Advocacy Fact Sheets - ASHG

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.

The Use of Artificial Intelligence in Human Genetics and Genomics Research

Artificial intelligence (AI) is rapidly transforming human genetics and genomics research, enabling scientists and clinicians to interpret complex biological data faster and at greater scale than ever before. AI has the potential to accelerate discoveries that improve diagnosis, treatment, and public health outcomes. Realizing these benefits will require sustained federal investment in biomedical research, including research on the ethical, legal, and social implications of emerging technologies; support for representative genomic data resources; responsible AI policies and standards that promote reliable use; and strong privacy, governance, and regulatory frameworks that ensure transparency, accountability, and protection of sensitive health data.

Date Posted: July 2026

References:

  1. Kim J, Wang K, Weng C, Liu C. Assessing the utility of large language models for phenotype-driven gene prioritization in the diagnosis of rare genetic disease. The American Journal of Human Genetics. 2024;111(10):2190-2202. doi:10.1016/j.ajhg.2024.08.010
    https://www.cell.com/ajhg/fulltext/S0002-9297(24)00296-9
  2. Liang L, Chen Y, Wang T, et al. Genetic Transformer: An innovative large language model-driven approach for rapid and accurate identification of causative variants in rare genetic diseases. medRxiv. doi:10.1101/2024.07.18.24310666 https://www.medrxiv.org/content/10.1101/2024.07.18.24310666v1
  3. Wu D, et al. GestaltMML: Enhancing rare genetic disease diagnosis through multimodal machine learning combining facial images and clinical texts. PMC11071539.
    https://pubmed.ncbi.nlm.nih.gov/38711434/
  4. Vora LK, et al. Artificial intelligence in drug development. Nature Medicine doi:10.1038/s41591-024-03434-4.
    https://pmc.ncbi.nlm.nih.gov/articles/PMC12114816/
  5. AI-enabled patient prioritization: MPSE identifies newborns for whole-genome sequencing within 48 h of NICU admission. npj Genomic Medicine
    https://www.nature.com/articles/s41525-025-00506-3
  6. Jin Q, et al. Matching patients to clinical trials with large language models. Nature Communications 2024 (PMC11574183).
    https://pubmed.ncbi.nlm.nih.gov/39557832/

Human Genetic and Genomic Research

Due to decades of robust federal funding for National Institutes of Health research, groundbreaking genetic and genomic discoveries are revolutionizing medicine and saving lives. Advances include earlier and more accurate detection and diagnosis of genetic conditions; new gene therapy treatments; and improved access of individuals to genomic medicine. New research frontiers offer promising opportunities to treat—and even reverse—disease more effectively, while also deepening our fundamental understanding of human genetics.

*Posted July 2025

References

Active Projects by Institute/Center, Human Genetics and Genomics (2025). Retrieved from NIH: https://reporter.nih.gov/advanced-search

Genetic Alliance. iHope Genetic Health. Retrieved from https://ihopegenetichealth.org/

Green, E. D., Gunter, C., Biesecker, L. G., et al. (2020). Strategic vision for improving human health at The Forefront of Genomics. Nature, 586, 683–692. https://doi.org/10.1038/s41586-020-2817-4

Kim, J., Hu, C., Moufawad El Achkar, C., et al. (2019). Patient-customized oligonucleotide therapy for a rare genetic disease. New England Journal of Medicine, 381(17), 1644–1652. https://doi.org/10.1056/NEJMoa1813279

Kingsmore, S. F., Wright, M., Olsen, L., et al. (2024). Genome-based newborn screening for severe childhood genetic diseases has high positive predictive value and sensitivity in a NICU pilot trial. The American Journal of Human Genetics, 111(10), 1987–1999. https://doi.org/10.1016/j.ajhg.2024.10.020

Manolio, T.A. et al. (2024). Genomic medicine year in review: 2024. American Journal of Human Genetics, 111(12), 2585-2588. https://doi.org/10.1016/j.ajhg.2024.11.002

Musunuru K., Grandinette S.A., Wang X., et al. (2025). Patient-specific in vivo gene editing to treat a rare genetic disease. N Engl J Med. 2025;392(22):2235-2243. doi:10.1056/NEJMoa2504747

