Advocacy Fact Sheets

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.

Human Genetic and Genomic Research

This fact sheet provides a snapshot of exciting, federally funded research taking place today.

References

Case of Genetics CoverBamshad, 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

Rare Diseases

This fact sheet provides an overview of rare disease research, spanning from discovery to diagnosis to treatment.

References

Rare Disease Fact Sheet1 https://www.fda.gov/media/99546/download

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.

5 https://ghr.nlm.nih.gov/condition/cln7-disease#statistics

6 https://www.sciencemag.org/news/2018/10/tailormade-drug-developed-record-time-may-save-girl-fatal-brain-disease

7 https://www.stopbatten.org/

8 https://nri.texaschildrens.org/news/leo%E2%80%99s-story-our-superhero

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.

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