Category Archives: Transhuman News

When European settlers arrived in North America, they were stunned to discover a gorgeous parrot.

The face of the Carolina parakeet was red; its head was yellow, its wings green. Measuring a foot or more from beak to tail, the parakeets thrived in noisy flocks from the Atlantic Coast to what is now Oklahoma.

I have seen branches of trees as completely covered by them as they could possibly be, John James Audubon wrote in 1830. When the parrots landed on a farmers field, they present to the eye the same effect as if a brilliantly coloured carpet had been thrown over them.

Within a century, the Carolina parakeet was gone. In 1918, the last captive died in a Cincinnati zoo. After a few possible sightings in the wild, the species was declared extinct.

Today, scientists are left with little information about the bird. But now a team of researchers has sequenced the genome of a specimen that died a century ago. The genome offers clues to how the Carolina parakeet became Americas native parrot millions of years ago, and how it disappeared.

And the research, published in the journal Current Biology, may help scientists save other birds from its fate.

The new study was led by Carles Lalueza-Fox, an evolutionary biologist at Pompeu Fabra University in Barcelona. In 2016, he was invited to examine a specimen preserved in a private collection.

The parakeet had been collected by the Catalan naturalist Mari Masferrer i Rierola sometime in the early 1900s. He did not record where he killed it.

Researchers had previously harvested bits of DNA from Carolina parakeets, but in recent years Dr. Lalueza-Fox and other experts have developed tools powerful enough to attempt to reconstruct all of the birds DNA its entire genome.

The researchers drilled a piece of bone from the specimens leg and discovered billions of genetic fragments.

The fact that we have a sample in such good condition is quite surprising, said Pere Gelabert, who worked on the project as a graduate student with Dr. Lalueza-Fox. There are a lot of human samples that are 100 years old that have no DNA.

But how to assemble the fragments? The scientists needed to find another genome to serve as a guide. They chose a living relative, the sun parakeet of South America.

The sun parakeets DNA is so similar that the scientists were able to use it to organize the genetic fragments of the Carolina parakeet, producing an accurate reconstruction of the entire genome.

Josefin Stiller, a postdoctoral researcher at the University of Copenhagen, analyzed the genome to create a family tree for the Carolina parakeet. She and her colleagues determined that the Carolina parakeets lineage split from that of sun parakeets about 3 million years ago.

Dr. Stiller believes its no coincidence the Isthmus of Panama emerged around that time. Once North America and South America became connected, many species traveled from one continent to the other.

Maybe the Carolina parakeet was one of these exchanges, she said.

As the birds moved to temperate forests, they adapted. Dr. Lalueza-Fox found over 500 genetic mutations that likely altered the biology of the species.

He was struck by the fact that they liked to eat the spiky seed pods of cocklebur plants. The seeds are loaded with enough toxins to kill a grown man, but Dr. Lalueza-Fox found particular genetic mutations that may have allowed the birds to resist the poison.

The Carolina parakeet genome also offered clues to the history of the species. If the bird came from a small, inbred population, it would have ended up with many identical pairs of genes.

But the new genome indicates that the population had suffered no major crashes over the past million years. Even in the last few generations before extinction, there was little inbreeding.

Whatever killed the Carolina parakeet was something quick that left no mark in the genome, said Dr. Lalueza-Fox.

Beth Shapiro, a paleogeneticist at the University of California, Santa Cruz, who was not involved in the new study, said this pattern has been observed in two other bird species that have recently gone extinct: the passenger pigeon and the great auk.

Only a catastrophic blow delivered by humans could have wiped out those thriving populations, she said: These data underscore the devastating impact that we can have on other species.

But its not clear precisely how we finished off the Carolina parakeet.

Kevin Burgio, a research scientist at the Cary Institute of Ecosystem Studies in Millbrook, N.Y., and his colleagues have been reconstructing the extinction by analyzing hundreds of historical records.

The Carolina parakeet may have been divided into two subspecies that had little contact, he has found. One subspecies lived mainly in the Midwest, while the other was in Florida and parts of neighboring Southern states.

Both populations were thriving as recently as 1800. But by the end of the 19th century, the bird was in trouble.

The Midwestern population crashed first; Dr. Burgio estimated that it became extinct in 1913. The Southern population held on for another three decades, finally disappearing between 1938 and 1944.

Did loggers chop down the parakeets forests? Did farmers shoot them all? Dr. Burgio leans toward another explanation: He suspects a disease drove the birds extinct.

Carolina parakeets may have been attracted to farms by the cockleburs growing there as weeds. The parakeets came into contact with chickens, he speculated and picked up a poultry disease.

