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Ethereum Price Forecast and Analysis – September 14, 2017

ETH prices fell roughly 11.36% in the last 24 hours to near $238.72. At the same time, the Ethereum to Bitcoin exchange rate dropped almost 5.44%.

The biggest piece of Ethereum news today is the potential Chinese crackdown on cryptocurrency exchanges. Well, that and the recent comments from Jamie Dimon, CEO of JPMorgan Chase & Co. (NYSE:JPM).

Both of these developments dragged down the short-run Ethereum price.

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Ethereum Price Forecast and Analysis – September 14, 2017

Ripple Price Forecast and Analysis – September 14, 2017

XRP prices took a tumble in the last 24 hours, falling below the $0.20 handle as fears of a Chinese crackdown solidified. The Ripple to USD exchange rate fell roughly 3.58%, while the Ripple to Bitcoin rate only edged down by around 0.08%.

Most of the pessimism was drawn from China’s potential closure of cryptocurrency exchanges.

Here’s a rough sketch of what we know and when we knew it.

Last week, there were rumors that the government was.

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Ripple Price Forecast and Analysis – September 14, 2017

Litecoin Price Forecast and Analysis – September 14, 2017

In an unexpected twist, today’s Litecoin news revolves around Jamie Dimon, CEO of JPMorgan Chase & Co. (NYSE:JPM), and an obscure Chinese think tank called China’s National Internet Finance Association (NIFA).

Let’s start with Wall Street’s poster boy.

While speaking at a conference in New York, Dimon claimed that Bitcoin “is a fraud” and will blow up before long. “It’s worse than tulip bulbs,” he said, in reference to the famous asset bubble from the 1600s.

Dimon claimed that there would be significant losses for anyone “stupid” enough to trade cryptocurrencies. (Source: “.

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Litecoin Price Forecast and Analysis – September 14, 2017

Ripple Price Forecast and Analysis – September 18, 2017

For the first time in a week, cryptocurrencies stuck their heads above water. The Ripple-to-USD exchange rate jumped 7.13% to $0.188622, while simultaneously falling 4.22% against Bitcoin.

China’s ban on cryptocurrency exchanges was once again the biggest piece of Ripple news. This time, however, prices moved to the upside, because investors realized that last week’s reaction was a little excessive (if not downright apocalyptic).

What makes it worse is that Ripple didn’t deserve the beating it took last week.

For one thing, less than five percent of its.

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Ripple Price Forecast and Analysis – September 18, 2017

Litecoin Price Forecast and Analysis – September 18, 2017

Despite China taking a bat to Litecoin’s knees, the Litecoin-to-USD exchange rate bounced up about 9.68% to roughly $51.89. “What explosive piece of Litecoin news caused this rally?” you ask.

Oddly, nothing in particular.

This was a see-saw moment for Litecoin prices. After tilting hard towards the bearish side last week, investors pushed off the bottom to bring LTC prices back above $50.00.

Perhaps they thought the reaction to China’s ban on cryptocurrency exchanges was a tad overblown. Or perhaps they thought LTC is a buy under $50.00.

In either case, the surge in prices is likely to continue now that the fog of uncertainty has lifted.

Last week, we knew nothing.

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Litecoin Price Forecast and Analysis – September 18, 2017

Ethereum Price Forecast and Analysis – September 18, 2017

Hallelujah! After a week of non-stop pain, investors finally moved past China’s ban on cryptocurrency exchanges. They bid up prices, bet on fundamentals, and were rewarded with flashing green numbers on their trading monitors.

For instance, the Ethereum-to-USD exchange rate jumped 17% to $280.69 on Sunday.

Considering that it slipped below $200.00 on Friday, the rebound was particularly steep. Who said there’s no resilience in cryptocurrencies? It took less than a week to shrug off China’s ban, which was definitely more than a flesh wound.

Ethereum gained.

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Ethereum Price Forecast and Analysis – September 18, 2017

This Cryptocurrency Could Be the Next Bitcoin

Bitcoin Turned $25 into $34 Million
Bitcoin, bitcoin, bitcoin, bitcoin, bitcoin, bitcoin…bitcoin. It’s all that anyone seems to be talking about, yet the volatility of Bitcoin is terrifying. Double-digit swings are a normal occurrence. And no one can explain what it does, at least not in plain English.

But there’s no denying that Bitcoin is a gold mine.

Investors who bought BTC coins in 2013 would have gained 2,411% by now. And those who “mined” the currency made even bigger returns..

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This Cryptocurrency Could Be the Next Bitcoin

Ripple Price Forecast and Analysis – September 15, 2017

As with the rest of the cryptocurrency market, China takes center stage in our Ripple news update. It’s the only thing that matters at the moment, though one could argue that XRP is unfairly caught in the crossfire.

After all, less than five percent of Ripple’s trading volume comes from within China. Add that to the fact that the ban is on trading, and not “blockchain activities,” and it seems like Ripple’s eastward expansion is still on track.

What the regulators objected to was the “disorder” of cryptocurrency exchanges. They aren’t fond of chaos. But.

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Ripple Price Forecast and Analysis – September 15, 2017

Ethereum Price Forecast and Analysis – September 15, 2017

China is the only Ethereum news that matters today, as crypto markets continue to reel from a Chinese crackdown on local exchanges. The entire crypto market is under siege.

