Month: March 2024

HHMI – Howard Hughes Medical Institute
Press Room
Scaling Up Precision Genome Editing
Precision genome editing tools – including prime editing – enable scientists to model genetic variants in their native environment. Now, researchers have developed a framework for engineering and measuring the effects of thousands of genetic mutations simultaneously while accurately quantifying the efficiency of prime editing. They’ve even found that some mutations once considered to be inconsequential or nonpathogenic may contribute to cancers.
March 15, 2024

Public Health Genomics
2024, Vol. 27, No. 1
Perspectives
Next-Generation Public Health Genomics: A Call to Assess the Equitable Implementation, Population Health Impact, and Sustainability of Precision Public Health Applications
Megan C. Roberts; Caitlin G. Allen
The field of Public Health Genomics recently celebrated its twenty-fifth anniversary [1]. Defined by the CDC as responsible and effective translation of genome-based knowledge and technologies for the benefit of population health, public health genomics applications have expanded beyond newborn screening to other applications poised to improve public health [2, 3]. Yet despite the promise and potential for public health genomics, the population health impact and sustainability of public health genomics applications has yet to be fully measured and achieved. Further access to public health genomics applications has been lower among underrepresented racial and ethnic communities, rural communities, and groups with lower education and income [2], deepening concerns that the field could exacerbate rather than redress health inequities [4, 5]. As we enter the next generation of public health genomics, we must shift our focus from not only understanding the collection of genetic risk information and related needs, but also the real-world use of this precision information and its impact on population health outcomes and health equity over time…

Nature Reviews Drug Discovery
Volume 23 Issue 3, March 2024
Comment 06 Feb 2024
The Bespoke Gene Therapy Consortium: facilitating development of AAV gene therapies for rare diseases
A public–private partnership managed by the FNIH aims to address biological, manufacturing and regulatory challenges to the development of gene therapies for rare diseases.
P. J. Brooks, Timothy M. Miller, Joni L. Rutter

Annals of Internal Medicine
February 2024 Volume 177, Issue 2
Original Research
Gene Therapy Versus Common Care for Eligible Individuals With Sickle Cell Disease in the United States – A Cost-Effectiveness Analysis
Anirban Basu, PhD, … et al.
Pages:155–164
The U.S. Food and Drug Administration recently approved 2 genetic therapies for sickle cell disease. Both therapies increase the production of nonsickling red blood cells, either fetal hemoglobin or a gene therapy–derived hemoglobin similar to hemoglobin A. In addition, both therapies require collection of a patient’s stem cells, modification of the cells in the laboratory, high-dose chemotherapy to remove existing bone marrow cells, and a single-dose infusion of the patient’s modified stem cells. This article uses 2 different cost-effectiveness models to estimate whether these therapies provide enough value to justify their high costs.

Cell
Feb 29, 2024 Volume 187 Issue 5 p1017-1314
Leading Edge
Five decades of genetics and genomics
The Cell Editorial Team
Some of the most significant discoveries in the life sciences over the last 50 years stem from genetics and genomics. This field has also seen large-scale collaborative efforts yield fundamental milestones and results, such as the Human Genome Project. Despite a long road ahead, progress in both basic and clinical genetics now drives sweeping efforts to cure complex human ailments such as blood and psychiatric disorders, metabolic diseases, cancer, and neurodegeneration. While these large tent-pole endeavors receive the most attention, cutting-edge modern genetics techniques are foundational to the science that happens daily across the biomedical life sciences.

Past, present, and future of CRISPR genome editing technologies
Martin Pacesa, Oana Pelea, Martin Jinek
A broad survey of the genome editing landscape, highlighting the potential and the challenges of genome editing applications for research and therapeutics.