Dr. Lalueza-Fox and his colleagues found no signs of bird viruses in the Carolina parakeet they studied. But since its just one specimen, Dr. Burgio argued, scientists cannot rule out a parakeet plague.

Recent scientific advances have led some scientists to ponder the possibility of reviving extinct species. The Carolina parakeet is one candidate for de-extinction.

Knowing its genome brings that possibility a step closer to reality. Someday it might be possible to engineer cells from sun parakeets, rewriting bits of their DNA to match that of Carolina parakeets.

But the necessary gene editing would be an enormous challenge. You have to face a list of 500 changes in protein-coding genes, Dr. Lalueza-Fox said.

And before scientists could even attempt it, they would need to know more about how the birds lived and how they became extinct.

If it was disease, whos to say that disease is not still there? Dr. Burgio asked. You spend tens of millions of dollars to get a few hundred Carolina parakeets, you let them out, and then they run into a chicken and all die.

Thats not really a good use of peoples time and money.

The rest is here:
Once, America Had Its Own Parrot - The New York Times

Gene editing is inexpensive, simple and becoming more widely used inclinical applications.One example is clustered regularly interspaced short palindromic repeats(CRISPR)genome editing, whichis an efficient tool to introduce changes in DNA.Germline editing promises efficiency in eradicating many diseases, but ethical and legal questions persistabout unknown, transgenerational and global consequences.

TheDecember issueof theAMA Journal of Ethics(@JournalofEthics)features numerous perspectives ongoverning human genome editingand gives you an opportunity to earn CME credit.

Articles include:

How Should Physicians Respond When They Learn Patients Are Using Unapproved Gene Editing Interventions?Responding to patients violating U.S.health commerce regulations can be critical when they buy and use unproven interventions.

Using the 4-S Framework to Guide Conversations With Patients About CRISPR.Empathic communication skills help motivate understanding of safety, significance of harms, impact on succeeding generations, and social consequences.

What Should Clinicians Do to Engage the Public About Gene Editing?Clinicians should have a working understanding of gene editing, controversy surrounding its use, and its far-reaching clinical and ethical implications.

How ShouldCRISPRedBabies Be Monitored Over Their Life Course to Promote Health Equity?Transnational monitoring efforts should focus on safety, defining standard of care, and promoting just access to innovation.

In the journalsDecemberpodcast,AMA Senior Policy AnalystSean McConnell,PhDwhose work focuses on genomics and precision medicinediscussesgene editing and CRISPR technology.

ScottJ.Schweikartisa senior research associate for the AMA Council on Ethical and Judicial Affairs and legal editor for theAMA Journal of Ethics. On the podcast, hediscusses what prudent governance requires.

Listen toprevious episodesof the podcast, Ethics Talk, or subscribe iniTunesor other services.

TheAMA Journal of EthicsCME module, Prioritizing Women's Health in Germline EditingResearch,isdesignated by the AMA for a maximum of1AMA PRA Category 1 Credit.

The module is part of theAMA EdHub, anonline platformthat brings togetherhigh-qualityCME, maintenance of certification,and educational contentinone placewithrelevant learningactivities,automated credit tracking and reporting forsome states and specialty boards.

Learn more aboutAMA CME accreditation.

The journals editorial focus is on commentaries and articles that offer practical advice and insights for medical students and physicians.Submit a manuscriptfor publication. The journal alsoinvitesoriginal photographs, graphics, cartoons, drawings and paintings that explore the ethical dimensions of health or health care.

Upcoming issues of theAMA Journal of Ethicswill focus onculture,context andepidemic containment, and onglobal burden of cancer inequality.Sign upto receive email alerts when new issues are published.

Originally posted here:
Human genome editing is here. How should it be governed? - American Medical Association

Genomic research has unlocked the capability to edit the genomes of living cells; yet so far, the effects of such changes must be examined in isolation. In contrast, the complex traits that are of interest in both fundamental and applied research, such as those related to microbial biofuel production, involve many genes acting in concert. A newly developed system will now allow researchers to fine-tune the activity of multiple genes simultaneously.

Huimin Zhao (BSD leader/CABBI/MMG), Steven L. Miller Chair Professor of Chemical and Biomolecular Engineering at the University of Illinois, led the study. Zhao and his research team described their new functional genomics system, which they named multi-functional genome-wide CRISPR (MAGIC), in a recent publication in Nature Communications.

Using MAGIC, we can modulate almost all ~6000 genes in the entire yeast genome individually or in combination to various expression levels, Zhao said. Zhao leads an interdisciplinary research group at Illinois Carl R. Woese Institute for Genomic Biology (IGB) that aims to develop sophisticated synthetic biology tools to support biological systems engineering; MAGIC is one of the latest steps in streamlining such work in yeast.