Ethereum to USD prices are down about 20.85% and Ethereum to Bitcoin prices dropped roughly 3.1%, suggesting that investors are coalescing around the market leader in times of uncertainty.

With ETH prices touching a two-month low at $201.62, many are wondering when the pain will stop. The truth is, there might be more pain to come.

Two of China’s largest cryptocurrency exchanges have not yet shut.

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Ethereum Price Forecast and Analysis – September 15, 2017

Litecoin Price Forecast and Analysis – September 15, 2017

It’s a bloodbath out there, folks.

As predicted, the Litecoin news coming out of China has wreaked havoc on its price, driving the Litecoin to USD down about 31.73% to roughly $38.10.

Litecoin hasn’t traded at these levels since the start of the summer, when it was riding high on a spectacular ascent. Even a week ago, it brushed new all-time highs.

However, much of that optimism was blunted by the Chinese government’s crackdown on domestic cryptocurrency exchanges. The story came out in dribs and drabs, sucking out confidence in the market like a leech.

Smaller exchanges were the first to pack up, but now some of the bigger exchanges are closing their doors as well. For.

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Litecoin Price Forecast and Analysis – September 15, 2017

UCLA Human Genetics

The Department of Human Genetics is the youngest basic science department in the Geffen School of Medicine at UCLA. When the Department was launched just prior to the sequencing of the human genome, it was clear that the practice of genetics research would be forever changed by the infusion of massive amounts of new data. Organizing and making sense of this genomic data is one of the greatest scientific challenges ever faced by mankind. The knowledge generated will ultimately transform medicine through patient-specific treatments and prevention strategies.

The Department is dedicated to turning the mountains of raw genetic data into a detailed understanding of the molecular pathogenesis of human disease. The key to such understanding is the realization that genes not only code for specific proteins, but they also control the temporal development and maturation of every living organism through a complex web of interactions.

Housed in the new Gonda Research Center, the Department serves as a focal point for genetics research on the UCLA campus, with state of the art facilities for gene expression, sequencing, genotyping, and bioinformatics. In addition to its research mission, the Department offers many exciting training opportunities for graduate students, postdoctoral fellows, and medical residents. Our faculty and staff welcome inquiries from prospective students. We also hope that a quick look at our web pages will give you a better idea of the Department’s research and educational activities.

News Highlights

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UCLA Human Genetics

Human Genetics Eccles Institute of Human Genetics

The Department of Human Genetics is dedicated to studying the genetic control of development and disease. Research interests of our faculty are wide-ranging and include the identification of genes implicated in human disease using the major model systems for genetic research: C. elegans, Drosophila, mice, and zebrafish. Our research interests include bioinformatics, genomics, statistical genetics, population genetics, clinical genetics, and evolution. Evolutionarily-conserved genetic pathways important for development, growth, and physiology are a major focus of study as well as the genetics underlying disease risk and complex disease traits. Researchers in the Department collaborate widely with both basic science and clinical labs on campus. Our faculty also participate actively in graduate education. The Eccles Institute of Human Genetics houses graduate programs in Genetic Counseling and Molecular Biology as well as the Genetic Science Learning Center, which develops science and health education materials for the public and public educators.

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Human Genetics Eccles Institute of Human Genetics

The Dr. John T. Macdonald Foundation Department of Human …

Our mission is to become a world renowned Center of Excellence in the areas of human genetics, genomic research and clinical genomic medicine. Using clinically advanced technology, state-of-the-art equipment and highly trained professionals, we aim to uncover the genetic contributions to disease, apply our findings to better patient care, and educate the geneticists and genomicists of tomorrow.

Established through the generous support of the Dr. John T. Macdonald Foundation, we are committed to the identification of genes and gene networks that cause diseases. We are in an extraordinary period of growth, especially since the completion of the Human Genome Project in 2003. Our recognition spans far beyond traditional single-gene disorders such as sickle cell anemia and cystic fibrosis, and now encompasses knowledge associated with complex conditions such as autism, Alzheimer disease and Parkinson disease.

Like the field of Human Genetics, the University of Miami Miller School of Medicine is undergoing a period of dynamic expansion. Our vision is to manage a state-of-the-art department that will identify disease-causing genes and networks of genes, investigate possible treatments, and redefine our understanding of medicine in the 21st century. We are in an extraordinary period of growth that will position the University of Miami Miller School of Medicine as the leader in genetics and genomics research, education and service in South Florida. Thank you for visiting!

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The Dr. John T. Macdonald Foundation Department of Human …

Genetics | The Smithsonian Institution’s Human Origins Program

DNA

Through news accounts and crime stories, were all familiar with the fact that the DNA in our cells reflects each individuals unique identity and how closely related we are to one another. The same is true for the relationships among organisms. DNA, or deoxyribonucleic acid, is the molecule that makes up an organisms genome in the nucleus of every cell. It consists of genes, which are the molecular codes for proteins the building blocks of our tissues and their functions. It also consists of the molecular codes that regulate the output of genes that is, the timing and degree of protein-making. DNA shapes how an organism grows up and the physiology of its blood, bone, and brains.

