NHGRI welcomes Robert Rivers as new TiDHE Office Director
We have an exciting month ahead at NHGRI, starting with the September 2024 meeting of the National Advisory Council for Human Genome Research, which is less than a week away! The new director of the NIH Center for Information Technology, Sean Mooney, Ph.D., will speak during the open session of this meeting. I encourage you to attend Dr. Mooney’s and the other important talks that will take place during the council’s open session on September 9.
NHGRI is actively recruiting for a new director of our extramural Division of Genome Sciences. The selected individual will lead the institute’s efforts to fund extramural research and training programs that advance our knowledge of genome structure and function to better understand biology and disease. More information about the position can be found on our website. The deadline to apply is September 11.
All the best,
Genomics Research Spotlight
The impact of clinical genome sequencing in a global population with suspected rare genetic disease
Thorpe, et al.
Am. J. Hum. Genet., July 2024, PMID: 38843839
Millions of people worldwide are affected by rare genetic diseases, but the tools and expertise needed for diagnosing these diseases are not readily available for all people, especially in low- and middle-income countries, leaving many patients and their families searching for answers. However, the advent of more accessible and cost-effective DNA sequencing technologies is opening new doors. In this publication, researchers from around the world describe the impact of clinical genome sequencing on patient outcomes. The researchers specifically studied patients at sites from the iHope Program, an initiative to provide clinical genome sequencing to patients with suspected rare diseases in resource-limited settings. The program provided clinical genome sequencing to over 1,000 patients from ancestrally diverse backgrounds. In low- and middle-income countries, genome sequencing led to a diagnosis in approximately 56% of patients, while in high-income countries, the figure was 34%. Additionally, nearly 70% of the diagnosed patients experienced significant changes in their clinical management and care. This research highlights the immense potential of clinical genome sequencing to bridge gaps in health equity worldwide.
This research was funded in part by the NIH with a grant to Aime Lumaka, Ph.D., a professor at the University of Kinshasa (DR Congo); that grant is part of the Advancing Genomic Medicine Research Program (RFA-HG-20-036).
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: September 5, 2024