National Human Genome Research Institute. DNA sequencing costs: Data. Genome.gov. Retrieved from https://www.genome.gov/about-genomics/fact-sheets/DNA-Sequencing-Costs-Data

Nurk, S., Koren, S., Rhie, A., et al. (2022). The complete sequence of a human genome. Science, 376(6588), 44–53. https://doi.org/10.1126/science.abj6987

Satam, H., Joshi, K., Mangrolia, U., et al. (2023). Next-generation sequencing technology: Current trends and advancements. Biology, 12(7), 997 https://doi.org/10.3390/biology12070997

Tripp, S., & Grueber, M. (2021). The economic impact and functional applications of human genetics and genomics. TEConomy Partners, LLC. Commissioned by the American Society of Human Genetics. Retrieved from https://www.ashg.org/wp-content/uploads/2021/05/ASHG-TEConomy-Impact-Report-Final.pdf

United for Medical Research. (2025). Annual economic report. https://www.unitedformedicalresearch.org/annual-economic-report/

U.S. Food and Drug Administration. (2023, December 8). FDA approves first gene therapies to treat patients with sickle cell disease. https://www.fda.gov/news-events/press-announcements/fda-approves-first-gene-therapies-treat-patients-sickle-cell-disease

Rare Diseases

It is estimRare Disease Fact Sheetated that about 25-30 million Americans suffer from a rare disease. In the United States, a rare disease is defined as affecting fewer than 200,0001. While each rare or ultra-rare disease affects only a small number of individuals, the impact on patients, families, and communities is enormous.Rare diseases collectively affect a significant portion of the population. Most conditions are chronic, debilitating, and even life-threatening. Advances in genetics and genomics research have and will continue to benefit Americans living with rare diseases.

 

References

1 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.

Gene Editing with CRISPR

ICrispr9 Factsheetn the past decade, scientists have found a way to make specific, targeted changes to DNA much more quickly and efficiently than ever before. This is made possible by a revolutionary gene editing tool called CRISPR, discovered through federally funded basic research investigating the immune systems of bacteria. Scientists are now harnessing CRISPR as a research tool to study the human genome. Clinical trials are also underway, examining its therapeutic utility for a variety of genetic defects and disorders, as well as for cancer treatment and rapid diagnostics for infectious diseases.

 

References

  1. Lander, E. S. (2016). The Heroes of CRISPR. Cell, 164(1-2), 18-28. doi:10.1016/j.cell.2015.12.041
  2. https://www.npr.org/sections/health-shots/2020/03/04/811461486/in-a-1st-scientists-use-revolutionary-gene-editing-tool-to-edit-inside-a-patient
  3. https://www.nature.com/articles/d41586-020-00655-8
  4. E A Stadtmauer et al, Science, 2020, DOI: 10.1126/science.aba7365
  5. https://www.gao.gov/products/GAO-20-478SP
  6. https://www.fda.gov/news-events/press-announcements/coronavirus-covid-19-update-daily-roundup-may-7-2020
  7. https://www.genome.gov/about-genomics/policy-issues/Genome-Editing/How-genome-editing-is-used
Prenatal Cell-Free DNA Screening

cfDNA FactsheertIn the last decade, advances in DNA sequencing have revolutionized prenatal screening for chromosomal disorders in fetuses. Now routinely carried out as part of prenatal care, prenatal cell-free DNA (cfDNA) screening offers doctors a low-risk way to screen for specific genomic conditions in a fetus using just a small sample of a pregnant person’s blood. Early detection of fetal genetic abnormalities gives families and clinicians time to prepare for the care the child may require.

