Writing in The Hindu, Tony Joseph has claimed that genetics has very sure-footedly resolved the debate about whether there was a migration of Indo-European people (Aryans) into the subcontinent around 2000-1500 BCE apparently, the unambiguous answer is yes. To anyone with a nodding acquaintance with the literature in the area, such an assertion is unfounded. Given the sheer importance of this topic to Indian history, it is necessary to challenge Josephs one-sided presentation of facts. There also seems to be much that is questionable in his very approach, and this deserves scrutiny.

Conclusions decided upon in advance?

Ironically, after saying that the dominant narrative so far that genetics had disproved Aryan immigration had not been nuanced, he abandons nuance himself.

Noting the clear slant in his article, and his quoting of Razib Khan, who was sacked as a columnist by the New York Times apparently for racist views, I got in touch with Dr Gyaneshwer Chaubey, senior scientist at the Estonian Biocentre, Tartu, and a widely-published scholar in the area. Indeed, Chaubey is a co-author with Peter Underhill (whom Joseph quotes) of the 2015 study on the R1a haplogroup that Joseph cites in his article.

To my surprise, it turned out that that Joseph had contacted Chaubey and sought his opinion for his article. Chaubey further told me he was shocked by the drift of the article that appeared eventually, and was extremely disappointed at the spin Joseph had placed on his work, and that his opinions seemed to have been selectively omitted by Joseph a fact he let Joseph know immediately after the article was published, but to no avail.

Having known Chaubeys views for some time now especially that the origin of the R1a is far from settled I was not surprised to hear this. This in itself gives the lie to Josephs claims of the unambiguous conclusions of genetics about the hypothetical Aryan immigration.

Mitochondrial DNA vs Y-chromosomal DNA

Joseph claims that we only had mitochondrial (mt-) DNA (which is inherited from the mother) analysis till recently, which failed to capture the fact that it may have been mostly Aryan males who migrated first to the subcontinent and intermarried with the native women. This, apparently, has been conclusively established by a recent avalanche of Y-chromosomal DNA (which is inherited exclusively by sons from their fathers) data, which shows a Bronze Age gene flow into the subcontinent. This remark seems to suggest an embarrassing lack of familiarity with the literature.

Also, does Joseph seriously imagine geneticists would not have envisaged the possibility of males spearheading a migration all along? The first suggestion that Y-chromosomal DNA analysis may be making a case for Indo-European immigration, and the proposal that the R1a haplogroup (M17) may be a marker for this migration, was made as early as 2001.

This was subsequently contradicted in 2006 in a seminal Y-chromosomal DNA study by a group that included Richard Villems, Toomas Kivisild and Mait Metspalu, also of the Estonian Biocentre, and among the leading authorities in this area (Kivisild has since moved to Cambridge, but Villems and Metspalu are Chaubeys current colleagues at Tartu). Villems and Kivisild were, in fact, co-authors in the 2001 paper I just mentioned, but revised their view about a migration after a fresh analysis of more extensive data.

This paper, concluded, It is not necessary, based on the current evidence, to look beyond South Asia for the origins of the paternal heritage of the majority of Indians at the time of the onset of settled agriculture. The perennial concept of people, language, and agriculture arriving to India together through the northwest corridor does not hold up to close scrutiny. Recent claims for a linkage of haplogroups J2, L, R1a, and R2 with a contemporaneous origin for the majority of the Indian castes paternal lineages from outside the subcontinent are rejected...

The dominant narrative that Joseph talks about actually stems from this study, and Im not sure he is qualified to dismiss it as a bit of a stretch. This study, which has never really been contradicted, is, in fact, published in a much more respected journal than BMC Evolutionary Biology from where Joseph cites Martin Richards paper. This is significant, as good studies in this area have generally found a place in highly-ranked journals, even if they have arrived at diverging conclusions.

Indeed, this itself would suggest there are very eminent geneticists who do not regard it as settled that the R1a may have entered the subcontinent from outside. Chaubey himself is one such, and is not very pleased that Joseph has not accurately presented the divergent views of scholars on the question, choosing, instead to present it as done and dusted.

The R1a haplogroup

There are some inherent issues in regarding the R1a as a marker for any hypothetical Indo-European migration.

Firstly, Iranian populations, who are also speakers of the Indo-Iranian family of languages like most North Indians, have very little R1a. Also, tribal groups like the Chenchus of Andhra Pradesh and the Saharias of Madhya Pradesh show anomalously high proportions of R1a. The Chenchus speak a Dravidian language, and the Saharias an Austro-Asiatic one (though they have recently adopted Indo-European languages).

They are hunter-gatherer peoples who remained stunningly isolated without admixing much with other population groups, and consequently, their lifestyles have remained startlingly unchanged for millennia, as they would have been before the start of settled agriculture.

The best that studies which argued that the R1a could be used as a marker for the hypothetical Indo-European migration could do was to simply ignore these groups as aberrations. But is that very convincing? Note that it is possible no, almost certainly the case there were many tribal communities with high proportions of R1a that, unlike the Chenchus and Saharias, were assimilated into the caste matrix over the millennia. So how correct is it to link the R1a with an Indo-European migration?

Significantly, Richards et al acknowledge Chaubeys critical advice with their manuscript. That seems like a euphemism for saying that Chaubey (and, by extension, the Tartu school) had reservations about their conclusions, which is probably why he is not a co-author. So what should one make of Josephs claim that geneticists have converged on an answer?

If Underhill expressly stated to Joseph that he has now reversed his published position that there has been no significant genetic influx to Asia from Europe, indeed specifically that he is now convinced the R1a entered the subcontinent from outside, Joseph bafflingly does not reproduce this statement in his article.

The statement Joseph actually quotes merely points out that we have better data now, but that is not the same thing. Joseph also cites his 2015 paper, in which Chaubey is a co-author, but this paper actually underscores the limits of current technology, and says their data is too preliminary to jump to conclusions about migrations and culture shifts.

The genetic data at present resolution shows that the R1a branch present in India is a cousin clade of branches present in Europe, Central Asia, Middle East and the Caucasus; it had a common ancestry with these regions which is more than 6000 years old, but to argue that the Indian R1a branch has resulted from a migration from Central Asia, it should be derived from the Central Asian branch, which is not the case, as Chaubey pointed out.

In other words, contrary to what Joseph claims, as the Y-chromosomal DNA data stands today, there is no support for a recent migration into the subcontinent.

Ancestral North Indians (ANI) and Ancestral South Indians (ASI)

Joseph continues to tilt at windmills when talking about the ANI / ASI construct of David Reich et al., who used analysis autosomal DNA, which is different from mt- and Y-chromosomal DNA.

Joseph writes, ...this theoretical structure was stretched beyond reason and was used to argue that these two groups came to India tens of thousands of years ago, long before the migration of Indo-European language speakers that is supposed to have happened only about 4,000 to 3,500 years ago.

One doesnt know what to make of this. It was geneticists including Lalji Singh and K Thangaraj who were Reichs co-authors in the paper which proposed the ANI/ASI construct who argued that the ANI and ASI are considerably more than 12,500 years old, and not the result of any recent migration.

He then goes on to quote David Reich arguing in favour of a migration from the Steppe around 2500 BCE. Once again, Joseph presents this view as the last word on the subject, although not all geneticists agree.

For instance, Partha Majumdar and co-workers have very recently come up with quite different conclusions in the journal, Human Genetics: In contrast to the more ancient ancestry in the South than in the North that has been claimed, we detected very similar coalescence times within Northern and Southern non-tribal Indian populations. A closest neighbour analysis in the phylogeny showed that Indian populations have an affinity towards Southern European populations and that the time of divergence from these populations substantially predated the Indo-European migration into India, probably reflecting ancient shared ancestry rather than the Indo-European migration, which had little effect on Indian male lineages (emphasis mine).

The Evidence From Archaeology

Since Joseph believed he was shocking those who believed genetic analysis had disproved Aryan immigration theories, I shall return the favour.

Hypotheses of migrations of Bronze Age populations into the subcontinent fall afoul of archaeological evidence. Paradoxically, as I have described earlier, bronze itself goes missing from the archaeological record for several centuries that are supposed to correspond to the settling of the Bronze Age Indo-Europeans into the subcontinent. As one of the foremost authorities in the archaeology of the Indus Valley Civilisation, Professor Jonathan Mark Kenoyer of the University of Wisconsin points out, this actually reflects a prolonged lack of contact of the subcontinent with the regions the Aryans are supposed to have entered from.

Also, geological evidence shows that the Ghaggar-Hakra river, along whose channels numerous Harappan sites have been discovered, was the River Saraswati described in the Vedas and other ancient literature; indeed, the team of geologists led by Peter D Clift which carried out the geological studies asserted that the descriptions of the Saraswati in those texts was remarkably accurate, as I wrote in an earlier article.

Such findings negate the Aryan immigration model, establish the overlap (if not identity) of the Indus Valley and Vedic cultures, and push back the dates for the composition of the Vedic and other literature considerably.

Agriculture In Subcontinent Indigenous, Autochthonous

There is clear evidence of continuous inhabitation of the Gangetic plain from the Pleistocene. It is also abundantly clear that agriculture was developed indigenously, autochthonously, based on exploiting local resources, at multiple centres on the subcontinent the Saraswati-Indus region, the Gangetic plain, Eastern, Central and Peninsular India in a natural progression from a hunting-gathering lifestyle to a sedentary one, with no external stimulus, but with strong interaction between various regions of the subcontinent themselves right from the earliest Neolithic.

The myth that the founding of agriculture, whether in the Indus Valley or elsewhere in the subcontinent, is owed to migrations from West Asia (the so-called Fertile Crescent) is not supported by archaeological evidence.

Based on current evidence, whether genetic or archaeological, Josephs conclusion that, ...we are a multi-source civilization, not a single-source one, drawing its cultural impulses, its tradition and practices from a variety of lineages and migration histories, is quite simply totally wrong.

One cannot impressed by Josephs quoting of a blogger with a very questionable history like Razib Khan, while selectively omitting the comments of a known scholar in the area like Dr Gyaneshwer Chaubey after having sought them himself.

Can one be sure he has not interviewed other scholars, but left out their views from his article as they didnt suit his pre-determined agenda or just didnt interview scholars he felt held such views?

Joseph and others like him are welcome to write on any topic they please, and are even free to take sides in line with their prejudices. Indeed, all he has done is to paint a very recent paper in a not particularly highly-ranked journal as the final word in the debate, while coolly ignoring well-regarded studies which arrive at differing conclusions in significantly higher-ranked journals.

All one asks is, when writing on a much-debated topic like this one, they should at least show the intellectual sincerity to mention divergent points of view, and not try to create a false impression for the lay reader that they have been conclusively addressed. That is neither very honest nor commendable.

Here is the original post:

Genetics Might Be Settling The Aryan Migration Debate, But Not How Left-Liberals Believe - Swarajya

Nazneen Rahman at the day job: head of genetics, Institute of Cancer Research and the Royal Marsden Hospital. Photograph: Wellcome

Ive had an exciting and unusual few weeks. My group published a scientific paper revealing a new genetic cause of a childhood kidney cancer called Wilms tumour. This discovery has been of immediate benefit to families, providing an explanation for why their child got cancer, and information about cancer risks for other family members. During the same period, I also released my second album of original songs, called Answers No Questions. On one day, I found myself singing live on Radio London in the morning and talking genetics to the World Service in the evening.

Over the past few weeks, I have found it increasingly difficult to know quite how to answer the ubiquitous question what do you do?

For most of my adult life, I have replied: Im a scientist and a doctor. It is an accurate description. I am professor of human genetics at the Institute of Cancer Research, London, and head of cancer genetics at the Royal Marsden Hospital. For 20 years, my work has focused on identifying gene mutations that predispose us to getting cancer and then using that information to help patients and their families.

