Decoding complex traits Have you ever wondered why your sibling or best friend is taller than you? The size of certain parts of their DNA may be to blame. DNA encodes proteins which are the building blocks of life. Changes in DNA can affect the protein product, making it work differently or not work at all. New research revealed that DNA changes called variable num- bers of tandem repeats (VNTRs) are linked to several human traits. VNTRs are sequences of DNA that are seven or more base pairs long and are repeated a varying number of times in each individual. Researchers found that differences in the number of repeats across individuals might explain variation in traits like height. The study scrutinized 118 VNTRs in protein-coding regions in more than 400,000 UK Biobank participants. Five distinct VNTRs seemed to be causative of certain traits. One finding strongly associ-
ated a VNTR in a gene called ACAN with height. Specifically, they iden- tified a 3.4-centimeter difference in the heights of individuals with 22 and 29 repeats in this region. Although the study only focused on a small number of VNTRs, hundreds of thousands of these repeats are in the human genome. This study opens the door to addi- tional research that may provide further evidence for determining polygenic risk scores that would provide insight into disease risk. n
Human gene editing guidelines developed
Although human genome editing has the potential to im- prove human health and medicine, it also raises important ethical and social issues. In 2018, after a Chinese scientist announced that he had genetically modified embryos that became twin babies, the World Health Organization (WHO) established an expert advisory committee tasked with devel- oping international standards for human genome editing. In July 2021, WHO released two reports outlining global recommendations for regulating human genome editing, with an emphasis on ensuring ethical and equitable use of the technology. The reports present a framework to help people who regulate human genome editing, providing suggestions on how such regulations could be implemented and enforced. Within the reports, the committee also outlines nine key recommendations related to the ethics of human genome editing, including the establishment of an international regis- try of gene-editing experiments and ways for whistleblowers to report illegal and/or unethical research. It also provides several hypothetical scenarios that the proposed strategies may help prevent, such as conducting gene editing trials in low-income countries to develop therapies that would ulti- mately be too costly for all but the wealthiest ones to buy. Throughout the reports, the WHO reiterates its existing opposition to using genome editing on germline cells (sperm and egg cells) until researchers have a better understanding of the implications it could hold. Overall, the recommenda- tions in the report form an important first step in the uniform regulation of human genome editing. n REFERENCES: www.who.int/news/item/12-07-2021-who-issues-new- recommendations-on-human-genome-editing-for-the-advancement-of- public-health WHO Expert Advisory Committee on Developing Global Standards for Governance and Oversight of Human Genome Editing. Human Genome Editing: recommendations. Geneva: World Health Organization; 2021. ISBN: 978-92-4-003038-1.
REFERENCE: Mukamel, R. E., et al. Protein-coding repeat polymorphisms strongly shape diverse human phenotypes. Science (2021) 373:6562 1499-1505. DOI: 10.1126/science.abg8289
The American Society of Human Genetics recently released a report detailing how human genetics and genomics research impacts the U.S. economy, society, and healthcare. In the United States, this field supports 850,000 jobs and generates $15.5 billion in tax revenue every year….that’s a higher dollar amount than the gross domestic profit of one-third of the countries in the world. The annual federal investment of more than $3 billion in human genetics and genomics has a return on investment of nearly five times that amount. n Genetics and genomics impacts U.S. economy with jobs and revenue
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SCIENCE FOR LIFE
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