Category Archives: Transhuman News

In this photo provided by Oregon Health & Science University, taken through a microscope, human embryos grow in a laboratory for a few days after researchers used gene editing technology to successfully repair a heart disease-causing genetic mutation. The work, a scientific first led by researchers at Oregon Health & Science University, marks a step toward one day preventing babies from inheriting diseases that run in the family. ( Oregon Health & Science University via AP)

By Johnny Kung

Mon., Aug. 21, 2017

Recently, an international team of scientists successfully corrected a disease-causing gene in human embryos, using a gene editing technique called CRISPR. This has led to much excitement about the prospects of curing debilitating diseases in entire family lineages.

At the same time, the possibility of changing embryos genes has renewed fear about designer babies. The hype in both directions should be tempered by the fact that both these scenarios are some ways off a lot more work will need to be done to improve the techniques safety and efficacy before it can be applied in the clinic.

And because a lot of diseases, as well as other physical and behavioural characteristics, are controlled by the complex interaction of many genes with each other and with the environment, in many cases simple genetic fixes may never be possible.

But while the technology is still in early stages, now is the time to have frank, open and societywide conversations about how gene editing should be moving forward and genetic medicine more broadly, including the use of advanced genetic testing and sequencing to diagnose disease, personalize medical treatments, screening babies, etc.

We must raise broad awareness of the health benefits as well as the personal, social and ethical implications of genetics. This is important for individuals both to understand their options when making decisions about their own health care, and to participate as informed citizens in democratic deliberations about whether and how genetic technologies should be developed and applied.

In the U.S., affordability and insurance coverage strongly influence access to genetic medicine. In Canada, the reality of strapped budgets means access is far from equal either. But our public health-care system means it is at least conceivable that these technologies will eventually be available to a higher proportion of people who need them.

For example, OHIP currently pays for genetic testing and counselling for a number of diseases, such as http://www.mountsinai.on.ca/care/mkbc/medical-services/genetic-testingBRCA testingEND for breast and ovarian cancer, for patients who satisfy certain eligibility criteria. It also covers a kind of genetic screening tests called non-invasive prenatal testing (NIPT) for eligible pregnant women. Precisely because of this potential for widespread adoption, there is all the greater need for broad-based conversations about genetics.

Crucially, to ensure that the largest possible cross section of society will benefit from, and not be harmed by, advances in genetic technologies, these conversations must include the voices of all communities.

This is especially true for those who, for well-justified historical reasons, may harbour deep distrust of the biomedical establishment. In the U.S., for much of the 20th century, the eugenics movement had resulted in a range of sterilization programs, discriminatory policies and scientific abuses (such as the infamous Tuskegee syphilis trials) that disproportionately targeted the poor and, especially, racial minorities such as African Americans.

While the eugenics movement might have been less established in Canada, where it did occur (e.g., the sterilization program in Alberta or the Indian hospitals in B.C.) it had most heavily affected Indigenous communities. In both countries, this shameful history has led to lower trust and usage of the health-care system by the affected communities.

As genetic medicine advances, many scientists and health researchers are pointing out the importance of having the diversity of human populations represented in genetic studies in order to gain medical insights that can benefit everyone. If we fail to fully engage these under-represented communities and ensure that genetics is not just another way to exploit and discriminate against them, then we risk worsening this historical and ongoing injustice.

New genetic technologies, such as gene editing, also bring issues of disability rights into sharper focus. While designer babies may not be an immediate concern, even the possibility of selecting and changing our offsprings characteristics raises thorny questions.

For example, what conditions count as medically necessarily to treat how about deafness, dwarfism, autism, or intersex conditions? Ultimately, it is about what kinds of people get to live, and who gets to make those decisions. Many disability rights advocates (e.g., the Down syndrome community) are already voicing concerns about what these emerging technologies mean for how their communities are seen and valued today.

We must make sure that the conversations around genetics are not only about generalized notions of safety or effectiveness, or concerns of playing God. These conversations must also encompass questions of access and justice, and acknowledge that the benefits and harms of genetic technologies, like any new technologies, are not distributed equally.

And these conversations must involve all communities (be they of different racial or ethnic background, gender or sexuality, and physical or cognitive abilities) in a way that ensures their voices are respected and heard.

This is a task that will involve concerted efforts from scientists, funders and industry, to build trust with these communities and to genuinely listen and respond to their concerns. And it will need to be done in collaboration with many partners, including schools, community and faith groups, and the art/entertainment industry.

The ability to understand and, perhaps one day, change our genetics has huge potential to improve human well-being. Lets make sure that everyone will enjoy these benefits, and that no communities are left behind, or worse yet, harmed in the process.