The C in MAGIC stands for CRISPR, the acronymic that has come to stand for a type of molecular system used to edit DNA. The full name, Clustered Regularly Interspaced Short Palindromic Repeats, refers to DNA sequences that enable bacteria to protect themselves from viruses. Key sections of these sequences help specialized molecules produced by the bacteria to recognize and slice up viral genomes, effectively disabling them.

Researchers design their own DNA sequences that work within CRISPR systems to precisely edit the genomes of living things. The molecules originally borrowed from bacteria have been tweaked so that they can have one of several effects on the gene toward which they are targeted, either increasing, decreasing, or completely eliminating gene activity, according to the way that cuts in the genome are made and repaired.

Until now, though, there has been no easy way to use more than one of these editing modes simultaneously. Researchers could explore the effects of different changes but could not easily combine them, as if playing improv in a jazz trio in which only one instrument could be playing at any given time.

We have developed the tri-functional CRISPR system which can be used to engineer the expression of specific genes to various expression levels, Zhao said. In other words, MAGIC allows researchers to bring two or all three instruments into the music session at once. When combined with the comprehensive library of custom DNA sequences created in Zhaos lab, his group can explore the effects of turning up, turning down, and turning off any combination of genes in the yeast genome simultaneously.

Exploring this genomic harmonizing, the synergistic effects of multiple simultaneous edits, will allow researchers to better understand and to enhance complex traits and behaviors of useful microorganisms. For example, Zhaos group used the MAGIC system to look for combinations of edits that helped their yeast strain tolerate the presence of furfural, a byproduct of cellulosic hydrolysates that can limit the survival and activity of yeast cells used for cellulosic biofuels production. The resulting engineered furfural tolerant yeast strain could produce more biofuels than the parent yeast strain in fermentation.

Zhao and his group introduced sequences from their MAGIC library into yeast and looked for yeast cells that could withstand high levels of furfural. They found that some of surviving cells had taken in MAGIC sequences that altered the activity of genes known to be involved in tolerating furfural; the involvement of other genes was discovered for the first time by this experiment. The team was able to integrate one of these effective MAGIC sequences into the yeast genomic DNA and then test how further sequences might enhance tolerance.

We were most excited about the ability of MAGIC to identify novel genetic determinants and their synergistic interactions in improving a complex phenotype [like furfural tolerance], particularly when these targets must be regulated to different expression levels, Zhao said. Because MAGIC allows researchers to examine how different genetic changes might work in combination to produce an effect, the new system can lead to clearer analyses of how different biological processes are involved in a trait.

Zhao said that among several technical challenges of the work was the development of a screening method that could be carried out efficiently at a large scale, a capability he hopes to expand to other scientific questions and other organisms.

These challenges should be addressed in order to apply MAGIC to other eukaryotic systems such as industrial yeast strains and mammalian cells, he said.

Reference

Lian et al. (2019) Multi-functional genome-wide CRISPR system for high throughput genotypephenotype mapping. Nature Communications. DOI: https://doi.org/10.1038/s41467-019-13621-4

This article has been republished from the following materials. Note: material may have been edited for length and content. For further information, please contact the cited source.

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As If By MAGIC, Scientists Modulate Almost All ~6000 Genes in the Yeast Genome - Technology Networks

Psychology has been heavily criticized lately for its research practices. Most commonly discussed is the so-called replication crisis,whereby efforts to replicate classic and non-classic studies alike have often failed. Psychology has become transfixed on this issue, and at times even paralyzed. But there are clear signs that things are changing for the better.

Researchers, journals, and organizations are pushing for greater transparency, cooperation, data sharing, and pre-registration of research hypotheses, methods, and data analytic strategies. This must all surely be good for the science of psychology.

It is clear that psychology bears the brunt of the criticism about replication. Truth be told, however, many (if not most) fields of science have difficulties replicating their findings. John Ioannidis wrote a very highly read and cited paper on this problem called "Why Most Published Research Findings Are False" that has shaken science deeply. Most people concentrate on psychology, and psychologists certainly like pointing their fingers at themselves, but the deeper we dig, the more we find that this is not a problem limited to psychology, but rather is common in other sciences, including medicine and chemistry.

Psychology certainly has its faults. But psychology is also at the forefront of addressing concerns about research methods, inferential statistics, and best practice recommendations.

Replication failures happen for many reasons, including low statistical power and small samples (that generally fail to generalize to the wider world). One of the problems with trying to reproduce psychological findings concerns the sheer complexity of the human mind. (As a psychologist, and especially as a social psychologist, Im often envious of researchers in other disciplines who study more simple phenomena, particularly those that dont react to being studied!).

