4 new genetic regions that influence birth weight!

You're already determined to be a fat child!

Researchers have identified four new genetic regions that influence birth weight, providing further evidence that genes as well as maternal nutrition are important for growth in the womb. Three of the regions are also linked to adult metabolism, helping to explain why smaller babies have higher rates of chronic diseases later in life.

It has been known for some time that babies born with a lower birth weight are at higher risk of chronic diseases such as type 2 diabetes and cardiovascular disease. Three genetic regions have already been identified that influence birth weight, two of which are also linked to an increased susceptibility to type 2 diabetes.

The latest study analysed almost 70,000 individuals of European, Arab, Asian and African American descent from across 50 separate studies of pregnancy and birth. Their findings confirmed the three regions previously identified and also revealed four new genetic regions that are associated with birth weight. The study was part-funded by the Wellcome Trust, the Netherlands Organisation for Scientific Research, the European Union, the Medical Research Council (UK), the Academy of Finland and the National Institute of Health (USA).

One of the new genetic regions is also associated with blood pressure in adulthood, providing the first evidence of a genetic link between birth weight and blood pressure. Two of the regions are known to be linked to adult height, showing that genes involved in growth begin to take effect at a very early stage.

Professor Mark McCarthy, a co-author of the study from the Wellcome Trust Centre for Human Genetics, said: "Our findings add to the growing evidence that events during early growth in the womb can have a significant impact on our health as adults. However, these genes tell only part of the story. It's important that we understand how much is down to genetics and how much is due to the environment in which we grow so that we can target efforts to prevent disease later in life."

Researchers discover 15 new genetic regions linked with coronary artery disease

The University of Ottawa Heart Institute (UOHI) participated in the largest genetic study of Coronary Artery Disease (CAD) to date. Researchers from the CARDIoGRAMplusC4D Consortium report the identification of 15 genetic regions newly associated with the disease, bringing to 46 the number of regions associated with CAD risk.

The Ruddy Canadian Cardiovascular Genetics Centre, at the Heart Institute, was the main genetic centre in Canada contributing most patient cases involved in this study and analyzing patient cases from across North America.

In this unparalleled study, published today in the prestigious scientific magazine Nature, the team identified a further 104 independent genetic variants that are very likely to be associated with the disease, enhancing our knowledge of the genetic component that causes CAD.

Researchers, including Dr. George Wells and Dr. Alexandre Stewart from the Heart Institute, used their discoveries to identify biological pathways that underlie the disease and showed that lipid metabolism and inflammation play a significant role in CAD.

CAD and its main complication, myocardial infarction (heart attack), are some of the most common causes of death in the world and approximately one in five men and one in seven women die from the disease in the UK. CAD has a strong inherited basis.

"These findings show, for the first time, clear evidence that several of the genetic risk factors for CAD function through known inflammatory pathways," said Dr. Robert Roberts, President and CEO of the Heart Institute and Director of the Ruddy Canadian Cardiovascular Genetics Centre. "This identifies a novel pathway for the prevention of heart disease and establishes molecules that can now be targeted for developing new therapies."

Continue reading here:

 

Family member's DNA solves 1978 killing

A man who never knew his father was the missing link Santa Ana cold-case detectives needed to solve the apparent sexual assault and murder of a young mother and the shooting of her friend in 1978. The case was solved earlier this month using DNA taken from crime scenes to identify family members of a suspected criminal.

California is one of three states that permit the technique, called familial searching. It has led to the 2010 arrest of a man suspected of being the "Grim Sleeper," a serial killer who terrorized South Los Angeles for two decades, and the 2011 arrest of a young man linked to the sexual assault of a woman at a coffee shop near the Santa Cruz Harbor.
The Santa Ana case marks the first time familial DNA has led to an Orange County crime being solved.
Mary Hong, a forensic scientist at the Orange County Crime Lab in Santa Ana, has been trying to solve the homicide of then 26-year-old Lynda Susan Saunders since 1996, when she developed a DNA profile of the perpetrator using semen left on the victim.
In the early 2000s, Hong retested the evidence using new DNA technology that provided a better identification of the suspect. The DNA profile was sent to the California Department of Justice's data bank and to the FBI's Combined DNA Index System, but there was no match.
The decades-old sexual assault and killing of Saunders and shooting of her friend, Michael Scott Reynolds, then 28, went cold. But in 2006, the Santa Ana Police Department's Cold Case Unit was formed to review more than 250 unsolved deaths.

read the whole article here:

http://www.ocregister.com/news/dna-379543-santa-familial.html

First Pics of DNA Photographed!

DNA's double-helix structure is on display for the first time in this electron microscope photograph of a small bundle of DNA strands. (Enzo Di Fabrizio)

A bundle of DNA is supported by two silicon pillars. (Enzo Di Fabrizio)

 Click on the images for a larger view.