Johnny Kung is the director of new initiatives for the Personal Genetics Education Project (www.pged.org ) at Harvard Medical Schools Department of Genetics.

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Designer babies the not most urgent concern of genetic medicine - Toronto Star

In 2013, University of Virginia researcher Michael McConnell published research that would forever change how scientists study brain cells.

McConnell and a team of nationwide collaborators discovered a genetic mosaic in the brains neurons, proving that brain cells are not exact replicas of each other, and that each individual neuron contains a slightly different genetic makeup.

McConnell, an assistant professor in the School of Medicines Department of Biochemistry and Molecular Genetics, has been using this new information to investigate how variations in individual neurons impact neuropsychiatric disorders like schizophrenia and epilepsy. With a recent $50,000 grant from the Bow Foundation, McConnell will expand his research to explore the cause of a rare genetic disorder known as GNAO1 so named for the faulty protein-coding gene that is its likely source.

GNAO1 causes seizures, movement disorders and developmental delays. Currently, only 50 people worldwide are known to have the disease. The Bow Foundation seeks to increase awareness so that other probable victims of the disorder can be properly diagnosed and to raise funds for further research and treatment.

UVA Today recently sat down with McConnell to find out more about how GNAO1 fits into his broader research and what his continued work means for all neuropsychiatric disorders.

Q. Can you explain the general goals of your lab?

A. My lab has two general directions. One is brain somatic mosaicism, which is a finding that different neurons in the brain have different genomes from one another. We usually think every cell in a single persons body has the same blueprint for how they develop and what they become. It turns out that blueprint changes a little bit in the neurons from neuron to neuron. So you have slightly different versions of the same blueprint and we want to know what that means.

The second area of our work focuses on a new technology called induced pluripotent stem cells, or iPSCs. The technology permits us to make stem cell from skin cells. We can do this with patients, and use the stem cells to make specific cell types with same genetic mutations that are in the patients. That lets us create and study the persons brain cells in a dish. So now, if that person has a neurological disease, we can in a dish study that persons disease and identify drugs that alter the disease. Its a very personalized medicine approach to that disease.

Q. Does cell-level genomic variety exist in other areas of the body outside the central nervous system?

A. Every cell in your body has mutations of one kind or another, but brain cells are there for your whole life, so the differences have a bigger impact there. A skin cell is gone in a month. An intestinal cell is gone in a week. Any changes in those cells will rarely have an opportunity to cause a problem unless they cause a tumor.

Q. How does your research intersect with the goals of the Bow Foundation?

A. Let me back up to a little bit of history on that. When I got to UVA four years ago, I started talking quite a lot with Howard Goodkin and Mark Beenhakker. Mark is an assistant professor in pharmacology. Howard is a pediatric neurologist and works with children with epilepsy. I had this interest in epilepsy and UVA has a historic and current strength in epilepsy research.

We started talking about how to use iPSCs the technology that we use to study mosaicism to help Howards patients. As we talked about it and I learned more about epilepsy, we quickly realized that there are a substantial number of patients with epilepsy or seizure disorders where we cant do a genetic test to figure out what drug to use on those patients.

Clinical guidance, like Howards expertise, allows him to make a pretty good diagnosis and know what drugs to try first and second and third. But around 30 percent of children that come in with epilepsy never find the drug that works, and theyre in for a lifetime of trial-and-error. We realized that we could use iPSC-derived neurons to test drugs in the dish instead of going through all of the trial-and-error with patients. Thats the bigger project that weve been moving toward.

The Bow Foundation was formed by patient advocates after this rare genetic mutation in GNAO1 was identified. GNAO1 is a subunit of a G protein-coupled receptor; some mutations in this receptor can lead to epilepsy while others lead to movement disorders.

Were still trying to learn about these patients, and the biggest thing the Bow Foundation is doing is trying to address that by creating a patient registry. At the same time, the foundation has provided funds for us to start making and testing iPSCs and launch this approach to personalized medicine for epilepsy.

In the GNAO1 patients, we expect to be able to study their neurons in a dish and understand why they behave differently, why the electrical activity in their brain is different or why they develop differently.

Q. What other more widespread disorders, in addition to schizophrenia and epilepsy, are likely to benefit from your research?

A. Im part of a broader project called the Brain Somatic Mosaicism Network that is conducting research on diseases that span the neuropsychiatric field. Our lab covers schizophrenia, but other nodes within that network are researching autism, bipolar disorder, Tourette syndrome and other psychiatric diseases where the genetic cause is difficult to identify. Thats the underlying theme.