DNA is thus especially important in the study of evolution. The amount of difference in DNA is a test of the difference between one species and another and thus how closely or distantly related they are.

While the genetic difference between individual humans today is minuscule about 0.1%, on average study of the same aspects of the chimpanzee genome indicates a difference of about 1.2%. The bonobo (Pan paniscus), which is the close cousin of chimpanzees (Pan troglodytes), differs from humans to the same degree. The DNA difference with gorillas, another of the African apes, is about 1.6%. Most importantly, chimpanzees, bonobos, and humans all show this same amount of difference from gorillas. A difference of 3.1% distinguishes us and the African apes from the Asian great ape, the orangutan. How do the monkeys stack up? All of the great apes and humans differ from rhesus monkeys, for example, by about 7% in their DNA.

Geneticists have come up with a variety of ways of calculating the percentages, which give different impressions about how similar chimpanzees and humans are. The 1.2% chimp-human distinction, for example, involves a measurement of only substitutions in the base building blocks of those genes that chimpanzees and humans share. A comparison of the entire genome, however, indicates that segments of DNA have also been deleted, duplicated over and over, or inserted from one part of the genome into another. When these differences are counted, there is an additional 4 to 5% distinction between the human and chimpanzee genomes.

No matter how the calculation is done, the big point still holds: humans, chimpanzees, and bonobos are more closely related to one another than either is to gorillas or any other primate. From the perspective of this powerful test of biological kinship, humans are not only related to the great apes we are one. The DNA evidence leaves us with one of the greatest surprises in biology: the wall between human, on the one hand, and ape or animal, on the other, has been breached. The human evolutionary tree is embedded within the great apes.

The strong similarities between humans and the African great apes led Charles Darwin in 1871 to predict that Africa was the likely place where the human lineage branched off from other animals that is, the place where the common ancestor of chimpanzees, humans, and gorillas once lived. The DNA evidence shows an amazing confirmation of this daring prediction. The African great apes, including humans, have a closer kinship bond with one another than the African apes have with orangutans or other primates. Hardly ever has a scientific prediction so bold, so out there for its time, been upheld as the one made in 1871 that human evolution began in Africa.

The DNA evidence informs this conclusion, and the fossils do, too. Even though Europe and Asia were scoured for early human fossils long before Africa was even thought of, ongoing fossil discoveries confirm that the first 4 million years or so of human evolutionary history took place exclusively on the African continent. It is there that the search continues for fossils at or near the branching point of the chimpanzee and human lineages from our last common ancestor.

Due to billions of years of evolution, humans share genes with all living organisms. The percentage of genes or DNA that organisms share records their similarities. We share more genes with organisms that are more closely related to us.

Humans belong to the biological group known as Primates, and are classified with the great apes, one of the major groups of the primate evolutionary tree. Besides similarities in anatomy and behavior, our close biological kinship with other primate species is indicated by DNA evidence. It confirms that our closest living biological relatives are chimpanzees and bonobos, with whom we share many traits. But we did not evolve directly from any primates living today.

DNA also shows that our species and chimpanzees diverged from a common ancestor species that lived between 8 and 6 million years ago. The last common ancestor of monkeys and apes lived about 25 million years ago.

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Genetics | The Smithsonian Institution’s Human Origins Program

Human Genetics

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It has been a long time since Human Genetics got introduced to mankind. One can definitely think of it as a great achievement in the entire history of humans. It is the alteration of genes in a human being for making him or her resistant to different kind of diseases that can prove deadly, because Read more

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Major area for human genetic engineering debate revolves around the ethics involved in testing of genetics. Other areas for debate include selective eugenics as well as genetic discrimination. Apart from the above debates, the scientists have now been found busy on making debates on some other frightening prospects of human genetic engineering. Human genetic engineering Read more

POST

Human genetics research is a revolutionary change in the field of medical science. It has made several advances in this field. It entered this field many years ago when Hippocrates discovered nature laws can easily describe the body workings. This revolution identified that contaminated water is a primary reason that leads to a disease like Read more

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Many human genetic engineering pros and cons are there that have stayed the same since its introduction to humanity. When the humans started harnessing the atomic powers, then just few years later they also start recognizing the effects of human genetic engineering on mankind. Many scientists have a belief that gene therapy can be a Read more

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A primary debate topic among the people from western civilization is the effects of human cloning and genetic engineering. This topic has given place to a lot of controversies in that civilization. It is an asexual reproduction using genetic engineering. There is a huge relation between human cloning and genetic engineering. In fact, cloning cannot Read more

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Names of a lot of scientists come to notice whenever there are talks about Human Genetic Engineering Facts. Two scientists namely Stanley Cohen and Herbert Boyer discovered a technique for cloning using DNA. These two have contributed a lot in Human Genetic Engineering studies. This stage was the discovery of science for historians. It was Read more

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Human Genetic Engineering History goes back to the 1919 when an engineer from Hungary gave a term biotechnology to products developed by using raw materials. The engineer made use of this term in its best possible sense. Civilizations in the ancient times discovered that a lot of products can be made by using micro-organisms. However, Read more