References

  1. https://www.cdc.gov/mmwr/preview/mmwrhtml/mm5701a2.htm
  2. https://www.genomicseducation.hee.nhs.uk/blog/what-is-nipt/
  3. https://ghr.nlm.nih.gov/primer/testing/nipt
  4. https://www.annualreviews.org/doi/abs/10.1146/annurev-med-072115-033220
  5. https://www.annualreviews.org/doi/abs/10.1146/annurev-med-072115-033220
  6. https://www.genomicseducation.hee.nhs.uk/blog/what-is-nipt/
  7. https://www.acog.org/patient-resources/faqs/pregnancy/prenatal-genetic-screening-tests
  8. https://www.genome.gov/dna-day/15-ways/noninvasive-prenatal-genetic-testing
  9. https://nihrecord.nih.gov/sites/recordNIH/files/pdf/2015/NIH-Record-2015-03-13.pdf
  10. https://www.annualreviews.org/doi/abs/10.1146/annurev-med-072115-033220
  11. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6545823/
  12. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4112725/
  13. https://www.annualreviews.org/doi/abs/10.1146/annurev-med-072115-033220
  14. https://f1000research.com/articles/8-764/v1
  15. https://www.nature.com/articles/ejhg201557
Cancer Genetics and Genomics

Cancer, a disease caused by mutations in the human genome, is the second leading cause of death in the United States. Basic genetics and genomics research funded by the National Institutes of Health (NIH) has led to a greater understanding of the causes of numerous types of cancer, which in turn is leading to advances in clinical care. The development of early prevention and detection tools, as well as increasingly effective targeted therapies, has improved the prognosis for patients.

References

  1. https://www.cancer.gov/about-cancer/causes-prevention/genetics
  2. https://www.cancer.org/content/dam/cancer-org/research/cancer-facts-and-statistics/annual-cancer-facts-and-figures/2019/cancer-facts-and-figures-2019.pdf
  3. https://www.cancer.gov/about-nci/organization/ccg/research/structural-genomics/tcga
  4. https://www.cancertreatmentreviews.com/article/S0305-7372(14)00043-7/fulltext
  5. https://www.cancer.gov/about-cancer/causes-prevention/genetics
  6. https://www.cancer.gov/about-cancer/causes-prevention/genetics
  7. https://www.annalsofoncology.org/article/S0923-7534(20)36058-0/fulltext
  8. https://www.cancer.gov/about-nci/organization/ccg/cancer-genomics-overview
  9. https://www.cancer.gov/about-cancer/treatment/types/targeted-therapies/targeted-therapies-fact-sheet
  10. https://www.cancer.gov/about-cancer/treatment/types/targeted-therapies/targeted-therapies-fact-sheet
  11. https://www.cancer.gov/news-events/cancer-currents-blog/2018/tisagenlecleucel-fda-lymphoma
  12. https://www.cancer.gov/about-nci/organization/ccg/cancer-genomics-overview
  13. https://www.nejm.org/doi/full/10.1056/NEJMoa1903387
  14. https://www.cancer.gov/research/areas/genomics
  15. https://www.cancer.gov/about-nci/organization/ccg/cancer-genomics-overview
  16. https://www.cancer.gov/research/areas/genomics   
Cancer Prevention

Cancer affects more than 18 million Americans and is the leading cause of death for people under age 65. However, recent advances in genetics and genomics are transforming the landscape of cancer prevention, detection, and treatment. Today, up to half of cancers can be prevented or detected earlier using existing tools. Understanding an individual’s inherited risk through genetic testing allows for earlier, more effective intervention. Continued progress in genetic research, made possible through NIH funding, not only improves prevention and early detection but also empowers patients to make informed decisions and helps reduce the immense health and economic burden cancer places on families and communities nationwide.

References

  1. https://www.cancer.org/cancer/coping/cancer-prevalence.html
  2. Chow RD, Bradley EH, Gross CP. Comparison of cancer-related spending and mortality rates in the US vs 21 high-income countries. JAMA Health Forum. 2022;3(5). doi:10.1001/jamahealthforum.2022.1229
  3. https://seer.cancer.gov/statfacts/html/common.html
  4. Van Cott C. Cancer Genetics. Surgical Clinics of North America. 2020;100(3):483-498. doi:10.1016/j.suc.2020.02.012
  5. Goddard KA, Feuer EJ, Mandelblatt JS, et al. Estimation of cancer deaths averted from prevention, screening, and treatment efforts, 1975-2020. JAMA Oncology. 2025;11(2):162. doi:10.1001/jamaoncol.2024.5381
  6. Philipson TJ, Durie T, Cong Z, Fendrick AM. The aggregate value of cancer screenings in the United States: Full potential value and value considering adherence. BMC Health Services Research. 2023;23(1). doi:10.1186/s12913-023-09738-4
  7. https://www.who.int/news-room/fact-sheets/detail/cancer#:~:text=Between%2030%20and%2050%25%20of,Early%20detection
  8. Fayer S, Horton C, Dines JN, et al. Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN. The American Journal of Human Genetics. 2021;108(12):2248-2258. doi:10.1016/j.ajhg.2021.11.001
  9. https://www.cancer.gov/about-cancer/causes-prevention/genetics/brca-fact-sheet
Sequencing