Fifty-nine years after James Watson and Francis Crick deduced the double-helix structure of DNA, a scientist has captured the first direct photograph of the twisted ladder that props up life.
Enzo Di Fabrizio, a physics professor at the Magna Graecia University in Catanzaro, Italy, snapped the picture using an electron microscope.

Read more: http://www.foxnews.com/science/2012/12/03/dna-directly-photographed-for-first-time/#ixzz2E0V1Z0IH

Previously, scientists had only seen DNA's structure indirectly. The double-corkscrew form was first discovered using a technique called X-ray crystallography, in which a material's shape is reconstructed based on how X-rays bounce after they collide with it.

But Di Fabrizio and his colleagues developed a plan to bring DNA out of hiding. They built a nanoscopic landscape of extremely water-repellant silicon pillars. When they added a solution that contained strands of DNA into this scene, the water quickly evaporated and left behind cords of bare DNA that stretched like tightropes between the tiny mesas.

They then shone beams of electrons through holes in the silicon bed, and captured high-resolution images of the illuminated molecules.

Di Fabrizio's images actually show a thread of several interwoven DNA molecules, as opposed to just two coupled strands. This is because the energy of the electrons used would be enough to destroy an isolated double helix, or a single strand from a double helix.

But with the use of more sensitive equipment and lower energy electrons, Di Fabrizio thinks that snapshots of individual double helices will soon be possible, reports New Scientist

Molecules of DNA, or deoxyribonucleic acid, store the genetic instructions that govern all living organisms' growth and function.

Di Fabrizio's innovation will allow scientists to vividly observe interactions between DNA and some of life's other essential ingredients, such as RNA (ribonucleic acid). The results of Di Fabrizio's work were published in the journal NanoLetters.

How Childhood Trauma Can Affect and Alter DNA

Childhood trauma we know for a fact has deep reaching effects. Mostly believed to be limited to psycological, it seems now studies have shown it goes much deeper.

Traumatic experience can induce lasting changes to abused children’s gene regulation that can last through adulthood, putting them at high risk of anxiety and mood disorders. Scientists at the Max Planck Institute of Psychiatry report that genetic variants of the FKBP5 gene, an important regulator of the stress hormone system, can influence epigenetic alterations in this gene induced by early trauma.

The team found that in individuals with a certain allele of FKBP5, trauma causes long-term changes in DNA methylation. This demethylation was linked to increased stress-dependent gene transcription followed by a long-term dysregulation of the stress hormone system and a global effect on the function of immune cells and brain areas associated with stress regulation. As a result, those affected find themselves less able to cope with stressful situations throughout their lives, frequently leading to depression, post-traumatic stress disorder, or anxiety disorders in adulthood.

Research group leader Elisabeth Binder of the Max Planck Institute of Psychiatry examined the DNA of almost 2,000 Afro-Americans who had been repeatedly and severely traumatized as adults or in childhood. One-third of trauma victims had become ill and were now suffering from post-traumatic stress disorder. The risk of developing post-traumatic stress disorder rose with increasing severity of abuse only in the carriers of a specific genetic variant in the FKBP5 gene. The scientists hoped to cast light on the mechanisms of this gene-environment interaction by comparing modifications of the DNA sequence of victims who had not become ill with that of those who had.

The scientists were then able to demonstrate that the genetic FKBP5 variant does make a physiological difference to those affected, as seen in nerve cells. Extreme stress and the associated high concentrations of stress hormones bring about an epigenetic change. A methyl group is broken off the DNA at this point, causing a marked increase in FKBP5 activity. This lasting epigenetic change is generated primarily through childhood traumatization. Consequently, no disease-related demethylation of the FKBP5 gene was detected in participants who were traumatized in adulthood only.

“Depending on genetic predisposition, childhood trauma can leave permanent epigenetic marks on the DNA,” explains Torsten Klengel, M.D., one of the study authors. “The consequence is a permanent dysregulation of the victim’s stress hormone system, which can ultimately lead to psychiatric illness. Decisive for victims of childhood abuse, however, is that the stress-induced epigenetic changes can only occur if their DNA has a specific sequence.”

The investogators say this study improves our understanding of psychiatric illnesses that arise from the interaction of environmental and genetic factors. The study was published online yesterday in Nature Neuroscience under the title “Allele-specific FKBP5 DNA demethylation mediates gene–childhood trauma interactions”.

originally posted on:

http://www.genengnews.com/gen-news-highlights/childhood-trauma-can-alter-dna/81247708/

Why Genetic Information Should be a Trade Secret

This has been a hot topic thats doing rounds. Why should genetic information be a trade secret?

National health systems and insurers, regulators, researchers, providers and patients all have a strong interest in ensuring broad access to information about the clinical significance of variants discovered through genetic testing.