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Many scientists and researchers have been involved in evolving the Human Genetic Engineering Concepts And Applications. Alleles of different kinds have an advantage of surviving in changing environments. This is only due to the natural selection. However, these natural selections can be reflected with the infectious disease cycles of virulence and prevalence. A question always Read more

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Many Human Genetic Engineering Cons are there that can stop a person from getting through the entire gene therapy. It is a process in which there is a modification or change in the genes of a human. The aim or objective of using Human Genetic Engineering is to choose newborn phenotype or to change or Read more

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Some people can think of Human Genetic Engineering as a thing that makes them live a healthier life for a long time. People can think of it as a something straight from the heaven or a programmed human being. Genetic engineering is a concept that can be used for enhancing the life of human beings. Read more

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Human Genetic Engineering is the most talked about thing in the recent few years. It can be heard in government legislative or in any executive government department. By the passing time, people will have an idea what will be the decision of the government regarding the use of Human Genetic Engineering and human cloning. However, Read more

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Human Genetics

Using Genetics to Uncover Human History – JD Supra (press release)

Human history is often something modern man only sees as through a glass, darkly. This is particularly the case when that history did not occur in the Mediterranean, the Nile Valley, India, or China, or when there is no written record on which scholars can rely. Exacerbating the disrupting effects of time on history can be when that history occurs in a region where extensive migration has disrupted whatever temporarily stable civilization happened to have taken root at that place at any particular time.

But humans leave traces of themselves in their history and a variety of such traces have been the source of reconstructions outside conventional sources. Luigi Cavalli-Sforza began the study of human population genetics as a way to understand this history in 1971 in The Genetics of Human Populations, and later extended these studies to include language and how it influences gene flow between human populations. More recent efforts to use genetics to reconstruct history include Deep Ancestry: The Landmark DNA Quest to Decipher Our Distant Past by Spencer Wells (National Geographic: 2006), and The Seven Daughters of Eve: The Science that Reveals our Genetic Ancestry by Brian Sykes (Carrol & Graf: 2002). And even more recently, genetic studies have illuminated the “fine structure” of human populations in England (see “Fine-structure Genetic Mapping of Human Population in Britain”).

Two recent reports illustrate how genetics can inform history: the first, in the American Journal of Human Genetics entitled “Continuity and Admixture in the Last Five Millennia of Levantine History from Ancient Canaanite and Present-Day Lebanese Genome Sequences”; and a second in the Proceedings of the National Academy of Sciences USA, entitled “Genomic landscape of human diversity across Madagascar.” In the first study, authors* from The Wellcome Trust Sanger Institute, University of Cambridge, University of Zurich, University of Otago, Bournemouth University, Lebanese American University, and Harvard University found evidence of genetic admixture over 5,000 years of a Canaanite population that has persisted in Lebanese populations into the modern era. This population is interesting for historians in view of the central location of the ancestral home of the Canaanites, the Levant, in the Fertile Crescent that ran from Egypt through Mesopotamia. The Canaanites also inhabited the Levant during the Bronze Age and provide a critical link between the Neolithic transition from hunter gatherer societies to agriculture. This group (known to the ancient Greeks as the Phoenicians) is also a link to the great early societies recognized through their historical writings and civilizations (including the Egyptians, Assyrians, Babylonians, Persians, Greeks, and Romans); if the Canaanites had any such texts or other writings they have not survived. In addition, the type of genetic analyses that have been done for European populations has not been done for descendants of inhabitants of the Levant from this historical period. This paper uses genetic comparisons between 99 modern day residents of Lebanon (specifically, from Sidon and the Lebanese interior) and ancient DNA (aDNA) from ~3,700 year old genomes from petrous bone of individuals interred in gravesites in Sidon. For aDNA, these analyses yielded 0.4-2.3-fold genomic DNA coverage and 53-264-fold mitochondrial DNA coverage, and also compared Y chromosome sequences with present-day Lebanese, two Canaanite males and samples from the 1000 Genomes Project. Over one million single nucleotide polymorphisms (SNPs) were used for comparison.

These results indicated that the Canaanite ancestry was an admixture of local Neolithic populations and migrants from Chalcolithic (Copper Age) Iran. The authors estimate from these linkage disequilibrium studies that this admixture occurred between 6,600 and 3,550 years ago, a date that is consistent with recorded mass migrations in the region during that time. Perhaps surprisingly, their results also show that the majority of the present-day Lebanese population has inherited most of their genomic DNA from these Canaanite ancestors. These researchers also found traces of Eurasian ancestry consistent with conquests by outside populations during the period from 3,750-2,170 years ago, as well as the expansion of Phoenician maritime trade network that extended during historical time to the Iberian Peninsula.

The second paper arose from genetic studies of an Asian/African admixture population on Mozambique. This group** from the University of Toulouse, INSERM, the University of Bordeaux, University of Indonesia, the Max Plank Institute for Evolutionary Anthropology, Institut genomique, Centre Nacional de Genotypage, University of Melbourne, and the Universite de la Rochelle, showed geographic stratification between ancestral African (mostly Bantu) and Asian (Austronesean) ancestors. Cultural, historical, linguistic, ethnographic, archeological, and genetic studies supports the conclusion that Madagascar residents have traits from both populations but the effects of settlement history are termed “contentious” by these authors. Various competing putative “founder” populations (including Arabic, Indian, Papuan, and/or Jewish populations as well as first settlers found only in legend, under names like “Vazimba,” “Kimosy,” and “Gola”) have been posited as initial settlers. These researchers report an attempt to illuminate the ancestry of the Malagasy by a study of human genetics.