But I am also a singer-songwriter. This is a smaller activity than my science, but far more than hobby. I release music that people pay good money to experience.

As my music has become better known, more and more people have asked me about my unusual career combination. Dubiously, admiringly, wistfully, jealously, but most often simply because they are intrigued by the motivations and the practicalities.

This has forced me to consider how, if at all, these parts of my life are related. At first, I was adamant they were distinct facets of my character. I railed against modern societys pervasive need to simplify and pigeon-hole the human spirit. Most people have multiple passions and drivers. I am fascinated by these subterranean pursuits. One of the joys of sharing my previously secret musical existence (its not been all joy but thats another column) is that many scientists now share their secret passions with me pot throwing, flugel playing, novelty cakemaking, fire eating scientists are as wondrously idiosyncratic in their appetites as the rest of society.

I also rail against the cliche that people are drawn to science and music because they both have a mathematical basis. It may be true for some, but it has no relevance to my passion for music. I was singing complex harmonies to pop songs long before I learned the theory of music. I am an intuitive, emotional, spontaneous songwriter with little idea of the key, notes or time I am composing in until I have to write it down. There is little science in my music, but I have come to believe there may be music in my science. There is a kinship in how I do science and how I make music that flouts the division of science and the arts that our education system promotes.

My branch of science is genetics. Genetics is underpinned by a simple four-letter DNA code (designated by A, C, G, T). This code dictates how our bodies work. And how they can fail. This beautiful code is framed, shaped, constrained and enhanced by a multitudinous orchestra of associates that determine when, how, where, how long and how strong different parts of the code are played in each of our 30tn cells. DNA is also extraordinary in being able to copy itself with unbelievable accuracy while retaining the ability to mutate and evolve. The sophisticated controls and balances are breathtaking in their elegance. Our recent childhood cancer gene discovery revealed some insights into these control mechanisms and how cancer can occur if they go wrong. Studying genetics provides an endless variety of patterns to unravel, problems to solve, questions to answer. Gratifyingly, it also provides endless opportunities to bring benefits to humanity. In a hundred lifetimes I would not run out of genetic questions that excite me.

Music is underpinned by a simple 12-letter note code (designated by C, C#, D, D#, E, F, F#, G, G#, A, A#, B). These notes can be layered in almost infinite ways to produce music. In a hundred lifetimes I would not run out of music to write. My challenge has never been about finding the time to write songs, it has always been about finding the time to not lose songs. Snippets of music and lyrics are my constant companions. Most disappear into the clouds like lost balloons. But every now and again, I reach up, grab a string and tie one down, just before it is lost for ever.

Science and music make me feel like Im swimming in infinity pools of possibility, but within structures that keep me from drowning. The potential and expectation to keep delivering new things can be daunting to scientists and artists. The DNA code in genetics and the note code in music are my lifelines. They let me be audacious and unfettered. They give me confidence to dive in, even when I cant see the shore on the other side.

And the practicalities of delivering science and music are quite similar for me. Science is typically funded as three- to five-year projects. For example, I am currently leading a 4m collaborative programme, called the Transforming Genetic Medicine Initiative, which is building the knowledge base, tools and processes needed to deliver genetic medicine. To get science funding, you need to present, in great detail, a persuasive, innovative concept that seems worthwhile and feasible. But once you receive the funding there is considerable creative licence to alter the project, within the overall concept, because science is fast moving. You cannot predict everything you will do at the cutting-edge of knowledge, five years in advance.

My albums have also had three-year lifespans, though I didnt plan it that way. I dont plan them at all. My songs tend to be stories about the complexities of everyday life, inspired by words, subjects or images that briefly, randomly, ensnare me. I dont know what the songs will be about before I write them. There is no overall concept for the albums, at least not consciously. And yet I see now that each album had a central theme that wasnt apparent to me when I was writing them. Cant Clip My Wings, which I released in 2014, includes songs about how we adapt to loss. Lost loves, lost lives, lost dreams. My new album, Answers No Questions, includes songs about choice the complexities, burdens, excitement, pain and joys of making choices.

As I am writing this, I wonder if I am forcing these connections, if they are a post-hoc construct that allows me to give a more pleasing answer to why I am both scientist and songwriter. But I have truly come to believe that, in me, science and music are different manifestations of the same need. A central deep desire to create new things elegant, beautiful, new things. It doesnt much matter if its a scientific discovery, a clinic protocol that makes things easier for patients or a song that tells a human story from a fresh perspective. When it works it feels amazing. Even when it doesnt work, the journey is always paved with nuggets of enlightenment that feed into future creations.

So what do I do?

I think, at my core, I am a creative, though it would be perplexing to many if I started to describe myself this way. Science and music are the mediums in which I happen to create, undoubtedly an unusual combination. But maybe only because we are relentlessly conditioned, from an early age, to believe we must choose whether we are in the science or the arts camp. People from the arts camp routinely tell me they were hopeless at science, sometimes apologetically, sometimes as a badge of honour, a mark of their creativity. Likewise, scientists worry that any proficiency in creativity might be interpreted as a deficiency in objectivity, the bedrock of science. It seems our society has lapsed into considering activity in the sciences and the arts a zero-sum game. It is not.

What would happen if we stopped constraining ourselves and our children in this way? If we embraced and fostered fluid boundaries between the sciences and the arts? If many more people were able to cross freely in and out of both worlds, successfully and unapologetically?

I believe science, art, individuals and society would reap countless benefits.

Answers No Questions is out now; nazneenrahman.com

Read this article:

Nazneen Rahman: 'Science and music are mediums in which I create' - The Guardian

The Hindu

How genetics is settling the Aryan migration debate The Hindu The dating of the profound population mixture event that Reich refers to was arrived at in a paper that was published in the American Journal of Human Genetics in 2013, and was lead authored by Priya Moorjani of the Harvard Medical School, and ...

More here:

How genetics is settling the Aryan migration debate - The Hindu

The more data, the better, right? When it comes to genetics, it turns out that might not be the case.

As both genetic sequencing has gotten cheaper and computerized data analysis has gotten better, more and more researchers have turned to what are known as genome-wide association studies in hopes of sussing out which individual genes are associated with particular disorders. The logic here is simple: If you have a whole lot of people with a disease, you should be able to tell what genetic traits those people have in common that might be responsible. This thinking has resulted in an entire catalogue of hundreds of research studies that has shed light on the genetic origins of diseases such as type 2 diabetes, Parkinsons disease, Crohns disease, and prostate cancer, while helping fuel the rise of personalized medicine.

Now, though, a new analysis calls the entire approach into question.

Writing in the journal Cell, a group of Stanford University geneticists write that such large studies are likely to produce genetic variants with little bearing on the disease in questionessentially false positives that confuse the results.

Intuitively, one might expect disease-causing variants to cluster into key pathways that drive disease etiology [the causes of disease], they write. But for complex traits, association signals tend to be spread across most of the genomeincluding near many genes without an obvious connection to disease.

Their analysis suggests an intriguing new way of viewing the genome in which nearly every gene impacts every other gene. Instead of a system in which you can plug and play different variables to affect different results, its a complex, inter-related network. They call this the omnigenic model.

Their work has broad, sweeping implications for the entire field of genetics. First off, that all those big, expensive genome-wide association studies may wind up being little more than a waste of time because they turn up genetic variants that, while perhaps interconnected to the disease, may not actually point to a viable target for things like drug therapy.

Indeed, genes that often seem related to diseases have stumped researchers in terms of the role they actually play in the condition. In the paper, for example, the Stanford researchers re-analysed a 2014 study of 250,000 people which found nearly 700 DNA variants linked to heightbut only 16 percent of these variants had anything to do with a persons height. In the paper, the Stanford researchers suggest that the impact of each variant has a teeny impact on height.

Far from solving a problem though, this new research merely opens up an entirely new line of questioningand shows us once again, that we may not know nearly as much as we thought we did.

[Cell]

Originally posted here:

This Study is Forcing Scientists to Rethink the Human Genome - Gizmodo

Slowing down the aging process might be possible one day with supplements derived from gut bacteria. Scientists at Baylor College of Medicine and the University of Texas Health Science Center at Houston have identified bacterial genes and compounds that extend the life of and also slow down the progression of tumors and the accumulation of amyloid-beta, a compound associated with Alzheimers disease, in the laboratory worm C. elegans. The study appears in the journal Cell.

The scientific community is increasingly aware that our bodys interactions with the millions of microbes in our bodies, the microbiome, can influence many of our functions, such as cognitive and metabolic activities and aging, said corresponding author Dr. Meng Wang, associate professor of molecular and human genetics at Baylor and the Huffington Center On Aging. In this work we investigated whether the genetic composition of the microbiome might also be important for longevity.

This question is difficult to explore in mammals due to technical challenges, so the researchers turned to the laboratory worm C. elegans, a transparent, simple organism that is as long as a pinhead and shares essential characteristics with human biology. During its 2 to 3 week long lifespan, the worm feeds on bacteria, develops into an adult, reproduces, and progressively ages, loses strength and health and dies. Many research laboratories around the world, including the Wang lab, work with C. elegans to learn about basic biological processes.

We think that C. elegans is a wonderful system in which to study the connection between bacterial genes and aging because we can very fine tune the genetics of microbes and test many genes in the worm in a relatively short time, Wang said.

Testing thousands of genes, one at a time.

To study the effect of individual bacterial genes on the lifespan of C. elegans, Wang joined efforts with Dr. Christophe Herman, associate professor of molecular and human genetics and molecular virology and microbiology at Baylor, and other colleagues who are experts in bacterial genetics. They employed a complete gene-deletion library of bacterium E. coli; a collection of E. coli, each lacking one of close to 4,000 genes.

We fed C. elegans each individual mutant bacteria and then looked at the worms life span, Wang said. Of the nearly 4,000 bacterial genes we tested, 29, when deleted, increased the worms lifespan. Twelve of these bacterial mutants also protected the worms from tumor growth and accumulation of amyloid-beta, a characteristic of Alzheimers disease in humans.

Further experiments showed that some of the bacterial mutants increased longevity by acting on some of the worms known processes linked to aging. Other mutants encouraged longevity by over-producing the polysaccharide colanic acid. When the scientists provided purified colanic acid to C. elegans, the worms also lived longer. Colanic acid also showed similar effects in the laboratory fruit fly and in mammalian cells cultured in the lab.

The researchers propose that, based on these results, it might be possible in the future to design preparations of bacteria or their compounds that could help slow down the aging process.

Colanic acid mediates crosstalk between bacteria and mitochondria

Interestingly, the scientists found that colanic acid regulates the fusion-fission dynamics of mitochondria, the structures that provide the energy for the cells functions.

These findings are also interesting and have implications from the biological point of view in the way we understand host-microbe communication, Wang said. Mitochondria seem to have evolved from bacteria that millions of years ago entered primitive cells. Our finding suggests that products from bacteria today can still chime in the communication between mitochondria in our cells. We think that this type of communication is very important and here we have provided the first evidence of this. Fully understanding microbe-mitochondria communication can help us understand at a deeper level the interactions between microbes and their hosts.

Other contributors to this work include Bing Han, Priya Sivaramakrishnan, Chih-Chun J. Lin, Isaiah A.A. Neve, Jingquan He, Li Wei Rachel Tay, Jessica N. Sowa, Antons Sizovs, Guangwei Du and Jin Wang.

Financial support for this project was provided by the National Institutes of Health grants R01AG045183, R01AT009050, DP1DK113644, R01HL119478, R01GM088653, R01GM115622, R01CA207701 and Howard Hughes Medical Institute Faculty Scholar Award.