The whole question of proprietary claims over genetic information is not limited to patents and is very much open to debate.  In essence, the authors say that the Myriad patent saga serves as an excellent case study of the importance of collecting clinical data and the implications of keeping those data private. Myriad’s imminent entry into Europe presents an opportunity to implement policies on access to data on the mutation of the BRCA gene which leads to breast cancer. Such policies would set a salutary precedent not only for BRCA but for genetic testing in general, including whole-genome analysis. Mutations on single point mutations on active stretches of the gene are clearly deleterious because they disrupt protein function. Data on these mutations are valuable to those tested and to their health providers, influencing decisions about treatment options. But other data is being withheld, report the authors, which could be essential for further research in the analysis and treatment of cancer caused by single point variations. These are  ‘variants of unknown significance’ (VUS). They occur between the active and inactive segments of the gene and are therefore particularly difficult to interpret. The paper reports that Myriad claims that the fraction of cases resulting in a VUS is 3% in its hands, and 20% for most EuropeanBRCA-testing services.

You can read the entire article here:

http://ukhumanrightsblog.com/2012/12/03/should-genetic-information-be-a-trade-secret/

 

A Little Variation Makes All the Difference in Human Genetics

Paul Diehl's Article

Genes make us who we are and the small variations between each person's genes do more than just make us look different. They influence our unique physiology, personality, intelligence, and health. They can also tell us where our ancestors originated.
The sequencing of the human genome--the genetic material contained in each person--was completed in 2003. However, this just provided a reference DNA sequence. While the DNA in different humans is more than 99% identical, each individual's genome is a little different. It is this small variation that makes each of us unique.
The less than 1% differences between the genomes of two individuals amounts to millions of variations in the 3 billion bases of DNA in each of their cells. Since the completion of the first human genome, researchers have been devoting massive efforts to work out the effect of these variations in different people's genomes. Of course they define our physical differences, but they also influence our susceptibility to diseases, determine our sensitivity to various chemicals and drugs, affect our metabolism, and influence our behavior and neurology.
Almost 10 years after the completion of the human genome sequence, science is starting to understand enough about how specific DNA variations produce different traits and predispose individuals to various health and lifestyle risks to impact individual healthcare.
Just a couple weeks ago, over 6,000 scientists met at the American Society of Human Genetics (ASHG) in San Francisco to discuss the latest research linking human DNA variations to diseases and other human characteristics. Sessions at the conference discussed the genetics of cancer, cardiovascular disease, metabolic disorders, neurodegenerative diseases, and pharmacogenetics--which deals with how people with different genetics can respond differently a drug. To get a sense of the conference, here are a couple blogs from attendees. Brigitte Ganter from DNANexus gives a general overview of the conference, and Razib Khan on the Discover website offers a more on-the-ground view of happenings at this event. A blog by Meg Byrne from the journal PLOS also highlights some interesting published genomic research (although not necessarily presented at the ASHG conference)
I was fortunate enough to stop in at the ASHG conference for a day to poke around. I just posted a couple articles that offer a bit of an introduction to genomics science. One talks about, Genetic Variation, Disease Genes, and Risk Factors, and the other, How Researchers Figure Out Which Genes Are Associated with Diseases. Hope you find them interesting. I will also add a couple other related pieces in coming weeks.

Stem Cells Now Being Harvested from Blood: Top Stem Cell Stocks

Stem cells therapies are currently used in bone marrow transplants that are used to treat leukemia, and scientists believe in the future, they can be used to treat cancer, Parkinson’s disease, and multiple sclerosis. Researchers at the at the University of Cambridge have developed a way of producing stem cells with blood. The research was published in the Stem Cells: Translational Medicine journal. With all the controversy about embryonic stem cells, scientists are looking for alternative sources, such a teeth and umbilical cord blood.

Several companies are involved in some aspect of stem cells and stem cell research. WallStreetNewsNetwork.com has turned up over a dozen stem cell stocks, and over half a dozen of which are generating profits.

Alexion Pharmaceuticals (ALXN) is a Connecticut based company with an $18.7 billion market capitalization that is involved in the development of biologic therapeutic products for the treatment of hematologic and cardiovascular disorders, auto-immune diseases, and cancer. The company licenses porcine embryonic stem cells for transgenic animals. The stock has a price to earnings ratio of 85 and a forward PE of 42.6. Earnings for the latest quarter were up an incredible 40.6%% on a 44.2% boost in revenues.

Integra Lifesciences Holdings (IART) is a New Jersey based company that develops, manufactures, and sells medical devices, implants, biomaterials, and instruments to the stem cell, surgery, and soft tissue repair markets. The stock trades at 33 times current earnings, and 12 times forward earnings. However, earnings for the latest quarter were up a strong 17.5% on a 3.9% rise in sales.

Cellgene (CELG) is a $29.8 billion market cap company involved in the discovery and production of therapies designed to treat cancer and immune-inflammatory-related diseases. One of the company’s main products is Thalomid, which is used for the treatment of erythema nodosum leprosum, a complication of leprosy. They also received a patent on placental stem cell recovery. The stock sports a PE ratio of 22 and a forward PE of 14. Quarterly earnings were up 13.7%% on a 13.6%% revenue increase.

