Name: Finding our Inner Neanderthal: Evolutionary Geneticist Svante Pääbos DNA Quest @genometv
Uploaded: 2026-09-21T08:17:00-05:00
Duration: 8 min 17 s
Description: Finding our Inner Neanderthal: Evolutionary Geneticist Svante Pääbos DNA Quest

Finding our Inner Neanderthal: Evolutionary Geneticist Svante Pääbos DNA Quest

National Human Genome Research Institute 2026-09-21 | Finding our Inner Neanderthal: Evolutionary Geneticist Svante Pääbos DNA Quest

The Clinical Geneticist Workforce: Challenges and Opportunities (Listening Session 2)

National Human Genome Research Institute 2023-08-04 | August 2, 2023 - The National Human Genome Research Institute (NHGRI) conducts the second of three Zoom-based “listening sessions” to help gather information from the national genetics and genomics community regarding the current and future state of the clinical geneticist workforce. These sessions help NHGRI understand the community’s views regarding key challenges and potential solutions in clinical genetics and genomics, as well as to determine possible next steps to further discuss this topic.

Co-Moderators:

Benjamin Solomon, M.D.
Clinical Director, NHGRI

Debra Regier, M.D.
Interim Chief, Children's National Rare Disease

The co-moderators will facilitate discussions regarding a set of questions related to the primary topic, but we encourage participants to provide open feedback on all topics that relate to important geneticist workforce issues.

Learn More: genome.gov/event-calendar/the-clinical-geneticist-workforce-challenges-and-opportunities

Chapters:
0:00 - Introduction/Logistics (Ben Solomon)
4:44 - Welcome (Eric Green)
11:26 - Start of Moderated Discussion (Ben Solomon and Debra Regier)
12:15 - Key Barriers to the Growth and Evolution of Geneticist Workforce
37:07 - Roles of Future Geneticists
53:33 - Strategies to Promote Diverse and Growing Workforce
59:00- Next Steps

The Clinical Geneticist Workforce: Challenges and Opportunities (Listening Session 1)

National Human Genome Research Institute 2023-07-21 | July 17, 2023 - The National Human Genome Research Institute (NHGRI) conducts the first of three Zoom-based “listening sessions” to help gather information from the national genetics and genomics community regarding the current and future state of the clinical geneticist workforce. These sessions help NHGRI understand the community’s views regarding key challenges and potential solutions in clinical genetics and genomics, as well as to determine possible next steps to further discuss this topic.

Co-Moderators:

Benjamin Solomon, M.D.
Clinical Director, NHGRI

Debra Regier, M.D.
Interim Chief, Children's National Rare Disease

Wendy Chung, M.D., Ph.D.
Clinical and Molecular Geneticist and Chief of Department of Pediatrics, Boston Children's Hospital

Shoumita Dasgupta, Ph.D.
Associate Professor of Medicine / Assistant Dean of Admissions / Director of Graduate Studies in Genetics, Boston University School of Medicine

The co-moderators will facilitate discussions regarding a set of questions related to the primary topic, but we encourage participants to provide open feedback on all topics that relate to important geneticist workforce issues.

Learn More: genome.gov/event-calendar/the-clinical-geneticist-workforce-challenges-and-opportunities

Chapters:
0:00 - Introduction/Logistics (Ben Solomon)
4:43 - Welcome (Eric Green)
9:24 - Start of Moderated Discussion (Ben Solomon and Wendy Chung)
10:30 - Key Barriers to the Growth and Evolution of Geneticist Workforce
28:57 - Roles of Future Geneticists
44:31 - Strategies to Promote Diverse and Growing Workforce
52:17 - Next Steps

Squishy sea creature vomits aging cells

National Human Genome Research Institute 2023-07-05 | National Human Genome Research Institute (NHGRI) researchers studied how Hydractinia symbiolongicarpus, a small, tube-shaped animal that lives on the shells of hermit crabs, regenerates an entire new body from only its mouth. Just as the Hydractinia were beginning to regenerate new bodies, the researchers sequenced RNA from the animals and detected a molecular signature associated with the biological process of aging.

Learn more:
genome.gov/news/news-release/scientists-discover-clues-to-aging-and-healing-from-a-squishy-sea-creature

Science writer: Anna Rogers, NHGRI
Producer: Alvaro Encinas, NHGRI

Squishy sea creature vomits aging cells

NHGRI DIR Seminar Series - Malik Harmit

National Human Genome Research Institute 2023-06-29 | Full Title: Genetic conflicts during meiosis shape the rapid evolution of essential chromatin proteins

June 22, 2023 - Dr. Malik studies genetic conflict between genes and proteins with opposing functions that drives evolutionary change, with implications for a range of diseases. He also studies the evolutionary processes that drive our body’s interactions with viruses, including contemporary diseases as well as ancient viruses whose fossils litter our genome. With colleagues, he has characterized the rapidly evolving interface between proteins on human cells and viruses that make us sick. This work has highlighted surprising deviations from “textbook” models of these interactions, and it is revealing gene variants that could influence our susceptibility to infection.

About the National Human Genome Research Institute (NHGRI) Division of Intramural Research (DIR) Seminar Series: The NHGRI DIR Seminar Series sponsors a monthly series of talks by intramural and special guest speakers celebrating genetics and genomics research. Speakers are selected by NHGRI intramural faculty and trainees and cover research topics of interest to a wide audience.