It is also important to keep in mind that psychology generally attempts to explain relatively universal truths about humanity, but in reality, we only look at a very narrow slice of humanity, what researchers call WEIRD (Western, Educated, Industrialized, Rich, Democratic) participants. As Henrich et al. note, Within the field of psychology, 95 percentof psychological samples come from countries with only 12percentof the worlds population (Arnett 2008).

Is psychology the only offender in this regard? Sadly, no. Apparently, studies that map the human genome are similarly focused on a very narrow slice of humanity. As of 2009, about 96percentof genomic data was derived from people of (White) European background.

And things have not improved much since. Devaney (2019) reports that our present understanding of the human genome has been largely derived from samples who are White European (78 percent), with very little from those with African (2 percent) or Hispanic or Latin American (1 percent) ancestry. This is staggeringone would reasonably expect that researchers attempting to map humanitys genomes would sample a broad swathe of humanity.

So what is the problem with understanding the psychology of humanity from observing predominantly White, European people in educated and enriched environments? And what is the problem with only using such people to map the human genome?

The question almost answers itself, doesnt it?

We should be invested in examining the full diversity of humanity if we want to understand the full diversity of humanity. One wouldnt study only penguins if one wished to learn about birds as a general category. The same applies to the study of humans, whether their psychological makeup or their genetics.

Failure to examine the diversity of a species is fraught with problems and possible dangers when trying to make claims about the nature of that species. After all, wed risk concluding that birds cant fly if we spent our research energies only in the Antarctic.

Originally posted here:
Variety Is the Spice of Life (In Research Too) - Psychology Today

CRISPR, kick-starting the revolution in drug discovery or A year after the first CRISPR babies, stricter regulations are now in place. read some of the recent headlines. CRISPR, a new gene editing technology, is making waves around the world and Israel is no exception. The Israeli startup eggXTt is preparing to use CRISPR-tech to mark chicken eggs by gender in an effort to reduce waste in the poultry industry, and research labs at institutes around the country regularly make use of CRISPR-tech to make groundbreaking discoveries in the biological sciences.

But how does CRISPR actually work, and what are the limitations of this new technology? CRISPR is often touted by scientists and science journalists as a pair of molecular scissors allowing us to edit our genomes at will in a point-and-click fashion. Although it is tempting to believe these buzzwords, they are not particularly accurate, and can be misleading for the public and policymakers considering the potential impacts of this new technology. After all, our DNA is not a tiny Microsoft Word document that can be altered however we see fit. In this article we will dive into exactly what CRISPR is, what it can and cannot do, and why we might not be seeing designer CRISPR babies for a few more decades (or centuries).

First of all, CRISPR is not a pair of molecular scissors. It is a system of proteins that evolved in bacteria to protect them against viruses. Proteins can take all shapes and sizes, and CRISPR proteins look something like the wire cleaning scrubbers you can find in many kitchens. The oft-mentioned analogy that CRISPR are molecular scissors is doubly misleading, because scissors imply that someone (ie: scientists) are somehow wielding them in a precise manner to cut and paste DNA as they please. This gives the false impression that scientists are the sole possessors of CRISPR knowledge, bestowing upon them the power to alter our genomes at will.

In reality, CRISPR proteins slide along DNA strands, recognizing specific areas by their unique feel. More specifically, the proteins move along the DNA until they find a spot on the DNA that matches perfectly with their recognition site, and then they squeeze down and cause the DNA to break at that point. This is similar to how your handprint fits well into its imprint in the sand. When you think about the wide variety of proteins in the human body (over 100,000) it makes sense that few other proteins would make the same match (a rubber duck or iron nail would not fit well into your handprint either). When the CRISPR proteins move along the DNA, they are only able to make the DNA break at these specific points. Scientists are able to take advantage of this tendency of CRISPR proteins, and can manipulate them to make breaks in DNA at the area they want removed or altered in their experiments. The CRISPR system also consists of a few other components, including a set of guide RNAs that help the CRISPR proteins match up with the DNA of their choice.

Unfortunately, CRISPR proteins are not perfect, and DNA is a very long and repetitive molecule, so it is possible for mistakes to occur. Other areas of DNA may look the same to the CRISPR proteins due to similar or identical sequences, causing the CRISPR proteins to break the DNA at undesired places. Recent research has noted that CRISPR can have a high frequency of off-target DNA breaks, up to 50% in many model systems. These issues mean that once CRISPR is released into a living organism it is sometimes hard to predict where these off target effects will occur. The challenge of off-target effects is one of the reasons CRISPR babies are likely a long way off. As a result a number of institutions and many scientists, including the World Health Organization, have called for a comprehensive ban on genetic modifications to reproductive or germline tissues. Despite this, a team of researchers in China recently managed to create a set of genetically altered twins, resulting in significant controversy. The ethical questions surrounding CRISPR in humans are another compelling reason to wait, particularly because edits of germline tissues like eggs and sperm could result in permanent changes to the human genome.