For a free list of twenty stocks involved in stem cell research, along with some cord blood stocks, which you can download, sort, and update, go to WallStreetNewsNetwork.com.

Disclosure: Author did not own any of the above at the time the article was written.

By Stockerblog.com

'Bigfoot' DNA Sequenced

A team of scientists can verify that their 5-year long DNA study, currently under peer-review, confirms the existence of a novel hominin hybrid species, commonly called “Bigfoot” or “Sasquatch,” living in North America. Researchers’ extensive DNA sequencing suggests that the legendary Sasquatch is a human relative that arose approximately 15,000 years ago as a hybrid cross of modern Homo sapiens with an unknown primate species.
The study was conducted by a team of experts in genetics, forensics, imaging and pathology, led by Dr. Melba S. Ketchum of Nacogdoches, TX. In response to recent interest in the study, Dr. Ketchum can confirm that her team has sequenced 3 complete Sasquatch nuclear genomes and determined the species is a human hybrid:
“Our study has sequenced 20 whole mitochondrial genomes and utilized next generation sequencing to obtain 3 whole nuclear genomes from purported Sasquatch samples. The genome sequencing shows that Sasquatch mtDNA is identical to modern Homo sapiens, but Sasquatch nuDNA is a novel, unknown hominin related to Homo sapiens and other primate species. Our data indicate that the North American Sasquatch is a hybrid species, the result of males of an unknown hominin species crossing with female Homo sapiens.
Hominins are members of the taxonomic grouping Hominini, which includes all members of the genus Homo. Genetic testing has already ruled out Homo neanderthalis and the Denisova hominin as contributors to Sasquatch mtDNA or nuDNA. “The male progenitor that contributed the unknown sequence to this hybrid is unique as its DNA is more distantly removed from humans than other recently discovered hominins like the Denisovan individual,” explains Ketchum.
“Sasquatch nuclear DNA is incredibly novel and not at all what we had expected. While it has human nuclear DNA within its genome, there are also distinctly non-human, non-archaic hominin, and non-ape sequences. We describe it as a mosaic of human and novel non-human sequence. Further study is needed and is ongoing to better characterize and understand Sasquatch nuclear DNA.”
Ketchum is a veterinarian whose professional experience includes 27 years of research in genetics, including forensics. Early in her career she also practiced veterinary medicine, and she has previously been published as a participant in mapping the equine genome. She began testing the DNA of purported Sasquatch hair samples 5 years ago.
Ketchum calls on public officials and law enforcement to immediately recognize the Sasquatch as an indigenous people:
“Genetically, the Sasquatch are a human hybrid with unambiguously modern human maternal ancestry. Government at all levels must recognize them as an indigenous people and immediately protect their human and Constitutional rights against those who would see in their physical and cultural differences a ‘license’ to hunt, trap, or kill them.”
Full details of the study will be presented in the near future when the study manuscript publishes.

Malaria vaccine comes closer to reality

Two multi-national research teams have newly sequenced malaria genomes revealing new challenges in efforts to eradicate the parasite.

It also offers a clearer and more detailed picture of its genetic composition, providing an initial roadmap in the development of pharmaceuticals and vaccines to combat malaria.

They focus on Plasmodium vivax (P. vivax), a species of malaria that afflicts humans and the most prevalent human malaria parasite outside Africa, and Plasmodium cynomolgi (P. cynomolgi), a close relative that infects Asian Old World monkeys.

"The bad news is there is significantly more genetic variation in P. vivax than we'd thought, which could make it quite adept at evading whatever arsenal of drugs and vaccines we throw at it," said Professor Jane Carlton, senior author on both studies and part of New York University's Center for Genomics and Systems Biology.

"However, now that we have a better understanding of the challenges we face, we can move forward with a deeper analysis of its genomic variation in pursuing more effective remedies," Professor Carlton added.

In one study, the researchers examined P. vivax strains from different geographic locations in West Africa, South America, and Asia, providing the researchers with the first genome-wide perspective of global variability within this species.

Their analysis showed that P. vivax has twice as much genetic diversity as the world-wide Plasmodium falciparum (P. falciparum) strains, revealing an unexpected ability to evolve and, therefore, presenting new challenges in the search for treatments.

The second study, performed jointly with Professor Kazuyuki Tanabe at Osaka University, Japan, sequenced three genomes of P. cynomolgi. The researchers compared its genetic make-up to P. vivax and to Plasmodium knowlesi (P. knowlesi), a previously sequenced malaria parasite that affects both monkeys and humans in parts of Southeast Asia.

Their work marked the first time P. cynomolgi genomes have been sequenced, allowing researchers to identify genetic diversity in this parasite. Its similarity to P. vivax means that their results will also benefit future efforts to understand and fight against forms of malaria that afflict humans.

"We have generated a genetic map of P. cynomolgi, the sister species to P. vivax, so we can now push forward in creating a robust model system to study P. vivax. This is important because we can't grow P. vivax in the lab, and researchers desperately need a model system to circumvent this," explained Tanabe.

