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History of Genomics Program launches virtual exhibits

Eric Green, M.D., Ph.D. November 06, 2024

It’s been a hectic and productive autumn for both me and NHGRI! Last month, I was delighted to give talks at two major meetings. First, I spoke at the 3rd International Conference for Newborn Sequencing in New York City; followed by a symposium in Toronto associated with the presentation of the 2024 Canada Gairdner Awards, which this year recognized the work of several pioneers of next-generation sequencing technologies.

Meanwhile, we are now in the midst of the 2024 American Society for Human Genetics (ASHG) Annual Meeting in Denver, Colorado. NHGRI and several other NIH institutes have exhibit booths, and I will be at the NHGRI booth on November 6th and November 8th from 2-4 p.m. If you are attending the meeting, stop by and say hello!

The 16th Genomic Medicine Meeting will be held next month on December 12-13.  This year’s meeting focuses on host genomics and infectious disease. The aim of this meeting, which is co-hosted by NHGRI and the National Institute of Allergy and Infectious Diseases (NIAID), is to identify current obstacles and opportunities in applying genomics to infectious disease research and clinical care. While registration has closed for in-person attendance, you can still register to attend virtually, and much of the meeting will be broadcast live on GenomeTV.

NHGRI is now seeking nominations for the 2024 Bettie J. Graham Leadership Award for Enhancing Diversity, Equity, Inclusion, and Accessibility (DEIA) in the Genomics Workforce. Each year, the award seeks to recognize the efforts of both NHGRI staff and extramural researchers who have centered DEIA in their work. More information about the award can be found on the FAQ page, and instructions for submitting nominations can be found on the grants website.

 

All the best,

Eric Green signature

History of Genomics Program launches virtual exhibits

History of Genomics Archive

 

NHGRI’s History of Genomics Program contains a vast wealth of information about the Human Genome Project and its many legacies. The program has long worked to make the history of genomics accessible to the public by producing an Oral History Collection and educational materials on scientific racism and eugenics; curating special collections from NHGRI’s History of Genomics Archive; as well as hosting various events.

Recently, the History of Genomics Program has been creating virtual exhibits that draw from archival materials and each highlight specific aspects of the Human Genome Project and its impacts on science and history. The first exhibit, developed by NHGRI’s archivist Zachary Utz, M.A., is titled “The Human Genome Project is simply a bad idea” — which is a quote from one of many letters criticizing the Human Genome Project as it was getting off the ground in 1990.

The exhibit explores a letter writing campaign launched by Martin Rechsteiner, Ph.D., a professor from the University of Utah School of Medicine, who called the Human Genome Project “mediocre science, terrible science policy.” He successfully recruited 55 others — mostly scientists and even one Nobel laureate, from 33 different academic institutions — to write anti-Human Genome Project letters and send them to the newly formed National Center for Human Genome Research (NCHGR), which would later become NHGRI.

Elke Jordan, Ph.D., who was the deputy director of NCHGR, responded to every letter, rebutting arguments against the project, some of which were repeated frequently. Dr. Jordan also saved the majority of the letters, which are now part of her archival collection, making this virtual exhibit possible.

One of the most common objections to the Human Genome Project was its estimated price tag, $3 billion. Many letters questioned whether sequencing the entire human genome would actually be useful, especially since at the time, many scientists thought most of the genome consisted of “junk DNA.” Several letters, therefore, argued all of this time and money would be better spent on more targeted studies of genes.

Many such “junk DNA” sequences are now known to be essential for human health and development, and their functions were discovered thanks to the groundwork laid by the Human Genome Project. Though this letter writing campaign did not impede the project, these archival materials serve as an important reminder of the boldness of the Human Genome Project and the extent to which it disrupted the scientific status quo at the time.

“The Human Genome Project is simply a bad idea” is the first in a series of virtual exhibits planned by the History of Genomics Program. The next exhibit, expected to launch by the end of this year, will focus on GeneSweep, a betting pool organized as the Human Genome Project was nearing completion in the early 2000s, in which scientists attempted to predict the total number of protein-coding genes in the human genome.

NIH initiative increases partnerships with HBCUs

Diversity Centers

 

Historically Black Colleges and Universities (HBCUs) carry out critical research and train many scientists, clinicians, and other biomedical professionals across the United States, but these institutions have historically not received significant funding from NIH. The NIH Small Business Program Office recently launched the Path to Excellence and Innovation (PEI) Initiative to increase the amount of NIH funding provided for research and training at HBCUs. The initiative — developed in accordance with the presidential executive order “Advancing Educational Equity, Excellence, and Economic Opportunity Through Historically Black Colleges and Universities” — fosters partnerships between HBCUs and small business and provides training and technical assistance to HBCUs to facilitate their applications for NIH grants and contracts, broadening the funding opportunities for HBCUs. More information about this program can be found on the National Institutes of Health PEI Initiative podcast.