Another issue with the CRISPR system is that it needs to be inserted into living cells using a viral vector. This means the CRISPR system has to be translated into DNA, coded into a type of non-deadly virus, and injected into cells, which then produce the CRISPR proteins themselves. These viral systems are never 100% successful, and sometimes only enter 15-20% of all cells, which is not ideal for medical-grade treatments.

Despite these barriers there are several medical treatments in development using CRISPR-tech to address difficult-to-treat diseases. One of the most advanced is a CRISPR-based treatment for Duchenne Muscular Dystrophy (DMD), a rare and incurable muscle degenerative disease predominantly affecting children. DMD is caused by mutations in the dystrophin gene and is always fatal with an average patient lifespan of 26 years. Recent studies in mouse models and human heart cells in petri dishes have shown that CRISPR can cause reduction in muscular degeneration symptoms, which are the hallmark of this disease. Because DMD is caused by mutations in one specific region in the genome, scientists and clinicians can take advantage of CRISPRs targeted DNA-breakage effects to chop the affected section out of the genome by targeting two RNA guide probes, one to each side of the mutant piece of DNA. In most cases simply excising the mutant piece of DNA is not sufficient to remove symptoms of a disease. However, in this rare case removing the mutant DNA section allows for a partial improvement in some muscle cells, which is why this treatment has shown promise for clinical applications.

Many of the future CRISPR-based treatments will need to insert a new, healthy piece of DNA in addition to removing the mutant DNA. This is obviously many times more difficult as in addition to mitigating risk from off-target CRISPR effects, it will also be necessary to reduce the risk of the new piece of DNA inserting into the wrong portion of the genome and causing undesirable effects. Nevertheless, trials are now underway to translate this treatment method to the clinic in studies investigating the use of CRISPR for Sickle-Cell Anemia, Cystic Fibrosis and non-Hodgkins Lymphoma.

Although the major benefits of CRISPR-tech are likely decades away, CRISPR is already having significant impacts in the scientific, medical and biotech spheres. As long as this technology is used responsibly, we have much to gain from a world where we could one day become the masters of our own genomes.

This is an article in the series Science & Technology in the Holy Land, a regular column on innovations in science, tech, start-ups and futurism by Jamie Magrill, an MSc, Biomedical Sciences Candidate at the Hebrew University of Jerusalem.

Jamie Magrill is a scientist-scholar and world-traveler with an interest in entrepreneurship and startups, particularly in the biomedical and philanthropic fields, an MSc in Biomedical Sciences Candidate at the Hebrew University of Jerusalem, and a Masa Israel Journey alum.

Link:
CRISPR: Are we the Masters of our Own Genomes? - The Times of Israel

This article, written byMichael Mackley, Dalhousie University, originally appeared on The Conversation and is republished here with permission:

Youve likely heard about direct-to-consumer DNA testing kits. In the past few years, at-home genetic testing has been featured in the lyrics of chart-topping songs, and has helped police solve decades-old cold cases, including identifying the Golden State Killer in California.

Even if you dont find a DNA testing kit under your own Christmas tree, theres a good chance someone you know will.

Whether youre motivated to learn about your health or where your ancestors came from, it is important to understand how these tests work before you spit in the tube.

While exciting, there are things that these genetic testing kits cannot tell users and important personal implications that consumers should consider.

Health, traits and ancestry kits

My main area of research is around clinical genome sequencing, where we look through all of a persons DNA to help diagnose diseases. With a PhD in genetics, I often get questions from friends and family about which direct-to-consumer genetic test they should buy, or requests to discuss results. Most questions are about two types of products: ancestry and health kits.

The most popular ancestry kit is from AncestryDNA. These kits are aimed at giving users insight into where their ancestors might be from. They can also connect users with family members who have used the service and have opted into having their information shared. Another option is Living DNA, which has a smaller dataset but provides more precise information on the U.K. and Ireland.

The most popular health kit is from 23andMe. Depending on the users preference, results include information on predispositions for diseases such as diabetes and Alzheimers, as well as on the likelihood of having certain traits such as hair colour and taste. This company also offers ancestry analysis, as well as ancestry and trait-only kits that dont provide health information. The kit offered by the newer MyHeritage DNA also provides a combined ancestry and health option.

There are other kits out there claiming to evaluate everything from athletic potential to relationship compatibility. But gift-buyers beware: for most of these, in contrast to those above, the evidence is seriously lacking.

How these tests work

For all of these tests, customers receive a kit in the mail. The kits contain instructions for collecting a saliva sample, which you mail back to the company for analysis.

