See on Scoop.it – inPharmatics
Read about why a Qualcomm Life executive says mobile health doesn’t yet have an Instagram, and why it eventually will.
See on www.medcitynews.com
Archive for the ‘Genetic medicine’ category
Why mHealth hasn’t created an Instagram (yet)
May 6th, 2012
Source:Marc A. Shuckit, MD Genetic
May 5th, 2012
03-05-2012 20:17 The University of New Mexico Department of Psychiatry presented Dr. Marc Schuckit, Distinguished Professor of Psychiatry at UC San Diego and world expert on Substance Abuse Disorders, for a free public lecture. Among his many projects, Dr. Schuckit has determined that low response to alcohol is genetically linked and is a risk factor for alcoholism. He has also found that people with low brain response to alcohol actually process information differently than those with a high response. He will discuss these and other important findings and how they interact with behavioral and environmental factors in alcohol problems. The lecture was at the Domenici Center on April 25th. IDEAS in Psychiatry is a nonprofit educational institute that provides useful, accurate and up-to-date scientific information about psychiatric illnesses, symptoms, and treatments. Our goal is to change the conversation — to encourage open, honest and informed discussion — so that those impacted by mental illness can seek effective help for themselves or their loved ones and so that professionals have the tools to deliver the best care possible.
The rest is here:
Marc A. Shuckit, MD Genetic
Naturally blond hair in Solomon Islanders rooted in native gene, Stanford study finds
May 5th, 2012
Public release date: 3-May-2012 [ | E-mail | Share ]
Contact: Rosanne Spector manishma@stanford.edu 650-725-5374 Stanford University Medical Center
STANFORD, Calif. The common occurrence of blond hair among the dark-skinned indigenous people of the Solomon Islands is due to a homegrown genetic variant distinct from the gene that leads to blond hair in Europeans, according to a new study from the Stanford University School of Medicine.
“This is one of the most beautiful examples to date of the mapping of a simple genetic trait in humans,” said David Reich, PhD, a professor of genetics at Harvard University, who was not involved in the study.
The study identifying the gene responsible for blond hair in the Solomon Islands, a nation in the South Pacific, represents a rare case of simple genetics determining human appearance, and shows the importance of including understudied populations in gene mapping studies, said co-senior author Carlos D. Bustamante, PhD, professor of genetics at Stanford. The findings will be published May 4 in Science.
“Since most studies in human genetics only include participants of European descent, we may be getting a very biased view of which genes and mutations influence the traits we investigate. Here, we sought to test whether one of the most striking human traits, blond hair, had the same or different genetic underpinning in different human populations,” Bustamante said.
Globally, blond hair is rare, occurring with substantial frequency only in northern Europe and in Oceania, which includes the Solomon Islands and its neighbors. “Its frequency is between 5 and 10 percent across the Solomon Islands, which is about the same as where I’m from,” said co-first author Eimear Kenny, PhD, who was born in Ireland.
Many assumed the blond hair of Melanesia was the result of gene flow a trait passed on by European explorers, traders and others who visited in the preceding centuries. The islanders themselves give several possible explanations for its presence, said co-senior author Sean Myles, PhD, a former Stanford postdoctoral scholar who is now an assistant professor at the Nova Scotia Agricultural College. They generally chalked it up to sun exposure, or a diet rich in fish, he said.
After researchers at UCSF generated genetic data from the samples, Kenny, a postdoctoral scholar in Bustamante’s lab, began the analysis in September 2010, the week she started at Stanford. “Within a week we had our initial result. It was such a striking signal pointing to a single gene a result you could hang your hat on. That rarely happens in science,” she said. “It was one of the best experiences of my career.”
In terms of genetic studies, the analysis was straightforward, said Kenny. But gathering the data, accomplished in 2009 by Myles and co-first author Nicholas Timpson, PhD, was more difficult. Much of the Solomon Islands is undeveloped, without roads, electricity or telephones. It’s also one of the most linguistically diverse nations in the world, with dozens of languages spoken.
Go here to see the original:
Naturally blond hair in Solomon Islanders rooted in native gene, Stanford study finds
Genetic pathway of rare facial malformation in children pinpointed
May 5th, 2012
ScienceDaily (May 3, 2012) Researchers at Seattle Children’s Research Institute and their collaborators have discovered a pair of defective genes that cause a rare congenital malformation syndrome that can make it impossible for the child to breathe or eat properly without reparative surgery. In a study led by Michael L. Cunningham, MD, PhD, medical director of the Seattle Children’s Hospital’s Craniofacial Center, a research team pinpointed two genes known as PLCB4 and GNAI3 in a genetic pathway that affects children with auriculocondylar syndrome (ACS). ACS is a rare disorder in which a child’s bottom jaw develops as an upper jaw and, in some cases, incorrectly fuses to the base of the skull.