Relevant Links:
DIR Seminar Series: genome.gov/dir/seminars
Harmit Malik (Fred Hutch): fredhutch.org/en/faculty-lab-directory/malik-harmit.html

Global Genetics and Genomics Community: Interactive Cases

National Human Genome Research Institute 2023-06-13 | June 8, 2023 - The Global Genetics and Genomics Community (G3C) is a series of online, interactive, filmed, simulated patient case studies that address a variety of evidence-based genomic applications. Including cases from pediatrics to adults, the interactive modules provide genomics education to healthcare providers. At the start of this webinar event, a pre-recorded video provides an overview of G3C, the scope of the cases, and the various ways in which G3C has been used in academic and clinical practice continuing education settings. In addition, the latest case, “Autism Spectrum Disorder and Vaccines”, which is being launched during the 2023 Health Professionals’ Genomic Education Week, is introduced.

At the end of the video presentation, genomics experts were available during a live Q&A.

Presenters:

Yi Liu, M.S., CGC
Genetic Counselor
Genetics Branch, Center for Cancer Research, National Cancer Institute

Kathleen Calzone, Ph.D., RN, AGN-BC, FAAN
Research Geneticist
Genetics Branch, Center for Cancer Research, National Cancer Institute

About Healthcare Professionals' Genomics Education Week: genome.gov/HPGE-Week

#MedGeneEd23

HPGE Week - Nursing Genomics Frequently Asked Questions: Expert Commentaries

National Human Genome Research Institute 2023-06-13 | June 7, 2023 - The NHGRI ISCC-PEG Nursing Genomics Project Group hosts a webinar that begins pre-recorded video of nursing genomics experts answering questions frequently posed by the public and entry-level nurses, as well as by advanced-practice nurses (practitioners and educators).

Questions include:

- Why is genomics important for nurses and in which practice settings can it be used?
- What is the role of a nurse practitioner as it relates to genetics and genomics?
- How can nurse practitioners be prepared to respond when patients share DTC results?
- Where is genomics included in the American Association of Colleges of Nursing (AACN) Essentials?
- How can genomic competency be assessed?

The recorded responses to these questions expand upon topics included in the “Nursing Genomics FAQ” resource posted on: genome.gov/nursing-genomics.

About Healthcare Professionals' Genomics Education Week: genome.gov/HPGE-Week

#MedGeneEd23

Genetic Testing and Disability bias in prenatal care

National Human Genome Research Institute 2023-06-13 | June 5, 2023 - ISCC-PEG Direct to Consumer Genetic Testing (DTC GT) Project group members discuss updates about DTC-GT and engage with the audience. The session will describe the current DTC-GT landscape and suggest steps to manage DTC GT results through patient scenarios.

Panelists:

Houriya Ayoubieh, M.D., FACMG
Texas Tech University Health Sciences Center El Paso
ISCC-PEG DTC-GT Project Group Co-Chair

Tracey Weiler, Ph.D.
Herbert Wertheim College of Medicine
Florida International University
ISCC-PEG DTC-GT Project Group Co-Chair

Kathryn Garber, Ph.D.
Emory University

Heewon Lee, M.S., CGC
University of Minnesota Genetic Counseling

Nguyen Park, DMSc, M.S., PA-C, DFAAPA
Society of PAs in Genetics & Genomics

Katherine Hyland, Ph.D.
University of California, San Francisco School of Medicine

Roseann S. Gammal, Pharm.D., BCPS
Massachusetts College of Pharmacy and Health Sciences

Christine M. Formea, Pharm.D., BCPS, FCCP, FASHP
Intermountain Healthcare Precision Genomics

About Healthcare Professionals' Genomics Education Week: genome.gov/HPGE-Week

#MedGeneEd23

Introducing the ISCC-PEG Pharmacogenomics Learning Series

National Human Genome Research Institute 2023-06-13 | June 6, 2023 - The NHGRI ISCC-PEG Pharmacogenomics Project Group hosts a webinar titled, "Introducing the NIH Inter-Society Coordinating Committee for Practitioner Education in Genomics (ISCC-PEG) Pharmacogenomics Learning Series: New Peer-Reviewed Online Education for Healthcare Professionals".

Educational barriers limit broader application of pharmacogenomics to improve medication outcomes. This brief webinar will reenforce the importance of educating the healthcare professions towards genomics competency and will announce new online educational offerings. The Pharmacogenomics (PGx) Project Group of NHGRI ISCC-PEG is proud to launch a series of peer-reviewed educational activities to support healthcare practitioners integrating pharmacogenomics effectively in clinical practice. The activities can be taken independently either free of charge or for continuing education credit depending upon the learner’s needs. The content is reviewed annually and is hosted online by the University of Pittsburgh.

Presenters:

Philip Empey, Pharm.D., Ph.D.
Co-Chair, PGx Project Group of ISCC-PEG
Associate Professor, Department of Pharmacy and Therapeutics
University of Pittsburgh School of Pharmacy

Roseann S. Gammal, Pharm.D., BCPS
Co-Chair, PGx Project Group of ISCC-PEG
Associate Professor of Pharmacy Practice
Massachusetts College of Pharmacy and Health Sciences

About the ISCC-PEG Pharmacogenomics Learning Series: genome.gov/ISCC-PEG/pharmacogenomics-learning-series
About Healthcare Professionals' Genomics Education Week: genome.gov/HPGE-Week

Chapters:
0:00 - Introduction
1:07 - Learning Objectives
1:30 - What is Pharmacogenoics (PGx)?
2:04 - The Goal of PGx
2:46 - PGx Variation is Common
3:20 - Evidence-based PGx Resources
6:03 - The Current PGx Landscape
10:38 - Competency Standards
12:00 - The Availability of Education
13:25 - What is the ISCC-PEG?
14:48 - ISCC-PEG Project Groups
15:15 - PGx Project Group Goals
16:23 - Develop ISCC-PEG PGx Learning Series
17:05 - 9 PGx education modules, peer-reviewed
18:10 - Self-paced, accessible on-demand
18:48 - Highly interactive with cases and debriefs
19:57 - Disseminated with continuing education
23:04 - Q&A Session

#MedGeneEd23

A Guide to Pharmacogenomic Resources: What Clinicians Should Know

National Human Genome Research Institute 2023-06-13 | June 6, 2023 - As a part of Healthcare Professionals' Genomics Education Week, the NHGRI ISCC-PEG Pharmacogenomics Project Group hosts brief overview for clinicians describing how to utilize freely available pharmacogenomic resources such as the Clinical Pharmacogenetics Implementation Consortium’s (CPIC) detailed gene/drug clinical practice guidelines and PharmGKB, a pharmacogenomics knowledge resource.

