Where Will the First Genetically Engineered (CRISPR) Baby be Born?

They are meeting in China; they are meeting in the United Kingdom; and they met in the United States last week. Around the world, scientists are gathering to discuss the promise and perils of editing the genome of a human embryo. Should it be allowed — and if so, under what circumstances?

The meetings have been prompted by an explosion of interest in the powerful technology known as CRISPR/Cas9, which has brought unprecedented ease and precision to genetic engineering. This tool, and others like it, could be used to manipulate the DNA of embryos in a dish to learn about the earliest stages of human development. In theory, genome editing could also be used to 'fix' the mutations responsible for heritable human diseases. If done in embryos, this could prevent such diseases from being passed on.

The prospects have prompted widespread concern and discussion among scientists, ethicists and patients. Fears loom that if genome editing becomes acceptable in the clinic to stave off disease, it will inevitably come to be used to introduce, enhance or eliminate traits for non-medical reasons. Ethicists are concerned that unequal access to such technologies could lead to genetic classism. And targeted changes to a person's genome would be passed on for generations, through the germ line (sperm and eggs), fuelling fears that embryo editing could have lasting, unintended consequences.

link.

Robopocalypse: can we Create new Senses for Human Beings?

Is It Mom or Dad's Fault, ahem, DNA?

A new technique successfully takes on a longstanding challenge in DNA sequencing – determining whether a particular genetic sequence comes from an individual's mother or father. The method, described in a Ludwig Cancer Research study in Nature Biotechnology, promises to accelerate studies of how genes contribute to disease, improve the process of matching donors with organs and help scientists better understand human migration patterns.

"The technique will enable clinicians to better assess a person's individual risk for disease. It is potentially transformative for personalized medicine," says Bing Ren, Ludwig scientist at the University of California, San Diego School of Medicine, who led the research on the new technique, called "HaploSeq."

"Current sequencing technologies are fast and rapidly getting cheaper – an individual's genome can now be sequenced in about a week for $5,000," says Ren. "In the not too distant future, everyone's genome will be sequenced. That will become the standard of care." But, he explains, "There has been a problem with this scenario." Except for the sex chromosomes, everyone has two copies of each chromosome. One copy comes from mom, and the other from dad. Current techniques cannot distinguish between the two copies of each gene and, therefore, are not very good at determining whether particular genetic differences, such as a single-letter change in the DNA, originate with an individual's mother or father – muddying genetic analyses.

Ren's new technique, a mixture of molecular biology and computational biology approaches, bypasses this problem. The method enables researchers to quickly determine which genetic variants occur together on the same stretch of chromosome and, therefore, came from the same parent. "This advance has direct implications for the utility of genomics in clinical practice and will also have profound effects on genetic research and discovery," says Ludwig scientist Siddarth Selvaraj, who contributed to the study with Ren and fellow Ludwig researcher Jesse Dixon.

More immediately, the technique will enable clinicians to better assess a person's individual risk for disease, a cornerstone of personalized medicine. For instance, people at risk for a disease such as cancer often have more than one DNA mutation. HaploSeq could enable clinicians to determine if the two mutations are on the same chromosome or on different chromosomes, which can help in risk assessment – for instance, risk may be reduced if two mutations are on the same chromosome, since the 'good' chromosome can often compensate.

Similarly, the method, with further honing, has the potential to refine the currently cumbersome process of determining whether there is a genetic match between an organ donor and recipient. A large number of genes contribute to compatibility between donor and recipient, but there is a lot of genetic variability in these genes. The new technique could help determine whether DNA differences between donor and recipient are likely to be a good match. "This will require more study," says Ren, "but by creating a DNA database, it may be possible to more accurately and expediently pair recipients and donors."

The new method will also help researchers analyze human migration and determine ancestry from their DNA sequences. "In principal," says Ren, "you could compare your genetic sequence to your neighbor's and ask if you have any recent ancestors in common. With our technique we can study each individual and how they relate to other individuals. As we accumulate data from many individuals we can more precisely determine their relationships." Such findings will also bolster an ongoing international project to assess worldwide human genetic variation, the HapMap project.

link.

23andme's Patent: Are My Children the Last Generation Not to be "Genetically" Engineered?

As described in a patent recently granted by the United States Patent Office, consumer genomics company 23andMe has developed a system for helping prospective parents choose the traits of their offspring, from disease risk to hair color. Put another way, it’s a designer baby-making system.

