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UW Medicine joins new NIH effort on rare genetic conditions

2021-07-16 - 2021-07

UW Medicine in Seattle will be part of a new National Institutes of Health effort to deploy innovative methods and approaches to find the genetic causes of unsolved Mendelian conditions. These conditions are suspected of being the result of changes or mutation in genes or other genomic differences – that have not yet been discovered. More than 400 million people worldwide have been diagnosed with one of about 7,000 Mendelian conditions. Just a few examples of Mendelian conditions in which the genetic basis has already been determined are cystic fibrosis, sickle cell anemia, hemophilia, muscular dystrophy, color blindness, and Tay Sachs disease. But there are many more disorders for which answering questions for patients, families, and their clinicians still requires discovery of the underlying gene.

WHO issues new ethics recommendations for human genome editing

2021-07-13 - 2021-07

The World Health Organization (WHO) has released two new companion reports that provide the first global recommendations for using human genome editing as a tool for public health. Currently, countries can choose their own laws and regulations about human genome-editing, and these reports aim to give guidance to these policies. Human Genome Editing: a framework for governance and Human Genome Editing: recommendations emphasise safety, effectiveness and ethics. “Human genome editing has the potential to advance our ability to treat and cure disease, but the full impact will only be realised if we deploy it for the benefit of all people, instead of fuelling more health inequity between and within countries,” says Tedros Adhanom Ghebreyesus, WHO Director-General. The reports followed a global consultation on the use of genome editing techniques in humans, and included a diverse participant pool of scientists, researchers, patients, and indigenous peoples. The full consultation took two years to complete. The benefits of human genome editing are vast; they may provide treatments for genetic disease, and have great potential in cancer treatment.

COVID-19: Geneticists criticize poor sequencing efforts in US

2021-07-21 - 2021-07

Genetic sequencing of SARS-CoV-2, the virus that causes COVID-19, is vital to track the spread of existing variants and quickly identify new variants of concern. Writing in the journal PLOS Genetics, scientists say the United States has failed to contribute adequately to these global surveillance efforts. They blame poor central coordination and, until recently, a lack of funding. “Know your enemy” has been the mantra of generals at least since the 5th century BC when the Chinese military strategist Sun Tzu coined the phrase in The Art of War. The principle is just as important when your enemy is a rapidly evolving virus that has claimed the lives of more than 4 million people worldwide. Traditionally, surveillance of infectious diseases by public bodies, such as the World Health Organization (WHO) and the Centers for Disease Control and Prevention (CDC), has focused on data such as case numbers, hospitalizations, and deaths.

An ancestral recombination graph of human, Neanderthal, and Denisovan genomes

2021-07-16 - 2021-07

Much of the current genetic variation within humans predates the split, estimated at 520 to 630 thousand years (ka) ago (1), between the populations that would become modern humans and Neanderthals. The shared genetic variation present in our common ancestral population is still largely present among humans today and was present in Neanderthals up until the time of their extinction. This phenomenon, which is known as incomplete lineage sorting (ILS), means that any particular human will share many alleles with a Neanderthal that are not shared with some other humans. Therefore, humans often share genetic variation with Neanderthals not by admixture but rather by shared inheritance from a population ancestral to us both. Because of this, any effort to map ancestry from archaic hominins in human genomes must disentangle admixture from ILS. Furthermore, a technique able to identify both admixture and ILS could produce a catalog of uniquely human genomic regions that is free of both and thereby shed light on the evolutionary processes that have been important in our origin as a unique species. Ancestral recombination graph (ARG) inference (2) is a powerful starting point for such an analysis. An ARG can be conceptualized as a series of trees, mapped to individual sites, over phased haplotypes (chromosomes) in a panel of genomes. Ancestral recombination events, or sites at which chromosome segments with different histories were joined together by historical recombination, form boundaries between trees. Each ancestral recombination event manifests as a clade of haplotypes, all of which descend from the first ancestral haplotype to have it, moving from one position in the tree upstream of the event to a new position in the downstream tree (3). ARGs are complete descriptions of phylogenomic datasets and present for recombining genomes what single trees present for nonrecombining genomes, i.e., a complete description of their genetic relationships. As prior techniques for ancestry mapping can be thought of as summaries of the ARG, higher resolution ancestry maps could be produced if the ARG were known. In addition, the ARG can be used to estimate the time to most recent common ancestor (TMRCA) between admixed and admixer haplotypes, providing additional information about historical admixture between humans and archaic hominins.

International Conference on Human Genetics and Genetics Disorder

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UW Medicine joins new NIH effort on rare genetic conditions

WHO issues new ethics recommendations for human genome editing

COVID-19: Geneticists criticize poor sequencing efforts in US

An ancestral recombination graph of human, Neanderthal, and Denisovan genomes

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