During this analysis, these popular tests do not look at the entire genome. Instead, they employ single nucleotide polymorphism (SNP) genotyping. As humans we all share 99.9 per cent of our DNA. SNPs are essentially what is left: all of the points at which we can differ from our neighbour, making us unique. SNP genotyping looks at a subset of these sites to survey the users genome.

These SNPs are then compared to reference datasets of individuals with known conditions or ancestry. Most results are based on the SNPs shared with a given group. For example, if your results say that you are 42 per cent Southeast Asian, its because 42 per cent of your SNPs were most likely to have come from a group in the reference dataset labelled Southeast Asian. The same goes for traits and health conditions.

How they differ from clinical tests

Direct-to-consumer genetic tests are not a substitute for clinical assessment. The methods used differ dramatically from what is done to diagnose genetic diseases.

In a clinical setting, when suspicion of a genetic condition is high, entire genes are often analyzed. These are genes where we understand how changes in the DNA cause cellular changes that can cause the disease. Furthermore, clinical assessment includes genetic counselling that is often key to understanding results.

In contrast, findings from direct-to-consumer genetic tests are often just statistical links; there is commonly no direct disease-causing effect from the SNPs.

Users may interpret a result as positive, when the risk increase is only minimal, or entirely false. These tests can also give false reassurance because they do not sequence genes in their entirety and can miss potentially harmful variants.

Before you spit in a tube, stop and think

These tests are exciting: they introduce new audiences to genetics and get people thinking about their health. Theyre also helping to build vast genetic databases from which medical research will be conducted.

But for individual users, there are important caveats to consider. Recent reports have questioned the accuracy of these tests: identical twins can receive different results. Furthermore, a lack of diversity in the reference data has caused particular concern regarding accuracy of results for ethnic minorities.

There are also concerns about the way these tests emphasize racial categories that science considers to be social constructs and biologically meaningless.

A recent paper in the British Medical Journal suggests four helpful questions for users to consider. First, users should ask themselves why they want the test. If it is to answer a medical question, then they should speak with their doctor. Users should also think about how they might feel when they receive results containing information they would rather not know.

Users should also consider issues around security and privacy. It is important to read the fine print of the service youre using, and determine whether youre comfortable sharing personal information, now and in the future.

In Canada, policies around genetics have not always kept up with the science. At present, direct-to-consumer genetic testing is unregulated. And, although Canadians have legislative protections against genetic discrimination, those laws are being challenged in the courts, and could change.

Finally, it may also be worth discussing DNA testing with relatives. We share half of our genome with our immediate family members, and smaller fractions with more distant relatives. Genetic results not only affect us, but our family.

Bottom line: Its all for fun

Some users may feel they learn more about themselves. For others, results may bring people closer together not a bad outcome for the holiday season.

At the end of the day, these genetic testing kits are for entertainment: they should not be used to assess health risk in any meaningful way.

If you have any questions related to your health or a genetic disease, discuss these with your family doctor or a suitable health-care professional.

Michael Mackley, Junior Fellow, MacEachen Institute for Public Policy and Governance; Medical Student, Dalhousie University

This article is republished from The Conversation under a Creative Commons license. Read the original article.

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BEYOND LOCAL: DNA tests might be a fun holiday gift, but beware of the hype - ThoroldNews.com

BRISBANE, Calif.--(BUSINESS WIRE)--Sangamo Therapeutics, Inc. (Nasdaq: SGMO), a genomic medicine company, is hosting an R&D Day today beginning at 8am Eastern Time. During the event, Sangamo executives and scientists plan to provide updates across the Companys clinical and preclinical pipeline, as well as an overview of manufacturing capabilities to support clinical and commercial supply. A live webcast link will be available on the Events and Presentations page of the Sangamo website

The talent, R&D capabilities, manufacturing expertise, and operations infrastructure we have brought to Sangamo have enabled us to advance a genomic medicine pipeline that spans multiple therapeutic areas and now also extends into late-stage development, said Sandy Macrae, CEO of Sangamo. As we make progress in clinical development, we gain insights into the use of our technology and are applying those insights as we advance new programs, such as the gene therapy for PKU and the genome regulation candidates for CNS diseases we are announcing today.

Macrae continued: We will continue to pursue a dual approach of retaining certain programs for our proprietary pipeline while also establishing pharmaceutical partnerships to gain access to therapeutic area expertise and financial, operational, and commercial resources. Strategic collaborations will be a particularly important consideration as we advance programs for diseases affecting large patient populations.

R&D Day updates on clinical and preclinical pipeline programs:

Gene therapy product candidates for hemophilia A, Fabry disease, and PKU

SB-525 is a gene therapy product candidate for hemophilia A being developed by Sangamo and Pfizer under a global development and commercialization collaboration agreement. The transfer of the SB-525 IND to Pfizer is substantially completed. Pfizer is advancing SB-525 into a Phase 3 registrational study in 2020 and has recently begun enrolling patients into a Phase 3 lead-in study.