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Researcher Seeks to Unravel the Brain's Genetic Tapestry to Tackle Rare Disorder - University of Virginia

August 22, 2017 A depiction of the double helical structure of DNA. Its four coding units (A, T, C, G) are color-coded in pink, orange, purple and yellow. Credit: NHGRI

A group of researchers from the National University of Singapore has found that CD38 and CD157 genes that regulate oxytocin, the supreme human social hormone, are associated with the sociality of young individuals. They found that young adults who have higher expression of the CD38 gene as well as differences in CD157 gene sequence are friendlier and more socially adept than others. They have more close friends and show greater social skills

Researchers found that CD38 and CD157 genes that regulate oxytocin, the supreme human social hormone, are associated with the sociality of young individuals

Why some individuals seek social engagement and friendship while others shy away may well be dependent on the expression and sequence of two genes in their bodies.

This novel study of gene expression (i.e. how much of a particular gene is produced in the body) supports the increasing importance of the oxytocin network and its impact on shaping social and communication skills that are important for building friendships. The findings were published in the scientific journal Psychoneuroendocrinology.

The study was conducted by Professor Richard Ebstein and recent NUS PhD graduate, Dr Anne Chong, from the Department of Psychology at NUS Faculty of Arts and Social Sciences, along with Professor Chew Soo Hong from the Faculty's Department of Economics and Professor Lai Poh San from the Department of Paediatrics at NUS Yong Loo Lin School of Medicine.

The team studied over 1,300 healthy young Chinese adults in Singapore in a non-clinical setting. They investigated the correlation between the expression of the CD38 gene and CD157 gene sequence, both of which have been implicated in autism studies, and an individual's social skills as captured by three different questionnaires. These questionnaires evaluated the participants' overall ability to engage in social relationships; their value on the importance of and interest in friendships as well as the number of close friends/confidants they have.

Link between CD38 and CD157 genes, oxytocin and social skills

"We believe that studying the expression of genes captures more information than simple structural studies of DNA sequence since it is the expression of genes that ultimately determine how a gene impacts our traits. Oxytocin plays an important role in these behaviours so it made good sense to our team to study the oxytocin network in relation to social skills important for friendships," said Prof Ebstein.

The results from the study showed that participants with higher expression of CD38 have more close friends, and this association was observed more prevalently among the male participants.

"Male participants with the higher gene expressions displayed greater sociality such as preferring activities involving other people over being alone, better communication and empathy-related skills compared to the other participants. Meanwhile, participants with lower CD38 expression reported less social skills such as difficulty in "reading between the lines" or engaging less in social chitchat, and tend to have fewer friends," said Dr Chong who is the first author of the study and worked under the supervision of Prof Ebstein.

Interestingly, the researchers found that a variation in the CD157 gene sequence that was more common in autism cases in a Japanese study, was also associated with the participants' innate interest in socialising and building relationships.

The evidence suggests that oxytocin, and the CD38 and CD157 genes that govern its release, contribute to individual differences in social skills from one extreme of intense social involvement (i.e. many good friendships and good relationships with peers) to the other extreme of avoiding social contacts with other people that is one of the characteristics of autism. There is no cause for worry however, as the researchers note that majority of people are in between the two extremes.

The researchers found that higher expression of the CD38 gene and differences in the CD157 gene sequence account for 14 per cent of the variance in social skills in the general population a remarkable finding, especially since typically less than two per cent of findings in behavioural genetic association studies rely on genetic variations alone.

"Moreover, while expressed genes can influence behaviours, our own experiences can influence the expression of genes in return. So, whether the genes are expressed to impact our behaviours or not, depend a lot on our social environments. For most people, being in healthy social environments such as having loving and supportive families, friends and colleagues would most likely lessen the effects from disadvantageous genes," said Dr Chong.

The findings from the study help deepen the understanding of the relationship between human sociability and oxytocin. By releasing the social hormone, the CD38 and CD157 genes not only regulate social life at a cellular level but also contribute to the development of human social skills important in establishing social bonds and friendship.

"In our study, we see that an individual's genetic makeup could only go so far as predicting one's social predisposition but does not necessarily trigger the trait since, in the end, it is the expression of gene that determines so. This knowledge would be helpful in coming up with future intervention therapies or targeted treatments to achieve desirable outcomes for individuals with special needs," said Prof Ebstein.

For instance, while there is already considerable research interest in using oxytocin therapy to improve the social skills of individuals with autism, the results so far have been mixed. The findings in this study point to an alternative research direction towards treatments based on new drugs that may mimic or enhance the functions of the CD38 and CD157 genes. The researchers noted however that this line of research has yet to be explored. If proven viable, future therapies may help those clinically determined to have extreme difficulty maintaining social and working relationships with others so that they too could live a better quality of life.