Presenters:

Kelly E. Caudle, Pharm.D., Ph.D, BCPS
Pharmacogenomics CPIC Co-PI and Director Department of Pharmacy and Pharmaceutical Sciences
St. Jude Children’s Research Hospital, Memphis, TN

Michelle Whirl-Carrillo, Ph.D.
Pharmacogenomics PharmGKB Co-PI and Director
CPIC Informatics Co-Director Department of Biomedical Data Science
Stanford University, Stanford, CA, USA

Learn more about Healthcare Professionals' Genomics Education Week: genome.gov/HPGE-Week

#MedGeneEd23

Direct-to-Consumer Genetic Testing: Update and Cases

Clinical Pearls in Pharmacogenomics Implementation

National Human Genome Research Institute 2023-06-13 | June 6, 2023 - The presentation, hosted by the NHGRI ISCC-PEG Pharmacogenomics Project Group, discusses lessons learned from implementing clinical pharmacogenomics on an institution-wide basis. Topics include adapting to a new EHR system, process of reporting incidental findings linked to pharmacogenes and updating pharmacogenomic test results.

Presenter:

Cyrine-Eliana Haidar, Pharm.D., BCPS, BCOP, FASHP
Clinical Pharmacogenomics Senior Program Manager
St. Jude Children's Research Hospital

About Healthcare Professionals' Genomics Education Week: genome.gov/HPGE-Week

#MedGeneEd23

How can genomic competency be assessed?

National Human Genome Research Institute 2023-06-02 | Rebecca A. Kronk, Ph.D., MSN, CRNP, ANEF, FAAN, CNE, Professor and Associate Dean for Academic Affairs in the School of Nursing at Duquesne University discusses ways in which genomic competency can be assessed.

Genomics FAQ for Advanced-Practice Nurses: Nurse Educators: genome.gov/nursing-genomics/nurse-educators
Nursing Genomics FAQs: genome.gov/nursing-genomics

Credits:
Writers: Donna Messersmith, NHGRI and ISCC-PEG Nursing Genomics Project Group
Zoom Webinars: Jerryl Somani, NHGRI
Producer/Videographer/Animator/Editor: Alvaro Encinas, NHGRI
Graphics: Darryl Leja, NHGRI
Narrator (Questions): Yewande Komolafe, NHGRI
Assistant Producer: Mukul Nerurkar, NHGRI

Why is genomics important for nurses and in which practice settings can it be used?

National Human Genome Research Institute 2023-06-02 | Sarah L. Dewell, Ph.D., M.Sc., RN, Assistant Professor, School of Nursing, University of Northern British Columbia explains why genomics is important for nurses and in which practice settings it can be used.

Nursing Genomics FAQ: Entry Level Nurses: genome.gov/nursing-genomics/entry-level
Nursing Genomics FAQ: genome.gov/nursing-genomics

Credits:
Writers: Donna Messersmith, NHGRI and ISCC-PEG Nursing Genomics Project Group
Zoom Webinars: Jerryl Somani, NHGRI
Producer/Videographer/Animator/Editor: Alvaro Encinas, NHGRI
Graphics: Darryl Leja, NHGRI
Narrator (Questions): Yewande Komolafe, NHGRI
Assistant Producer: Mukul Nerurkar, NHGRI

Where is genomics included in the American Association of Colleges of Nursing (AACN) Essentials?

National Human Genome Research Institute 2023-06-02 | Deborah O. Himes, Ph.D., APRN-BC, Associate Professor, College of Nursing, Brigham Young University explains where genomics is included in the American Association of Colleges of Nursing (AACN) Essentials.

Genomics FAQ for Advanced-Practice Nurses: Nurse Educators: genome.gov/nursing-genomics/nurse-educators
Nursing Genomics FAQs: genome.gov/nursing-genomics

Credits:
Writers: Donna Messersmith, NHGRI and ISCC-PEG Nursing Genomics Project Group
Zoom Webinars: Jerryl Somani, NHGRI
Producer/Videographer/Animator/Editor: Alvaro Encinas, NHGRI
Graphics: Darryl Leja, NHGRI
Narrator (Questions): Yewande Komolafe, NHGRI
Assistant Producer: Mukul Nerurkar, NHGRI

What is the role of a nurse practitioner as it relates to genetics and genomics?

National Human Genome Research Institute 2023-06-02 | Anne L. Ersig, Ph.D., RN, Assistant Professor, School of Nursing, UW–Madison describes the role of a nurse practitioner as it relates to genetics and genomics.

Genomics FAQ for Advanced-Practice Nurses: Nurse Practitioners: genome.gov/nursing-genomics/nurse-practitioners
Nursing Genomics FAQs: genome.gov/nursing-genomics

Credits:
Writers: Donna Messersmith, NHGRI and ISCC-PEG Nursing Genomics Project Group
Zoom Webinars: Jerryl Somani, NHGRI
Producer/Videographer/Animator/Editor: Alvaro Encinas, NHGRI
Graphics: Darryl Leja, NHGRI
Narrator (Questions): Yewande Komolafe, NHGRI
Assistant Producer: Mukul Nerurkar, NHGRI

How can nurse practitioners be prepared to respond when patients share DTC results?