The company says it does not intend to use the technology this way. “When we originally introduced the tool and filed the patent there was some thinking the feature could have applications for fertility clinics,” said Catherine Afarian, a 23andMe spokeswoman. “But we’ve never pursued the idea, and have no plans to do so.”

Filed in December 2008, the patent — number 8543339, “Gamete donor selection based on genetic calculations” — sounds like something out of Gattaca, the 1997 movie that came to symbolize tensions between self-determination and biologically ordained fate.

The patent describes a technology that would take a customer’s preferences for a child’s traits, compute the likely genomic outcomes of combinations between a customer’s sperm or egg and other people’s sex cells, and describe which potential reproductive matches would most likely produce the desired baby.

Among the traits listed in the application as examples of possible choice are: height, weight, hair color, risks of colorectal cancer and congenital heart defects, expected life span, expected lifetime health care costs, and athleticism. The company, which has about 400,000 customers, offers genomic analysis of more than 240 traits altogether, from Alzheimer’s disease risk to breast shape and memory. Additional traits from this longer list could presumably be used the same way.

link.

I am actually not against genetically engineering our offspring.  There are NUMEROUS defects which could be edited out relatively easily if caught early on (cystic fibrosis, anyone?).  However, the difficulties and dangers need to be approached carefully for traits which are multigene.  Those have complications past a single trait. 

Autism: An X Chromosome Linked Trait?

New research from the Centre for Addiction and Mental Health (CAMH) and The Hospital for Sick Children (SickKids), both in Toronto, Canada provides further clues as to why Autism Spectrum Disorder (ASD) affects four times more males than females. The scientists discovered that males who carry specific alterations of DNA on the sole X-chromosome they carry are at high risk of developing ASD. The research is published in the September 15 issue of Science Translational Medicine.

ASD is a neurological disorder that affects brain functioning, resulting in challenges with communication and social interaction, unusual patterns of behaviour, and often, intellectual deficits. ASD affects one in every 120 children and a startling one in 70 boys. Though all of the causes of ASD are not yet known, research has increasingly pointed towards genetic factors,. In recent years, several genes involved in ASD have successfully been identified.

The research team was led by Dr. John B. Vincent, Senior Scientist and head of CAMH's Molecular Neuropsychiatry and Development Laboratory and Dr. Stephen Scherer, Senior Scientist and Director of The Centre for Applied Genomics at SickKids, and Director of the McLaughlin Centre at the University of Toronto. The scientists analyzed the gene sequences of 2,000 individuals with ASD, along with others with an intellectual disability, and compared the results to thousands of population controls. They found that about one per cent of boys with ASD had mutations in the PTCHD1 gene on the X-chromosome. Similar mutations were not found in thousands of male controls. Also, sisters carrying the same mutation are seemingly unaffected.

"We believe that the PTCHD1 gene has a role in a neurobiological pathway that delivers information to cells during brain development – this specific mutation may disrupt crucial developmental processes, contributing to the onset of autism." said Dr. Vincent. "Our discovery will facilitate early detection, which will, in turn, increase the likelihood of successful interventions."

"The male gender bias in autism has intrigued us for years and now we have an indicator that starts to explain why this may be," says Dr. Scherer. "Boys are boys because they inherit one X-chromosome from their mother and one Y-chromosome from their father. If a boy's X-chromosome is missing the PTCHD1 gene or other nearby DNA sequences, they will be at high risk of developing ASD or intellectual disability. Girls are different in that, even if they are missing one PTCHD1 gene, by nature they always carry a second X-chromosome, shielding them from ASD." Scherer adds, "While these women are protected, autism could appear in future generations of boys in their families."

There was a relatively recent study that found that autism was more common in affluent caucasian families with older parents. It went rather contrary to the environmental causes hypothesis. If I have time (HA!) I'll find and put a link to that one.

It makes me wonder if this can be directly linked to postponing having kids: we already know of increased rates of other issues such as down's and whatnot. Perhaps the damage is being caused by meiosis potentially going slightly off tracks in (some) older women. As more women postpone their fertility, the number of autistic children rises and will continue to do for generations afterwards because their daughters might be carriers of the damaged regions on their inherited X chromosomes.

I can't imagine that this will be a popular study result or my hypothesis either.

Gene Therapy For SIV Suggests Route for HIV Immunization

The quest for an HIV vaccine has been given a bad prognosis recently, due to increasing agreement that the human immune system isn't clever enough to outsmart the ever-changing surface of the virus. But now a new approach promises to solve the problem by sidestepping the immune system altogether, instead using gene therapy to produce immune molecules that neutralize the virus.

