September 6, 2017
In addition to late summer vacations and solar-eclipse viewing, August brought some great genomic science to the NIH campus. Specifically, NIH hosted a workshop entitled "The Human Microbiome: Emerging Themes at the Horizon of the 21st Century," which showcased the remarkable recent advances in human microbiome research. I would encourage you to view some of the video-recorded talks from this symposium, now available.
Meanwhile, we recently learned about some transitions within the NHGRI Intramural Research Program involving two long-time members of the Institute. Dr. Bill Pavan will become Chief of the Genetic Disease Research Branch, taking over the reins of this Branch from Dr. Pam Schwartzberg, who will be joining an exciting new research program at the National Institute of Allergy and Infectious Diseases (NIAID). I would like to congratulate both Bill and Pam on their new positions.
This month's The Genomics Landscape features stories about:
All the best,
In parallel with scientific advances, public interest in genome editing is accelerating at a rapid pace. What was once science fiction can now be considered 'science fact.' The new tools of genome editing allow researchers to change the DNA of different organisms, such as plants, bacteria, and animals (including humans), which can lead to changes in physical traits.
Current genome-editing involves the use of technologies that act like scissors, cutting DNA at specific locations. After cutting, scientists can remove, add, or replace the DNA at that site. This then allows researchers to explore in greater detail the relationships between the DNA makeup of an organism (its genotype) and the manifestation of traits (its phenotype).
Some genome-editing technologies have been available for the past two decades, including homologous recombination, zinc-finger nucleases (ZFNs), and transcription activator-like effector nucleases (TALENs). While useful for some applications, these techniques can be time-consuming, expensive, and/or complicated to use; they also tend to be inefficient, causing 'off-target' edits (in which an area of the genome gets unintentionally edited).
A newer tool called CRISPR/Cas9 (CRISPR, for short), developed in 2009, has revolutionized the field of genome editing. CRISPR, which stands for Clustered Regularly Interspaced Short Palindromic Repeats, is simpler, faster, cheaper, and more accurate than older genome-editing methods, and has rapidly become the preferred technology for most scientists.
Using CRISPR, the genomes of animals (such as mice and zebrafish) can now be edited with much greater ease. This allows researchers to modify specific genes and study the resulting consequences to the animals' health. In particular, this allows animal-based disease models to be created and used for important research projects.
In the NHGRI Intramural Research Program, Dr. Shawn Burgess uses genome-editing techniques to investigate the causes of human deafness using zebrafish models. Working in the NHGRI Embryonic Stem Cell and Transgenic Mouse Core, Director Lisa Garrett has developed gene-editing protocols for efficiently generating transgenic mice, and she maintains an updated guide for protocols using CRISPR/Cas9 and other gene-editing tools. In addition, genome-editing tools are being tested for use in gene therapy to treat disease in humans; when the use of the technologies is limited to somatic (or non-reproductive) cells, like those in skin or liver, the DNA changes are not transmitted to future generations. For this application, minimizing off-target effects is critical since changes to the wrong portions of the genome could negatively affect other biological processes.
The NHGRI Extramural Research Program just awarded a new Centers of Excellence in Genomic Science (CEGS) award to Dr. Jennifer Doudna at the University of California-Berkeley and collaborators. Building on the CRISPR-Cas9 genome-engineering technology, these investigators aim to create methods for detecting, altering, and recording the sequence and output of the genome in individual cells and tissues.
At the same time, exciting new laboratory advances have raised numerous questions: How is genome editing currently used, and how might it be used in the future? What are the ethical issues surrounding genome editing? What does the scientific community and the general public think about the advances in genome editing?
To provide information relevant to these questions, the Policy and Program Analysis Branch of NHGRI's Division of Policy, Communications, and Education has developed a web resource on genome editing. The resource describes the technical aspects of different genome-editing techniques as well as pertinent ethical issues, such as safety, informed consent, justice and equity, and research involving embryonic cells.
Since the public has a variety of perspectives on, and concerns about, genome-editing tools, this resource aims to provide information to facilitate the ongoing discussions. The resource concentrates relevant information into a single location for those interested in learning more about genome editing. For more information and to view the genome-editing resource, see genome.gov/27569222/genome-editing//genome-editing/.
More from The Genomics Landscape:
In keeping with a mission to make genomic medicine a reality for all populations and individuals, NHGRI, in collaboration with the National Cancer Institute and the National Institute on Minority Health and Health Disparities, recently announced new grants that will support the Clinical Sequencing Evidence-Generating Research (CSER2) Consortium. These four-year awards, totaling $18.9 million in Fiscal Year 2017, will fund research to generate evidence about the utility of genome sequencing in clinical care. The new awards have an important focus on underserved populations and settings that extend beyond academic medical centers. For more information, see genome.gov/27568938/2017-news-release-nih-accelerates-the-use-of-genomics-in-clinical-care/
Later this fall, Josie Briggs, M.D. will be leaving her post as the Director of the National Center for Complementary and Integrative Health (NCCIH). In 1997, she was recruited from the University of Michigan to serve as the Director of the Division of Kidney, Urologic, and Hematologic Diseases in the National Institute of Diabetes and Digestive and Kidney Diseases. She briefly left NIH for a senior position at the Howard Hughes Medical Institute before returning as the NCCIH Director in 2008. NHGRI wishes her the best of luck in her new position as the Editor-in-Chief of the Journal of the American Society of Nephrology.
In July, a group of graduate students participating in the National Congress of American Indians (NCAI) Native Graduate Health Fellowship visited NIH. The NCAI Native Graduate Fellowship is a program that works to increase the number of Native health professionals who can address the health needs of American Indians and Alaska Natives. The group met with Dr. David Wilson, Director of the NIH Tribal Health Research Office, along with NHGRI staff. They participated in tours of the NHGRI Zebrafish Core and NIH Clinical Center. The day's agenda was designed to help participants increase their knowledge of how research translates into improved health practice and policies; the impact of research on national, state, and tribal policy; and opportunities available for research and training at the NIH.
Each summer, NIH hosts myriad trainees from high school to professional levels as part of the NIH Summer Internship Program (SIP). The SIP experience enables trainees to spend a summer working at NIH side-by-side with biomedical researchers. The trainees conduct research, attend scientific lectures, attend career/professional development workshops, and participate in other activities hosted by the NIH Office of Intramural Training and Education and by individual Institutes and Centers (e.g., the NHGRI Intramural Training Office). To learn more about three of the NHGRI summer interns, who all happen to have worked on enhancing the Atlas of Human Malformations in the laboratory of Dr. Max Muenke, see genome.gov/27569457/summer-interns-help-expand-a-critical-resource-for-diagnosing-patients/.
Posted: September 6, 2017