DNAPolicy-factsheet-sequencing sequencing is a standard technique used in genetic research and medicine to read a person’s DNA code. Through DNA sequencing, researchers are investigating how the human genome functions and exploring the genetic causes of disease, and this knowledge is being translated into advances in clinical care. Sustained investments in the National Institutes of Health (NIH) have funded remarkable advances in DNA sequencing technologies, enabling new research and clinical applications.

References

  1. Hayden, E.C. (2014). Technology: The $1000 Genome. Nature
  2. https://www.genome.gov/about-genomics/fact-sheets/DNA-Sequencing-Costs-Data
  3. 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.
  4. http://news.unchealthcare.org/news/2017/august/thanks-to-a-unc-research-project-she-can-walk-again
  5. https://allofus.nih.gov/about/all-us-research-program-overview
  6. 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.
  7. https://www.genome.gov/about-genomics/fact-sheets/Sequencing-Human-Genome-cost
  8. https://www.labiotech.eu/features/genome-sequencing-review-projects/
  9. https://www.cdc.gov/nchs/fastats/infant-health.htm
  10. https://www.rchsd.org/about-us/newsroom/press-releases/new-guinness-world-records-title-set-for-fastest-genetic-diagnosis 
COVID-19 and Genetics

The international biomedical research community is working at an unprecedented pace, with unparalleled progress, to understand and defeat the SARS-COV-2 pathogen.  In early 2020, researchers pivoted quickly to COVID-19 and today are generating and sharing data, treatment options, and prevention strategies with record speed and transparency. This rapid response and our ability to understand and respond to this specific virus are possible thanks to decades of basic and translational research, as well as sustained federal investment in technology and a research community that spans disciplines and sectors.

The human genetics community is contributing to solutions in three foundational ways and, even as headlines report changes in the virus, researchers are tracking those changes relentlessly and working to get a step ahead and stop its tragic impact.

References

  1. Hayden, E.C. (2014). Technology: The $1000 Genome. Nature
  2. https://directorsblog.nih.gov/2020/07/16/researchers-publish-encouraging-early-data-on-covid-19-vaccine/
  3. https://www.goldengooseaward.org/01awardees/immunome
  4. Zost, S.J., Gilchuk, P., Chen, R.E., Case, J.B., Reidy, J.X., Trivette, A., et al. (2020). Rapid Isolation and profiling of a diverse panel of human monoclonal antibodies targeting the SARS-Cov-2 spike protein. Nature Medicine. 26(9), 1422-1427.
  5. https://covid19-testing.broadinstitute.org/
  6. https://www.bcm.edu/news/baylor-genomics-teams-partner-to-provide-covid-19-testing-for-houston-area
  7. https://www.color.com/covid
  8. https://www.cdc.gov/coronavirus/2019-ncov/covid-data/investigations-discovery/hospitalization-death-by-race-ethnicity.html
  9. https://www.covid19hg.org/partners/
  10. https://www.covidhge.com/
  11. Wadman, M. (2020). Flawed interferon response spurs severe illness. Science. 369(6511), 1550-1551. 
Economic Impact of Human Genetics & Genomics

This fact sheet highlights major findings from a new ASHG commissioned report examining how human genetics and genomics is growing the U.S. economy and becoming increasingly integrated in healthcare and society.