These results showed common Bantu and Austronesian descent for the population with what the authors termed “limited” paternal contributions from Europe and Middle Eastern populations. The admixture of African and Austronesian populations occurred “recently” (i.e., over the past millennium) but was gender-biased and heterogeneous, which reflected for these researchers independent colonization by the two groups. The results also indicated that detectable genetic structure can be imposed on human populations over a relatively brief time (~ a few centuries).

Using a “grid-based approach” the researchers performed a high-resolution genetic diversity study that included maternal and paternal lineages as well as genome-wide data from 257 villages and over 2,700 Malagasy individuals. Maternal inheritance patterns were interrogated using mitochondrial DNA and patterns of paternity assayed using Y chromosomal sequences. Non-gender specific relationships were assessed through 2.5 million SNPs. Mitochondrial DNA analyses showed maternal inheritance from either African or East Asian origins (with one unique Madagascar variant termed M23) in roughly equal amounts, with no evidence of maternal gene flow from Europe or the Middle East. The M23 variant shows evidence of recent (within 900-1500 years) origin. Y chromosomal sequences, in contrast are much more prevalent from African origins (70.7% Africa:20.7% East Asia); the authors hypothesize that the remainder may reflect Muslim influences, with evidence of but little European ancestry.

Admixture assessments support Southeast Asian (Indonesian) and East African source populations for the Malagasy admixture. These results provide the frequency of the African component to be ~59%, the Asian component frequency to be ~37%, and the Western European component to have a frequency of about 4% (albeit with considerable variation, e.g., African ancestry can range from ~26% to almost 93%). Similar results were obtained when the frequency of chromosomal fragments shared with other populations were compared to the Malagasy population (finding the closest link to Asian populations from south Borneo, and excluding Indian, Somali, and Ethiopian populations, although the analysis was sensitive in one individual to detect French Basque ancestry). The split with ancestral Asian populations either occurred ~2,500 years ago or by slower divergence between ~2,000-3,000 years ago, while divergence with Bantu populations occurred more recently (~1,500 years ago).

There were also significant differences in geographic distribution between descendants of these ancestral populations. Maternal African lineages were found predominantly in north Madagascar, with material Asian lineages found in central and southern Madagascar (from mtDNA analyses). Paternal lineages were generally much lower overall for Asian descendants (~30% in central Madagascar) based on Y chromosome analyses. Genome-wide analyses showed “highlanders” had predominantly Asian ancestry (~65%) while coastal inhabitants had predominantly (~65%) African ancestry; these results depended greatly on the method of performing the analyses which affected the granularity of the geographic correlates. Finally, assessing admixture patterns indicated that the genetic results are consistent with single intermixing event (500-900 years ago) for all but one geographic area, which may have seen a first event 28 generations ago and a second one only 4 generations ago. These researchers also found evidence of at least one population bottleneck, where the number of individuals dropped to a few hundred people about 1,000-800 years ago.

These results are represented pictorially in the paper:

In view of the current political climate, the eloquent opening of the paper deserves attention:

Ancient long-distance voyaging between continents stimulates the imagination, raises questions about the circumstances surrounding such voyages, and reminds us that globalization is not a recent phenomenon. Moreover, populations which thereby come into contact can exchange genes, goods, ideas and technologies.

* Marc Haber, Claude Doumet-Serhal, Christiana Scheib, Yali Xue, Petr Danecek, Massimo Mezzavilla, Sonia Youhanna, Rui Martiniano, Javier Prado-Martinez, Micha Szpak, Elizabeth Matisoo-Smith, Holger Schutkowski, Richard Mikulski, Pierre Zalloua, Toomas Kivisild, Chris Tyler-Smith

** Denis Pierrona, Margit Heiskea, Harilanto Razafindrazakaa, Ignace Rakotob, Nelly Rabetokotanyb, Bodo Ravololomangab, Lucien M.-A. Rakotozafyb, Mireille Mialy Rakotomalalab, Michel Razafiarivonyb, Bako Rasoarifetrab, Miakabola Andriamampianina Raharijesyb, Lolona Razafindralambob, Ramilisoninab, Fulgence Fanonyb, Sendra Lejamblec, Olivier Thomasc, Ahmed Mohamed Abdallahc, Christophe Rocherc,, Amal Arachichec, Laure Tonasoa, Veronica Pereda-lotha, Stphanie Schiavinatoa, Nicolas Brucatoa, Francois-Xavier Ricauta, Pradiptajati Kusumaa,d,e, Herawati Sudoyod,e, Shengyu Nif, Anne Bolandg, Jean-Francois Deleuzeg, Philippe Beaujardh, Philippe Grangei, Sander Adelaarj, Mark Stonekingf, Jean-Aim Rakotoarisoab, Chantal Radimilahy, and Thierry Letelliera

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Using Genetics to Uncover Human History – JD Supra (press release)

Test reveals possible treatments for disorders involving MeCP2 – Baylor College of Medicine News (press release)

The first step consisted of genetically modifying a laboratory cell line in which the researchers could monitor the levels of fluorescent MeCP2 as they inhibited molecules that might be involved in its regulation. First author Dr. Laura Lombardi, a postdoctoral researcher in the Zoghbi lab at the Howard Hughes Medical Institute, developed this cell line and then used it to systematically inhibit one by one the nearly 900 kinase and phosphatase genes whose activity could be potentially inhibited with drugs.

