Research in human genetics and genomics drives discovery and better health. Explore our fact sheets below to learn more about these advances and their applications.
This fact sheet provides a snapshot of exciting, federally funded research taking place today.
Bamshad, M., Shendure, J., Valle, D., Lupski, J., Gibbs, R., Boerwinkle, E., . . . Center for Mendelian Genomics. (2012). The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions. American Journal of Medical Genetics A, 1523-1525.
Battelle Technology Partnership Practice. (2013, June). The Impact of Genomics on the U.S. Economy. Retrieved from United for Medical Research: http://www.unitedformedicalresearch.com/wp-content/uploads/2013/06/The-Impact-of-Genomics-on-the-US-Economy.pdf
Estimates of Funding for Various Research, Condition, and Disease Categories (RCDC). (2018). Retrieved from NIH: https://report.nih.gov/categorical_spending.aspx
Integrative Human Microbiome Project (iHMP) Research Network Consortium. (2014). The Integrative Human Microbiome Project: dynamic analysis of microbiome-host omics profiles during periods of human health and disease. Cell Host and Microbe, 276-289.
Khera, A., Chaffin, M., Aragam, K., Haas, M., Roselli, C., Natarajan, P., . . . Kathiresan, S. (2018). Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations. Nature Genetics, 1219-1224.
NCI Staff. (2018, May 22). FDA Approves Second CAR T-Cell Therapy for Lymphoma. Retrieved from National Cancer Institute: https://www.cancer.gov/news-events/cancer-currents-blog/2018/tisagenlecleucel-fda-lymphoma
New gene therapy strategy for sickle cell disease shows early promise in humans. (2018, December 1). Retrieved from Dana-Farber Cancer Institute: https://www.dana-farber.org/newsroom/news-releases/2018/new-genetherapy-strategy-for-sickle-cell-disease-shows-early-promise-in-humans/
New Guinness World Records Title Set for Fastest Genetic Diagnosis. (2019, February 12). Retrieved from Rady Children’s Hospital San Diego: https://www.rchsd.org/about-us/newsroom/press-releases/new-guinness-world-records-title-set-for-fastest-genetic-diagnosis/
NIH Research Grants. (2018). Retrieved from NIH: https://www.nih.gov/news-events/nih-research-grants-digital-press-kit
Posey, J., O’Donnell-Luria, A., Chong, J., Harel, T., Jhangiani, S., …Centers for Mendelian Genomics. (2019). Insights into genetics, human biology and disease gleaned from family based genomic studies. Genetics in Medicine 21 (4):798-812.
Simonti, C., Vernot, B., Bastarache, L., Bottinger, E., Carrell, D., Chisholm, R., . . . Capra, J. (2016). The phenotypic legacy of admixture between modern humans and Neandertals. Science, 737-741.
Thanks to a UNC research project, she can walk again. (2017, August). Retrieved from UNC Health Care: http://news.unchealthcare.org/news/2017/august/thanks-to-a-unc-research-project-she-can-walk-again
This fact sheet provides an overview of rare disease research, spanning from discovery to diagnosis to treatment.
2 Austin, C.P., Cutillo, C.M., Lau, L.P.L., Jonker, A.H., Rath, A., Julkowska, D., Thomson, D., Terry, S.F., de Montleau, B., Ardigò, D., et al. (2018). Future of Rare Diseases Research 2017–2027: An IRDiRC Perspective. Clin. Transl. Sci.
3 Dawkins, H.J.S., Draghia-Akli, R., Lasko, P., Lau, L.P.L., Jonker, A.H., Cutillo, C.M., Rath, A., Boycott, K.M., Baynam, G., Lochmüller, H., et al. (2018). Progress in Rare Diseases Research 2010–2016: An IRDiRC Perspective. Clin. Transl. Sci.
4 Splinter, K., Adams, D.R., Bacino, C.A., Bellen, H.J., Bernstein, J.A., Cheatle-Jarvela, A.M., Eng, C.M., Esteves, C., Gahl, W.A., Hamid, R., et al. (2018). Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease. N. Engl. J. Med.
Figure 2: Boycott, K.M., Rath, A., Chong, J.X., Hartley, T., Alkuraya, F.S., Baynam, G., Brookes, A.J., Brudno, M., Carracedo, A., den Dunnen, J.T., et al. (2017). International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases. Am. J. Hum. Genet.
This fact sheet provides a brief introduction to CRISPR-Cas9 as a gene editing tool in basic research to its promise in clinical applications.
- Lander, E. S. (2016). The Heroes of CRISPR. Cell, 164(1-2), 18-28. doi:10.1016/j.cell.2015.12.041
- E A Stadtmauer et al, Science, 2020, DOI: 10.1126/science.aba7365
This fact sheet provides an overview of the utility and application of noninvasive prenatal screening
This fact sheet outlines a few major advances in cancer genetics and genomics in diagnostics and treatment options.
This fact sheet provides an introduction to some research advances afforded by innovative sequencing technologies.
- Hayden, E.C. (2014). Technology: The $1000 Genome. Nature
- Manolio, T., Bult, C. , Chisholm R., et al. (2019). Genomic Medicine Year in Review: 2019. The American Journal of Human Genetics 105:6, P1072-1075.
- Gavan, S., Thompson, A., Payne, K. (2018). The economic case for precision medicine. Expert review of precision medicine and drug development vol. 3,1 1-9. Ginsburg, G., Phillips, K. (2018). Precision Medicine: From Science To Value. Health Affairs (Project Hope), 37(5), 694–701.