National Human Genome Research Institute 2023-06-02 | Trina K. Walker, DNP, APRN, FNP-C, Assistant Professor, Creighton University, College of Nursing discusses ways that nurse practitioners can be prepared to respond when patients share direct-to-consumer (DTC) results.

Genomics FAQ for Advanced-Practice Nurses: Nurse Practitioners: genome.gov/nursing-genomics/nurse-practitioners
Nursing Genomics FAQs: genome.gov/nursing-genomics

Credits:
Writers: Donna Messersmith, NHGRI and ISCC-PEG Nursing Genomics Project Group
Zoom Webinars: Jerryl Somani, NHGRI
Producer/Videographer/Animator/Editor: Alvaro Encinas, NHGRI
Graphics: Darryl Leja, NHGRI
Narrator (Questions): Yewande Komolafe, NHGRI
Assistant Producer: Mukul Nerurkar, NHGRI

NHGRI ISCC-PEG Nursing Genomics Experts: Questions and Answers

National Human Genome Research Institute 2023-06-02 | The Nursing Genomics Project Group of the Inter-Society Coordinating Committee for Practitioner Education in Genomics (ISCC-PEG) has created a Nursing Genomics Frequently Asked Questions (FAQ) resource designed for three target audiences in the nursing profession: 1) Entry-Level Nurses, 2) Advanced-Practice Nurse Practitioners, and 3) Advanced-Practice Nurse Educators. This FAQ was designed to answer questions regarding how nurses integrate genomics into their education and practice.

Learn More: genome.gov/nursing-genomics

Credits:
Writers: Donna Messersmith, NHGRI and ISCC-PEG Nursing Genomics Project Group
Zoom Webinars: Jerryl Somani, NHGRI
Producer/Videographer/Animator/Editor: Alvaro Encinas, NHGRI
Graphics: Darryl Leja, NHGRI
Narrator (Questions): Yewande Komolafe, NHGRI
Assistant Producer: Mukul Nerurkar, NHGRI

DNA Origami Challenge: Eric Vs. Cardboard Eric

National Human Genome Research Institute 2023-05-31 | To celebrate DNA Day, NHGRI’s Director Eric Green decided to challenge his toughest competitor, Cardboard Eric, to see who could fold our DNA origami the fastest. Take a look to see who won!

You can also partake in your own DNA origami challenge! You may recognize DNA as one of the most well-known biological structures. But what better way to understand the actual twists, turns and rules of base-pairing than to make your own 3D origami model?

Download and print a copy of NHGRI’s DNA origami, and then watch our instructional video to learn how to fold it! genome.gov/DNAorigami.

Credits:
Producer/Writer/Director: Jenny Montooth, M.A., NHGRI
Producer/Videographer/Animator/Editor: Ernesto Del Aguila III, NHGRI
Cameraperson/Prop Design: Darryl Leja, NHGRI
Director/Executive Producer: Sarah Bates, M.A., M.S., NHGRI

ELSI Research and the New NIH Data Management and Sharing (DMS) Policy Webinar

National Human Genome Research Institute 2023-05-25 | May 23, 2023 - The National Human Genome Research Institute hosts an informational webinar, ELSI Research and the New NIH Data Management and Sharing (DMS) Policy. The webinar focus on topics such as: Overview of the NIH Data Sharing Management Policy; Application of the DMS Policy to ELSI Research; and Data sharing templates and resources. A question and answer session follows the webinar.

Webinar Agenda: genome.gov/event-calendar/elsi-research-new-nih-dms-policy-webinar
ELSI Research Program: genome.gov/ELSI
NHGRI’s Data Sharing Policies and Expectations: genome.gov/data-sharing

Developing Novel Theory and Methods for Understanding the Genetic Architecture of Complex Traits

National Human Genome Research Institute 2023-05-24 | Presenter: Alexander Arguello

The National Human Genome Research Institute will hold the 99th Meeting of National Advisory Council for Human Genome Research from May 13, 2023.

Open Session Agenda: genome.gov/event-calendar/99th-Meeting-of-National-Advisory-Council-for-Human-Genome-Research

Introduction of New Council Members, NHGRI Staff, Liaisons and Guests (NACHGR May 2023)

National Human Genome Research Institute 2023-05-23 | The National Human Genome Research Institute will hold the 98th Meeting of National Advisory Council for Human Genome Research from May 13, 2023.

Open Session Agenda: genome.gov/event-calendar/99th-Meeting-of-National-Advisory-Council-for-Human-Genome-Research

NHGRI Intramural Research Program Report - Charles Rotimi

Genomic-Enabled Learning Health Systems - Robb Rowley

National Human Genome Research Institute 2023-05-23 | The National Human Genome Research Institute will hold the 99th Meeting of National Advisory Council for Human Genome Research from May 13, 2023.

Open Session Agenda: genome.gov/event-calendar/99th-Meeting-of-National-Advisory-Council-for-Human-Genome-Research

NACHGR Special Announcements (May 2023)

Council-Initiated Discussion - Conflict of Interest Statement (NACHGR May 2023) - Rudy Pozzatti

NHGRI Intramural Research Program Blue-Ribbon Panel Report - Gail Jarvik, Lynn Jorde

Update on the H3Africa Program - Jennifer Troyer

NACHGR Director Report (May 2023) - Eric Green

National Human Genome Research Institute 2023-05-23 | The National Human Genome Research Institute will hold the 98th Meeting of National Advisory Council for Human Genome Research from February 13, 2023.