 

 

 

 

 

 

Expanding Participation in Genetic and Genomic Studies

It is imperative for participation in genetics and genomics research to reflect humanity’s genetic variation so that all people can enjoy its benefits. This will take a concerted effort by the research community and research funders and must include greater engagement with individuals and communities less represented in research.

References

  1. Sirugo G., Williams, S.M., Tishkoff S.A. The Missing Diversity in Genetic Studies. Cell (2019).
  2. Collins, F., Doudna, J.A., Lander, E., and Rotimi, C.N. Human Molecular Genetics and Genomics — Important Advances and Exciting Possibilities. N.Engl.J.Med (2021).
  3. Ibid.
  4. https://www.nhlbi.nih.gov/news/2018/genetic-study-reveals-why-asthma-inhalers-fail-minority-children
  5. Hindorff, L.A., Bonham, V.A., Brody, L.C., et al. Prioritizing diversity in human genomics research. Nat Rev Genet (2018).
  6. https://www.cdc.gov/coronavirus/2019-ncov/community/health-equity/racial-ethnic-disparities/index.html
  7. https://www.nih.gov/ending-structural-racism/unite
  8. https://allofus.nih.gov/about/core-values
  9. https://h3africa.org/index.php/about/
  10. https://www.southerncommunitystudy.org/about-the-sccs.html
  11. https://www.jacksonheartstudy.org/
  12. https://www.nhlbi.nih.gov/science/hispanic-community-health-studystudy-latinos-hchssol
Neurogenetics

Federally funded basic research is driving progress toward understanding the genes involved in a large number of neurological and psychiatric disorders. About 40% of more than 5,000 genetic disorders with a known molecular basis are associated with the nervous system. Improvements in sequencing technology and other genetic tools have enabled the identification of genes involved in many brain disorders and provided new insights into their role in disease. These advances, along with recent breakthroughs in gene therapy, have already translated research discoveries into treatments for previously incurable diseases.

 

References

  1. Rexach, J., Lee, H., Martinez-Agosto, J. A., Németh, A. H., & Fogel, B. L. (2019). Clinical application of next-generation sequencing to the practice of neurology. The Lancet. Neurology, 18(5), 492–503. doi: 10.1016/S1474-4422(19)30033-X.
  2. Vgontzas, A. and Renthal, W. (2019). Introduction to neurogenetics. American Journal of Medicine. 132:142-152. doi: 10.1016/j.amjmed.2018.07.041.
  3. https://braininitiative.nih.gov/strategic-planning/brain-priority-areas
  4. Kunkle BW, et al. (2019). Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing. Nat Genet. 2019 Mar;51(3):414-430. doi: 10.1038/s41588-019-0358-2.
  5. International Parkinson Disease Genomics Consortium (IPDGC). Ten Years of the International Parkinson Disease Genomics Consortium: Progress and Next Steps. J Parkinsons Dis. 2020;10(1):19-30. doi: 10.3233/JPD-191854.
  6. https://www.nih.gov/news-events/nih-research-matters/mental-disorders-may-share-molecular-origins
  7. Zoghbi, H. Y., & Warren, S. T. (2010). Neurogenetics: advancing the “next-generation” of brain research. Neuron, 68(2), 165–173. doi: 10.1016/j.neuron.2010.10.015.
  8. Rexach, J., Lee, H., Martinez-Agosto, J. A., Németh, A. H., & Fogel, B. L. (2019). Clinical application of next-generation sequencing to the practice of neurology. The Lancet. Neurology, 18(5), 492–503. doi: 10.1016/S1474-4422(19)30033-X.
  9. https://www.ucsf.edu/news/2020/10/418921/genetic-testing-leads-awakening-developmentally-delayed-nearly-catatonic-teen
  10. Jayadev, S., Smith, C. O., & Bird, T. D. (2011). Neurogenetics: Five new things. Neurology. Clinical practice, 1(1), 41–48. doi: 10.1212/CPJ.0b013e31823c0f5f
  11. https://www.fda.gov/news-events/press-announcements/fda-approves-innovative-gene-therapy-treat-pediatric-patients-spinal-muscular-atrophy-rare-disease

Zoghbi, H. Y., & Warren, S. T. (2010). Neurogenetics: advancing the “next-generation” of brain research. Neuron, 68(2), 165–173. doi: 10.1016/j.neuron.2010.10.015  

Research & Privacy

Privacy-factsheet-pageLifesaving advances in health and medicine, driven by large-scale genomic datasets and biobanks, depend on broad public research participation. Given the centrality of data to genetics and genomics, the research community is proactive in addressing privacy risks or breaches, assessing how new technological advances could identify individuals from genomic information, and helping to lead the development or revision of professional practices to protect confidentiality.

