Posts Tagged ‘DNA sequencing platform’

Previously unknown human population boom revealed by DNA: Massive expansion occurred 40,000 years ago

  • Scientists guess that baby boom occurred as our ancestors adapted to life away from the coasts

By Damien Gayle

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DNA sequencing has revealed a previously unknown human population boom between 40,000 and 50,000 years ago, a new study claims.

The sequencing of the Y chromosomes from 36 men has revealed a ten-fold increase in the number of genetic markers nearly 20,000 years after our ancestors first left Africa.

Scientists believe the expansion could have occurred as our ancestors adapted to more rugged environments, allowing them to spread inland from coastal areas.

Baby boom: New analysis of DNA has revealed a previously unknown human population boom between 40,000 and 50,000 years ago

Baby boom: New analysis of DNA has revealed a previously unknown human population explosion between 40,000 and 50,000 years ago

‘We have always considered the expansion of humans out of Africa as being the largest population expansion of modern humans, but our research questions this theory,’ said Wei Wei of the West China University of Medical Sciences.

‘The out-of-Africa expansion, which happened approximately 60,000 years ago, was extremely large in geographical terms with humans spreading around the globe.

‘Now we’ve found a second wave of expansion that is much larger in terms of human population growth and occurred over a very short period, somewhere between 40,000 to 50,000 years ago.’

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1 comment - What do you think?  Posted by admin - February 19, 2013 at 1:18 am

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DNA map offers hope on cancer treatments

Cancer will become a manageable disease rather than a death sentence thanks to a revolutionary treatment which will be available within five years, British specialists predict.Out of control: biologists still cannot explain why cancerous cells will proliferate and spread to other organs if unchecked

All patients will soon have their tumour’s DNA, its genetic code, sequenced, enabling doctors to ensure they give exactly the right drugs to keep the disease at bay.

Doctors hope it will be an important step towards transforming some types of cancer into a chronic rather than fatal disease.

The technique could enable terminally ill patients, who can currently expect to live only months, to carry on for a decade or more in relatively good health, according to specialists at the Institute of Cancer Research in London.

“We should be aspiring to cure cancer, but for people with advanced disease, it will be a question of managing them better so they survive for much longer – for many years,” said Prof Alan Ashworth, chief executive of the institute.

“Cancer often appears in people who are old, and if we can keep them alive long enough for them to die of something else, then we are turning cancer into a chronic disease.”

Prof Ashworth said that understanding of how different cancers were caused by different genetic triggers was building “incredibly rapidly”.

Genetic profiling of tumours is already used to some extent, but current methods only look for a few genes. Women with advanced breast cancer are tested to see if their tumours have a particular variant of the HER2 gene, which causes a fifth of cases. Those with it are given Herceptin, but the same drug would do no good for those without the gene variant.

Advanced melanoma patients with a particular gene mutation are prescribed Vemurafenib, a pill that has been shown to increase survival, on average, from 9.6 to 13.2 months, and help patients feel much more energetic.

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Be the first to comment - What do you think?  Posted by admin - January 28, 2013 at 11:41 pm

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‘Adventurous’ Woman Needed as Surrogate for Neanderthal Baby

'Adventurous' Woman Needed as Surrogate for Neanderthal Baby

‘Adventurous’ Woman Needed as Surrogate for Neanderthal Baby

Are you an adventurous human woman? Adventurous enough to be a surrogate mother for the first Neanderthal baby to be born in 30,000 years?

Harvard geneticist George Church recently told Der Spiegel he’s close to developing the necessary technology to clone a Neanderthal, at which point all he’d need is an “adventurous human woman” — einen abenteuerlustigen weiblichen Menschen — to act as a surrogate mother.

It’s not out of the question at all. As MIT Technology Review‘s Susan Young points out, scientists cloned an extinct subspecies of ibex in 2009. It died immediately, sure. But they still cloned it.

What would that entail? According to a 2008 study of a Neanderthal infant skeleton (from which the above image is taken), “the head of the Neanderthal newborn was somewhat longer than that of a human newborn because of its relatively robust face,” and Neanderthal women generally had a wider birth canal than human women. Neanderthal birth was simpler than human birth, because Neanderthal infants didn’t have to rotate to get to the birth canal, but otherwise the processes were very similar. (Even so, I imagine all but the most adventurous of human women would opt for a C-section in this case.)

Once the baby’s out, though, you’re in good shape — Neanderthal babies are thought to have grown much more quickly than their human counterparts. And Church seems to think that there’ll be a Neanderthal craze, as he told Bloomberg Businessweek last year:

“We have lots of Neanderthal parts around the lab. We are creating Neanderthal cells. Let’s say someone has a healthy, normal Neanderthal baby. Well, then, everyone will want to have a Neanderthal kid. Were they superstrong or supersmart? Who knows? But there’s one way to find out.”