Go here to read the rest:

Gut bacteria might one day help slow down aging process - Baylor College of Medicine News (press release)

June 15, 2017

Researchers at the Stanford University School of Medicine have discovered an unexpected layer of the regulation of gene expression. The finding will likely disrupt scientists' understanding of how cells regulate their genes to develop, communicate and carry out specific tasks throughout the body.

The researchers found that cellular workhorses called ribosomes, which are responsible for transforming genes encoded in RNA into proteins, display a never-before-imagined variety in their composition that significantly affects their function. In particular, the protein components of a ribosome serve to tune the tiny machine so that it specializes in the translation of genes in related cellular pathways. One type of ribosome, for example, prefers to translate genes involved in cellular differentiation, while another specializes in genes that carry out essential metabolic duties.

The discovery is shocking because researchers have believed for decades that ribosomes functioned like tiny automatons, showing no preference as they translated any and all nearby RNA molecules into proteins. Now it appears that broad variation in protein production could be sparked not by changes in the expression levels of thousands of individual genes, but instead by small tweaks to ribosomal proteins.

'Broad implications'

"This discovery was completely unexpected," said Maria Barna, PhD, assistant professor of developmental biology and of genetics. "These findings will likely change the dogma for how the genetic code is translated. Until now, each of the 1 to10 million ribosomes within a cell has been thought to be identical and interchangeable. Now we're uncovering a new layer of control to gene expression that will have broad implications for basic science and human disease."

Barna is the senior author of the study, which will be published online June 15 in Molecular Cell. Postdoctoral scholars Zhen Shi, PhD, and Kotaro Fujii, PhD, share lead authorship. Barna is a New York Stem Cell Robertson Investigator and is also a member of Stanford's Bio-X and Child Health Research Institute.

The work builds upon a previous study from Barna's laboratory that was published June 1 in Cell. The lead author of that study was postdoctoral scholar Deniz Simsek, PhD. It showed that ribosomes also differ in the types of proteins they accumulate on their outer shells. It also identified more than 400 ribosome-associated proteins, called RAPs, and showed that they can affect ribosomal function.

Every biology student learns the basics of how the genetic code is used to govern cellular life. In broad strokes, the DNA in the nucleus carries the building instructions for about 20,000 genes. Genes are chosen for expression by proteins that land on the DNA and "transcribe" the DNA sequence into short pieces of mobile, or messenger, RNA that can leave the nucleus. Once in the cell's cytoplasm, the RNA binds to ribosomes to be translated into strings of amino acids known as proteins.

Every living cell has up to 10 million ribosomes floating in its cellular soup. These tiny engines are themselves complex structures that contain up to 80 individual core proteins and four RNA molecules. Each ribosome has two main subunits: one that binds to and "reads" the RNA molecule to be translated, and another that assembles the protein based on the RNA blueprint. As shown for the first time in the Cell study, ribosomes also collect associated proteins called RAPs that decorate their outer shell like Christmas tree ornaments.

'Hints of a more complex scenario'

"Until recently, ribosomes have been thought to take an important but backstage role in the cell, just taking in and blindly translating the genetic code," said Barna. "But in the past couple of years there have been some intriguing hints of a more complex scenario. Some human genetic diseases caused by mutations in ribosomal proteins affect only specific organs or tissues, for example. This has been very perplexing. We wanted to revisit the textbook notion that all ribosomes are the same."

In 2011, members of Barna's lab showed that one core ribosomal protein called RPL38/eL38 is necessary for the appropriate patterning of the mammalian body plan during development; mice with a mutation in this protein developed skeletal defects such as extra ribs, facial clefts and abnormally short, malformed tails.

Shi and Fujii used a quantitative proteomics technology called selected reaction monitoring to precisely calculate the quantities, or stoichiometry, of each of several ribosomal proteins isolated from ribosomes within mouse embryonic stem cells. Their calculations showed that not all the ribosomal proteins were always present in the same amount. In other words, the ribosomes differed from one another in their compositions.

"We realized for the first time that, in terms of the exact stoichiometry of these proteins, there are significant differences among individual ribosomes," said Barna. "But what does this mean when it comes to thinking about fundamental aspects of a cell, how it functions?"

To find out, the researchers tagged the different ribosomal proteins and used them to isolate RNA molecules in the act of being translated by the ribosome. The results were unlike what they could have ever imagined.

"We found that, if you compare two populations of ribosomes, they exhibit a preference for translating certain types of genes," said Shi. "One prefers to translate genes associated with cell metabolism; another is more likely to be translating genes that make proteins necessary for embryonic development. We found entire biological pathways represented by the translational preferences of specific ribosomes. It's like the ribosomes have some kind of ingrained knowledge as to what genes they prefer to translate into proteins."

The findings dovetail with those of the Cell paper. That paper "showed that there is more to ribosomes than the 80 core proteins," said Simsek. "We identified hundreds of RAPs as components of the cell cycle, energy metabolism, and cell signaling. We believe these RAPs may allow the ribosomes to participate more dynamically in these intricate cellular functions."

"Barna and her team have taken a big step toward understanding how ribosomes control protein synthesis by looking at unperturbed stem cells form mammals," said Jamie Cate, PhD, professor of molecular and cell biology and of chemistry at the University of California-Berkeley. "They found 'built-in' regulators of translation for a subset of important mRNAs and are sure to find more in other cells. It is an important advance in the field." Cate was not involved in the research.

Freeing cells from micromanaging gene expression

The fact that ribosomes can differ among their core protein components as well as among their associated proteins, the RAPs, and that these differences can significantly affect ribosomal function, highlights a way that a cell could transform its protein landscape by simply modifying ribosomes so that they prefer to translate one type of genesay, those involved in metabolismover others. This possibility would free the cell from having to micromanage the expression levels of hundreds or thousands of genes involved in individual pathways. In this scenario, many more messenger RNAs could be available than get translated into proteins, simply based on what the majority of ribosomes prefer, and this preference could be tuned by a change in expression of just a few ribosomal proteins.

Barna and her colleagues are now planning to test whether the prevalence of certain types of ribosomes shift during major cellular changes, such as when a cell enters the cell cycle after resting, or when a stem cell begins to differentiate into a more specialized type of cell. They'd also like to learn more about how the ribosomes are able to discriminate between classes of genes.

Although the findings of the two papers introduce a new concept of genetic regulation within the cell, they make a kind of sense, the researchers said.

"About 60 percent of a cell's energy is spent making and maintaining ribosomes," said Barna. "The idea that they play no role in the regulation of genetic expression is, in retrospect, a bit silly."

Explore further: In creation of cellular protein factories, less is sometimes more

Ribosomes are the cellular machines that make proteins, the molecules that carry out the majority of life's functions. To make ribosomes, cells need to make an abundance of amino acids (the raw material of proteins) and adenosine ...

The ability to dispose of proteins that are either aberrant or (in the worst case) toxic is fundamental to a cell's survival. Researchers from Charit - Universittsmedizin Berlin have been able to demonstrate the manner ...

Researchers at the Center of Genomic Integrity, within the Institute for Basic Science (IBS), have found out an unexpected role for a protein involved in the DNA repair mechanism. The protein SHPRH not only helps to fix mistakes ...

A research team at the University of Basel's Biozentrum has investigated the expression of ribosomal proteins in a wide range of human tissues including tumors and discovered a cancer type specific signature. As the researchers ...

Nikolai Slavov, a new assistant professor in the Department of Bioengineering, wasn't looking to upend conventional wisdom when he set out to measure protein levels in ribosomes, the particles in cells that synthesize all ...

Biologists at UC San Diego have found the "missing link" in the chemical system that enables animal cells to produce ribosomesthe thousands of protein "factories" contained within each cell that manufacture all of the ...

Scientists have developed a new technique for investigating the effects of gene deletion at later stages in the life cycle of a parasite that causes malaria in rodents, according to a new study in PLOS Pathogens. The novel ...

Scientists from Rutgers University-New Brunswick, the biotechnology company NAICONS Srl., and elsewhere have discovered a new antibiotic effective against drug-resistant bacteria: pseudouridimycin. The new antibiotic is produced ...

The drill holes left in fossil shells by hunters such as snails and slugs show marine predators have grown steadily bigger and more powerful over time but stuck to picking off small prey, rather than using their added heft ...

Almost all life on Earth is based on DNA being copied, or replicated. Now for the first time scientists have been able to watch the replication of a single DNA molecule, with some surprising findings. For one thing, there's ...

Researchers have identified properties in DNA's protective structure that could transform the way scientists think about the human genome.

James Cook University scientists have found evidence that even distantly related Australian fish species have evolved to look and act like each other, which confirms a central tenet of evolutionary theory.

Adjust slider to filter visible comments by rank

Display comments: newest first

Again we're shocked to discover that the higher energy environment our solar system experiences, the greater the tightening and finite organizing we see at the cellular level. What will we find only to lose it as our system passes out of higher energy is astonishing. Looking thru this lens of higher energy in past cycles reforms myths into potential truths.

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

See the article here:

Newly identified method of gene regulation challenges accepted science, researchers say - Phys.Org

by Jill Max June 13, 2017

Antonio J. Giraldez, Ph.D., has been appointed chair of the Department of Genetics, effective June 1, 2017. Giraldez is professor of genetics and is affiliated with the Yale Cancer Center and the Yale Stem Cell Center. He was director of graduate studies for the Department of Genetics from 2012 to 2016.

Antonio is an outstanding investigator who has made major advances in our understanding of embryonic development. He is committed to continuing the outstanding academic tradition of the department, said Robert J. Alpern, M.D., dean and Ensign Professor of Medicine.

My goal is to continue our trajectory of basic science discovery and bring the research thats being done in our human genetics core closer to patients, so that we become a destination point for analyzing the genomes of thousands of patients.

Giraldezs research in developmental biology, genetics, genomics, and computational biology delves into deciphering the mechanisms by which a single-cell zygote transforms into a multicellular organism. Using zebrafish as a model system, his major contribution has been to contribute to our understanding of the maternal-to-zygote transitionwhat he terms embryonic pubertythe shift that occurs after the embryo interprets and destroys maternal instructions and activates the code contained in its own genome. He also found that the same stem cell factors that reprogram cells play a key role in activation of the genome after fertilization, a universal step in embryonic development that allows an early embryo to develop into different cell types.

Under his leadership, the Department of Genetics will continue to recruit outstanding faculty as it moves into a more quantitative approach to genetics and developmental biology and seeks to bring new understanding to the function of individual genes, as well as the organization of nuclear architecture into gene function. At the same time, Giraldez is excited about the central role genetics will play in our program in personalized medicine. He is eager to build upon Yales strengths in genomic analysis for clinical diagnosis and to leverage the knowledge gained from clinical data to propel basic science discoveries using model systems.

Last year, Giraldez was named as a Howard Hughes Medical Institute (HHMI) Faculty Scholar, an award that recognizes basic researchers who apply innovative approaches to biological problems that are relevant to human health. In 2014, he won the Vilcek Prize for Creative Promise in Biomedical Sciences. He was named as a Pew Scholar in Biomedical Sciences in 2008 and won the John Kendrew Young Investigator Award from the European Molecular Biology Laboratory in 2007. He has twice been a finalist for the Blavatnik National Award for Young Scientists.

Giraldez obtained his doctoral degree in developmental genetics from the European Molecular Biology Laboratory in Heidelberg, Germany and did postdoctoral training in developmental biology at the Skirball Institute of Biomolecular Medicine at New York University Langone Medical Center and Harvard University.

This article was submitted by John Dent Curtis on June 13, 2017.

More:

Antonio Giraldez Named Chair of Genetics - Yale News

Paul Levine, a resident of West Tisbury, former professor at Harvard, and visiting professor at Stanford University, writes occasionally about scientific research taking place today, along with profiles of the Islands scientists and their work and facts of scientific note on the Island. This week, he follows up on his gene-editing column from six weeks ago, which described the genetics research that has led to CRISPR, which stands for clustered regularly interspaced short palindromic repeats. If youre wondering what that is, read on.