We wanted to determine which ones of those hundreds of genes would reduce the level of MeCP2 when inhibited, Lombardi said. If we found one whose inhibition would result in a reduction of MeCP2 levels, then we would look for a drug that we could use.

The researchers identified four genes than when inhibited lowered MeCP2 level. Then, Lombardi and her colleagues moved on to the next step, testing how reduction of one or more of these genes would affect MeCP2 levels in mice. They showed that mice lacking the gene for the kinase HIPK2 or having reduced phosphatase PP2A had decreased levels of MeCP2 in the brain.

These results gave us the proof of principle that it is possible to go from screening in a cell line to find something that would work in the brain, Lombardi said.

Most interestingly, treating animal models of MECP2 duplication syndrome with drugs that inhibit phosphatase PP2A was sufficient to partially rescue some of the motor abnormalities in the mouse model of the disease.

This strategy would allow us to find more regulators of MeCP2, Zoghbi said. We cannot rely on just one. If we have several to choose from, we can select the best and safest ones to move to the clinic.

Beyond MeCP2, there are many other genes that cause a medical condition because they are either duplicated or decreased. The strategy Zoghbi and her colleagues used here also can be applied to these other conditions to try to restore the normal levels of the affected proteins and possibly reduce or eliminate the symptoms.

Other contributors to this work include Manar Zaghlula, Yehezkel Sztainberg, Steven A. Baker, Tiemo J. Klisch, Amy A. Tang and Eric J. Huang.

This project was funded by the National Institutes of Health (5R01NS057819), the Rett Syndrome Research Trust and 401K Project from MECP2 duplication syndrome families, and the Howard Hughes Medical Institute. This work also was made possible by the following Baylor College of Medicine core facilities: Cell-Based Assay Screening Service (NIH, P30 CA125123), Cytometry and Cell Sorting Core (National Institute of Allergy and Infectious Diseases, P30AI036211; National Cancer Institute P30CA125123; and National Center for Research Resources, S10RR024574), Pathway Discovery Proteomics Core, the DNA Sequencing and Gene Vector Core (Diabetes and Endocrinology Research Center, DK079638), and the mouse behavioral core of the Intellectual and Developmental Disabilities Research Center (NIH, U54 HD083092 from the National Institute of Child Health and Human Development).

The full study can be found inScience Translational Medicine.

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Test reveals possible treatments for disorders involving MeCP2 – Baylor College of Medicine News (press release)

Web Extras – LWW Journals (blog)

BY LISA COLLIER COOL

Vincent Van Gogh ranks as one of the most brilliantand prolificartists of all time, painting hundreds of masterpieces ablaze with vivid colors, bold brushstrokes, and swirling coronas. He also experienced seizures, hallucinations, and other symptoms throughout his short life that many historians, his own doctors, and Van Gogh himself attributed to a neurologic disease: epilepsy.

Other famous artists, including Willem de Kooning, who developed Alzheimer’s disease, created masterful works of enduring genius while living with neurologic conditions. More recently, Chuck Close, an American painter and photographer, has talked about how his various neurologic conditions both enhance and limit his artistic output (bit.ly/NN-ChuckClose).

We spoke with John McNeil, a jazz trumpeter, to find out how a diagnosis of Charcot-Marie-Tooth disease in childhood influenced his career.

A trumpet player and bandleader who has performed with many of the greats of the music world and recorded more than a dozen critically acclaimed albums, John McNeil has been called “one of the best improvisers working in jazz” by Ben Ratliff, music critic for the New York Times. What makes his success particularly remarkable is that McNeil, 69, has a neurologic disorder that affects his breathing, facial muscles, and finger control, all of which are essential for his art.

Born Different

McNeil was born with Charcot-Marie-Tooth disease (CMT), an inherited condition that affects about one in 2,500 Americans. Named after the three doctors who discovered it, CMT damages peripheral nerves, disrupting signals from the brain to muscles, much like static on a phone line. Over time, this causes muscles to weaken and start to shrink, says Stephan Zchner, MD, PhD, professor of human genetics and neurology, chair of the department of human genetics, and co-director of the John P. Hussman Institute for Human Genomics at University of Miami Health System. “Often CMT symptoms begin in the feet, which have the longest nerves, while the hands and other parts of the body can be affected later in the disease.”

In McNeil’s case, the symptoms started in childhood. “By age 3, I had trouble with motor skills, and I was falling a lot because my feet had started to deform from the disease,” he recalls. This common early symptom often causes people to develop very high arches that impair walking because of weakness in foot muscles. “By the time I was 11, my spine started to get twisted, and I had to wear braces on my legs and body,” he adds.