The research appears in two studies published in the latest issue of the journal Nature Genetics.

Does your DNA make you nice?

Why are people nice? or have you ever wondered what makes people nice? Money, happiness, fame, wealth...all hogwash! it's in their DNA! Well..partly at least...a new study suggests, but genes don’t tell the whole story.

The new research adds to the evidence linking specific genes to kindness and generosity, but these traits were also influenced by views about whether the world was a threatening or non-threatening place.

So although DNA may influence behavior, people do not come pre-programmed to be kind or mean or altruistic or selfish, says lead researcher Michael Poulin, PhD, of the University at Buffalo.

“We are not just puppets of our genes,” Poulin tells WebMD. “Genes influence niceness in combination with perceptions of social threat, which come from our past and present experiences.”

Oxytocin, Vasopressin: Niceness Genes?

Poulin and colleagues from the University at Buffalo and the University of California, Irvine, focused their research on the closely related hormones oxytocin and vasopressin, which have previously been linked to social behaviors, including love, generosity, and empathy.

They wanted to find out how expression of the two genes interacted with people’s experiences and feelings to affect behavior.

To do this, they surveyed people via the Internet about their views on civic responsibility, such as whether they considered it their duty to report crimes or pay taxes, and whether they participated in charitable activities such as giving blood or attending PTA meetings.

The study participants were also asked if they viewed other people as basically “good” or “bad,” and if they saw the world as more “threatening” or “non-threatening.”

About 700 of those who participated also provided saliva samples for DNA analysis, which showed whether they had the specific genetic receptors for oxytocin and vasopressin that have been linked to traits associated with niceness.

People who reported finding the world to be a threatening place were generally less likely to exhibit social behaviors linked to niceness, such as charitable giving — unless they had these versions of the genes.The study appears in this month’s issue of the journal Psychological Science.Poulin says the fact that the genes predicted behavior only in combination with people’s experiences and feelings about the world isn’t surprising, because most connections between DNA and social behavior are complex.

‘Love Hormone,’ ‘Cuddle Chemical’

Oxytocin has long been known to play a major role in childbirth and lactation, but over the last decade numerous studies have linked it more broadly to mother-child bonding and to other aspects of social interactions.Because of this, it has variously been referred to as the “love hormone” and “cuddle chemical.”

Cute names aside, University of Maryland School of Medicine professor and chair Margaret McCarthy, PhD, says the evidence that oxytocin and vasopressin play major roles in human social interaction is now quite strong.

“Humans are intensely social, and these hormones may have a lot to do with why we have evolved to be so social and so cooperative,” McCarthy tells WebMD. “It is interesting that a hormone that exists for the purposes of giving birth and lactation has been co-opted to facilitate increased trust and cooperation with strangers.”

She says the new research, like previous studies, highlights the interaction between genes and environment in determining behavior.

SOURCES:Poulin, M.J. Psychological Science, April 2012.Michael Poulin, PhD, assistant professor of psychology, University at Buffalo, SUNY, Buffalo, N.Y.Margaret McCarthy, PhD, professor of physiology and psychiatry, University of Maryland School of Medicine, Baltimore, Md.News release, University at Buffalo, SUNY.

This article is from WebMD. 

why women live longer - It's in the DNA

Scientists are beginning to understand one of life's enduring mysteries - why women live, on average, longer than men.

 

Published in Current Biology, research led by Monash University describes how mutations to the DNA of the mitochondria can account for differences in the life expectancy of males and females. Mitochondria, which exist in almost all animal cells, are vital for life because they convert our food into the energy that powers the body.

 

Dr Damian Dowling and PhD student, Florencia Camus, both from the Monash School of Biological Sciences, worked with Dr David Clancy from Lancaster University to uncover differences in longevity and biological ageing across male and female fruit flies that carried mitochondria of different origins. They found that genetic variation across these mitochondria were reliable predictors of life expectancy in males, but not in females. 

 

Dr Dowling said the results point to numerous mutations within mitochondrial DNA that affect how long males live, and the speed at which they age.

 

"Intriguingly, these same mutations have no effects on patterns of ageing in females. They only affect males,” Dr Dowling said.  

 

“All animals possess mitochondria, and the tendency for females to outlive males is common to many different species. Our results therefore suggest that the mitochondrial mutations we have uncovered will generally cause faster male ageing across the animal kingdom.”

 

The researchers said these mutations can be entirely attributed to a quirk in the way that mitochondrial genes are passed down from parents to offspring. 

 

“While children receive copies of most of their genes from both their mothers and fathers, they only receive mitochondrial genes from their mothers. This means that evolution’s quality control process, known as natural selection, only screens the quality of mitochondrial genes in mothers," Dr Dowling said.

 

"If a mitochondrial mutation occurs that harms fathers, but has no effect on mothers, this mutation will slip through the gaze of natural selection, unnoticed. Over thousands of generations, many such mutations have accumulated that harm only males, while leaving females unscathed.”