In this, the second column on the subject of gene editing, imagine a world in which many human genetic disorders have been eliminated, no children are born with cystic fibrosis, Tay-Sachs disease, sickle cell anemia, or other genetic disorders. Welcome to the world of CRISPR, an acronym for clustered regularly interspaced short palindromic repeats of the DNA of a gene. CRISPR can locate a defective gene and, along with an enzyme called Cas9, can, like a pair of scissors, snip out the unwanted gene and suture a desirable gene in its place. It is a technique of genetic editing that is more precise, efficient, and affordable than anything that has come before. What I describe below is specific to the Vineyard (the elimination of Lyme disease) and relevant to society as a whole for the potential for great good, but also for possible misuse use of the technology, which has raised questions of ethics and safety.

CRISPR-Cas9 as a tool for genetic editing has a history that goes back to a 2011 scientific conference at which microbiologist Emmanuelle Charpentier, now the director of the Max Planck Institute for Infection Biology in Berlin, met Jennifer Doudna, professor of chemistry and molecular and cell biology at the University of California, Berkeley. They talked about CRISPR-Cas9, and what follows is the story of one of the most significant achievements in genetics since the discovery of the structure and function of DNA. It is a story that involves brilliant scientists, competition, big egos, patent disputes, and the possibility of a Nobel Prize, not to mention the immense financial gain by biotech, agribusiness, and pharmaceutical companies.

Prior to todays application of CRISPR to edit genes, it was known that it was a means by which bacteria protected themselves from infection by viruses by recognizing and binding to viral DNA and destroying it with enzymes. Charpentier and Doudna wondered whether the technique could be applied to other things than the detection and destruction of viral DNA. If it could, it might lead to a way to snip out bad genes and possibly replace them with good ones. They began a collaborative research project with bacteria, and developed a technique for cutting out and replacing bacterial genes with CRISPR and an enzyme, Cas9. In other words, it was now possible to edit the bacterial genome by cutting and pasting genes. Doudna and Charpentier published their research in the journal Science in 2012. Aware of the great potential that the ability to edit genomes presented, the University of California patented their discovery.

At about the same time, Feng Zhang at the Broad Institute of MIT and Harvard was working with Cas9, and discovered that CRISPR-Cas9 could also be applied to edit the genes of animals and plants. His discovery was published a few months after the publication of the work of Doudna and Charpentier.

The Broad Institute applied for and received a patent based on the results of Zhangs research. However, prior to their filing, the University of California, Berkeley, had filed for and received a patent based on Doudnas and Charpentiers research.

In a patent dispute, it was ruled that the Broad Institutes patent took precedent over the University of California patent because it applies to animal and plant cells. The University of California, Berkeley, has asserted that although their patent involves bacteria, it includes all forms of life.

Unfortunately, a consequence of the dispute is the enmity that has developed between some of the parties involved.

It was not long before life scientists throughout the world began to develop the technique in order to advance progress in human genetic engineering to cure some of the 6,000 human genetic disorders.

With respect to applications of CRISPR-Cas9 to edit human genes, research is underway to use it to control insect- and spider-borne disease; for example, mosquitoes that carry the malaria parasite and the viruses that cause dengue, West Nile, and Zika fever. The object of the research is to produce sterile female mosquitoes by using CRISPR-Cas9 to edit out the genes required for their fertility, and distribute the sterile females in areas around the world where mosquito-borne diseases occur. This approach has been met with some success at the laboratory level.

Another research effort which might be familiar to you is to eliminate Lyme disease by distributing white-footed mice that have been manipulated with gene-editing techniques to effectively be immune to the bacteria which causes Lyme, all using CRISPR-Cas9. This would break the transmission cycle of the bacteria (see MV Times, Scientist proposes genetic attack on M.V. ticks, July 20, 2016).

I havent mentioned possible commercial applications of CRISPR-Cas9, and the great profits to be made by Monsanto and other agribusiness companies by the production of genetically modified plants and domestic animals. The technology is also appealing to Big Pharma. Its worth looking at the highly controversial and ethical questions that accompany the use of CRISPR-Cas9. In contrast with noninheritable somatic cell human gene editing described above, there is another technique called germ line gene editing, which makes gene changes at the level of human eggs, sperm, and embryos that would be heritable. Experiments on human embryos have been carried out by scientists in China and the U.K. that have raised concern that CRISPR-Cas9 could lead to the production of designer babies parents choosing the traits they want their children to have. Designer babies are a vast topic, too vast to bring up here, but there is an excellent discussion of the subject in Roger Gosdens The Brave New World of Reproductive Technology.

Jennifer Doudna, at U.C. Berkeley, and Feng Zhang at MIT, the principal developers and promoters of gene editing, appear to be at odds over the ethical questions surrounding the technology. Doudna is concerned with the ethics and the publics perception of CRISPR-Cas9, but Zhang appears less so, and prefers to drive the research to cure genetic disorders, putting aside the possibility of the production of designer babies.

If you want to explore CRISPR-Cas9 and come to an opinion regarding one of the most significant developments in genetics in this century, I urge you to read Robert Kolkers 2016 article in Bloomberg BusinessWeek, How Jennifer Doudnas Gene Editing Technique Will Change the World. It can be found at bit.ly/CRISPRdoudna. Listen to Doudnas TED Talk here: bit.ly/TEDdoudna.

Finally, I should mention that a two-act play named Gene Play, about the story of recDNA and CRISPR-Cas9, will be read by a cast of actors at the Vineyard Playhouse on June 19.

Read the original:

Science and Scientists on the Vineyard: Genes at play with CRISPR - Martha's Vineyard Times

Ancient DNA revolutionized archaeology. Now, researchers think they can use it to create a GPS system for the remains of the long-dead.

Lets face it: Even with the modern conveniences of U-Hauls and cardboard boxes, moving is a pain. For Neolithic humans living in Europe 5,000 years ago, the obstaclesroaming predators, lack of transportation, unforgivingmust have seemed insurmountable. Deep in the past, a few humans could have moved hundreds of kilometers, certainly, but most people at that time would not have, says Chris Tyler-Smith, a human genetics researcher at England's Sanger Institute.

New research based on a novel mapping technique, however, suggests otherwise. By combining genetic data with archaeology, researchers analyzed the DNA of over 300 ancient Eurasians and Near-Eastern Europeans to find that these people may have roamed surprisingly far. They found that 50 percent of ancient skeletons were in graves more than 100 miles from their place of origin, 30 percent were up to 620 miles away, and the remaining people had roamed as far as 1,900 miles from their homes.

This is the first time anyone has ever been able to do anything like this, says Eran Elhaik, one of the pioneers of the new technique and a geneticist at the University of Sheffield. We were able to see the emergence of farming, and populations moving because they exhausted the land, and then irrigation systems. As the populations moved, they replaced all the hunter-gatherers. Elhaik and his team presented their preliminary findings last month at the European Society of Human Genetics Conference.

Archaeologists and geneticists alike have speculated about how and where humans migrated across Europe. Based on skeletal remains, they believe Europe was populated by modern humans around 45,000 years ago as hominins moved out of Africa and into other parts of the world. Europe was then largely depopulated when the most recent ice age took hold around 25,000 years ago, except for some stalwart holdouts who found survivable conditions in southern Europe.

Archaeologists have long hypothesized that Europe was colonized by successive waves of hunter-gatherers, based on clear differences in stone tools and bone and shell ornaments recovered from sites across Europe and the Middle East, writes Ewen Callaway for Nature.

But its only recently that archaeologists have been able to compare their material data to the story that genetics tells. With recent advances in analyzing ancient DNA, were beginning to get a much clearerand more complexpicture about these humans and their lives.

DNA is notoriously delicate. It can only survive intact under certain environmental conditions, and prefers cold places. In human samples, the best place to find it from is the petrous bone on the skull, near the ear. But even once youve gotten your hands on some usable DNA, mining it for useful information comes with a series of hurdles.

Extracting ancient DNA and sequencing it with next-generation techniques results in a hodgepodge of information. The DNA isnt just from the ancient humanits also from the surrounding environment, and maybe from contamination introduced by modern researchers. To sort through this tangle, researchers rely on computer assistance to identify a single mitochondrial DNA sequence (the presence of more than one indicates contamination) and pick out deterioration patterns that signal human DNA.

But once those snippets of human DNA have been plucked from the mess, they can open up a world of discoveries. We can learn about everything from what ancient humans like tzi the ice mummyate and wore, to how often Neanderthals and humans were procreating. I think its one of the most exciting developments in science in the last few decades, says Tyler-Smith. People have compared it to the development of radiocarbon dating in the middle of the 20th century in terms of its impact.

Elhaik has expanded on the information that can be extracted from ancient DNA using a technique he pioneered with living humans, called Geographic Population Structure, or GPS. This technique relies on datasets that compare single nucleotide polymorphismsdifferences in DNA nucleotides that act as biological markers among individuals. The GPS method uses the SNPs (pronounced snips) of populations that have been in one place for multiple generations, then contrasts it to groups that live farther away.

We didnt just hack a cool acronym, it really works like GPS navigation, Elhaik says. Instead of satellites were using populations that are very well localized to their regions.

In a 2014 study in Nature Communications, Elhaik and his colleagues applied the GPS method to more than 600 people around the world, and were able to correctly assign 83 percent of those individuals to their country of origin. When the same technique was applied to 200 Sardinian villagers, a quarter of them were placed in their villages and the majority of people were placed within 50 km of their homes.

The same technique is at play in their new research. We used ancient DNA extracted from skeleton remains from 12000 BC to 500 AD," saysElhaik."The DNA goes in and coordinates come outthough he adds that the sample size is far smaller for ancient individuals, so there are far more gaps across the continent. Think of it as GPS for the long-dead.

If you have perhaps 20 or 30 people who come from the same population, then theres extra information you can get, says Tyler-Smith, who is not involved in the GPS research. But, he adds, bigger numbers are always better.

But geneticists and archaeologists dont always agree on the finer points of prehistory. For Marc Vander Linden, a professor of archaeology at University College London, using such small sample sizes to draw large conclusions is problematic.

Geneticists have suggested wide-scale processes on the basis of limited, spatially clustered samples, and thenwronglygeneralized these results for the entire corresponding archaeological cultures, Linden said by email. Both archaeologists and geneticists need to fully realize and consider that genes and material culture do not operate in the same spheres of action, nor do they unfold upon the same spatial and temporal scales.

Linden does agree that geneticists work in ancient DNA has revolutionized the field and opened up new avenues of inquiry. Ancient DNA research, alongside other types of data, points to the fact that the population history of prehistoric Europe was in constant flux and marked by numerous episodes of both expansion and retraction.

If Elhaiks technique pans out, it could answer tantalizing questions about human migrationfor instance, how agriculture came to the region. Archaeologists have debated for decades whether it was transmitted by human migration, or by the movement of the idea itself. Part of the debate has recently been settled by genetics, with researchers seeing the movement of agricultural communities from the Near-East into the hunter-gatherer groups in Europe. Elhaik thinks his groups research will further elucidate that question and show more precise movements of multiple groups of people.

For Tyler-Smith, that type of increased resolution into the broad outlines of the past is the future of the field. Hed also like to see more samples from other parts of the worldthe hotter, dryer regions like Africa and southern Europe where its been harder to find ancient DNA still intact due to the environmental conditions. For now, though, unraveling European migration is itself helping us make sense of human ancestryand the fact that were all mutts.

Theres no such thing as a European population thats been around for 40,000 years, Tyler-Smith says. Mixing has been going on throughout prehistory and I think we will see that in every part of the world as we come to study it in this level of detail.

Read this article:

Ancient DNA Could Unravel the Mystery of Prehistoric European Migration - Smithsonian

A-A+

The birds of the Galpagos Islands are playing a role in understanding evolution.