[Der Spiegel via MIT Technology Review]

44 comments - What do you think?  Posted by admin - January 19, 2013 at 6:15 pm

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The Human Genome and how it works

 

A colossal international effort has yielded the first comprehensive look at how our DNA works, an encyclopedia of information that will rewrite the textbooks and offer new insights into the biology of disease. For one thing, it may help explain why some people are more prone to common ailments such as high blood pressure and heart disease.

 

The findings, reported Wednesday by more than 500 scientists, reveal extraordinarily complex networks that tell our genes what to do and when, with millions of on-off switches. “It’s this incredible choreography going on, of a modest number of genes and an immense number of … switches that are choreographing how those genes are used,” said Dr. Eric Green, director of the National Human Genome Research Institute, which organized the project.

The work also shows that at least 80 percent of the human genetic code, or genome, is active. That’s surprisingly high and a sharp contrast to the idea that the vast majority of our DNA is junk.

Most people know that DNA contains genes, which hold the instructions for life. But scientists have long known those genetic blueprints take up only about 2 percent of the genome, and their understanding of what’s going on in the rest has been murky.

Similarly, they have known that the genome contains regulators that control the activity of genes, so that one set of genes is active in a liver cell and another set in a brain cell, for example. But the new work shows how that happens on a broad scale.

It’s “our first global view of how the genome functions,” sort of a Google Maps that allows both bird’s-eye and close-up views of what’s going on, said Elise Feingold of the genome institute.

While scientists already knew the detailed chemical makeup of the genome, “we didn’t really know how to read it,” she said in an interview. “It didn’t come with an instruction manual to figure out how the DNA actually works.”

Ewan Birney of the European Molecular Biology Laboratory in Hinxton, England, compared the new work to a first translation of a very long book. “The big surprise is just how much activity there is,” he said. “It’s a jungle.”

The trove of findings was released in 30 papers published by three scientific journals, while related papers appear in some other journals. In all, the 30 papers involved more than 500 authors. The project is called ENCODE, for Encyclopedia of DNA Elements.

The human genome is made up of about 3 billion “letters” along strands that make up the familiar double helix structure of DNA. Particular sequences of these letters form genes, which tell cells how to make proteins. People have about 20,000 genes, but the vast majority of DNA lies outside of genes.

So what is it doing? In recent years, scientists have uncovered uses for some of that DNA, so it was clearly not all junk, but overall it has remained a mystery.

Scientists found that at least three-quarters of the genome is involved in making RNA, a chemical cousin of DNA. Within genes, making RNA is a first step toward creating a protein, but that’s not how it’s used across most of the genome. Instead, it appears to help regulate gene activity.
Scientists also mapped more than 4 million sites where proteins bind to DNA to regulate genetic function, sort of like a switch. “We are finding way more switches than we were expecting,” Birney said.
The discovery of so many switches may help scientists in their search for the biology of disease, particularly common conditions such as high blood pressure, heart disease and asthma, scientists said.

Studies have found that DNA variations that predispose people to such common disease often lie outside the genes, raising the question of how they could have any effect. The new work finds evidence that many of these variations fall within or near regulatory regions identified by the ENCODE project, suggesting a way they could meddle with gene activity.

 

SOURCE:  Associated Press, Thursday, September 6, 2012

Be the first to comment - What do you think?  Posted by admin - December 7, 2012 at 5:55 am

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Human Genome Debate: SCOTUS to Decide Who Owns Your Genes

The Supreme Court announced Friday it will hear arguments in a case challenging patents on genes that possibly cause breast and ovarian cancer.

The genes, BRCA1 and BRCA2, have been associated with hereditary forms of breast and ovarian cancer. The plaintiffs argue that Myriad Genentics’ patent hinders potentially life-saving cancer research and patient access to diagnostic testing. They are also pushing for the courts to recognize genes as “products of nature” and, therefore, unpatentable.

Conversely, Myriad argues that they do not own the patent on the gene itself; rather, they own the patent on the process for isolating the gene. The company also argues that patents on genes create a financial incentive for companies to fund genetic research.

The plaintiffs include genetic counselors and researchers, patients, cancer and women’s health organizations, and medical professional organizations.

Lisbeth Ceriani, a breast cancer survivor and plaintiff in the case, had to pay Myriad over $4,000 to receive genetic testing to see if her breast cancer was hereditary. “Women should not have to go through what I went through in order to take care of themselves and continue to take care of their families,” said Ceriani. “My genes belong to me. Knowledge about my own body should not be held hostage by a corporation.”

A federal patent court invalidated the patents in 2010. However, the United States Court of Appeals for the Federal Circuit (CAFC) has upheld the patent twice, even after they were ordered to reconsider their ruling in light of the Supreme Court’s decision in Prometheus Laboratories v. Mayo Collaborative Services, which held that the patenting of certain medical diagnostics was unconstitutional.