A Sudden Inspiration

When he was 10, McNeil saw a TV show that sparked a lifelong passion. “I watched Louis Armstrong playing the trumpet on a variety show and thought, ‘Man, that looks like fun!’ I bugged my parents to get me a trumpet, and I’m pretty sure the only reason they agreed was that they’d been told my disease was progressing so fast I might not live past age 13 or 14. Not only did they get me a trumpet, but they also gave me a bunch of Louis Armstrong records that I used to teach myself how to play.”

CMT is rarely fatal, says Dr. Zchner. “There are a few extreme cases when patients die at an early age while other people have very mild problems that may not start until they are middle-aged. There are more than 100 subtypes of CMT, and it’s very difficult to predict how an individual patient will be affected except that people typically start with a few symptoms and over time, develop more.”

Remission

At first, muscle and coordination problems made playing the trumpet difficult for McNeil, but he persisted. Then at age 16, he had a dramatic health turnaround. “The disease suddenly stopped progressing. I worked out every day, and my strength exploded. Within a year, I gained nearly 50 pounds of muscle and felt great.” Soon the Yreka, CA, native had more good news to trumpet. He’d become so skilled at playing his instrument that he was invited to play first chair in the Northern California All-Star Concert Band. By the time he graduated from high school, he was playing jazz trumpet professionally.

Relapse

In the 1970s, after getting a degree in music and playing professionally around the country, he moved to New York City and began working as a freelance musician. He also began playing jazz and eventually started recording albums and touring internationally with his band. Then his disease flared up. “I started stumbling, sometimes with no warning, and dropping things. I couldn’t get enough air out. Once, in the middle of recording a live album, I had trouble getting air out. I played so poorly that I begged the record company not to release it.”

After several years and through sheer determination, he staged a comeback, only to be hit with an even more devastating setback. “I got my band on the road and then this disease really whacked me. I lost control of my right hand and couldn’t move my fingers well enough to play the trumpet.” Refusing to give up, McNeil spent the next yearand more than 1,000 hours of practiceteaching himself to play left-handed, then formed a new band called Lefty.

A Clinical Trial

However, he continued to struggle with CMT symptoms and, despite daily workouts at the gym, became increasingly frail and disabled. “I was having so much trouble walking that the doctor said I needed a wheelchair. I said no and looked around for somethinganythingthat might help.” He enrolled in a small clinical study of human growth hormone, a drug approved by the US Food and Drug Administration (FDA) for certain medical conditions, but not CMT. “Within three months, I threw my cane away,” McNeil says.

He was eventually able to resume playing the trumpet right-handed, aided by custom finger braces. “When I was playing left-handed, my style and musical phrasing became more economical since I couldn’t rely on music memory and was learning to play all over again. When I switched back to playing right-handed, I found I carried some of this increased clarity with memaking me a much better player,” he recalls. “The improvement was amazing!”

“It’s extremely unusual for someone with CMT to regain any lost function,” says Dr. Zchner. “However, since there’s no FDA-approved treatment for this disease, if patients find any therapy they consider helpful and it isn’t causing any major side effects, then I wouldn’t tell them to stop using it. Exercise, such as swimming or biking, is generally advised, not to reverse the disease, but to make the body more resilient to the loss of muscular strength.” Patients with CMT should also ask their neurologists about clinical trials of new treatments, he adds. “Some very promising research programs from the Charcot-Marie-Tooth Association (cmtausa.org) are expected to lead to clinical trials in the near future.”

Winning Battle

Although CMT has repeatedly interrupted McNeil’s career, often for years at a time, and he continues to battle a wide range of complications, including joint problems, lung infections, and chronic shortness of breath, he’s now in a band called Hush Point and performs regularly at New York City clubs with a group of much younger musicians. “Without CMT, I wouldn’t be the musician I am today,” he says.

“Because I’ve had to work so hard on my body and concentration to continue playing at a professional level, I find I’ve become more perceptive musically: I have to completely see, feel, and hear what each note is going to sound like before I play it. While it’s a continuing battle to stay at this level, I’m determined to keep fighting this disease. Every time I go out on stage, pick up my trumpet, and start improvising, I’ve won.”

To learn more about John McNeil and his music, go to McNeilJazz.com. To listen to a clip of McNeil playing a traditional Scottish folk song called “The Water Is Wide,” by an unknown composer, click on the box below. To order the full CD, Sleep Won’t Come, go tobit.ly/SleepWontCome. For interviews of artists with other neurologic conditions, go to bit.ly/NN-TheArtOfIllness.

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Web Extras – LWW Journals (blog)

To Protect Genetic Privacy, Encrypt Your DNA – WIRED

In 2007, DNA pioneer James Watson became the first person to have his entire genome sequencedmaking all of his 6 billion base pairs publicly available for research. Well, almost all of them. He left one spot blank, on the long arm of chromosome 19, where a gene called APOE lives. Certain variations in APOE increase your chances of developing Alzheimers, and Watson wanted to keep that information private.

Except it wasnt. Researchers quickly pointed out you could predict Watsons APOE variant based on signatures in the surrounding DNA. They didnt actually do it, but database managers wasted no time in redacting another two million base pairs surrounding the APOE gene.