Reporting in Nature Medicine this week, Philip Johnson, a professor of pediatrics at the University of Pennsylvania, in Philadelphia, and his colleagues managed to protect monkeys from infection with the simian immunodeficiency virus (SIV), the animal model that is closest to HIV, by shuttling a gene into their muscles that produces antibody-like molecules that work against SIV.

[...]

Some antibodies have been shown to neutralize SIV, although exactly how they do this is not well understood. Getting the human immune system produce the few known antibodies that show similar potential for neutralizing HIV has also been impossible.

To tackle this problem, Johnson turned to another virus for help. A modified version of the adeno-associated virus (AAV) has been proved to work as a convenient vector for delivering gene snippets safely into the human body for gene therapy, and it has been used successfully to treat hemophilia and congenital blindness by supplying patients with genes that are otherwise missing.

Johnson and his colleagues designed DNA sequences for particularly stable versions of two antibodies known to be effective against SIV. They used antibody-like molecules, called immunoadhesins, in which the functional part of an antibody is fused with a more stable section of another antibody

The team engineered the immunoadhesin sequences into the AAV vector and injected the constructs into the muscles of nine rhesus macaques, where the muscle cells then started to produce the chimeric antibodies and secrete them into the bloodstream. After four weeks, the team infected the monkeys with SIV and monitored their health along with antibody and virus levels in their blood over one year. Six of the nine macaques showed no sign of SIV infection, and the remaining three did not develop AIDS during the course of the study. In contrast, six control monkeys all became infected, and four of them died before the experiment finished.

The results are "really encouraging," says Andrew Sewell of Cardiff University's School of Medicine in the U.K., who was not involved in the study. "I have not seen anything that worked this well before."

"This has given us a really big green light in the monkey model, but of course we still need to show this also works in humans," says Johnson. There are four potent antibodies that work against HIV, and it may be possible to use the AAV vector to deliver the necessary genetic sequences for the antibodies in humans. Johnson hopes to get permission to start clinical trials soon and is optimistic that the technique can be adapted to humans. If successful, he says, it could turn into an affordable way to protect against HIV.

*crosses fingers*

Today sux.

That is all.

Could the Neandertals Have Had /Races/?!

The Neanderthals inhabited a vast geographical area extending from Europe to western Asia and the Middle East 30,000 to 100,000 years ago. Now, a group of researchers are questioning whether or not the Neanderthals constituted a homogenous group or separate sub-groups (between which slight differences could be observed). A new study published April 15 in the online, open-access, peer-reviewed journal PLoS ONE may provide some answers.

Paleoanthropological studies based on morphological skeletal evidence have offered some support for the existence of three different sub-groups: one in Western Europe, one in southern Europe and another in the Levant.

Researchers Virginie Fabre, Silvana Condemi and Anna Degioanni from the CNRS Laboratory of Anthropology (UMR 6578) at the University of Marseille, France, have given further consideration to the question of diversity of Neanderthals by studying the genetic structure of the mitochondrial DNA (mtDNA) and by analyzing the genetic variability, modeling different scenarios. The study was possible thanks to the publication, since 1997, of 15 mitochondrial DNA (mtDNA) sequences (the mtDNa is maternally transmitted) that originated from 12 Neanderthals.

The new study confirms the presence of three separate sub-groups and suggests the existence of a fourth group in western Asia. According to the authors, the size of the Neanderthal population was not constant over time and a certain amount of migration occurred among the sub-groups. The variability among the Neanderthal population is interpreted to be an indirect consequence of the particular climatic conditions on their territorial extension during the entire middle Pleistocene time period.

Could it be that the Neanderthals, rather than just be the pasty redheaded Euros that are often depicted...could they have had their own 'races' much like modern humans do? Wouldn't that be so damned kewl!!!

Meet Wilma, the Neandertal

The Reason for KT Tunstall's Stage Name

EDINBURGH-based pop star KT Tunstall has revealed a new reason behind her stage name.

The singer, 32, had previously said she changed her childhood name Katie because it "reminded her of a buxom maid".

However, she now says it is all to do with geology. She said songwriter Billy Bragg found a term called the "KT Impact, which marks the start of the extinction of the dinosaurs".

kewl...and a bummer. Too bad she didn't find it herself.

