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Human Genome Project leaders release video of virtual reunion

Eric Green, M.D., Ph.D. September 07, 2023

NHGRI will reach another of its many celebrated ‘odometer moments’ this month! The 100th meeting of the National Advisory Council for Human Genome Research (NACHGR)will take place on September 18 and 19, 2023. Three times a year, NHGRI convenes NACHGR, a group of leading genomics experts who advise the institute about all aspects of the institute’s programs. With NHGRI now being more than 33 years old, it is not surprising that the centennial NACHGR meeting would be upon us! The open session of the NACHGR meeting will be videocast live on Monday, September 18. Please join via GenomeTV starting at 10:30 a.m. ET to hear updates about NHGRI and genomics.

The American Society of Human Genetics (ASHG) recently announced that after six years as Chief Executive Officer, Mona Miller will step down from that role on November 15 after the 2023 Annual ASHG Meeting. Mona joined ASHG in July 2017 and has led it through a period of substantial strategic growth and operational transformation, while navigating the unprecedented challenges of the COVID-19 pandemic. A search committee, chaired by ASHG President-elect Bruce Gelb, will work to help identify the next ASHG Chief Executive Officer.

Finally, last month, an international research group reported the generation of the first truly complete sequence of a human Y chromosome. While scientists completed ‘telomere-to-telomere’ sequences for the other 23 human chromosomes last year, more than 50% of the Y chromosome’s sequence remained unknown. With this newly available sequence, researchers are now finding previously unidentified genomic variants on the Y chromosome and, by studying these variants, will be better able to establish how the Y chromosome contributes to human health and disease.

 All the best,

 

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Human Genome Project leaders release video of virtual reunion

G5 webinar screenshot

 

April 2023 marked the 20th anniversary of the completion of the Human Genome Project (HGP) – a major milestone in the history of science. The story of the 13-year HGP is one of great individual and group accomplishments and, in many ways, incredible audacity. At the same time, the HGP consisted of many smaller narratives – some scientific, some political, and some sociological. To capture some aspects of this history, NHGRI recently convened a discussion involving some of the major leaders that got the HGP across the finish line in 2003. That group was dubbed the ‘G5’ and included leaders of the five genome-sequencing centers that produced the largest amount of human genome sequence data.

As the HGP pursued its last (and most difficult) goal – generating the first sequence of a human genome – there were multiple groups around the world contributing to the effort. In fact, by the end of the project, researchers from 20 different countries contributed to the generation of the first human genome sequence. As the pace of human genome sequencing began to ramp up, it was decided that a small group of leaders from the largest genome-sequencing centers would take the lead to ensure that sequencing the human genome was completed in an organized and coherent fashion.

The five centers producing the largest amount of human genome sequence data came together – hence, the name G5. The G5 worked very closely together in the final stage of the HGP to generate most of the human genome sequence, to ensure that the human genome sequence produced was high quality, and to organize the worldwide effort.

The virtual reunion of the G5 leaders aimed to pull back the curtain and allow a glimpse into the true unfettered and untold story of the G5. Moderated by NHGRI Director Eric Green, M.D., PhD., the participants included Jane Rogers, Ph.D., then Head of Sequencing at the Wellcome Trust Sanger Institute (previously known as the Sanger Centre); Michael Morgan, Ph.D., then Chief Executive at the Wellcome Trust; Ari Patrinos, Ph.D., then Director of the Office of Biological and Environmental Research at the US Department of Energy (DOE) and representing the efforts of the DOE Joint Genome Institute; Eric Lander, Ph.D., then Director of the Broad Institute/Whitehead Institute for Biomedical Research (at MIT); Richard Gibbs, Ph.D., Director of the Baylor College of Medicine’s Human Genome Sequencing Center; Bob Waterston, M.D., Ph.D., then Director of Washington University School of Medicine’s Genome Sequencing Center, and Francis Collins, M.D., Ph.D., then NHGRI Director.

Participants recalled their every Friday conference calls to assess sequence data production and other measures of progress. Interactions were often intense, sometimes contentious, but in the long run professional and collegial. There was inherent trust that through the arguments and debates, a unified plan would emerge. The G5 leaders were united to achieve the goal of a freely available human genome sequence.

The G5 had to confront and adjust to important pivotal points for the HGP, especially the establishment of Celera Genomics, a company that aimed to sequence the human genome and compete with the publicly-funded project. During the virtual discussion, the G5 leaders described how they navigated this delicate and difficult situation. They recalled how everyone strongly re-committed to producing a high-quality human genome sequence, even speeding up their efforts in response to the competition, and to making the sequence freely available to everyone (including Celera) not to just those who could pay. There was a strong sense that the main purpose of the HGP was one of public service.