Next steps in research

Co-led by Prof Ebstein and Prof Chew, the Behavioural and Biological Economics and the Social Sciences (B2ESS) Group at the NUS Faculty of Arts and Social Sciences has been investigating the role of genes and hormones on human behaviours, decision making, and a variety of human attitudes including empathy, impulsivity, political attitudes, religiosity and risk attitudes.

The group is currently embarking on several behavioural economics and molecular genetics studies to investigate the impact of oxytocin on the human traits of creativity and openness to exposure, among others.

Explore further: Combination approach may boost social interactions in autism

More information: Anne Chong et al. ADP ribosyl-cyclases ( CD38 / CD157 ), social skills and friendship, Psychoneuroendocrinology (2017). DOI: 10.1016/j.psyneuen.2017.01.011

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Study finds that you may be as friendly as your genes - Medical Xpress

August 22, 2017 Dr. Alexandre R. Colas is an assistant professor at SBP. Credit: James Short

Researchers from Sanford Burnham Prebys Medical Discovery Institute (SBP), the Cardiovascular Institute at Stanford University and other institutions were surprised to discover that the four genes in the Id family play a crucial role in heart development, telling undifferentiated stem cells to form heart tubes and eventually muscle. While Id genes have long been known for their activity in neurons and blood cells, this is the first time they've been linked to heart development. These findings give scientists a new tool to create large numbers of cardiac cells to regenerate damaged heart tissue. The study was published in the journal Genes & Development.

"It has always been unclear what intra-cellular mechanism initiates cardiac cell fate from undifferentiated cells," says Alexandre Colas, Ph.D., assistant professor in the Development, Aging and Regeneration Program at SBP and corresponding author on the paper. "These genes are the earliest determinants of cardiac cell fate. This enables us to generate unlimited amounts of bona fide cardiac progenitors for regenerative purposes, disease modeling and drug discovery."

The international team, which included researchers from the International Centre for Genetic Engineering and Biotechnology in Italy, University Pierre and Marie Curie in France and the University of Coimbra in Portugal, combined CRISPR-Cas9 gene editing, high-throughput microRNA screening and other techniques to identify the role Id genes play in heart development.

In particular, CRISPR played a crucial role, allowing them to knock out all four Id genes. Previous studies had knocked out some of these genes, which led to damaged hearts. However, removing all four genes created mouse embryos with no hearts at all. This discovery comes after a decades-long effort to identify the genes responsible for heart development.

"This is a completely unanticipated pathway in making the heart," says co-author Mark Mercola, Ph.D., professor of Medicine at Stanford and adjunct professor at SBP. "People have been working for a hundred years to figure out how the heart is specified during development. Nobody in all that time had ever implicated the Id protein."

Further study showed Id genes enable heart formation by turning down the Tcf3 and Foxa2 proteins, which inhibit the process, and turning up Evx1, Grrp1 and Mesp1, which support the process.

In addition to contributing a new chapter in the understanding of heart development, this study illuminates a powerful technique to screen for protein function in complex phenotypical assays, which was previously co-developed by Colas and Mercola. This technology could have wide-spread impact throughout biology.

"On a technical level, this project succeeded because it combined high-throughput approaches with stem cells to functionally scan the entire proteome for individual proteins involved in making heart tissue," says Mercola. "It shows that we can effectively walk through the genome to find genes that control complex biology, like making heart cells or causing disease."

Understanding this pathway could ultimately jumpstart efforts to use stem cells to generate heart muscle and replace damaged tissue. In addition, because Id proteins are the earliest known mechanism to control cardiac cell fate, this work is an important milestone in understanding cardiovascular developmental biology.

"We've been influenced by the skeletal muscle development field, which found the regulator of myogenic lineage, or myoD," says Colas. "For decades, we have been trying to find the cardiac equivalent. The fact that Id genes are sufficient to direct stem cells to differentiate towards the cardiac lineage, and that you don't have a heart when you ablate them from the genome, suggests the Id family collectively is a candidate for cardioD."

Explore further: Discovery of a key regulatory gene in cardiac valve formation

More information: Thomas J. Cunningham et al, Id genes are essential for early heart formation, Genes & Development (2017). DOI: 10.1101/gad.300400.117

Scientists at the Gladstone Institutes identified two chemicals that improve their ability to transform scar tissue in a heart into healthy, beating heart muscle. The new discovery advances efforts to find new and effective ...

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Id genes play surprise role in cardiac development - Medical Xpress

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MHRA backs gene therapy in battle with 'bubble baby' disease - The Pharma Letter (registration)