At R&D Day, Sangamo executives are presenting data from the SB-525 program which were recently announced at the American Society of Hematology (ASH) annual meeting.

The cassette engineering, AAV engineering and manufacturing expertise which Sangamo used in the development of SB-525 are also being applied to the ST-920 Fabry disease program, which is being evaluated in a Phase 1/2 clinical trial, as well as to the newly announced ST-101 gene therapy program for PKU, which is being evaluated in preclinical studies with a planned IND submission in 2021.

Engineered ex vivo cell therapy candidates for beta thalassemia, kidney transplantation, and preclinical research in multiple sclerosis (MS)

Sangamo is providing an overview of the Companys diversified cell therapy pipeline this morning. Cell therapy incorporates Sangamos experience and core strengths, including cell culture and engineering, gene editing, and AAV manufacturing. At R&D Day, Sangamo scientists today are reviewing the early data presented this month at ASH from the ST-400 beta thalassemia ex vivo gene-edited cell therapy program, which is being developed in partnership with Sanofi.

Sangamo is also providing updates on the companys CAR-TREG clinical and preclinical programs. CAR-TREGS are regulatory T cells equipped with a chimeric antigen receptor. Sangamo is the pioneer in CAR-TREGS, which may have the potential to treat inflammatory and autoimmune diseases. TX200 is being evaluated in the STEADFAST study, the first ever clinical trial evaluating a CAR-TREG cell therapy. Tx200 is being developed for the prevention of immune-mediated organ rejection in patients who have received a kidney transplant, a significant unmet medical need. Results from this trial will provide data on safety and proof of mechanism, building a critical understanding of CAR-TREGS in patients, and may provide a gateway to autoimmune indications such as Crohns disease and multiple sclerosis (MS). Sangamo is also presenting preclinical murine data demonstrating that CAR-TREGS accumulate and proliferate in the CNS and reduce a marker of MS.

In vivo genome editing optimization

Clinical data presented earlier this year provided evidence that Sangamo had successfully edited the genome of patients with mucopolysaccharidosis type II (MPS II) but also suggested that the zinc finger nuclease in vivo gene editing reagents were under-dosed using first-generation technology. Sangamo has identified potential improvements that may enhance the potency of in vivo genome editing, including increasing total AAV vector dose, co-packaging both ZFNs in one AAV vector, and engineering second-generation AAVs, ZFNs, and donor transgenes.

Genome regulation pipeline candidates targeting neurodegenerative diseases including Alzheimers and Parkinsons

Sangamo scientists today are presenting data demonstrating that the companys engineered zinc finger protein transcription factors (ZFP-TFs) specifically and powerfully repress key genes involved in brain diseases including Alzheimers, Parkinsons, Huntingtons, ALS, and Prion diseases. Sangamo is advancing its first two genome regulation programs toward clinical development:

Sangamo scientists are also presenting data demonstrating progress in the development of new AAV serotypes for use in CNS diseases.

Manufacturing capabilities and strategy

Sangamo is nearing completion of its buildout of a GMP manufacturing facility at the new Company headquarters in Brisbane, CA. This facility is expected to become operational in 2020 and to provide clinical and commercial scale manufacturing capacity for cell and gene therapy programs. The Company has also initiated the buildout of a cell therapy manufacturing facility in Valbonne, France. Sangamos manufacturing strategy includes in-house capabilities as well as the use of contract manufacturing organizations, including a long-established relationship with Thermo Fisher Scientific for clinical and large-scale commercial AAV manufacturing capacity.

R&D Day webcast

A live webcast of the R&D Day, including audio and slides, will be available on the Events and Presentations page of the Sangamo website today at 8am Eastern Time. A replay of the event will be archived on the website.

About Sangamo Therapeutics

Sangamo Therapeutics is committed to translating ground-breaking science into genomic medicines with the potential to transform patients lives using gene therapy, ex vivo gene-edited cell therapy, and in vivo genome editing and gene regulation. For more information about Sangamo, visit http://www.sangamo.com.