Open Session Agenda: genome.gov/event-calendar/99th-Meeting-of-National-Advisory-Council-for-Human-Genome-Research
Director's Report: genome.gov/event-calendar/99th-Meeting-of-National-Advisory-Council-for-Human-Genome-Research/Directors-Report

NASEM Report on the Use of Race, Ethnicity and Ancestry as Population Descriptors (May 2023)

National Human Genome Research Institute 2023-05-23 | Presenters: Aravinda Chakravarti and Charmaine Royal

The National Human Genome Research Institute will hold the 99th Meeting of National Advisory Council for Human Genome Research from May 13, 2023.

Open Session Agenda: genome.gov/event-calendar/99th-Meeting-of-National-Advisory-Council-for-Human-Genome-Research

NHGRI DIR Seminar Series - Rasmus Nielsen

National Human Genome Research Institute 2023-05-08 | Full Title: Natural Selection in the Human Genome

May 4, 2023 - Rasmus Nielsen, Ph.D., studies statistical and population genetic analyses of genomic data, association mapping and methods for detecting natural selection, describing population genetic variation and inferring demography. In this presentation, he talks about his current research concerns about the statistical analysis of next-generation sequencing data in medical and population genetics. He is particularly interested in the molecular basis of evolutionary adaptation.

About the National Human Genome Research Institute (NHGRI) Division of Intramural Research (DIR) Seminar Series: The NHGRI DIR Seminar Series sponsors a monthly series of talks by intramural and special guest speakers celebrating genetics and genomics research. Speakers are selected by NHGRI intramural faculty and trainees and cover research topics of interest to a wide audience.

Relevant Links:
DIR Seminar Series: genome.gov/dir/seminars
Nielsen Research (UC Berkeley): https://vcresearch.berkeley.edu/faculty/rasmus-nielsen

Taking DNA Day to Ghana - Nancy Sey

National Human Genome Research Institute 2023-05-01 | #DNADay23 #NHGRIevents April 25, 2023 - NHGRI-ASHG Genetics and Education Fellow, Nancy Sey discusses how DNA Day is celebrated in Ghana.

NHGRI hosts a symposium to commemorate two special milestones: the 20th anniversary of the Human Genome Project’s completion and the 70th anniversary of the discovery of the DNA double helix.

About the Symposium: genome.gov/DNA-Day-2023
About National DNA Day: genome.gov/DNA-Day

Who is the G.O.A.T.? - Francis Collins vs. Eric Green

National Human Genome Research Institute 2023-05-01 | #DNADay23 #NHGRIevents

April 25, 2023 - Who is the Greatest Of All Times (GOAT) Director? See the final in-person showdown and cast your vote.

NHGRI hosts a symposium to commemorate two special milestones: the 20th anniversary of the Human Genome Project’s completion and the 70th anniversary of the discovery of the DNA double helix.

About the Symposium: genome.gov/DNA-Day-2023
About National DNA Day: genome.gov/DNA-Day

Population Descriptors in Genomics Research - Vence Bonham

National Human Genome Research Institute 2023-05-01 | #DNADay23 #NHGRIevents

April 25, 2023 - NHGRI Acting Deputy Director Vence Bonham, Jr. will lead a discussion about the benefits and challenges of using population descriptors in genomics and biomedical research.

Panelists include:

- Professor of Medical Humanities and Ethics Sandra Soo-Jin Lee, Columbia University
- Assistant Professor of Epidemiology Genevieve Wojcik, Johns Hopkins Bloomberg School of Public Health.

NHGRI hosts a symposium to commemorate two special milestones: the 20th anniversary of the Human Genome Project’s completion and the 70th anniversary of the discovery of the DNA double helix.

About the Symposium: genome.gov/DNA-Day-2023
About National DNA Day: genome.gov/DNA-Day

Careers in Genetics and Genomics

National Human Genome Research Institute 2023-05-01 | #DNADay23 #NHGRIevents April 25, 2023 - Chris Gunter, senior advisor to the director for genomics engagement at NHGRI, facilitates a discussion that showcases the diverse career paths in the field of genomics research.

- Biologist Kevin Bishop, NHGRI.
- Social Media Specialist Jenny Montooth, NHGRI.
- Program Director Stephanie Morris, Division of Genome Sciences, NHGRI.
- Clinical Director Ben Solomon, NHGRI.
- Vice President of Research Joyce Tung, 23andMe
- Genetic Counselor Amy Turriff, NHGRI.

NHGRI hosts a symposium to commemorate two special milestones: the 20th anniversary of the Human Genome Project’s completion and the 70th anniversary of the discovery of the DNA double helix.

About the Symposium: genome.gov/DNA-Day-2023
About National DNA Day: genome.gov/DNA-Day

NHGRI Genomics Ambassador Award Presentation - Sarah Bates

National Human Genome Research Institute 2023-05-01 | #DNADay23 #NHGRIevents April 25, 2023 - Three students from Lime Kiln Middle School in Fulton, Maryland - Shalin Bahl, Julian Amani-Dove and Dhilan Patel - were recognized for advancing to the state level in the 2023 National History Day competition for their display about the Human Genome Project. Sarah Bates, Director, Office of Communications, NHGRI, presents the students with an inaugural NHGRI Genomics Ambassador Award .

NHGRI hosts a symposium to commemorate two special milestones: the 20th anniversary of the Human Genome Project’s completion and the 70th anniversary of the discovery of the DNA double helix.