Mississippi Law: No Fat People at Restaurants

A state lawmaker wants to ban restaurants from serving food to obese customers — but please, don't be offended. He says he never even expected his plan to become law.

"I was trying to shed a little light on the number one problem in Mississippi," said Republican Rep. John Read of Gautier, who acknowledges that at 5-foot-11 and 230 pounds, he'd probably have a tough time under his own bill.

More than 30 percent of adults in Mississippi are considered it obese, according to a 2007 study by the Trust for America's Health, a research group that focuses on disease prevention.

The state House Public Health Committee chairman, Democrat Steve Holland of Plantersville, said he is going to "shred" the bill.

"It is too oppressive for government to require a restaurant owner to police another human being from their own indiscretions," Holland said Monday.

Yet we do so for a bar tender! This seems like a pretty good idea to me!

Homo floresiensis wrist NOT H sapiens (or even close)

The team turned its research focus to the most complete of the 12 skeletons discovered and specifically toward three little bones from the hobbit’s left wrist. The research asserts that modern humans and our closest fossil relatives, the Neandertals, have a very differently shaped wrist in comparison to living great apes, older fossil hominins like Australopithecus (e.g., “Lucy”) and even the earliest members of the genus Homo (e.g., Homo habilis, the “handy-man”). But the hobbit’s wrist is basically indistinguishable from an African ape or early hominin-like wrist—nothing at all like that seen in modern humans and Neandertals.

The lead author of the study, Matt Tocheri, a paleoanthropologist in the Smithsonian’s Human Origins Program at the National Museum of Natural History, was completely surprised when he first saw casts of the hobbit’s wrist bones. “Up until then, I had no definitive opinion regarding the hobbit debates,” said Tocheri. “But these hobbit wrist bones do not look anything like those of modern humans. They’re not even close!”

The evidence from the hobbit’s wrist is extremely important because it demonstrates further that the hobbit indeed represents a different species of human as was originally proposed by its discoverers. It is not a modern human with some sort of pathology or growth disorder. The distinctive shapes of wrist bones form during the first trimester of pregnancy while most pathologies and growth disorders do not begin to affect the skeleton until well after that time. Therefore, pathologies or growth defects cannot adequately explain why a modern human would have a wrist that was indistinguishable from that of an African ape or primitive hominin.

This evidence suggests that modern humans and Neandertals share an earlier human ancestor that the hobbits do not. Tocheri continued, “Basically, the wrist evidence tells us that modern humans and Neandertals share an evolutionary grandparent that the hobbits do not, but all three share an evolutionary great-grandparent. If you think of modern humans and Neandertals as being first cousins, then the hobbit is more like a second cousin to both.”

Someone have the paper? Did they compare the wrist bones to H erectus? It sounds like this is no longer something that ought to be considered an H erectus derivative, but rather an H habilis or something else deriv. I'm waiting for John Hawks' reaction.

An Observation

My wife will be back in 36 hours and I will be very, very happy when that happens. In the mean time, I find myself unable to sleep and decided to watch THEM! again. Quietly, to be sure, since my daughter is fast asleep and that last thing I want is for her to have some ant enduced nightmares especially because of bad child actors.

However since the net is such a useful tool, I decided to browse up some info on the movie. IMDB was a place to start and decided to go through and look up abit on the actors and actresses. There were a few actors there that caught my attention. I didn't realize the hero policeman - a New Mexico State Police Officer (*looks green* just kidding, mostly, but if he'd been border patrol, I'd not be) was also the old and suicidal parolee in The Shawshank Redemption. Wow. Talk about a very long career. Another interesting one was the old professor. My mother loved Miracle on 34th Street and damned if as soon as I read that in his bio that the voice snapped into place. Also there for a blip was a rather younger Spock: man, talk about getting stuck in a genre.

However, the one that struck me more than any was the woman that played Pat, also supposed to be a PhD Dr. It wasn't for anything that she was overly beautiful or whatnot: not bad, not really my taste, but y'know the period costume might have had some neagtive effect. No, what struck me, big time, was that at the time of the film, she was 21. Yep, 21. I'd have guessed a half decade older. Perhaps even pushing 30. Nope. Just 21. Interesting that I took her for that. I thought about the 21 yos I've known, and...I just have to wonder if we're aging a bit differently these days. I mean, the 21 yos these days still look, well, almost like teens, comparatively.

That's not meant as a put down or whatever, just that it's a "Huh! That's odd!" moment.