When Charles Darwin visited the islands, it was the variety of finch beaks that helped him understand how one species could evolve into many.

The Galpagos cormorants, the only species of cormorant to have lost the ability to fly, have enabled scientists to pin down the genes that led to this species split from other cormorants 2 million years ago.

They are genes that are present in birds, mammals and most animals, including the worm often studied in laboratories: C. elegans. In fact, they are even present in some algae. Their ultimate effect varies, however. In humans and in the cormorants, the genes affect bone growth. But mutations in humans can cause dreadful diseases; in the birds, they caused smaller wings, which were not effective for flight, and a weaker breastbone.

Alejandro Burga, who analyzed the DNA of these and other cormorants with his colleagues, is a researcher in the lab of Leonid Kruglyak, the chairman of human genetics at UCLAs medical school. He said he and Kruglyak were discussing how they might use the increasing power of modern genetics to investigate how new species develop.

On a trip to the Galpagos, Kruglyak viewed cormorants as an ideal subject, partly because of their relatively recent evolution as a species and their obvious difference from all their kin.

Patricia Parker, a behavioral ecologist at the University of Missouri, St. Louis, who studies bird diseases in the Galpagos, provided tissue samples for DNA of the flightless cormorants. She had in her freezer over 200 samples of this bird, Burga said.

He and other researchers found that a gene called Cux1 and some others were involved in the growth of cilia. These whiplike structures on the surface of cells can function in movement in single-celled animals. But in birds and humans, they work like antennas, and one of their jobs is to pick up biochemical signals for bone growth.

The end result of mutations in Cux1 in humans can be terrible diseases, called ciliopathies. In the cormorants, however, the result seems to have been to prematurely stop bone growth in the wings, resulting in the loss of flight, but leaving the birds to thrive in the water and on land.

Without a knowledge of DNA and the tools of modern genomics, Darwin could not have come up with the conclusions of the current study, published in Science.

But he certainly would have had something to say.

17425961

More:

How a Galpagos bird lost the ability to fly - Bend Bulletin

TAMPA, Fla. Testicular cancer is relatively rare with only 8,850 cases expected this year in the United States. A majority of testicular cancer, 95 percent of all cases, begins in testicular germ cells, which are the cells responsible for producing sperm. Testicular germ cell tumors (TGCT) are the most common cancer in men aged 20 to 39 years in the U.S. and Europe. Peter Kanetsky, PhD, MPH, chair of the Cancer Epidemiology Department at Moffitt Cancer Center, and colleagues from the International TEsticular CAncer Consortium (TECAC), launched a large analysis of five major testicular cancer studies to investigate genetic risk factors linked to TGCT. Their results, which uncovered eight new genetic markers associated with TGCT, were published in the June 12 issue of Nature Genetics.

The incidence of TGCT has been increasing around the world throughout the past 50 years. Between 1973 and 2003, the number of men diagnosed with TGCT rose by 54 percent. TGCT is also more prevalent in certain populations. Men who are of Northern European ancestry have the highest incidence of TGCT, while men of African decent have the lowest incidence.

Scientists are unsure why the incidence of TGCT has been increasing or why it is more prevalent in certain populations. Their goal is to identify risk factors for TGCT to increase their understanding of how it arises and to identify those patients who may develop TGCT to prevent progression and treat the disease earlier.

It is believed that some TGCT risk factors may be inherited. Men who have a father with TGCT are four times more likely to develop it, and the risk increases eight-fold if they have a brother with TGCT. Approximately 30 genetic risk factors have been identified so far, but these do not completely account for all of the potential heritable risks.

TECAC combined data from five previous genome-wide association studies, providing researchers with more than 3,500 TGCT cases internationally to review. Their analysis identified eight new genetic markers that are associated with an increased risk of developing TGCT and refined four previously reported susceptibility regions.

Our findings substantially increase the number of known susceptibility genes associated with TGCT. This moves the field closer to a comprehensive understanding of the underlying genetic architecture and development of the disease, Kanetsky said.

Kanetsky is a co-senior author of the study, along with Katherine L. Nathanson, MD, a professor of Translational Medicine and Human Genetics at the Perelman School of Medicine at the University of Pennsylvania and a member of Penns Abraham Cancer Center. The papers lead author is Zhaoming Wang, who completed the study while at the National Cancer Institute. Funding for study was provided by the National Cancer Institutes Clinical Genetics Branch Familial Testicular Cancer Project (NCI 02-C-0178, NCT-0039598), TECAC (U01CA164947) and the National Institutes of Health (CA114478).

Excerpt from:

International Study Identifies New Genetic Risk Factors for Testicular Cancer - Lab Manager Magazine

In an interview with ETHealthworld, Dr. Sheela Namboothiri, Head, Paediatric Genetics, Amrita Institute of Medical Sciences, Kochi, talks on the lack of attention and awareness about genetic disorders in India. Edited excerpts:

Tell us something about the high incidences of genetic disorders in India.

One of the main reasons is the positive consanguinity. There are a lot of people who marry blood relatives and it is very prevalent in certain parts of India, especially in southern and northern parts of the Kerala. Other area where the consanguinity is very prevalent is Karnataka, Tamil Nadu and Andhra Pradesh.

Whenever people marry first cousins or a distinct relative what happens is that the chances of them to share the defective genes go up and so there is a high chance of them to have children with genetic disorders.

Even if there is no treatment option for genetic disorders, do you think genetic diagnosis is relevant?

It is very important because once you have a concrete diagnosis then only you can offer prenatal diagnosis for this couple. If they have one child who has a genetic disorder for which there is no treatment available, the parents are extremely upset and go from post to pillar for diagnosis.

They have real guilt in their mind because once they go to many hospitals they get to know that it has been branded as a genetic disorder. They think that they have given a defective gene to their child.

We should communicate with them, telling them that we are all human beings and we all have defective genes in our body. It is not their fault and this takes off the guilt part from their mind. It is extremely important for them to have a concrete idea so that they can do what is useful for that child.

How do you see the treatment options for genetic disorders?

People have a belief that there is no treatment aspect but currently there are certain genetic disorders for which treatment options are available.

The treatment for Lysosomal Storage Disorder is enzyme replacement therapy. Currently, we are treating 11 patients with lysosomal storage disorders in our own department.

Metabolic disorders definitely have treatment options if they have been diagnosed at the early stage and so it is extremely important to make a diagnosis at a very early stage so that the complications can be prevented.

What prompted you to start with the department of Pediatric Genetics at Amrita?

I have been working as a paediatrician for 12 years and then I got interested in genetics. I had my post graduate training in Genetics from the University of Glasgow from Scotland, came back and started this department in 2005.

This department has been there for the past 11 years and I am extremely happy that now we are able to help families with genetic disorders mainly from the point of view of making diagnosis.

In Kerala, the people are very much health conscious and there are many self referrals because now people are much more aware of the genetic disorders and the need for making diagnosis at an early stage.

Give us some insight on skeletal dysplasia.

My main area of interest is skeletal dysplasia, this group of patients have short stature and curved bones. These patients were always neglected and all were just clumped into one group of genetic disorders.

The main matter is that you want to know what exactly the patient is having so that at least we can prevent it in the future pregnancy.

The other thing is that there are some type of skeletal dysplasias for which treatments are available mainly in the form of a surgical repair. This way at least their morbidity can be reduced and they can live a better life.

Please tell us more about lysosomal storage disorder?

LSD is a condition where you have more than 50 disorders and in about 7 conditions there is treatment available. The main treatment is in the form of enzyme replacement therapy and currently for 5 conditions we are treating patients with LSD in our hospitals.

The conditions are Gaucher's disease, pompe disease, mucopolisacaridosis type I, type II and fabry disease. In these 5 conditions, what happens is that you want to make a diagnosis at an early stage because if the permanent damage has happened then it is very difficult to revert the systems.

The caveat here is that it extremely costly so patients cant pay from their own pocket. In India the main problem is that patients are paying from their own pocket whereas in western countries, the government this responsibility but here it is still in its infancy.

How did Namboothiri syndrome get its name.Your role and contribution?

There are more than 30,000 syndromes which have been named and when a new syndrome is identified which cant be fitted in with any of the known syndromes then it should be publicized in an international journal and it should be presented in the American Journal of Human Genetics meeting, where the experts will be accessing whether it is a completely unknown syndrome and then at some point in time that syndrome will be included into the London Dysmorphology database.

Many years back 2 patients who were siblings had come from northern parts of Kerala and both of them were having some abnormality of the feet. They were severe mental handicap with changes in the face which were not described before.

All the other conditions which could have some similarities with this condition were ruled out. It took somewhere around 56 years for us to formulate the condition and even now the gene has not yet been diagnosed. So we are in the process of identifying the gene which is responsible for this condition.

Tell us something about Amrita's role in supporting children with Down Syndrome.

We in the past 11 years have seen around 750 children with Down syndrome and it is extremely important for having to do something little extra for these patients rather than saying that you have the condition for which there is no cure.

There are so many families that as upset, so we wanted to go a little ahead and have a support system or support group so that the parents can have a helping hand from the other families who had gone through the same situation and how they coped with this situation.

It is named as Prathyasha, which means 'something to look forward to' in Malayalam. Here we conduct meetings twice a year where we call the families and experts who are handling children with Down syndrome. At the end of the program we give an opportunity to the children to express their talents. So every year the families really look forward as they find it very interesting to come and attend the function.

What is your message for pediatricians and others who deal with multiple abnormalities?

In many situations where a child has multiple abnormalities it is always written as multiple abnormalities and that is not going to be advantageous because we dont know what exactly the other child had. So if a child has very severe abnormalities then the child should be showed to a paediatrician and all the genetic features which you can see from outside should be documented.

Today everybody has a smartphone, we should always take a photograph of the child or a x-ray. These are two simple things which can be done by anybody which will help a lot because rather than saying that this child had an abnormality of the hand, we can see it in a photograph or the x-ray.

So this will be helping the geneticist in making a diagnosis in many situations and mainly in the skeletal dysplasia. Whenever you dont have a diagnosis it is always advisable to store EDTA blood sample for future DNA studies as it will be very useful if we need it at any point of time.

See the article here:

In genetic disorder cases, it is very important to take off the guilt from the parents mind: Dr. Sheela Namboothiri - ETHealthworld.com

The leading nonprofit organizationscreening Jewish couples for genetic diseases hasmore than doubled its testing capacity.

JScreen, based at the Emory University School of Medicines human genetics department, increased its testing panel from 100 to more than 200 disease genes that could affect a couples future offspring.

Many of these conditions happen in families where theres no known history, JScreen Executive Director Karen Grinzaid said in a phone interview. All of a sudden, a child is born, and theres a genetic problem. There is testing available to give people a heads-up about these things before they have kids.

One in three people of Jewish background unknowingly is a carrier for at least one Jewish genetic disease.

Conditions common in the Jewish population, such as Tay-Sachs, Gaucher disease, thalassemia, mucolipidosis Type IV, spinal muscular atrophy and Fragile X syndrome, are part of the nationwide screening process, andmany others are now included.

Half (the diseases) are common in the Jewish population; the other half are just common in the general population, Grinzaid said. Having this broader screening panel is important because, even though I may think Im 100 percent Ashkenazi, I dont absolutely know my background. Its possible there is other ancestry we dont know about. In addition to that, people have mixed backgrounds or may be in interfaith relationships.

She added, What were looking for are diseases where both parents seem healthy, but they dont know theyre carriers, so if they pass that gene onto a child, that child will have that condition.

Joining Grinzaid in the interview was Gail Heyman, a member of JScreens advisory board and a carrier of the Fragile X syndromepre-mutation who unknowingly passed on the condition to two of her children. Its a gene that has impacted our family greatly. Usually when you find a genetic disorder, its alarming.You dont know what to do, but after counseling, you can figure out what to do next.