About the Symposium: genome.gov/DNA-Day-2023
About National DNA Day: genome.gov/DNA-Day

From the HGP to 2023: Genomics Research Across NIH - Eric Green

National Human Genome Research Institute 2023-05-01 | #DNADay23 #NHGRIevents

April 25, 2023 - NHGRI Director Eric Green will moderate a discussion about how the Human Genome Project (HGP) and NHGRI have directly influenced research at other NIH institutes and centers.

Panelists include:

- Director Diana Bianchi, Eunice Kennedy Shriver National Institute of Child Health and Human Development.
- CEO Josh Denny, All of Us Research Program.
- Director Gary Gibbons, National Heart, Lung, and Blood Institute.
- Director Joni L. Rutter, National Center for Advancing Translational Sciences.

NHGRI hosts a symposium to commemorate two special milestones: the 20th anniversary of the Human Genome Project’s completion and the 70th anniversary of the discovery of the DNA double helix.

About the Symposium: genome.gov/DNA-Day-2023
About National DNA Day: genome.gov/DNA-Day

NHGRI National DNA Day 20th Anniversary Symposium: Welcome and introduction - Larry Brody

National Human Genome Research Institute 2023-05-01 | #DNADay23 #NHGRIevents April 25, 2023 - Larry Brody, director of NHGRI's Division of Genomics and Society gives the welcome and introduction

NHGRI hosts a symposium to commemorate two special milestones: the 20th anniversary of the Human Genome Project’s completion and the 70th anniversary of the discovery of the DNA double helix.

About the Symposium: genome.gov/DNA-Day-2023
About National DNA Day: genome.gov/DNA-Day

2023 Louise M. Slaughter National DNA Day Lecture - Francis Collins

National Human Genome Research Institute 2023-05-01 | #DNADay23 #NHGRIevents

April 25, 2023 - Francis Collins delivers the 2023 Louise M. Slaughter National DNA Day Lecture. Collins is Special Advisor to President Biden for Special Projects, former NIH Director and former director of NHGRI who is noted for his leadership of the international Human Genome Project.

NHGRI hosts a symposium to commemorate two special milestones: the 20th anniversary of the Human Genome Project’s completion and the 70th anniversary of the discovery of the DNA double helix.

About the Symposium: genome.gov/DNA-Day-2023
About National DNA Day: genome.gov/DNA-Day

NHGRI DIR Seminar Series - John Greally

National Human Genome Research Institute 2023-04-26 | Full Title: Variation in the non-coding genome and human phenotypes

John M. Greally, Ph.D., D.Med., FACMG, is a professor of genetics and pediatrics at Albert Einstein College of Medicine and an attending physician at Montefiore Medical Center. In this presentation, Dr. Greally talks about the research in his lab, which is based on understanding models of genetic susceptibility to human disease, especially those affecting children. His lab focuses on understanding phenotypes through genetic or environmental influences that change the innate properties of a canonical cell type, or perturbations that alter cell lineage choices during differentiation. As researchers in the field of somatic cellular genomics, the lab studies the normal physiology of transcriptional regulation in mammalian cells as well as mosaic somatic mutations. His lab researches the effects of environmental and genetic influences on stem cell differentiation, with a focus on liver and blood diseases. They also focus on stem cell systems to understand mechanisms of cellular memory and reveal the functional variants in the non-coding majority of the human genome.

About the National Human Genome Research Institute (NHGRI) Division of Intramural Research (DIR) Seminar Series: The NHGRI DIR Seminar Series sponsors a monthly series of talks by intramural and special guest speakers celebrating genetics and genomics research. Speakers are selected by NHGRI intramural faculty and trainees and cover research topics of interest to a wide audience.

Relevant Links:
DIR Seminar Series: genome.gov/dir/seminars
John Greally: https://www.einsteinmed.edu/faculty/4156/john-greally/
Center for Epigenomics at the Albert Einstein College of Medicine: https://www.einsteinmed.edu/centers/epigenomics/
GenomeDiver: genomediver.org
The New York Center for Rare Diseases:

Entry Level Modules (ELM) Webinar for the genomics research workforce: PAR-23-123

National Human Genome Research Institute 2023-04-17 | April 11, 2023 - The National Human Genome Research Institute hosts a webinar to provide an overview of the the Entry-Level Modules (ELM) for Training the Genomics Research Workforce (R25-Clinical Trial Not Allowed) (PAR-23-123) funding opportunity. The purpose of this PAR is to develop, implement, and evaluate modules of genomics-related curriculum for the entry-level biomedical research workforce by supporting lead sites teamed with partner sites, such as community, technical, or tribal colleges. The training modules will be made freely available, at no cost to the broader community.

Agenda: genome.gov/event-calendar/2023-ELM-Webinar
About PAR-23-123: grants.nih.gov/grants/guide/pa-files/PAR-23-123.html

Strawberry DNA Extraction

National Human Genome Research Institute 2023-04-07 | Cells are the basic unit of life and make up all plants, animals and bacteria. Deoxyribonucleic acid, or DNA, is the molecule that controls everything that happens in the cell. DNA contains instructions that direct the activities of cells and, ultimately, the body.

With only a few household items, you can extract DNA from strawberries just about anywhere! Extracting DNA from strawberries is super easy, allowing you to learn about genomics. Join NHGRI Director Eric Green and social media specialist Jenny Montooth as they show you step-by-step how to extract DNA from strawberries using materials available in your kitchen!

Download printable instructions from: genome.gov/strawberry-DNA

Materials needed:
- A resealable plastic bag
- 2 strawberries (fresh or frozen, but remove the green leaves)
- 2 tsp. dish detergent
- 1 tsp. salt
- ½ cup water
- 2 plastic cups
- 1 coffee filter
- ½ cup cold rubbing alcohol
- 1 coffee stirrer
- and 1 scientist (you!)