Even though some may think that the HGP was straightforward, it was not. The G5 leaders admitted that, at times, some of them were not entirely sure if a human genome sequence could be generated by the projected end of the HGP. However, those moments of self-doubt melted away as the draft human genome sequence was generated in February 2001, giving optimism that the HGP’s signature goal of generating the first human genome sequence was within reach.

Other notable memories of the G5 leaders included how the mute button on a phone could be liberally used during conference calls when emotions ran high, how international collaborations were central to the success of the HGP, how each person – and institution – had distinct personalities during G5 interactions, how stock markets were vulnerable to scientific news, how certain events caused an interim sense of betrayal for some G5 members, and how important it is to remember G5 colleagues who have passed away.

The discussion of G5 leaders will hopefully show how meticulous organization, trusting collaboration, and steadfast dedication were essential to achieving the audacious goal of generating the first human genome sequence by the HGP. An edited video of this virtual reunion is now available on NHGRI’s YouTube channel, GenomeTV.

ClinGen precision medicine resource celebrates its 10th anniversary

ClinGen logo

 

The Clinical Genome Resource (ClinGen) is an NHGRI-funded resource for centralizing information about the clinical relevance of genes and gene variants. ClinGen recently celebrated its 10th anniversary. By aggregating data from clinicians, patients, and researchers, ClinGen serves an important role in the implementation of genomics medicine and precision medicine. With roughly 40 consortium members and a partnership with ClinVar, ClinGen works to improve data sharing of variant interpretations, create standard frameworks to curate clinically relevant genes and variants, and disseminate their curated results and training materials. Since its founding in 2013, ClinGen has received data from over 2,200 contributors from more than 50 countries. ClinGen’s 10th anniversary will be commemorated through special receptions at the upcoming annual meetings of the American College of Medical Genetics and Genomics and the American Society for Human Genetics.

NHGRI funds educational hub to enhance diversity in genomic data science

People lining up in the formation of a double-helix

 

NHGRI recently awarded North Carolina Agricultural and Technical State University approximately $5.8 million over five years to create a hub that will provide educational opportunities in genomic data science to students of diverse backgrounds, including those from groups that are underrepresented in science. The program will support undergraduate and master’s degree students to help them build foundational knowledge in computational genomics and data science. The educational hub will use cloud computing to enhance access to genomic data, such as through NHGRI’s Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL). 

NHGRI releases resource exploring the use of population descriptors in genomics

Population Descriptors

 

NHGRI supported the National Academies of Sciences, Engineering, and Medicine (NASEM) in their production of a report that reviewed and assessed existing methods, benefits, and challenges in the use of population descriptors in genomics research. As a companion resource, NHGRI staff have created an explainer that summarizes population descriptors and their evolving use in genetics and genomics research. The resource provides an overview of population descriptors, their relationships to genetic ancestry, their use in society in the last few decades, and the importance of using these terms appropriately in genetics and genomics research. The resource includes numerous references and links to further sources for those interested in learning more.

NHGRI hosts 2023 short course in genomics for science educators

Short Course

 

In August, the NHGRI Education and Community Involvement Branch (ECIB) hosted the 2023 Short Course in Genomics for middle school, high school, community college, and tribal college science educators. The virtual course involved 22 new participants and two alumni from across the United States. The annual course provides an opportunity for science educators to hear live lectures, engage in discussion, and receive teaching resources from leading NIH researchers, clinicians, and staff. This year, the program also featured external collaborators, including the DNA Learning Center at Cold Spring Harbor Laboratory and the Smithsonian Environmental Research Center. Middle school, high school, community college, or tribal college science educators who are interested in applying to next summer’s Short Course in Genomics should visit the course’s website. The application process will open in February 2024.

Genomic Research Spotlight

Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis
Tenney et al.
Nature Genetics. 2023 Jun;55, 1149–1163 PMC10335940

 

Hereditary congenital facial paresis type 1 (HCFP1) is rare disorder in which people have no or limited facial movements. People with this condition often have difficulty eating and communicating. Previously, researchers found that variants in chromosome 3 were associated with HCFP1 but could not pinpoint the disease-causing in the implicated genomic region. In this paper, researchers at NHGRI, Boston Children’s Hospital, and Icahn School of Medicine successfully found single nucleotide variants located in regulatory sequences, rather than protein-coding sequences, that are found in patients with HCFP1. These variants regulate the activity of a gene called GATA2, a gene known to be important for brain stem development. These findings demonstrate the importance of looking at the entire genome, not just the parts that code for protein, when searching for the cause of a highly heritable disease.

 

This research was supported by the NHGRI Intramural Research Program in the laboratory of Francis Collins, M.D., Ph.D., head of the Molecular Genetics Section.

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A monthly update from the NHGRI Director on activities and accomplishments from the institute and the field of genomics.

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Last updated: September 7, 2023