That counseling sets the JScreenprocess apart, Grinzaid said. There are companies you get a kit from that just mail you results, and you have to figure out on your own what to do and what that all means for you and your family. People need to understand the results and what their options are. We wanted to make that support an integral part of our program.

If families have information, they have choices, Grinzaid said. You can have a conversation with your spouse about what you would or would not do if you were to have an affected child. Our goal is to get to people preconception, as much as possible, so they can make decisions on different reproductive options, such as in vitro fertilization or adoption, and maximize their chances of having a healthy family.

The screening for these diseases is done through DNA found in saliva samples using genetic sequencing technology, and JScreen operates under the direction of aphysician who specializes in genetics.

Another thing, Grinzaidsaid. People dont do it because they dont think its affordable, or maybe their insurance doesnt cover it, or theres a huge deductible. A lot of what we do is from philanthropic dollars, so even if their insurance covers nothing, its the same for everybody. That really helps improve access and encourage people to take advantage of the test, and the expanded screening really opens up the door for more people to participate.

The cost of the test, including counseling, is $149.

Originally posted here:

JScreen Doubles List of Tested Genetic Diseases - Atlanta Jewish Times

Keolu Fox. TED2016 Fellows. Photo: Bret Hartman / TED

This post is part of an ongoing series of interviews with the 2017 class of National Geographic Emerging Explorers.

GeneticistKeolu Foxis one of 14 National Geographic Emerging Explorers for 2017. This group is beinghonored for the way its members explore new frontiers and find innovative ways to remedy some of the greatest challenges facing our planet. The 2017 class of Emerging Explorers will be honored at the National Geographic Explorers Festival in Washington, D.C. in June.

Keolugrew up in Hawaii, immersed in thestrong cultural traditions and worldview of his native Hawaiian mother. His father grew up all over Israel and North Africa, and is of general European heritage, and had what Keolu describes as an untraditional education. He passed on that world-wide perspective and exposed the family to a lot of broad ideas early on. Those ideastook an interesting shape as Keolu studied archaeology and genome sciences, and began to formulate a new way of looking at human genetics.

Indigenous people, he realized, hold incredible stories of human adaptation to every environment and social situation on Earth. By empowering them to be more involved in genetic research and analysis, hes hoping to start a new chapter in our understanding of all the richness encoded in human DNA. And ultimately to put it to use for the better health and livelihood of everyone.

What is it that you hope to learn from studying the genomics of native people?

Its not specifically about native people in America or Yakut people in Siberia. While these are all fascinating populations of people, the thing that makes them fascinating for meis natural selection. Theres a treasure trove of information in theirDNAthat could benefit all of humanityand its the responsibility of scientific investigators to ensure that exploration of indigenous peoples genomes benefits that community as well, financially or otherwise.

We should be askingwhat makes people, human beings, extraordinary? What makes these people special? Why are these people adapted to high elevations? There are people from Greenland that have had this specific diet of marine mammals,high fat as well as omega 3. Why are we not seeing cardiovascular disease inthat population?

Why do the Sami people of Finland have protective genetic variation against heart disease? Whatever happens in terms of natural selection that results in that population having this protection could yield treatment for all humanity.

Meanwhile the rest of the field is functioning in a world where 95 percentof clinical trials are in white people. When youre looking at the percentages of genomes that have been sequenced, theyre not sequencing whatI would call the most interesting populations. Its just not happening. But there are real limitations for why its not happening.

Part of it is due to the communities we work with, and when you get a feeling for that you understand why that is.

So does it help that you have recent indigenous heritage of your own?

You are your culture, and you are your experiences. Soif youre trying to gain the trust of communities and you know the music theyre listening to, you can move the right way, you look the right way that certainly helps. You cant look like a scientist, right? You have to belike a human being. You cantbe your classic, traditional western lab-coat-wearing, glasses-wearingscientist. This is a different animal.

So there are very few people that have that skillset. It doesnt mean Im the best scientist in genomics, certainly not. And it doesnt mean Im the most authentic native but I happen to be in the right place at the right time.

Is there a way that this shift can happen more broadly?

You have elite educational institutions that are educating indigenous people and you can pass the torch that way. Thats what enables capacity building. Because then we go into our communities and we think about things in novel ways. We dont think about science the same way because were culturally different. The way we approach science is different.

Science is a cultural thing. As much as we like to imagine it as objective,its like a musical idea. The same central note patterns will take on entirely new colors and dimensions when being exploredby a different culture. Maybe that perspective is becoming more common.

I think weve known that for a long time. This indoctrination-by-academy way of approaching sciencehas been effective, but what is it really yielding? Its certainly not yielding innovation that is powerful for indigenous people. it doesnt enable us to recombine indigenous and western knowledge in novel approaches, solutions, treatments, etc.

As an example, the biggest thing that doctors should do is make people feel comfortable. Why do you need to look at the top of a chart to know your patients name?

So to me, thats a huge problem that science needs to overcome. But you are looking at the next generation of people that are going to occupy those spaces. We have met all the qualifications.

Is it difficult to move comfortably in both the western scienceand indigenous worlds?

One thing thats important here is how connected we are with social media and all that. Did you follow what happened in Hawaii with the whole construction of this giant telescopeon Mauna Kea? It was so interesting. For me, obviously Im a laboratory scientist, but if its at the cost of our community, and its at the cost of our aina [land],then I dont think that we should make decisions like that. Its a conservation sort of question. These are negotiations,and Im not an astrophysicist,but I have to step up on behalf of my community and get flown into this stuff.

The only thing I know how to do is speak from my heart. Keep it real.

When you think of yourself at work, what do you picture?

Its variable. One project will involve shipping resources, negotiating, engaging communities thatI havent met before. Making sure that were being respectful of indigenous peoples values and their culture. And then theres the hardcore science aspect of actually collecting information, making sure people understand what we do.The field stuff is always kind of unpredictable, but probably the most fun thing,I would say.

And then I work on other things where its just beingat work,conducting experimentsand thats just moving clear fluids around and like bro, thats not that exciting.It is exciting when you get results and theres this sort of a-ha moment were youre searching for something and you confirm your hypothesis. Thats a very western approach.Its very cool. And then you have the sort of computational aspect. The loads of frustrating time spent writing code that works. and then you have these miracle moments when it does work. HopefullyI can hire people to do that for me in the future. There are students coming up.

And what is that lab work actually like?

I have a bunch of projects that Im either collaborator on or Im the primary. One of them is leprosy based. Another were using genome editing to actually take variation thats been discovered in diverse populations and sort of copy and replace that into cell lines and then observe its function.

Lets say we find a genetic variant, and we think its involved in influencingsomething importantand its only found in Papua New Guinea or something. Well you can take that and do knock-in variations in human or mouse cells.

Ultimately we want to sequence interesting peopleoutliersbecause they have interesting genomes. And they will allow us to discover interesting things that have a bearing on the way that we understand biology.

How are new technologies helping you with this mission?

Mobile genome sequencing.A lot of times in indigenous communities what we have is what people sometimes call helicopter genomics or vampire genomics. Scientists come, get their data, go back to the lab, make discoveries, make tenure track, get in that new tax bracket, get the new BMW, put their kid in private school, and the cycle continues.

So for me its really important to de-black-box the technology to create transparency about whats going on. With mobile genome sequencing, you can actually bring the hardware to a community and with cloud computation you can actually perform your massively parallel sequence alignment and adaptation on-site, where you want, as long as you can acquire access to the internet (or sometimes you wont even need that to happen).

Its a game changer. It really is a game changer. And it think its going to have a profound bearing on the democratization of genome sequencing and genomic technologies.

Want to become a National Geographic Explorer? Learn how you can apply for a grant from the National Geographic Society.

Go here to read the rest:

National Geographic Emerging Explorer Keolu Fox Uncovers the Hidden Treasures of Human Adaptation - National Geographic

The Hindu

Novel compound inhibits lung cancer growth in lab studies The Hindu Our study focussed on killing tumour cells effectively without damaging the healthy cells, says Dr. Ganesh Venkatraman, professor at the Department of Human Genetics, Sri Ramachandra University, and co-author of the paper. The compound showed ...

Read more here:

Novel compound inhibits lung cancer growth in lab studies - The Hindu

A biology professor at the University of Washington in Seattle believes the stress caused by President Donald Trumps time in office will lead to a permanent change in human genetics.

Peter Ward, a professor who works in the earth and space sciences department of UWs College of the Environment, offered his bizarre prediction to Gizmodo earlier this weekwhen the publication asked a handful of evolutionary biologists, Can superhuman mutants be living among us?

Ward argued that significant traumas like abuse or military combat cancause permanent change to the human genome. He went on to suggest Trumps presidency is akin to those traumas and will have an evolutionary consequence on humanity.

Were finding more and more that, for instance, people who have gone through combat, or women who have been abused when you have these horrendous episodes in life, it causes permanent change, which is then passed on to your kids, he said. These are actual genetic shifts that are taking place within people.

Those shifts, Ward contended, can cause huge evolutionary change.

He added: On a larger scale, the amount of stress that Americans are going through now, because of Trump there is going to be an evolutionary consequence.

Earlier in his statement, the professor also predicted the U.S. military willmanipulate genetics to create some sort of superhuman soldiers.

A soldier whos much harder to bleed to death, or a soldier that doesnt need to drink as much water, or doesnt need to eat for five or six days, or doesnt need to sleep any one of these things would be an enormous advantage in warfare, he said.

This isnt the first time Ward has raised eyebrows for his ideas.

In his 2009 book The Medea Hypothesis: Is Life on Earth Ultimately Self-Destructive? Wardargued that life on earth will cause its own destruction in order to save the planet.

He argued at the time, The Christian Science Monitor reported, that life will self-destruct prematurely, many years before the sun, which he believes will begin to expand in roughly one billion years, burns the biosphere away.

See more here:

Biology professor: Trump's presidency will permanently alter human ... - TheBlaze.com

A biology professor at the University of Washington in Seattle believes the stress caused by President Donald Trumps time in office will lead to a permanent change in human genetics.

Peter Ward, a professor who works in the earth and space sciences department of UWs College of the Environment, offered his bizarre prediction to Gizmodo earlier this weekwhen the publication asked a handful of evolutionary biologists, Can superhuman mutants be living among us?

Ward argued that significant traumas like abuse or military combat cancause permanent change to the human genome. He went on to suggest Trumps presidency is akin to those traumas and will have an evolutionary consequence on humanity.

Were finding more and more that, for instance, people who have gone through combat, or women who have been abused when you have these horrendous episodes in life, it causes permanent change, which is then passed on to your kids, he said. These are actual genetic shifts that are taking place within people.

Those shifts, Ward contended, can cause huge evolutionary change.

He added: On a larger scale, the amount of stress that Americans are going through now, because of Trump there is going to be an evolutionary consequence.

Earlier in his statement, the professor also predicted the U.S. military willmanipulate genetics to create some sort of superhuman soldiers.

A soldier whos much harder to bleed to death, or a soldier that doesnt need to drink as much water, or doesnt need to eat for five or six days, or doesnt need to sleep any one of these things would be an enormous advantage in warfare, he said.

This isnt the first time Ward has raised eyebrows for his ideas.

In his 2009 book The Medea Hypothesis: Is Life on Earth Ultimately Self-Destructive? Wardargued that life on earth will cause its own destruction in order to save the planet.

He argued at the time, The Christian Science Monitor reported, that life will self-destruct prematurely, many years before the sun, which he believes will begin to expand in roughly one billion years, burns the biosphere away.

Original post:

Biology professor: Trump's presidency will permanently alter human genetics - TheBlaze.com

The human species has significantly evolved during the last two centuries. Our population on Earth has exploded from about one billion to over seven billion people. And we've even changed physically as more humans are taller now than ever before.