Steps 1 & 2: Place strawberries in a plastic bag. After closing the bag, SMASH the strawberries for ~2 minutes until nice and smashed!

Step 3: Make DNA extraction solution by adding the following to the first plastic cup:
- 2 tsp. dish detergent
- 1 tsp. salt
- 1/2 cup water

Steps 3 & 4: After gently mixing the extraction solution (until salt is dissolved), pour it into the bag of smashed strawberries.

Step 5: Reseal the bag and *gently* massage and mix the mixture for a minute. Try to avoid making too many soap bubbles!

Steps 6 and 7: Place the coffee filter over the opening of the second plastic cup. open the plastic bag, and pour the liquid onto the coffee filter. Then wait for the liquid to drip through the coffee filter into the plastic cup, leaving the strawberry *schmutz* on the coffee filter.

Step 8: You’re almost there! Pour an equal amount of cold rubbing alcohol into the liquid in the second plastic cup.

Step 9: Gently move the cup around in circles and watch the whitish *snot-like* material form in the upper layer of liquid -- that is the strawberry DNA!

Step 10: Use the coffee stirrer to pick up strawberry DNA out of the liquid.

Credits:
Producer/Writer/Director/Co-Star: Jenny Montooth, M.A., NHGRI
Videographer/Animator/Editor: Ernesto Del Aguila III, NHGRI
Cameraperson/Audio: Alvaro Encinas, NHGRI
Set and Prop Design: Britny Kish, NHGRI
Executive Producer: Sarah Bates, M.A., M.S., NHGRI
Scientist: Eric Green, M.D., Ph.D., NHGRI

Data-driven approaches to define rare genetic diseases

National Human Genome Research Institute 2023-03-28 | March 23, 2023 - This seminar features speakers Melissa Haendel, Ph.D., FACMI, chief research informatics officer and Marsico endowed chair in data science at the University of Colorado Anschutz Medical Campus, and Jessica Chong, Ph.D., assistant professor, Division of Genetic Medicine in the Department of Pediatrics at the University of Washington School of Medicine. They present on data-driven approaches to define rare genetic diseases. Chris Gunter, Ph.D., NHGRI's senior advisor to the director for genomics engagement, introduces the speakers. Lisa H. Chadwick, Ph.D., program director in NHGRI's Division of Genome Sciences, moderates the discussion after the presentation.

About the Genomic Innovator Seminar Series:
The Genomic Innovator Seminar Series is based on its Genomic Innovator Award Program, which supports innovative work by early-career genomics investigators who are part of consortia or other team-science efforts. Each seminar focuses on a specific topic of genomic research by pairing an early-career researcher funded under NHGRI’s Genomic Innovator Award Program with a more senior researcher whose work relates to the research area.

More: genome.gov/event-calendar/genomic-innovator-seminar-series

NHGRI DIR Seminar Series - Cuomo Christina

National Human Genome Research Institute 2023-03-28 | Full Title: Population genomics and the evolution of virulence traits in Cryptococcus neoformans

March 23, 2023 - Christina Cuomo, Ph.D., is the director of the Fungal Genomics Group and associate director in the Genomic Center for Infectious Diseases at the Broad Institute of MIT and Harvard. In this presentation, Dr. Cuomo talks about how her research group uses genomic methods to characterize the evolution of fungal pathogens. Studying species across the fungal kingdom, her work has led to major insights into the unique features of pathogenic species, how genomes evolve, variation with pathogen populations, antifungal drug resistance and genes involved in host interaction. Her current focus is genomic analysis of major human fungal pathogens to better understand the genetic basis of pathogenicity and drug resistance.

About the National Human Genome Research Institute (NHGRI) Division of Intramural Research (DIR) Seminar Series: The NHGRI DIR Seminar Series sponsors a monthly series of talks by intramural and special guest speakers celebrating genetics and genomics research. Speakers are selected by NHGRI intramural faculty and trainees and cover research topics of interest to a wide audience.

Relevant Links:
NHGRI DIR Seminar Series: genome.gov/event-calendar/NHGRI-Division-of-Intramural-Research-Seminar-Series
Christina Cuomo: broadinstitute.org/bios/christina-cuomo
Cryptococcus neoformans, a global threat to human health: rdcu.be/c8At2

ISCC-PEG 12th Annual Meeting: Session 2

National Human Genome Research Institute 2023-03-13 | February 15, 2023 - The Inter-Society Coordinating Committee for Practitioner Education in Genomics (ISCC-PEG) will hold its 12th annual meeting.

Meeting Agenda: genome.gov/event-calendar/ISCC-PEG-12th-annual-meeting-february-2023

Chapters:
0:00 - Introductions (Lawrence Brody)
2:40 - Reviewing Genetics and Genomics Resources for OB-GYN Professionals (Abimbola Oladayo)
17:19 - Q&A (Abimbola Oladayo)
22:29 - Hospital-Level Variation in Genetic Testing in Children's Hospitals NICUs from 2016 to 2021 (Katharine Press Callahan)
37:11 - Q&A (Katharine Press Callahan)
43:04 - Multiple weights off my chest’: Exploring Gender Diverse Experiences of Hereditary Cancer Care (Sarah Roth)
1:04:31 - Q&A (Sarah Roth)
1:10:05 - An Intro to [ELSI] Research Funding (Dave Kaufman)
1:25:33 - NHGRI Research Funding Opportunities (Simona Volpi)
1:38:03 - NHGRI Extramural Grant Opportunities Q&A
1:42:40 - Announcements (Donna Messersmith)

ISCC-PEG 12th Annual Meeting: Session 1

ISCC-PEG 12th Annual Meeting: Session 3

National Human Genome Research Institute 2023-03-13 | February 15, 2023 - The Inter-Society Coordinating Committee for Practitioner Education in Genomics (ISCC-PEG) will hold its 12th annual meeting.