As part of the study, the DNA of five children with similar facial features characteristic of ACS was sequenced. Cunningham and his colleague Mark J. Rieder, PhD (University of Washington) used exome sequencing, selectively sequencing those regions of the patients’ DNA believed to constitute the majority of disease-causing mutations. The study, to be published in the May edition of American Journal of Human Genetics, is one of the first genomic studies to identify causative mutations in two genes for the same disorder in the same pathway in a single analysis, Dr. Cunningham said.
While children with ACS have normal cognitive development, severe cases may require an immediate tracheostomy, feeding tubes, and ultimately extensive facial reconstructive surgery to allow them to eat and breathe properly.
“Although ACS is rare, our findings suggest that these genes may also play a role in more common disorders of the jaw and ears,” said Dr. Cunningham, who is also chief of the division of craniofacial medicine and professor of pediatrics in the Department of Pediatrics at the University of Washington School of Medicine. “It’s possible that more common jaw problems, like the lower jaw abnormality known as Robin sequence and other skull and facial abnormalities such as craniofacial microsomia, are also caused by genes in this pathway.”
ACS, a syndrome first described by scientists in 1978, is believed to affect less than one in 50,000 births, though the precise frequency is not known. It is not uncommon for the condition to be misdiagnosed or for diagnosis to be delayed. According to Dr. Cunningham it was the precision of case choice that allowed this discovery.
Of the five cases studied, two of the parents did not have this condition but were carriers for the mutation. “Now that we know the genetic pathway for ACS, we will be able to better identify and counsel people who have normal facial appearances but carry these genes, about the likelihood of passing on this mutation to their children,” Dr. Cunningham said.
Share this story on Facebook, Twitter, and Google:
Other social bookmarking and sharing tools:
Story Source:
The above story is reprinted from materials provided by Seattle Children’s.
Read the rest here:
Genetic pathway of rare facial malformation in children pinpointed
New genetic line of blond hair discovered
May 5th, 2012
MICHAEL FIELD/Fairfax NZ
BLOND BEAUTY: A Solomon Island boy displays his locks.
A new genetic line in blond hair has been discovered in an unlikely place – among the people of Melanesia in the Solomon Islands and Fiji.
The magazine Science reports today that scientists now realise that blond hair evolved independently at least twice in human history.
Around 10 per cent of Solomon Islanders had the blond gene, said study author Sean Myles, a geneticist at Nova Scotia Agricultural College in Truro, Canada.
Strikingly there was almost no variation in shades of blond hair.
“It looked pretty obvious to me that it was a real binary trait. You either had blond hair or you didn’t,” Myles told Science.
After testing 1209 Solomon Islanders scientists compared the entire genetic makeup of 43 blond and 42 dark-haired islanders.
The two groups, they found, had different versions of a crucial gene, TYRP1, one that coded for a protein involved in pigmentation. Switching one “letter” of genetic code – replacing a “C” with a “T” – meant the difference between dark hair and blond hair. A similar mutation creates blond mice by reducing the melanin content in their fur.
The gene was recessive, which meant that blonds inherited it from both parents.
Go here to see the original:
New genetic line of blond hair discovered
Blondeness In Solomon Islanders Due To Genetic Variations
May 5th, 2012
Excess sun exposure, a diet rich in fish, and gene inheritance from ancient explorers and traders, are all possible theories why some dark-skinned indigenous Solomon Islanders are naturally blonde, according to new research published today in the journal Science.
The study, led by Stanford University researchers, found that 5 to 10 percent of the indigenous Solomon population have a gene that is responsible for blondeness. The trait, however, is distinctly different from the gene that causes blond hair in Europeans. Their findings reveal a genetic variant which has led the islanders to have simultaneously the darkest skin pigmentation outside of Africa and the highest prevalence of blonde hair outside of Europe.
Previous studies have proven that pigmentation is largely genetic but also has evolved to adapt to the Suns ultraviolet rays with populations near the equator having the darkest skin and hair color. However, the native Solomon Islanders differ from this trend.
This is one of the most beautiful examples to date of the mapping of a simple genetic trait in humans, David Reich, PhD, a professor of genetics at Harvard University, who was not involved in the study, said in a Stanford press release.
The research, co-led by researchers at Stanford University and Dr. Nic Timpson from the University of Bristol, sought out to find why these islanders possess such strikingly dissimilar hair and skin patterning in the world.
For the study, the team took samples from a pool of more than 1,000 Melanesian participants, 43 of which had blonde hair and 42 of which had dark hair. They carried out genetic analyses on the samples to compare their genomes. The results showed that across the whole genome, one key gene area contained the gene variation TYRP1 responsible for cell differences that produce dark pigmentation.
