History of Genomics Program launches virtual exhibits
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,
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.
About The Genomics Landscape
A monthly update from the NHGRI Director on activities and accomplishments from the institute and the field of genomics.
Last updated: November 6, 2024