“It’s wrong to think that something as naturally occurring as DNA can be patented by a single company that limits scientific research and the free exchange of ideas,” said Chris Hansen, my personal hero, and staff attorney with the ACLU Speech, Privacy and Technology Project . “The Court of Appeals failed to consider the Supreme Court’s most recent ruling on patent law.”

The basis for patent law in the Constitution lies in Article I, Section 8, which says, “Congress has the power…to promote the progress of science and useful arts, by securing for limited times to authors and inventors the exclusive right to their respective writings and discoveries.” Congress has delegated to the federal patent courts the responsibility to implement this power.

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Researchers Claim To Have Sequenced Bigfoot DNA

A genetic researcher is saying that Bigfoot DNA assessments establish that the furry creature actually does exist. Dr. Melba S. Ketchum states she and her staff sequenced about three complete Sasquatch nuclear genomes and concluded the species is a human hybrid — a mosaic of human and novel non-human aspects. Their conclusions have still to go peer evaluation.

A Texas veterinarian says she and fellow genetic scientists have verified the existence of “Bigfoot,”even however their findings have even so to pass peer overview.

Dr. Melba S. Ketchum of Nacogdoches, founder of DNA Diagnostics Inc. in the eastern Texas town of Timpson, said she and her crew expended 5 several years on their research of purported Bigfoot hair and determined they have validated the existence of a hominin hybrid Pertinent Answers/Firms species, the famous creature frequently acknowledged as “Bigfoot” or “Sasquatch,” residing in North The usa.

There have been recurrent-but-unsubstantiated claims of Bigfoot sightings additional than the a long time, which include some grainy film clips.

In a release posted on the company’s Web internet site Saturday, the scientists say their DNA sequencing suggests the animal is a human relative that created about 15,000 several years back as a hybrid cross of present day Homo sapiens with an not known primate species.

Ketchum mentioned her team has sequenced three whole Sasquatch nuclear genomes and concluded the species is a human hybrid.

“Our examine has sequenced 20 comprehensive mitochondrial genomes and utilized up coming generation sequencing to obtain a few whole nuclear genomes from purported Sasquatch samples,” she claimed in the release. “The genome sequencing shows that Sasquatch mtDNA is identical to present day working day Homo sapiens, but Sasquatch nuDNA is a novel, mysterious hominin suitable to Homo sapiens and other primate species.

“Our facts Associated Items/Firms point out that the North American Sasquatch is a hybrid species, the final result of males of an unknown hominin species crossing with female Homo sapiens.”

Genetic testing has by now dominated out Homo neanderthalis and the Denisova hominin as contributors to Sasquatch mtDNA or nuDNA, she talked about.

“The male progenitor that contributed the not known sequence to this hybrid is special as its DNA is additional distantly removed from humans than other these days identified hominins like the Denisovan particular person,” Ketchum said.

“Sasquatch nuclear DNA is extremely novel and not at all what we experienced anticipated. Even although it has human nuclear DNA inside its genome, there are also distinctly non-human, non-archaic hominin, and non-ape sequences. We identify it as a mosaic of human and novel non-human sequence.”

She mentioned even far more take a look at is vital to “outstanding characterize and have an understanding of Sasquatch nuclear DNA.”

Ketchum, who describes herself as a veterinarian with 27 numerous a long time realistic experience in genetics investigation, which include forensics, needs general public officers and law enforcement to realize the Sasquatch as an indigenous folks today.

“Genetically, the Sasquatch are a human hybrid with unambiguously modern-day-day human maternal ancestry,” she mentioned. “Government at all quantities have to understand them as an indigenous men and women today and right absent guard their human and constitutional rights in the direction of men and women who would see in their bodily and cultural distinctions a ‘license’ to hunt, entice or get rid of them.”

Be the first to comment - What do you think?  Posted by admin - December 2, 2012 at 6:55 pm

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Bigfoot Does Exist, Claim Scientists

  • DNA tests show “Yeti” hair close to humans
  • But is it all an elaborate hoax?

 

DNA tests on hair found supposedly found in a Siberian may actually prove the existence of the Abominable Snowman. 

Three separate DNA tests of the hair reported it “came from a human-like creature which is not a Homosapien yet is more closely related to man than a monkey”.

Yeti hunters claim Yeti DNA is less than one per cent different to that of a human. But no-one has confirmed that “fact” to date, because no Yeti has ever been found or tested for DNA.

Until now. The DNA tests were carried out at universities in Moscow, St Petersburg at Idaho in the US. It is understood a fourth DNA test is also being carried out in the UK.

What do you think? Is it real? Or just a huge hoax? Tell us below.