Meeting Agenda: genome.gov/event-calendar/ISCC-PEG-12th-annual-meeting-february-2023

Chapters:
0:00 - Introduction (Donna Messersmith)
1:03 - Nursing Genomics (Trina Walker)
5:01 - Adult Cardiovascular Genomics (Siddharth Prakash)
6:01 - Direct-to-Consumer Genetic Testing (Tracey Weiler)
8:47 - GenomeEd (Donna Messersmith)
10:18 - G3C (Kathleen Calzone)
16:37 - Inclusive Genetics (Maya Sabatello)
22:39 - LGBTQIA+ (Kelsey Bonhert)
24:58 - Rare Disease (Sabrina Malone-Jenkins)
26:57 - OB/GYN Genetics Curriculum (Barbara O'Brien)
29:54 - Pharmacogenomics (Phil Empey)
37:00 - Questions and Suggestions
43:23 - Wrap-Up (Richard Haspel)

NHGRI Genomic Research Consultation Working Group

National Human Genome Research Institute 2023-03-07 | February 16, 2023 -The National Human Genome Research Institute (NHGRI) held a follow-up working group consultation after the 14th Genomic Medicine meeting, Genomic Medicine XIV: Genomic Learning Healthcare Systems.

Agenda: genome.gov/event-calendar/2023-nhgri-genomic-consultation-research-working-group
Meeting Summary: genome.gov/sites/default/files/media/files/2023-03/Genomic_Consultation_Research_WG_meeting_summary.pdf

Chapters:
0:00 - Welcome / Overview of goal and objectives (Renee Rider/Teri Manolio)
1:42 - Introductions: Sharing of Names and Institutions
4:00 - Discussion: Infrastructure (Moderator: Teri Manolio)
49:15 - Discussion: Curating advice for recurring questions (Moderator: Renee Rider)
1:21:56 - Discussion: Evaluating Impact (Moderator: Teri Manolio)
1:49:17 - Summary and Close (Teri Manolio)

How to Sequence a Human Genome in 7 Easy Steps!

National Human Genome Research Institute 2023-03-02 | Join NHGRI researchers at the NIH Intramural Sequencing Center (NISC) as they show you step-by-step how to extract human DNA, sequence it, and interpret the data -- with some fun DNA high jinks along the way.

Step 1: Find a DNA sample. 
Step 2: Isolate the cells by centrifugation. 
Step 3: Extract the DNA from the sample.
Step 4: Load the sample into the sequencer.
Step 5: Wait for the data to be generated.
Step 6: Use the data you have collected to build the genome.
Step 7: Analyze the DNA sequence data for quality.
Done! High five your team!

Learn more about how scientists completed the first complete, gapless sequence of a human genome: genome.gov/T2T

More about The NIH Intramural Sequencing Center (NISC) nisc.nih.gov

**Note: Methods have been oversimplified for communications purposes. Sequencing a full human genome is actually quite challenging!**

Credits:
Producer/Writer/Director: Jenny Montooth, M.A., NHGRI
Videographer/Animator/Editor: Ernesto Del Aguila III, NHGRI
Cameraperson: Darryl Leja, M.A., NHGRI
Audio: Alvaro Encinas, NHGRI
Executive Producer: Sarah Bates, M.A., M.S., NHGRI
Starring: Adam Phillippy, Ph.D., NHGRI
Shelise Brooks, NISC
Sergey Koren, Ph.D., NHGRI
Arang Rhie, Ph.D., NHGRI
Brandon Pickett, Ph.D., NHGRI

Leveraging Genomics to Address Health Disparities in Rare Diseases & Cancer Screenings- C. Jimmy Lin

National Human Genome Research Institute 2023-03-01 | February 16, 2023 - C. Jimmy Lin, M.D., Ph.D., MHS is the Founder and Chief Executive Officer of Rare Genomics (RG) Institute, an international non-profit founded in 2011 to enable any community to leverage cutting-edge biotechnology to advance understanding of rare diseases. Dr. Lin is also the Chief Scientific Officer at Freenome, working on early diagnostic of cancers. Prior to Freenome, he was the Chief Scientific Officer, Oncology at Natera where he led the development of new diagnostic technologies for cancer.

Before his career in private industry, Dr. Lin led the ClinOmics program at the National Cancer Institute (NIH/NCI) and was a research instructor at Washington University in St. Louis. Dr. Lin earned his MD and PhD from Johns Hopkins School of Medicine and a Master of Health Science from the Johns Hopkins Bloomberg School of Public Health, creating genome-wide maps of breast, colorectal, pancreatic, glioblastoma, medulloblastoma, and melanoma cancers, as well as mapping the genome of an anaerobic bacteria that is used as anti-tumor therapy. He is a 2016 Senior TED Fellow and a 2016 WIRED Innovation Fellow and has been featured in several media outlets, including Forbes, Bloomberg, Wall Street Journal, New York Times, Washington Post, BBC, and TIME Magazine.

About the National Human Genome Research Institute (NHGRI) Division of Intramural Research (DIR) Seminar Series: The NHGRI DIR Seminar Series sponsors a monthly series of talks by intramural and special guest speakers celebrating genetics and genomics research. Speakers are selected by NHGRI intramural faculty and trainees and cover research topics of interest to a wide audience.

Relevant Links:
NHGRI DIR Seminar Series: genome.gov/event-calendar/NHGRI-Division-of-Intramural-Research-Seminar-Series