 

 

 

 

 

Human Genetics & Genomics Research Across NIH

Human genetics and genomics research is a foundational component of the research to improve human health across the National Institutes of Health (NIH). Nearly all of the 27 NIH institutes and centers support the application of genetic technologies to increase our understanding of the causes of disease and to improve ways to preempt, treat and cure illness. This work builds upon the decades of federally funded research by the National Human Genome Research Institute (NHGRI) at the NIH to understand the biology of the human genome, or the complete DNA sequences of a human.

 

 

 

References

  1. Green, E.D., Gunter, C., Biesecker, L.G. et al. Strategic vision for improving human health at The Forefront of Genomics. Nature 586, 683–692 (2020). https://doi.org/10.1038/s41586-020-2817-4
  2. https://acd.od.nih.gov/working-groups/pmi.html
  3. https://www.nhlbi.nih.gov/science/precision-medicine-activities
  4. https://www.ninds.nih.gov/Current-Research/Research-Funded-NINDS/Translational-Research/urgent-network
  5. https://commonfund.nih.gov/hmp  
Chronic Diseases

The-Benefits-of-human-genetics-Noncommunicable-Diseases-factsheetAdvances in federally funded genetics and genomics research are leading to new discoveries in preventing, diagnosing, and treating diseases—with much more to come. In this way, human genetics and genomics is providing hope for patients, families, and communities.

References

  1. https://www.cdc.gov/nchs/fastats/leading-causes-of-death.htm
  2. https://www.nhlbi.nih.gov/health-topics/coronary-heart-disease
  3. https://www.nhlbi.nih.gov/news/new-multi-gene-test-may-help-find-risk-heart-disease-other-conditions
  4. https://www.nature.com/articles/nrg.2017.89
  5. https://www.cancer.gov/about-cancer/causes-prevention/genetics
  6. https://www.fda.gov/vaccines-blood-biologics/cellular-gene-therapy-products/approved-cellular-and-gene-therapy-products
  7. https://www.cancer.gov/news-events/cancer-currents-blog/2020/fda-guardant-360-foundation-one-cancer-liquid-biopsy
  8. https://www.aacr.org/blog/2021/04/14/aacr-annual-meeting-2021-facilitating-early-cancer-detection-with-liquid-biopsy/
Infectious Diseases

The-Benefits-of-human-genetics-Infectious-Diseases-factsheetAdvances in federally funded genetics and genomics research are leading to new discoveries in preventing, diagnosing, and treating diseases—with much more to come. In this way, human genetics and genomics is providing hope for patients, families, and communities.

References

  1. https://www.niaid.nih.gov/diseases-conditions/hivaids
  2. Ibid.
  3. https://directorsblog.nih.gov/2019/07/16/enlisting-crispr-in-the-quest-for-an-hiv-cure/
  4. Ibid.
  5. https://www.cdc.gov/drugresistance/about.html
  6. https://www.who.int/news-room/fact-sheets/detail/antibiotic-resistance
  7. https://www.cdc.gov/drugresistance/pdf/threats-report/2019-ar-threats-report-508.pdf
  8. Ibid.
  9. https://www.medicalcountermeasures.gov/newsroom/2020/antibioticresistant/
Rare Diseases

The-Benefits-of-human-genetics-Rare-diseases-factsheetAdvances in federally funded genetics and genomics research are leading to new discoveries in preventing, diagnosing, and treating diseases—with much more to come. In this way, human genetics and genomics is providing hope for patients, families, and communities.

