC, NHGRI, Therapy, Simvastatin, Pharmaceutical industry, Central Europe, Adjustment

SOUTH SAN FRANCISCO, Calif., Feb. 08, 2023 (GLOBE NEWSWIRE) -- 23andMe Holding Co. (Nasdaq: ME) (23andMe), a leading human genetics and biopharmaceutical company with a mission to help people access, understand, and benefit from the human genome, today reported its financial results for the third quarter (Q3) of its fiscal year 2023 (FY2023), which ended December 31, 2022. 23andMe is the only company with multiple U.S. Food and Drug Administration (FDA) authorizations for over-the-counter genetic health risk reports, and in particular the only company the FDA has authorized to provide, without physician involvement, genetic cancer risk reports and medication insights on how individuals may process certain commonly prescribed medications based on their genetics. The Company has also created the world’s largest crowdsourced platform for genetic research, which it is using to pursue drug discovery programs rooted in human genetics across a spectrum of disease areas.

Key Points: 
  • These reports are developed by 23andMe scientists using data and insights gathered from thousands of customers who have consented to participate in our research.
  • “Our fiscal third quarter results reflect solid revenue growth in our consumer business, despite the macro-economic headwinds, and give us confidence to raise our full year financial guidance,” said Joe Selsavage, Interim Chief Financial and Accounting Officer of 23andMe.
  • 23andMe is raising its full year guidance following Q3 FY2023 results.
  • 23andMe will host a conference call at 4:30 p.m. Eastern Time on Wednesday, February 8, 2023 to discuss the financial results for Q3 FY2023 and report on business progress.

Life Science Tools Global Market Report 2022: Increased Government Funding For Life Science Technologies Boosts Growth - ResearchAndMarkets.com

Retrieved on: 
Friday, January 6, 2023
Biotechnology, Health, Science, Other Science, Research, Government, Biomedical Advanced Research and Development Authority, RNA, Infection, NHGRI, Extranodal NK/T-cell lymphoma, nasal type, TCR, AFA, 3D, Research, COVID-19, DNA, USD, Genomics, CAR, Growth, NK, Development, EUA, Cell biology, B cell, D, Investment, FDA, Hospital, National Human Genome Research Institute, Organization, The National, NIH, Eua Sunthornsanan, Workflow, Diagnosis, ID, BARDA, Renewable energy, Fine chemical, Pharmaceutical industry, Proteomics

The global life science tools market size is expected to reach USD 248.05 billion by 2030, expanding at a CAGR of 6.95% from 2022 to 2030.

Key Points: 
  • The global life science tools market size is expected to reach USD 248.05 billion by 2030, expanding at a CAGR of 6.95% from 2022 to 2030.
  • This growth can be attributed to a rise in government funding for life science technologies, demand for cell and gene therapies, an increase in the adoption of biopharmaceuticals, and growing competition among prominent companies in the market.
  • Additionally, the life science tools industry is expanding based on the increasing investments by the government for the advancement of research and technologies.
  • Thus, the increase in government funding for life science research as well as technologies is expected to drive the market in the coming years.

New Report Examines Diversity in the Human Genetics and Genomics Workforce

Retrieved on: 
Thursday, November 10, 2022
Professional Services, DEI (Diversity, Equity and Inclusion), Other Consumer, Health, Consumer, Genetics, Disease, Head, NHGRI, Gender identity, American College of Medical Genetics and Genomics, Doctor of Philosophy, Workforce, National Human Genome Research Institute, National Association of Professors of Hebrew, Alaska Natives, Partnership, American College, Research, Education, Organization, Society, Association, Genetic counseling, Genetics, National Society, ACMG, Culture, Senior counsel, National, NSGC, Climate, National Society of Genetic Counselors, American Society of Human Genetics, Medical genetics, ASHG, Human genetics, Diversity, Rotimi, Workplace, American Board of Commissioners for Foreign Missions, White, Employment, Creative industries, Agriculture, Genomics

The American Society of Human Genetics (ASHG) today released the Human Genetics & Genomics Workforce Survey Report, which takes an in-depth look at the fields workforce demographics, including race, ethnicity, or ancestry; gender identity; sexual orientation; age; disability status; and disadvantaged background.

Key Points: 
  • The American Society of Human Genetics (ASHG) today released the Human Genetics & Genomics Workforce Survey Report, which takes an in-depth look at the fields workforce demographics, including race, ethnicity, or ancestry; gender identity; sexual orientation; age; disability status; and disadvantaged background.
  • This report represents a collaborative and critical step the genetics and genomics professional societies have undertaken to survey our field, Rotimi said.
  • The genetics and genomics workforce is predominantly homogeneous with 67.0% of respondents identifying their race, ethnicity, or ancestry as White.
  • Founded in 1948, the American Society of Human Genetics is the primary professional membership organization for human genetics specialists worldwide.

PacBio Collaborates with Leading Researchers to Establish Long-Read Variant Frequency Consortium

Retrieved on: 
Tuesday, October 18, 2022
U.S. Securities and Exchange Commission, Infection, High fidelity, Microbiology, Disease, Prevalence, Genetic variation, Laboratory, Genomics, NASDAQ, National, Research, Security (finance), National Human Genome Research Institute, Johns Hopkins University, Technology, Private Securities Litigation Reform Act, Solution, Data science, NHGRI, Color, Consortium, Securities Exchange Act of 1934, University, Gregor, SBB, Pacific Biosciences, Genome, Database, Anvil, Pharmaceutical industry, Medical imaging, Abraxis BioScience

MENLO PARK, Calif., Oct. 18, 2022 /PRNewswire/ -- PacBio (NASDAQ: PACB), a leading developer of high-quality, highly accurate sequencing solutions, today announced the creation of the Consortium for Long Read Sequencing (CoLoRS) that aims to accelerate the utility of long-read human genome datasets. CoLoRS is an open coalition of international researchers focused on creating a comprehensive database of frequency information for all classes of human variation identified using long-read human whole-genome sequencing. High quality long-read data can characterize genetic variation inaccessible to short-read sequencing. As such, CoLoRS plans to critically complement existing databases, help improve the discovery of pathogenic variation, and advance the understanding of the genomic underpinnings of rare disease, where more than half of cases remain unexplained even after short-read genome sequencing. 

Key Points: 
  • CoLoRS is an open coalition of international researchers focused on creating a comprehensive database of frequency information for all classes of human variation identified using long-read human whole-genome sequencing.
  • "PacBio is proud to collaborate with these innovative investigators to build this much needed resource for the genomics research community," said Edd Lee, Director of Human Genomics Segment Marketing at PacBio.
  • "Population frequency is a key tool for interpreting genetic variation.
  • Pre-existing datasets provided by consortium members will comprise the initial set of genomes, which will be processed and cataloged using trusted and standardized analysis pipelines.