ClinGen reaches 10 years of advancing clinical genomics knowledge

Clinical Genome Resource (ClinGen)

Historically Black Colleges and Universities (HBCUs) carry out critical research and train many scientists, clinicians, and other biomedical professionals across the United States, but these institutions have historically not received significant funding from NIH. The NIH Small Business Program Office recently launched the Path to Excellence and Innovation (PEI) Initiative to increase the amount of NIH funding provided for research and training at HBCUs. The initiative — developed in accordance with the presidential executive order “Advancing Educational Equity, Excellence, and Economic Opportunity Through Historically Black Colleges and Universities” — fosters partnerships between HBCUs and small business and provides training and technical assistance to HBCUs to facilitate their applications for NIH grants and contracts, broadening the funding opportunities for HBCUs. More information about this program can be found on the National Institutes of Health PEI Initiative podcast.

WALS Lecture features microbial genomicist Christian Happi

Christian Happi

 

In October, the NIH director’s Wednesday Afternoon Lecture Series (WALS) featured Christian Happi, Ph.D., a professor of molecular biology and genomics at Redeemer’s University in Nigeria, an investigator in the Human Heredity and Health in Africa (H3Africa) Consortium, and director of the African Center of Excellence for Genomics of Infectious Diseases (ACEGID). After an introduction by NHGRI Scientific Director Charles Rotimi, Ph.D., Dr. Happi highlighted genomics capacity-building efforts in West Africa and discussed how genomic knowledge and technologies are essential for predicting and combatting infectious disease outbreaks. He described a few examples, including ACEGID’s genomic work to track the Ebola virus during the 2014 outbreak in West Africa, to characterize new variants of concern within the genome of the SARS-CoV-2 virus, and to detect the virus that causes mpox in recent outbreaks worldwide. In some of these examples, early detection prevented further spread, demonstrating how genomics can provide a proactive — rather than reactive — response to infectious diseases. A recording of Dr. Happi’s lecture is now available online.

Genomics Research Spotlight

A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders
Lee, et al.
Nat Comm, Sept 2024, PMID: 39333082

 

Scientists from Boston Children’s Hospital and Harvard Medical School have advanced our understanding of genetic diseases by developing a new framework for identifying medically relevant genomic variants in non-coding regions of the genome. The researchers specifically focused on identifying variants related to rare developmental disorders known as congenital cranial dysinnervation disorders (CCDDs), which affect brain development and can lead to issues associated with a particular variant in a single protein-coding gene, such as sickle cell disease and cystic fibrosis. However, some conditions are caused by genomic variants residing in regions of the genome that do not code for proteins. Fewer tools have been developed to study these regions, and thus, these conditions can be far more challenging to detect and characterize. Using advanced single-cell sequencing techniques, the research team pinpointed novel genomic variants in non-coding regions of the genome associated with CCDDs. This work not only provides a new approach for studying disease-causing genomic variants in the case of CCDDs, but also paves the way for future diagnostic and therapeutic developments that could benefit patients with a variety of genetic conditions involving non-coding DNA.

 

This research was funded by NHGRI with a grant (PA-20-185) to Len Pennacchio, Ph.D., who is a senior staff scientist at the Lawrence Berkely National Laboratory. To learn more about NHGRI funding opportunities, please visit our website.

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November 14: NHGRI Division of Intramural Research Seminar Series — Ran Blekhman, Ph.D.

November 14: Genomics and Health Disparities Lecture Series — I. King Jordan. Ph.D.

December 11: Jeffrey M. Trent Lectureship in Cancer Research Series

December 12-13: Genomic Medicine XVI: Host Genomics and Infectious Disease

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Journeys in Human Genetics and Genomics Colloquium — Jane Loveland, Ph.D.

Journeys in Human Genetics and Genomics Colloquium — Douglas Fowler, Ph.D.

NHGRI CPHR Seminar Series — Logan Mulroney, Ph.D.

NHGRI CPHR Seminar Series — Rashmi Kanagal-Shamanna, Ph.D.

NHGRI SBRB Seminar Series — Mark Hatzenbuehler. Ph.D.

2022-2024 ISCC-PEG Scholars Presentations

A New Vision and Role for the NIH Center for Information Technology (CIT)

Ancient Genetic Clues into Modern Human Disease

Complex Trait Genetics Webinar Series — Rasmus Winther, Ph.D.

Pre-Application Webinar: Population Genomic Screening in Primary Care

Pre-Application Webinar: ELSI Congress

Funding Opportunities

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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: November 6, 2024