 

The study builds on previous findings by Dr Dowling and his team that investigated the consequences of maternal inheritance of mitochondria in causing male infertility.

 

“Together, our research shows that the mitochondria are hotspots for mutations affecting male health. What we seek to do now is investigate the genetic mechanisms that males might arm themselves with to nullify the effects of these harmful mutations and remain healthy,” Dr Dowling said.

Blood Test May Spot Genetic Disease in Fetuses

 Samples of blood and saliva from parents-to-be may help identify thousands of genetic disorders in fetuses soon afterconception without invasive testing, researchers say.

In a study published today in the journal Science Translational Medicine, researchers from the University of Washington report that they were able to determine the complete DNA sequence of two babies in the womb by analyzing blood samples from the mother and saliva samples from the father.

Genetic predictions were confirmed once the babies were born by analyzing umbilical cord blood collected at birth.

The test is not ready for use yet. Although cost and technological challenges remain, the research could lead to a simple non-invasive test to identify more than 3,000 disorders caused by single-gene mutations, says study co-author Jay Shendure, MD, PhD.

"Many of these diseases are so rare that most people have never heard of them, but collectively they affect around 1% of births," Shendure tells WebMD.

Fetal DNA in Mom's Blood

Only a few genetic disorders, including Down syndrome, are screened for duringpregnancy. They use invasive and potentially risky procedures such as amniocentesis and chorionic villus sampling.

The search is underway for less invasive tests using blood samples from pregnant women instead of fluid from the uterus. That's based on the recognition that fetal DNA is present in the blood of pregnant women at varying concentrations during pregnancy.

In the newly published study, researchers confirmed that blood taken from an expectant mother about 18 weeks into her pregnancy and saliva specimens taken from the father contained enough genetic information to map the DNA code of thedeveloping fetus.

The finding was later confirmed in another expectant couple with blood taken from the mother even earlier in her pregnancy.

Doctoral candidate Jacob Kitzman, who led the study, says the researchers were able to identify new mutations in fetuses not shared with either parent.

Because these mutations are the cause of many genetic disorders, searching for them is critical for a comprehensive test, Kitzman tells WebMD.

Interpreting Data Remains a Challenge

Mutations have been linked to more complex disorders influenced by genes, including autism, epilepsy, and schizophrenia. But it remains to be seen if fetal DNA mapping will be useful for assessing a baby's risk for these and other disorders in a clinical setting.

However, the capacity to collect data by mapping an unborn baby's DNA has outpaced medical science's ability to interpret the data in ways that are useful to doctors and patients, Shendure points out.

"Although the noninvasive prediction of a fetal genome is now technically feasible, its interpretation ... will remain an enormous challenge," he noted in a news statement.

Pediatrician and genetic disease specialist Arthur Beaudet, MD, agrees. He is professor and chair of the department of molecular and human genetics at Baylor College of Medicine in Houston. Beaudet did not work on the new test.

"We are increasingly going to have this kind of genetic information about ourselves and our children and even our unborn children," he tells WebMD, adding that as the cost of gene sequencing drops the research should lead to better, cheaper, and less invasive tests to identify genetic disease risk early in pregnancy.

Source: 

http://www.webmd.com/baby/news/20120606/blood-test-may-spot-genetic-disease-in-fetuses 

 

 

Why hopeful Dads should quick smoking now

A new research report appearing online in the FASEB Journal, scientists show for the first time in humans that men who smoke before conception can damage the genetic information of their offspring. These inherited changes in DNA could possibly render an offspring in the womb susceptible to later disease such as cancer.

This provides evidence showing why men should be urged to stop smoking before trying to conceive in the same way women have been urged to quit. Interestingly, a fertile sperm cell takes about three months to fully develop; therefore men would ultimately need to quit smoking long before conception to avoid causing genetic problems.

"That smoking of fathers at the time around conception can lead to genetic changes in their children indicates that the deleterious effects of smoking can be transmitted through the father to the offspring," said Diana Anderson, Ph.D., a researcher involved in the work from the School of Life Sciences at the University of Bradford, in the United Kingdom. "These transmitted genetic changes may raise the risk of developing cancer in childhood, particularly leukemia and other genetic diseases. We hope that this knowledge will urge men to cease smoking before trying to conceive."

To make this discovery, Anderson and colleagues used DNA biomarkers to measure genetic changes in the paternal blood and semen around conception, as well as maternal and umbilical cord blood at delivery in families from two different European regions in central England and a Greek island. Information regarding the lifestyle, environmental and occupational exposures of these families was taken from validated questionnaires. The combined analysis of exposures and DNA biomarkers was used to evaluate the role of exposures before conception and during pregnancy in the causation of genetic changes in the offspring. These results have strong implications for the prevention of disease.

"This report shows that smoking is a germ cell mutagen. If dad uses cigarettes, his kids will be affected even before they are born," said Gerald Weissmann, M.D., Editor-in-Chief of theFASEB Journal. "As Father's Day approaches, family members may want to give dads and prospective dads the help they need to quit smoking for good."