But despite all of the natural changes the human species has undergone here on earth, a bigger change looms - one that's light years away, literally.

Some of the biggest names in science and technology have been calling for the colonization of Mars, including visionaries like SpaceX CEO Elon Musk and physicist Stephen Hawking. They agree that populating other planets could ensure the survival of the human race when the Earth is rendered uninhabitable by a disaster.

RELATED: See photos of the surface of Mars

12 PHOTOS

Surface of Mars

See Gallery

Portions of the Martian surface shot by NASA's Mars Reconnaissance Orbiter show many channels from 1 meter to 10 meters wide on a scarp in the Hellas impact basin, in this photograph taken January 14, 2011 and released by NASA March 9, 2011. Scientists have found the first evidence that briny water may flow on the surface of Mars during the planet's summer months, a paper published on Monday showed. Researchers found telltale fingerprints of salts that form only in the presence of water in narrow channels cut into cliff walls throughout the planet's equatorial region. REUTERS/NASA/JPL-Caltech/Univ. of Arizona/Handout FOR EDITORIAL USE ONLY. NOT FOR SALE FOR MARKETING OR ADVERTISING CAMPAIGNS. THIS IMAGE HAS BEEN SUPPLIED BY A THIRD PARTY. IT IS DISTRIBUTED, EXACTLY AS RECEIVED BY REUTERS, AS A SERVICE TO CLIENTS

Dark, narrow, 100 meter-long streaks on Mars inferred to have been formed by contemporary flowing water are seen in an image produced by NASA, the Jet Propulsion Laboratory (JPL) and the University of Arizona. Scientists have found the first evidence that briny water may flow on the surface of Mars during the planet's summer months, a paper published on Monday showed. NASA/JPL/University of Arizona/Handout THIS IMAGE HAS BEEN SUPPLIED BY A THIRD PARTY. IT IS DISTRIBUTED, EXACTLY AS RECEIVED BY REUTERS, AS A SERVICE TO CLIENTS. FOR EDITORIAL USE ONLY. NOT FOR SALE FOR MARKETING OR ADVERTISING CAMPAIGNS

Dark narrow streaks called recurring slope lineae emanating out of the walls of Garni crater on Mars are seen in an image produced by NASA, Jet Propulsion Laboratory (JPL) and the University of Arizona. Scientists have found the first evidence that briny water may flow on the surface of Mars during the planet's summer months, a paper published on Monday showed. NASA/JPL/University of Arizona/Handout THIS IMAGE HAS BEEN SUPPLIED BY A THIRD PARTY. IT IS DISTRIBUTED, EXACTLY AS RECEIVED BY REUTERS, AS A SERVICE TO CLIENTS. FOR EDITORIAL USE ONLY. NOT FOR SALE FOR MARKETING OR ADVERTISING CAMPAIGNS

A circular depression on the surface of Mars is pictured in his image acquired on Jan. 5, 2015 by the High Resolution Imaging Science Experiment (HiRISE) camera on NASA's Mars Reconnaissance Orbiter (MRO), provided by NASA. The spacecraft has been orbiting Mars since March 2006 and completed its 40,000th orbit around Mars on Feb. 7, 2015. REUTERS/NASA/JPL-Caltech/University of Arizona/Handout

NASA's Mars rover Curiosity's hole drilled into a rock target, "Cumberland," on Mars on May 19, 2013 is shown in this NASA photo. NASA?s Mars rover Curiosity has found carbon-containing compounds in samples drilled out of an ancient rock, the first definitive detection of organics on the surface of Earth?s neighbor planet, scientists said on Tuesday. REUTERS/NASA/Handout (OUTER SPACE - Tags: SCIENCE TECHNOLOGY) FOR EDITORIAL USE ONLY. NOT FOR SALE FOR MARKETING OR ADVERTISING CAMPAIGNS. THIS IMAGE HAS BEEN SUPPLIED BY A THIRD PARTY. IT IS DISTRIBUTED, EXACTLY AS RECEIVED BY REUTERS, AS A SERVICE TO CLIENTS

NASA's Mars Exploration Rover Opportunity is shown in this handout photo released to Reuters July 29, 2014. Opportunity has set a new off-Earth, off-road distance record, logging just over 25 miles (40 km) on the surface of the Red Planet to surpass the old benchmark set in 1973 by a Russian probe on the moon. REUTERS/NASA/JPL-Caltech/Cornell Univ./Arizona State University/Handout (UNITED STATES - Tags: SCIENCE TECHNOLOGY) FOR EDITORIAL USE ONLY. NOT FOR SALE FOR MARKETING OR ADVERTISING CAMPAIGNS. THIS IMAGE HAS BEEN SUPPLIED BY A THIRD PARTY. IT IS DISTRIBUTED, EXACTLY AS RECEIVED BY REUTERS, AS A SERVICE TO CLIENTS

This image from the right Mast Camera (Mastcam) of NASA's Curiosity Mars rover shows rough spherical features on the surface of the planet in an area called 'Yellowknife Bay' in this NASA handout released January 15, 2013. These features are interpreted as concretions, implying they formed in water that percolated through pores in the sediment. Spherical concretions have previously been discovered in other rocks on Mars. REUTERS/NASA/JPL-Caltech/MSSS/Handout (OUTERSPACE - Tags: SCIENCE TECHNOLOGY ENVIRONMENT) FOR EDITORIAL USE ONLY. NOT FOR SALE FOR MARKETING OR ADVERTISING CAMPAIGNS. THIS IMAGE HAS BEEN SUPPLIED BY A THIRD PARTY. IT IS DISTRIBUTED, EXACTLY AS RECEIVED BY REUTERS, AS A SERVICE TO CLIENTS

An image from the Mast Camera (Mastcam) on NASA's Mars rover Curiosity shows the surface of the planet with inclined layering known as cross-bedding in an outcrop called "Shaler" on a scale of a few tenths of a meter, or decimeters (1 decimeter is nearly 4 inches) in this NASA handout released January 15, 2013. REUTERS/NASA/JPL-Caltech/MSSS/Handout (OUTERSPACE - Tags: SCIENCE TECHNOLOGY ENVIRONMENT) FOR EDITORIAL USE ONLY. NOT FOR SALE FOR MARKETING OR ADVERTISING CAMPAIGNS. THIS IMAGE HAS BEEN SUPPLIED BY A THIRD PARTY. IT IS DISTRIBUTED, EXACTLY AS RECEIVED BY REUTERS, AS A SERVICE TO CLIENTS

The surface of the planet Mars inside Gale's Crater is shown as NASA's Mars rover Curiosity drives toward a flat rock with pale veins that may hold clues to a wet history on the planet in this NASA handout photo released January 15, 2013. If the rock meets rover engineers' approval when Curiosity rolls up to it in coming days, it will become the first to be drilled for a sample during the Mars Science Laboratory mission. REUTERS/NASA/Handout (OUTERSPACE - Tags: SCIENCE TECHNOLOGY ENVIRONMENT) FOR EDITORIAL USE ONLY. NOT FOR SALE FOR MARKETING OR ADVERTISING CAMPAIGNS. THIS IMAGE HAS BEEN SUPPLIED BY A THIRD PARTY. IT IS DISTRIBUTED, EXACTLY AS RECEIVED BY REUTERS, AS A SERVICE TO CLIENTS

NASA's Mars Science Laboratory rover Curiosity appears as a bluish dot near the lower right corner of this enhanced-color view from the High Resolution Imaging Science Experiment (HiRISE) camera on NASA's Mars Reconnaissance Orbiter taken on June 27, 2013 and released on July 24, 2013. The rover's tracks are visible extending from the landing site, "Bradbury Landing," in the left half of the scene. Two bright, relatively blue spots surrounded by darker patches are where the Mars Science Laboratory spacecraft's landing jets cleared away reddish surface dust at the landing site. REUTERS/NASA/JPL-Caltech/Univ. of Arizona/Handout via Reuters (OUTER SPACE - Tags: ENVIRONMENT SCIENCE TECHNOLOGY) ATTENTION EDITORS - THIS IMAGE WAS PROVIDED BY A THIRD PARTY. FOR EDITORIAL USE ONLY. NOT FOR SALE FOR MARKETING OR ADVERTISING CAMPAIGNS. THIS PICTURE IS DISTRIBUTED EXACTLY AS RECEIVED BY REUTERS, AS A SERVICE TO CLIENTS

A rock outcrop called Link pops out from a Martian surface in this NASA handout image taken by the 100-millimeter Mast Camera on NASA's Curiosity Mars rover September 2, 2012 and released September 27, 2012. Rounded gravel fragments, or clasts, up to a couple inches (few centimeters) in size are in a matrix of white material. The outcrop characteristics are consistent with a sedimentary conglomerate, or a rock that was formed by the deposition of water and is composed of many smaller rounded rocks cemented together. Scientists enhanced the color in this version to show the Martian scene as it would appear under the lighting conditions we have on Earth, which helps in analyzing the terrain. REUTERS/NASA/JPL-Caltech/MSSS/Handout (UNITED STATES - Tags: SCIENCE TECHNOLOGY) THIS IMAGE HAS BEEN SUPPLIED BY A THIRD PARTY. IT IS DISTRIBUTED, EXACTLY AS RECEIVED BY REUTERS, AS A SERVICE TO CLIENTS. FOR EDITORIAL USE ONLY. NOT FOR SALE FOR MARKETING OR ADVERTISING CAMPAIGNS

HIDE CAPTION

SHOW CAPTION

In an effort to preserve humankind, scientists and engineers are rapidly developing the technology necessary for interplanetary travel to Mars. But that very journey to Mars, scientists say, would likely permanently change human biology, thus, creating a new species.

"As soon as you get into space, we've seen thousands of genes changing their structure. What we've seen now in the last couple years of study is that some of these genes return to their normal state when they return back to Earth, but there are still hundreds that are perturbed," Christopher Maison, an Associate Professor of Computational Genomics in Computational Biomedicine at Cornell University, said Thursday while speaking at the "Evolution Beyond Earth" program held at New York University.

"What people have noticed is actually within minutes of going into space you start to experience lots of changes," Ting Wu, molecular biologist and Genetics Professor at Harvard Medical School, who was also sitting alongside Maison on the panel, added in an interview with AOL News. A lot these changes occur on account of the human's physiological genetic response to space travel, Wu said, as the human body acclimates to the new environment.

SEE ALSO: This is what summer on the Red Planet looks like

Astronauts have faced a range of health impacts during extend periods of time in space, including bone loss, muscle atrophy, kidney stones, and eye problems. And, interestingly enough, when astronauts return to Earth, even when earthly environmental factors force them to then re-acclimate to their birth planet, they still never completely return to their original state prior to entering space.

But the story will change for those who don't return to Earth, more notably, the first group of humans that will colonize Mars.

"Within a few generations you would probably have a more extensive version of what humans would go through in the space station," Wu said, adding that by the second or third generation, we will begin to see alterations in genes as a result of these effects.