Sangamo Forward Looking Statements

This press release contains forward-looking statements within the meaning of the "safe harbor" provisions of United States securities law. These forward-looking statements include, but are not limited to, the therapeutic potential of Sangamos product candidates; the design of clinical trials and expected timing for milestones, such as enrollment and presentation of data, the expected timing of release of additional data, plans to initiate additional studies for product candidates and timing and design of these studies; the expected benefits of Sangamos collaborations; the anticipated capabilities of Sangamos technologies; the research and development of novel gene-based therapies and the application of Sangamos ZFP technology platform to specific human diseases; successful manufacturing of Sangamos product candidates; the potential of Sangamos genome editing technology to safely treat genetic diseases; the potential for ZFNs to be effectively designed to treat diseases through genome editing; the potential for cell therapies to effectively treat diseases; and other statements that are not historical fact. These statements are based upon Sangamos current expectations and speak only as of the date hereof. Sangamos actual results may differ materially and adversely from those expressed in any forward-looking statements. Factors that could cause actual results to differ include, but are not limited to, risks and uncertainties related to dependence on the success of clinical trials; the uncertain regulatory approval process; the costly research and development process, including the uncertain timing of clinical trials; whether interim, preliminary or initial data from ongoing clinical trials will be representative of the final results from such clinical trials; whether the final results from ongoing clinical trials will validate and support the safety and efficacy of product candidates; the risk that clinical trial data are subject to differing interpretations by regulatory authorities; Sangamos limited experience in conducting later stage clinical trials and the potential inability of Sangamo and its partners to advance product candidates into registrational studies; Sangamos reliance on itself, partners and other third-parties to meet clinical and manufacturing obligations; Sangamos ability to maintain strategic partnerships; competing drugs and product candidates that may be superior to Sangamos product candidates; and the potential for technological developments by Sangamo's competitors that will obviate Sangamo's gene therapy technology. Actual results may differ from those projected in forward-looking statements due to risks and uncertainties that exist in Sangamos operations. This presentation concerns investigational drugs that are under preclinical and/or clinical investigation and which have not yet been approved for marketing by any regulatory agency. They are currently limited to investigational use, and no representations are made as to their safety or effectiveness for the purposes for which they are being investigated. Any discussions of safety or efficacy are only in reference to the specific results presented here and may not be indicative of an ultimate finding of safety or efficacy by regulatory agencies. These risks and uncertainties are described more fully in Sangamo's Annual Report on Form 10-K for the year ended December 31, 2018 as filed with the Securities and Exchange Commission on March 1, 2019 and Sangamo's Quarterly Report on Form 10-Q for the quarter ended September 30, 2019 that it filed on or about November 6, 2019. Except as required by law, we assume no obligation, and we disclaim any intent, to update these statements to reflect actual results.

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Sangamo Highlights Advancements in Genomic Medicine Pipeline and Expanded R&D and Manufacturing Capabilities at R&D Day - Business Wire

The building housing the Ministry of Health, Labor and Welfare is seen in Tokyo's Chiyoda Ward. (Mainichi/Kimi Takeuchi)

TOKYO -- Japan will perform full-genome analysis on medical samples from as many as 93,000 people under an action plan revealed by the country's health ministry.

The blood, cancer cells and other samples are held at hospital and research institute biobanks around the country, and will be prioritized for analysis for a number of years. Special priority will be placed on samples from some 22,000 people expected to be useful for research in hopes of discovering details of cancer and intractable diseases and drugs for their treatment.

Analyzing a person's entire genome could allow researchers to identify genetic causes or trigger mechanisms for certain diseases that may not be apparent from looking at just one part of the patient's genes. There are also hopes that building a database combining results of the full-genome analysis of cancer patients with clinical information will help Japan formulate broader cancer-fighting measures.

According to the action plan, cancer patient samples make up some 65,000 of the total set for full genome analysis, while about 28,000 are from people with other intractable conditions. For the analysis, a sample genome needs to be compared with data such as a healthy blood sample and the genetic makeup of the patient's parents. That being the case, the plan will in fact require full analysis of some 168,000 genomes. Furthermore, new samples from the patients will also be obtained for analysis.

In the coming years, blood and cancer cell samples from the 22,000 people stored at biobanks in the country will be given priority for analysis, with the subjects' consent. These initial studies will seek the genetic causes of cancers with low 5-year survival rates, rare and hereditary cancers as well as intractable illnesses that could not be identified through partial genome analysis.

However, there remain many unanswered questions about whether and to what degree information from full-genome breakdowns will lead to new and effective diagnostic, treatment, and drug options. The Ministry of Health, Labor and Welfare will examine the results from studies using the priority samples, and clarify a target number of specimens needed for analysis in cases where the development of diagnostic and treatment methods can be expected.

Full-genome analysis medical research projects are proceeding apace under government-backed programs in other countries. Britain, for example, began full-genome analysis for 100,000 people with cancer or rare diseases in 2018. The U.K. government is aiming to analyze the genomes of a million people by 2023.

(Japanese original by Sooryeon Kim, Lifestyle and Medical News Department)

Link:
Japan gov't plans full-genome analysis on 93000 people to boost medical research - The Mainichi