References

  1. https://rarediseases.info.nih.gov/diseases/7883/spinal-muscular-atrophy-1
  2. Ibid.
  3. https://rarediseases.info.nih.gov/diseases/7883/spinal-muscular-atrophy-1
  4. https://rarediseases.info.nih.gov/diseases/8614/sickle-cell-anemia
  5. https://directorsblog.nih.gov/2019/04/02/a-crispr-approach-to-treating-sickle-cell/
  6. Ibid.
Data Sharing

Data Sharing factsheetData sharing has been common practice in genetics and genomics research for decades, accelerating biomedical discoveries and improving human health. Sustained funding to the National Institutes of Health (NIH) will ensure that genetic and genomic data remain accessible to researchers in ways that advance science and also protect the privacy of participants and minimize the stigmatization of groups of people.

References

  1. https://pubmed.ncbi.nlm.nih.gov/32694666/
  2. https://grants.nih.gov/grants/guide/notice-files/not-od-14-124.html
  3. https://allofus.nih.gov/
  4. https://www.research.va.gov/mvp/
  5. http://www.ncbi.nlm.nih.gov/gap
  6. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3965052/
  7. https://pubmed.ncbi.nlm.nih.gov/34493770/
  8. https://www.ashg.org/publications-news/press-releases/201909-privacy-principles/
Gene Therapy

Cover to Gene Therapy FactsheetScientists first proposed treating disease by changing the DNA in a person’s cells nearly 50 years ago. Today, the promise of gene therapy is beginning to be realized—and it would not be possible without fundamental research supported by the National Institutes of Health (NIH).

References

  1. https://www.science.org/doi/10.1126/science.aan4672
  2. https://www.nature.com/articles/d41586-022-04210-5
  3. https://www.fda.gov/vaccines-blood-biologics/cellular-gene-therapy-products/what-gene-therapy
  4. https://www.fda.gov/consumers/consumer-updates/how-gene-therapy-can-cure-or-treat-diseases
  5. https://www.science.org/doi/10.1126/science.aan4672
  6. https://www.science.org/doi/10.1126/science.aan4672
  7. Interview with Greg Newby, 5/29/2023
  8. Interview with Greg Newby, 5/29/2023
  9. www.clinicaltrials.gov
  10. https://rarediseases.info.nih.gov/diseases/634/leber-congenital-amaurosis
  11. https://www.fda.gov/news-events/press-announcements/fda-approves-novel-gene-therapy-treat-patients-rare-form-inherited-vision-loss
Parkinson’s Disease

Cover ASHG Parkinson's Disease FactsheetOver the last 30 years, it has become clear that genetics drives a substantial proportion of the risk for Parkinson’s disease. Research funded by the National Institutes of Health (NIH) continues to shape our mechanistic understanding of Parkinson’s, improve early diagnosis, and contribute to emerging therapeutics that might slow or stop the progression of this disease.

References

  1. https://www.sciencedirect.com/science/article/pii/
    S0896627310003272
  2. https://www.ninds.nih.gov/health-information/disorders/
    parkinsons-disease
  3. https://jneuroinflammation.biomedcentral.com/articles/10.1186/
    s12974-022-02584-x
  4. https://www.nature.com/articles/s10038-022-01058-5
  5. https://www.mdpi.com/2073-4425/12/7/1006
  6. https://www.sciencedirect.com/science/article/pii/S0969996120300577
  7. https://www.thelancet.com/journals/laneur/article/PIIS1474-4422(19)30287-X/fulltext
  8. https://jneuroinflammation.biomedcentral.com/articles/10.1186/s12974-022-02584-x
  9. Interview with Rachel Boyd 6/13/2023
  10. https://www.thelancet.com/journals/laneur/article/PIIS1474-4422(19)30287-X/fulltext
  11. https://jneuroinflammation.biomedcentral.com/articles/10.1186/s12974-022-02584-x
  12. Interview with Rachel Boyd 6/13/2023
  13. https://jneuroinflammation.biomedcentral.com/articles/10.1186/s12974-022-02584-x
  14. Interview with Rachel Boyd 6/13/2023
  15. https://www.mdpi.com/2073-4425/12/7/1006
  16. https://alz-journals.onlinelibrary.wiley.com/doi/10.1002/alz.12328

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