Federation of American Societies for Experimental Biology. "Another reason why dads and hopeful dads should quit smoking now." ScienceDaily, 23 Jun. 2012. Web. 25 Jun. 2012.

Pro-inflammatory genetic profile and familiarity of acute myocardial infarction

 

Acute myocardial infarction (AMI) or heart attacks as they are more commonly known is a multifactorial disease with a complex pathogenesis where lifestyle, individual genetic background and environmental risk factors are involved. Altered inflammatory responses are implicated in the pathogenesis of atherosclerosis and a premature AMI of parents is associated with an increased risk of the disease in their offspring.

However, the genetic background of familiarity for AMI is still largely unknown. To understand which genes may predispose to increased risk of cardiovascular disease gene polymorphism of immune regulatory genes, and clinical events from the Offs of parents with an early AMI were investigated.

Genetics data from Offs were compared with those obtained from healthy subjects and an independent cohort of patients with clinical sporadic AMI. Rates of clinical events during a 24 years follow up from Offs and from an independent Italian population survey were also evaluated. 

To read the entire article and the resutls please click here

"Gene-Brick{tm}" from GenScript is a Premier Gene Synthesis Service

Taken from PR.com - this had to be posted for our Gene synthesis readers!

GenScript USA Inc., an internationally recognized biology contract research organization (CRO) recently launched Gene-BrickTM, a premier gene synthesis service.

The Gene-BrickTM premier gene synthesis service is specifically designed to meet demands of large DNA fragments which are used in synthetic biology research, such as the building of large genetic circuits and synthetic chromosomes.

Gene-BrickTM services will synthesize ~10 Kb long DNA fragments as the fundamental building block of a synthetic genome. GenScript will deliver the 8-13 Kb full-length, synthetic DNA fragments with 100% guaranteed sequence accuracy. Being the first and the only commercial service provider of Gene-Brick synthesis, GenScript will make genome synthesis easier, faster, and less risk.

GenScript USA, Inc., is a leading biology CRO focusing on early drug discovery and development services. Built on assembly-line mode, one-stop solution, continuous improvement, and stringent IP protection, GenScript provides a comprehensive portfolio of services that include Bio-Reagent, Bio-Assay, Lead Optimization, and Antibody Drug Development which can be effectively integrated into value chain and operations. GenScript is the largest gene synthesis provider in the U.S. Their customers include top pharmaceutical companies, major biotech firms and research institutions in over 70 countries.

You can contact them at:

www.genscript.com

 

Types of Stem Cells

A brief look at the different types of Stem Cells and their comparisons. You can click on the image for a larger view

The ISSCR has published a large list of the various TYPES of stem cells, and it warrants a closer look at them to develop a deeper understanding of what they are.

1. Adult Stem Cells or Tissue-specific Stem Cells

Many adult tissues contain stem cells that can replace cells that die or restore tissue after injury. Skin, muscle, intestine and bone marrow, for example, each contain their own stem cells. In the bone marrow, billions of new blood cells are made every day from blood-forming stem cells.
Adult stem cells are tissue-specific, meaning they are found in a given tissue in our bodies and generate the mature cell types within that particular tissue or organ. It is not clear whether all organs, such as the heart, contain stem cells. The term ‘adult stem cells’ is often used very broadly and may include fetal and cord blood stem cells.
There are a few stem cell therapies that are widely accepted by the medical community and these use tissue-specific stem cells. These are bone marrow or cord blood stem cell transplantation to treat diseases and conditions of the blood or to restore the blood system after treatment for specific cancers, skin stem cell therapies for burns and limbal stem cells for corneal replacement. In each case, the stem cells repair the same tissue from which they came.
Another type of adult stem cell is the mesenchymal stem cell. These are found in a number of tissues, including bone marrow, and may be able to produce bone, cartilage and fat. It is also possible that these or similar cells may aid in the regeneration of tissues. Extensive animal studies are currently ongoing to determine if these cells may be used for treatment of diseases such as arthritis and non-healing bone fractures. It is also possible that these or similar cells modulate the immune system in response to injury.

2. Fetal Stem Cells

As their name suggests, fetal stem cells are taken from the fetus. The developing baby is referred to as a fetus from approximately 10 weeks of gestation. Most tissues in a fetus contain stem cells that drive the rapid growth and development of the organs. Like adult stem cells, fetal stem cells are generally tissue-specific, and generate the mature cell types within the particular tissue or organ in which they are found.

3. Cord Blood Stem Cells

At birth the blood in the umbilical cord is rich in blood-forming stem cells. The applications of cord blood are similar to those of adult bone marrow and are currently used to treat diseases and conditions of the blood or to restore the blood system after treatment for specific cancers. Like the stem cells in adult bone marrow, cord blood stem cells are tissue-specific.