RELATED: Most iconic photos in space travel history

22 PHOTOS

Most iconic photos in space travel history

See Gallery

Photograph of the far side of the moon taken by the luna 3 space probe on october 28, 1959. (Photo by: Sovfoto/UIG via Getty Images)

Earth Rise Viewed From The Moon, The First Photograph Of Earth Taken From The Vicinity Of The Moon, Captured By Lunar Orbiter 1, Aug, 23, 1966. (Photo By Encyclopaedia Britannica/UIG Via Getty Images)

UNITED STATES - FEBRUARY 03: The American Scientists William Pickering, James Van Allen And Werner Von Braum (From Left To Right) Raising A Replica Of The Explorer Satellite During A Press Conference In Washington, In Which They Announced Its Being Put Into Orbit, On February 3, 1958. (Photo by Keystone-France/Gamma-Keystone via Getty Images)

Soviet cosmonaut yuri gagarin, first man in space, in the capsule of vostok 1, april 12, 1961. (Photo by: Sovfoto/UIG via Getty Images)

Astronaut Edward White in Extravehicular Activity, during the Gemini 4 mission, He spent 21 minutes, outside the capsule (June 3, 1965). (Photo by Photo12/UIG/Getty Images)

NEW YORK, USA - UNDATED: Large color photograph, 20 by 16 inches, of a nearly nose-on view of the Gemini 7 spacecraft as seen and photographed by Tom Stafford onboard Gemini 6. Part of Gemini 6 is seen in the foreground. INSCRIBED AND SIGNED: 'Gemini 6 & 7, Tom Stafford, Plt, 15 Dec 1965' and additionally signed by WALLY SCHIRRA with 'CDR.' Estimate: $1,000 - 1,500. When Bonhams had their first space sale last year it became the highest-grossing American space history auction ever. On 13th April 2010 Bonhams will be selling more incredible space lots. Timed to coincide with the anniversary of Apollo 13, the sale comprises almost 300 lots including flight plan sheets, emblems, medallions, hardware, models, lunar surface equipment, charts and photographs. Many items come directly from astronauts' own collections. (Photo by Bonhams / Barcroft Media / Getty Images)

(GERMANY OUT) Apollo 1 disaster: a tragedy struck the Apollo 1 mission when a fire inside the space capsule caused the death of all three astronauts (3 weeks before its planned launch) - the exterior of the burned space capsule (Photo by Astro-Graphs/ullstein bild via Getty Images)

376713 15: (FILE PHOTO) The Apollo 11 Saturn V space vehicle lifts off July 16, 1969 from Kennedy Space Center's Launch Complex in Florida. The space craft was injected into lunar orbit on July 19 with Astronauts Neil A. Armstrong, Michael Collins and Edwin E. Aldrin Jr. on board. The 30th anniversary of the Apollo 11 Moon landing mission is celebrated July 20, 1999. (Photo by NASA/Newsmakers)

NBC NEWS -- Apollo 11 Moon Landing -- Pictured: (l-r) Kinescope images of astronaut Commander Neil Armstrong taking the first steps on the moon during the Apollo 11 Space Mission's moon landing for the first time in history on July 21, 1969 (Photo by NBC NewsWire/NBC/NBCU Photo Bank via Getty Images)

UNSPECIFIED - CIRCA 1754: US Astronaut Buzz Aldrin, walking on the Moon July 20 1969. Taken during the first Lunar landing of the Apollo 11 space mission by NASA. (Photo by Universal History Archive/Getty Images)

Earth Day, first held April 22, 1970, is now celebrated every year by more than a billion people in 180 nations around the world. All work together for the common goal of preserving the Earth and leaving it a better place for the future. This photo of Earth is from 1972. (Photo by NASA/MCT/MCT via Getty Images)

Damaged Apollo 13 Service Module, The Severely Damaged Apollo 13 Service Module (Sm) As Photographed From The Lunar Module/Command Module, An Entire Panel On The Sm Was Blown Away By The Explosion Of An Oxygen Tank. (Photo By Encyclopaedia Britannica/UIG

UNITED STATES - MAY 13: Pioneer 11, launched by NASA on 6th April 1973, returned the first close-up pictures of the ringed planet Saturn. The results, although visually spectacular, were rather disappointing from a scientific point of view. The second largest planet in the Solar System, Saturn was first observed through a telescope by Galileo in 1610, but its rings were not identified until 1659, by Christiaan Huygens. It is a gas giant similar in atmospheric composition to Jupiter, and rotates very quickly, causing it to appear oblate (flattened at the poles). The rings are composed of ice and ice-coated dust and rock. Their origin and formation are not precisely understood, but it seems that tidal effects caused by some of Saturns moons play a role in maintaining their structure. (Photo by SSPL/Getty Images)

UNITED STATES - APRIL 24: This spectacular view of Skylab, clearly showing the sun shield, was taken by the crew of Skylab 4, the last manned mission to the space station, as they returned home. Skylab 4 Astronauts Gerald Carr, Edward Gibson and William Pogue lived aboard Skylab from 16th November 1973 to 8th February 1974 setting what was then a world spaceflight endurance record of 84 days. Skylab was intended to have two solar panels to supply electrical power to the station, but when the station arrived in orbit in 1973, one was found to be missing, while the other had not deployed. The first crew to visit the station made a spacewalk and were able to deploy the panel, restoring power to Skylab. The absence of the missing panel can clearly be seen in this picture. (Photo by SSPL/Getty Images)

21st July 1976: The first colour photograph taken on the surface of the planet Mars, by the Viking 1 probe. (Photo by MPI/Getty Images)

This dramatic view of Jupiter's Great Red Spot and its surroundings was obtained by Voyager 1 on Feb. 25, 1979. (Photo by: Universal History Archive/UIG via Getty Images)

UNITED STATES - JANUARY 13: The age of the Space Shuttle begins with the launch of Columbia on the STS-1 mission. Commander John Young and Pilot Robert Crippen were at the controls. (Photo by SSPL/Getty Images)

UNITED STATES - OCTOBER 29: Mission Specialist Bruce McCandless II is seen further away from the confines and safety of his ship than any previous astronaut has ever been. This space first was made possible by the Manned Manuevering Unit or MMU, a nitrogen jet propelled backpack. After a series of test maneuvers inside and above Challengers payload bay, McCandless went free-flying to a distance of 320 feet away from the Orbiter. This stunning orbital panorama view shows McCandless out there amongst the black and blue of Earth and space. (Photo by SSPL/Getty Images)

IN SPACE: In this NASA handout, a view of nearly 10,000 galaxies are seen in a Hubble Telescope composite photograph released March 9, 2004. The Hubble Ultra Deep Field (HUDF) photograph is a composite of a million one-second exposures and reveals galaxies from the time shortly after the big bang. (Photo by NASA/Getty Images)

Four images from New Horizons Long Range Reconnaissance Imager (LORRI) were combined with color data from the Ralph instrument to create this sharper global view of Pluto. (The lower right edge of Pluto in this view currently lacks high-resolution color coverage.) The images, taken when the spacecraft was 280,000 miles (450,000 kilometers) away from Pluto, show features as small as 1.4 miles (2.2 kilometers). Thats twice the resolution of the single-image view captured on July 13 and revealed at the approximate time of New Horizons July 14 closest approach. (Photo viaNASA/JHUAPL/SwRI)

These dark, narrow, 100 meter-long streaks called recurring slope lineae flowing downhill on Mars are inferred to have been formed by contemporary flowing water. Recently, planetary scientists detected hydrated salts on these slopes at Hale crater, corroborating their original hypothesis that the streaks are indeed formed by liquid water. The blue color seen upslope of the dark streaks are thought not to be related to their formation, but instead are from the presence of the mineral pyroxene. The image is produced by draping an orthorectified (Infrared-Red-Blue/Green(IRB)) false color image (ESP_030570_1440) on a Digital Terrain Model (DTM) of the same site produced by High Resolution Imaging Science Experiment (University of Arizona). Vertical exaggeration is 1.5. (Photo byNASA/JPL/University of Arizona)

HIDE CAPTION

SHOW CAPTION

"There is evidence now that an individual organism will be able to pick up on a response or a trait developed by its parent that will be inheritable for generations until the stimulus from which it was created disappears," Wu said.

And the idea of an organism passing down characteristics it has acquired in its lifetime to its offspring -- or Lamarckism -- has scientists speculating colonists on Mars could evolve into a kind of species after years of isolation on the red planet -- where sunlight and gravity are much weaker than on Earth and mutation-causing radiation is more intense, which may result in the bodies of Mars colonists to change entirely.

But, speciation is a long-term process that typically requires reproductive isolation for billions of years, Wu said. "I believe the evolution of a new species on another planet that would be broad enough and extensive to generate a group of people that represents a new species would take a lot longer than a couple generations."

More from AOL.com: Black hole event horizons are real, new evidence suggests Scientists discover scorching planet hotter than most stars Scientists perplexed by giant mystery hole found on Mars

Read more here:

Colonizing Mars could spark new kind of super human species - AOL

Fruit flies show some links between genetics and behaviour that are surprisingly similar to those in humans.

Susumu Nishinaga / Getty

Scientists are creeping closer to the genetic mechanisms that underpin schizophrenia and bipolar disorder through inducing aggression in fruit flies.

A team led by Liesbeth Zwarts of Belgiums University of Leuven are studying how altered levels of a protein associated with a gene thought to be linked to mental illness affects behaviour.

In humans, mutations of the gene known as PRODH, situated on chromosome 22, has been associated with the development of schizophrenia, bipolar disorder and some other, rarer, neurological conditions. Its influence has been confirmed in mouse studies, but the precise mechanisms by which it works have remained little understood.

To try to throw some light on the subject, Zwarts and her colleagues looked at the role of an almost identical fruit fly gene, known as slgA.

In a previous study, in 2008, the team had established that neutralising slgA induced aggressive behaviour in fruit flies. Manipulating levels and different proteins expressed by the gene (known as isoforms) thus made for a promising avenue into understanding the functions that underpin the sort of aggression that often typifies mental illness in humans.

Reporting in the journal Disease Models and Mechanisms, the scientists reveal that although slgA is found throughout the fruit fly brain, only the slgA found in an area known as the lateral neurons ventral (LNv) produced aggression when manipulated.

The results suggest that particular behaviours maybe linked to protein components in specific cell types, and that disruption to the metabolism of those specific types may be what catalyses abnormal behaviour.

Interestingly, the lateral neurons ventral are also known to play a key role in regulating circadian rhythms, which determine the sleep/wake cycle in flies and humans both.

Disruption to circadian rhythms has previously been identified as a driver for neurological disorders. However, Zwarts and her colleagues established that changing the activity of the slgA gene did not affect the cells circadian regulation.

Thus, the lateral neurons ventral may affect mental health in at least two although separate ways.

The team plans to continue its investigation, using the fruit fly model to assist in determining why current treatments for neuropsychiatric disorders in humans dont always work.

Once we have demonstrated the direct relevance of our Drosophila models for psychiatric disorders, we aim to pursue drug screens, says team member Patrick Callaerts.

In that sense our work may contribute to defining alternative treatment options.

Originally posted here:

Aggro fruit flies may hold genetic keys to human mental illness - Cosmos

A biology professor has claimed that the mass trauma of Donald Trumps presidency will bring about permanent changes to the human genome.

Peter Ward, an academic at the University of Washington, predicted an evolutionary consequence because of the stress Trumps term in the White House is causing the American population.

He asserted that the process by which human genetics could change is analogous to post-traumatic stress disorder in soldiers or the the victims of domestic abuse.

The unconventional view came in a discussion of human capacity to mutate with the science blog (andGawker offshott)Gizmodo.

Ward was one of seven academics asked to bring their expertise to bear on the question of whether and how X-Men-stylesuperhuman mutants could develop.

After speculating about using gene therapy to develop super-soldiers, Ward went on to posit that permanent genetic changes canoccur as a result of horrendous episodes people go through.

He was not asked about Trump, but brought him up as an example, alongside combat trauma and violence at home:

Were finding more and more that, for instance, people who have gone through combat, or women who have been abusedwhen you have these horrendous episodes in life, it causes permanent change, which is then passed on to your kids. These are actual genetic shifts that are taking place within people. Its called epigenetics, and that too can cause huge evolutionary change.

On a larger scale, the amount of stress that Americans are going through now, because of Trumpthere is going to be an evolutionary consequence.

Go here to read the rest:

Biology Prof: Trump Presidency Is So Traumatic It Will Change Human Genome Forever - Heat Street