“We had ten samples of hair to study, and have concluded that they belong to mammal, but not a human, and not the animals known to the area where they were found, like a bear, or wolf, or goat, or any other animal,” Professor Valentin Sapunov of the Russian State Hydrometeorological Institute said.

“It was a branch of our university in St Petersburg that carried out a DNA test, and the Zoological Institute of Russian Academy of Sciences. The tests were performed by laboratory of electronic microscopy and laboratory of molecular genealogical classification.”

The “Yeti hair” was allegedly found in Siberia’s Azasskaya Cave by Dr Igor Birtsev, Russia’s leading advocate of the existence of the abominable snowman.

But is it all an elaborate hoax? That’s the suggestion the Siberian Times is making this morning after Dr Birtsev strangely played down the findings.

“I doubt that they have indeed managed to carry out a DNA test on Azasskaya Cave hair, and doubt that they found how close the Yeti is to humans by its DNA,” he was quoted as saying.

“It has not been done anywhere in the world. I take it that they’ve worked with electronic microscopes, but have they compared it to other samples? I am not sure. So I am rather sceptical about Valentin Sapunov’s conclusions.”

Could it maybe have something to do with the fact that a major bookmaker is offering 100-1 odds on the existence of a yeti being proven by the end of 2012?

A Paddy Power spokesperson said: “It’s true, at odds of 100/1 we do risk putting a Bigfoot in our mouth if these recent sightings turn out to be genuine.”

And then there’s the fact that the “evidence” just happened to be released on Halloween. Real or not real? You tell us.

Be the first to comment - What do you think?  Posted by admin - November 27, 2012 at 12:56 am

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What is the Human Genome

Here is the definition taken from the Human Genome Project, “A genome is the complete collection of an organism’s genetic material. The human genome is ”"composed of about 20,000 to 25,000 genes located on the 23 pairs of chromosomes in a human cell.

A single human chromosome may contain more than 250 million DNA base pairs, and scientists estimate that the entire human genome consists of about 3 billion base pairs.

In the past eighteen months, scientists discovered more than 100 genetic variations that affect older people, such as: type 2 diabetes, asthma, Alzheimer’s disease, osteoporosis, high blood pressure and heart disease.

Genetic science is moving so fast that people now in their 60′s-80′s will see medical innovations that will touch their lives.

Francis Collins, MD, a leader in the Project, was astounded to see the huge amount of information derived from the genome, particularly in regards to older people.

As an example he cited age-related Macular degeneration, an eye disease troubling almost 2 million, visually impaired Americans. “Using new genomic tools we’ve discovered two genes that account for about 60% of the risk- the rest is smoking. But we were surprised. These genes are involved in inflammation, and everybody was thinking macular degeneration was caused by aging in the back of the eye.”

Macular degeneration tests are now being made using anti-inflammatory drugs, a complete change in the way it was formerly viewed.

Many scientists believe that the Human Genome Project has the potential to revolutionize both therapeutic and preventive medicine by providing insights into the basic biochemical processes that underlie many human diseases.

Be the first to comment - What do you think?  Posted by admin - November 5, 2012 at 4:17 pm

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Complete Genomics

It was once thought that the human genome would never be completely mapped out because it was much too complex. The human genome project found that, while complex, human genomes are not as complex as some very undistinguished creatures such as the roundworm and fruit fly.

Nevertheless the breakthrough was enormous and caused an incredible stir among scientists and researchers worldwide, opening doors to research about humans that had never before been seen.

At the center of the breakthrough was Complete Genomics, a California research facility that caused the stir when it announced in 2009 that it had sequenced its first human genome.  When they had finished it they submitted the data to the National Center for Biotechnology Information and scientists the world over clamored to see it.

Today Complete Genomics is a full-service life-sciences company. The DNA sequencing platform that they developed is used by researchers around the globe to analyze and sequence human genomes using their proprietary and data management software and their informatics.

When a researcher anywhere in the world needs a genome to be sequenced they send it to Complete Genomics for analysis in Mountain View, California. After sequencing the assembled sequences and variant reports are published and sent back to the various researchers who order them.

The proprietary software that Complete Genomics uses is adjusted for the study of human DNA exclusively, and they can provide researchers with genome variation files and also assembled sequences.

Today there are various research papers that have been submitted using the results found at Complete Genomics.  For example, their research was responsible for finding which gene was responsible for Miller Syndrome, a rare craniofacial disorder that had struck 1 member of a family of four.

It’s an amazing time to be alive, to be sure, and Complete Genomics is at the forefront of amazing changes that will soon be taking place that only years ago were hard to even imagine. Their technology will ultimately allow researchers to help find and, possibly, cure many diseases that afflict mankind.

1 comment - What do you think?  Posted by admin - at 4:16 pm

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