4. Embryonic Stem Cells

Embryonic stem cells are derived from very early embryos and can in theory give rise to all cell types in the body. However, coaxing these cells to become a particular cell type in the laboratory is not trivial. Furthermore, embryonic stem cells carry the risk of transforming into cancerous tissue after transplantation. To be used in cell transplant treatments the cells will most likely need to be directed into a more mature cell type, both to be therapeutically effective and to minimize risk that cancers develop. While these cells are already helping us better understand diseases and hold enormous promise for future therapies, there are currently no treatments using embryonic stem cells accepted by the medical community.

5. Induced Pluripotent Stem Cells (iPS cells)

In 2006, scientists discovered how to “reprogram” cells with a specialized function (for example, skin cells) in the laboratory, so that they behave like an embryonic stem cell. These cells, called induced pluripotent cells or iPS cells, are created by inducing the specialized cells to express genes that are normally made in embryonic stem cells and that control how the cell functions. Embryonic stem cells and iPS cells share many characteristics, including the ability become the cells of all organs and tissues, but they are not identical and can sometimes behave slightly differently. IPS cells are a powerful method for creating patient- and disease-specific cell lines for research. However, the techniques used to make them need to be carefully refined before they can be used to generate iPS cells suitable for safe and effective therapies.

What are stem cells and why are they important?

Stem cells have two important characteristics that distinguish them from other types of cells.
First, they are unspecialized cells that renew themselves for long periods through cell division. The second is that under certain physiologic or experimental conditions, they can be induced to become cells with special functions such as the beating cells of the heart muscle or the insulin producing cells of the pancreas.

Scientists primarily work with two kinds of stem cells from animals and humans: embryonic stem cells and adult stem cells, which have different functions and characteristics that will be explained in this document. Scientists discovered ways to obtain or derive stem cells from early mouse embryos more than 20 years ago. Many years of detailed study of the biology of mouse stem cells led to the discovery, in
Stem Cell Information

Many years of detailed study of the biology of mouse stem cells led to the discovery, in 1998, of how to isolate stem cells from human embryos and grow the cells in the laboratory. These are called human embryonic stem cells. The embryos used in these studies were created for infertility purposes through in vitro fertilization procedures and when they were no longer needed for that purpose, they were donated for research with the informed consent of the donor.

Stem cells are important for living organisms for many reasons. In the 3- to 5-day-old embryo, called
a blastocyst, stem cells in developing tissues give rise to the multiple specialized cell types that make
up the heart, lung, skin, and other tissues. In some adult tissues, such as bone marrow, muscle, and
brain, discrete populations of adult stem cells generate replacements for cells that are lost through
normal wear and tear, injury, or disease.

It has been hypothesized by scientists that stem cells may, at some point in the future, become the basis
for treating diseases such as Parkinson's disease, diabetes, and heart disease. Scientists want to study stem cells in the laboratory so they can learn about their essential properties and what makes them different from specialized cell types. As scientists learn more about stem cells, it may become possible to use the cells not just in cell-based therapies, but also for screening new drugs and toxins and understanding birth defects.

However, as mentioned above, human embryonic stem cells have only been studied since 1998. Therefore, in order to develop such treatments scientists are intensively studying the fundamental properties of stem cells, which include:
1. determining precisely how stem cells remain unspecialized and self renewing for many years;
and
2. identifying the signals that cause stem cells to become specialized cells.

The International Society for Stem Cell Research lists out several types of Stem Cells. Look for that in our next post. 

Source: National Institutes of Health

Stem Cells - The Basics

Stem cells have the remarkable potential to develop into many different cell types in the body. Serving as a sort of repair system for the body, they can theoretically divide without limit to replenish other cells as long as the person or animal is still alive. When a stem cell divides, each new cell has the potential to either remain a stem cell or become another type of cell with a more specialized function, such as a muscle cell, a red blood cell, or a brain cell.

Research on stem cells is advancing knowledge about how an organism develops from a single cell and
how healthy cells replace damaged cells in adult organisms. This promising area of science is also
leading scientists to investigate the possibility of cell-based therapies to treat disease, which is often
referred to as regenerative or reparative medicine.

Stem cells are one of the most fascinating areas of biology today. But like many expanding fields of
scientific inquiry, research on stem cells raises scientific questions as rapidly as it generates new
discoveries.

We will take you dear readers through various topics related to Stem Cells to understand the answers to questions such as:
What are stem cells?
What different types of stem cells are there and where do they come from?
What is the potential for new medical treatments using stem cells?
What research is needed to make such treatments a reality?

Source: http://stemcells.nih.gov

Stem Cells and Everything you need to know

Dear Friends and Readers.

I've received several emails asking the blog to cover Stem Cells and it's uses and purposes. Over next few weeks, we'll be dedicating this section to All things Stem Cells related.

I also want to take this opportunity to thank you for your support on this blog and post taking it over in November 2011, I promise to take it to new levels and continue it's purpose of sharing and collaborating information regarding Synthetic Biology and Gene Synthesis.

Wishing everyone a Very very happy NEW YEAR!!

Thank You,
Morgan.