This is the dilemma at the heart of precision medicine: It requires people to give up some of their privacy in service of the greater scientific good. To completely eliminate the risk of outing an individual based on their DNA records, youd have to strip it of the same identifying details that make it scientifically useful. But now, computer scientists and mathematicians are working toward an alternative solution. Instead of stripping genomic data, theyre encrypting it.

Gill Bejerano leads a developmental biology lab at Stanford that investigates the genetic roots of human disease. In 2013, when he realized he needed more genomic data, his lab joined Stanford Hospitals Pediatrics Departmentan arduous process that required extensive vetting and training of all his staff and equipment. This is how most institutions solve the privacy perils of data sharing. They limit who can access all the genomes in their possession to a trusted few, and only share obfuscated summary statistics more widely.

So when Bejerano found himself sitting in on a faculty talk given by Dan Boneh, head of the applied cryptography group at Stanford, he was struck with an idea. He scribbled down a mathematical formula for one of the genetic computations he uses often in his work. Afterward, he approached Boneh and showed it to him. Could you compute these outputs without knowing the inputs? he asked. Sure, said Boneh.

Last week, Bejerano and Boneh published a paper in Science that did just that. Using a cryptographic genome cloaking method, the scientists were able to do things like identify responsible mutations in groups of patients with rare diseases and compare groups of patients at two medical centers to find shared mutations associated with shared symptoms, all while keeping 97 percent of each participants unique genetic information completely hidden. They accomplished this by converting variations in each genome into a linear series of values. That allowed them to conduct any analyses they needed while only revealing genes relevant to that particular investigation.

Just like programs have bugs, people have bugs, says Bejerano. Finding disease-causing genetic traits is a lot like spotting flaws in computer code. You have to compare code that works to code that doesnt. But genetic data is much more sensitive, and people (rightly) worry that it might be used against them by insurers, or even stolen by hackers. If a patient held the cryptographic key to their data, they could get a valuable medical diagnosis while not exposing the rest of their genome to outside threats. You can make rules about not discriminating on the basis of genetics, or you can provide technology where you cant discriminate against people even if you wanted to, says Bejerano. Thats a much stronger statement.

The National Institutes of Health have been working toward such a technology since reidentification researchers first began connecting the dots in anonymous genomics data. In 2010, the agency founded a national center for Integrating Data for Analysis, Anonymization and Sharing housed on the campus of UC San Diego. And since 2015, iDash has been funding annual competitions to develop privacy-preserving genomics protocols. Another promising approach iDash has supported is something called fully homomorphic encryption, which allows users to run any computation they want on totally encrypted data without losing years of computing time.

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Kristen Lauter, head of cryptography research at Microsoft, focuses on this form of encryption, and her team has taken home the iDash prize two years running. Critically, the method encodes the data in such a way that scientists dont lose the flexibility to perform medically useful genetic tests. Unlike previous encryption schemes, Lauters tool preserves the underlying mathematical structure of the data. That allows computers to do the math that delivers genetic diagnoses, for example, on totally encrypted data. Scientists get a key to decode the final results, but they never see the source.

This is extra important as more and more genetic data moves off local servers and into the cloud. The NIH lets users download human genomic data from its repositories, and in 2014, the agency started letting people store and analyze that data in private or commercial cloud environments. But under NIHs policy, its the scientists using the datanot the cloud service providerresponsible with ensuring its security. Cloud providers can get hacked, or subpoenaed by law enforcement, something researchers have no control over. That is, unless theres a viable encryption for data stored in the cloud.

If we dont think about it now, in five to 10 years a lot peoples genomic information will be used in ways they did not intend, says Lauter. But encryption is a funny technology to work with, she says. One that requires building trust between researchers and consumers. You can propose any crazy encryption you want and say its secure. Why should anyone believe you?

Thats where federal review comes in. In July, Lauters group, along with researchers from IBM and academic institutions around the world launched a process to standardize homomorphic encryption protocols. The National Institute for Standards and Technology will now begin reviewing draft standards and collecting public comments. If all goes well, genomics researchers and privacy advocates might finally have something they can agree on.

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To Protect Genetic Privacy, Encrypt Your DNA – WIRED

UCLA Human Genetics

The Department of Human Genetics is the youngest basic science department in the Geffen School of Medicine at UCLA. When the Department was launched just prior to the sequencing of the human genome, it was clear that the practice of genetics research would be forever changed by the infusion of massive amounts of new data. Organizing and making sense of this genomic data is one of the greatest scientific challenges ever faced by mankind. The knowledge generated will ultimately transform medicine through patient-specific treatments and prevention strategies.

The Department is dedicated to turning the mountains of raw genetic data into a detailed understanding of the molecular pathogenesis of human disease. The key to such understanding is the realization that genes not only code for specific proteins, but they also control the temporal development and maturation of every living organism through a complex web of interactions.

Housed in the new Gonda Research Center, the Department serves as a focal point for genetics research on the UCLA campus, with state of the art facilities for gene expression, sequencing, genotyping, and bioinformatics. In addition to its research mission, the Department offers many exciting training opportunities for graduate students, postdoctoral fellows, and medical residents. Our faculty and staff welcome inquiries from prospective students. We also hope that a quick look at our web pages will give you a better idea of the Department’s research and educational activities.

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