TYRP1 is known to influence pigmentation in humans. But the researchers found the variant of TYRP1 that causes the blonde hair in Solomon Islanders is entirely absent from the genomes in Europeans.
Here you go into an unstudied population with a small sample size and you can really find some cool things, said study coauthor Carlos Bustamante, a geneticist at Stanford Universitys School of Medicine. So what about other places, like what about light pigmentation in parts of Africa? How do we not know the genetic basis of skin and hair pigmentations across the globe?
Naturally blonde hair is a surprisingly unusual trait in humans which is typically associated with people from Scandinavian and Northern European countries, said Timpson. Our findings help explain the fascinating differences in these physical characteristics, but also underline the importance of genetic mapping using isolated populations to help shed new light on the epidemiology of disease.
Many experts believed the blonde hair of Melanesia was the result of a trait passed on by Europeans who visited the islands centuries ago.
Read the original post:
Blondeness In Solomon Islanders Due To Genetic Variations
Nano nod for lab-on-a-chip
April 26th, 2012
The Domino technology uses a plastic chip that can perform 20 genetic tests from a single drop of blood.
You wouldn’t know it from appearances, but a metal cube the size of a toaster, created at the University of Alberta, is capable of performing the same genetic tests as most fully equipped modern laboratoriesand in a fraction of the time.
At its core is a small plastic chip developed with nanotechnology that holds the key to determining whether a patient is resistant to cancer drugs or has viruses like malaria. The chip can also pinpoint infectious diseases in a herd of cattle.
Talk about thinking outside the box.
Dubbed the Domino, the technologydeveloped by a U of A research teamhas the potential to revolutionize point-of-care medicine. The innovation has also earned Aquila Diagnostic Systems, the Edmonton-based nano startup that licensed the technology, a shot at $175,000 as a finalist for the TEC NanoVenturePrize award.
Were basically replacing millions of dollars of equipment that would be in a conventional, consolidated lab with something that costs pennies to produce and is field portable so you can take it where needed. Thats where this technology shines, said Jason Acker, an associate professor of laboratory medicine and pathology at the U of A and chief technology officer with Aquila.
The Domino employs polymerase chain reaction technology used to amplify and detect targeted sequences of DNA, but in a miniaturized form that fits on a plastic chip the size of two postage stamps. The chip contains 20 gel postseach the size of a pinheadcapable of identifying sequences of DNA with a single drop of blood.
This video is not supported by your browser at this time.
Thats the real value propositionbeing able to do multiple tests at the same time, Acker said, adding that the Domino has been used in several recently published studies, showing similar accuracy to centralized labs.
The Domino effect: Personalized medicine
View original post here:
Nano nod for lab-on-a-chip
Genetic variants, tobacco exposure and lung cancer risk
April 26th, 2012
Public release date: 25-Apr-2012 [ | E-mail | Share ]
Contact: Zachary Rathner Zachary.Rathner@oup.com 301-841-1286 Journal of the National Cancer Institute
There is an association between the rs1051730-rs16969968 genotype and objective measures of tobacco exposure, which indicates that lung cancer risk is largely, if not entirely, mediated by level of tobacco exposure, according to a study published April 25 in the Journal of the National Cancer Institute.
The rs1051730-rs16969968 genotype is known to be associated with heaviness of smoking, lung cancer risk, and other smoking-related outcomes. Prior studies have generally depended on self-reported smoking behavior, which may have underestimated associations and masked the contribution of heaviness of smoking to the associations of these polymorphisms with lung cancer and other health outcomes.
In order to determine the association between the rs1051730-rs16969968 genotype and self-reported cigarette consumption and plasma or serum cotinine levels, Marcus R. Munaf, Ph.D., of the School of Experimental Psychology at the University of Bristol and colleagues, examined data from six independent studies that looked at self-reported daily cigarette consumption and plasma or serum cotinine levels among cigarette smokers and conducted a meta-analysis of pooled per-allele effects. In addition, the researchers looked at the link between the genotypes and lung cancer risk using published data on the association between cotinine levels and lung cancer risk.
The researchers found that the rs1051730-rs16969968 genotype is strongly associated with tobacco exposure measured through cotinine levels, and that the association is strong even after adjustment for self-reported cigarette consumption. “These data therefore support the conclusion that association of rs1051730-rs16969968 genotype with lung cancer risk is mediated largely, if not wholly, via tobacco exposure,” the researchers write.
The researchers point out certain limitations of the study, however, namely that the data were drawn from disparate studies from various populations. The data also relies on current smoking measures, rather than lifetime exposure, which is more strongly associated with lung cancer risk.
However, they have confidence in their results, which show that phenotype precision is important to uphold in GWAS studies, rather than ever-larger sample sizes, they say. “The use of objective measures of smoking behavior in genome-wide studies may reveal novel variants associated with these outcomes, which would be undetectable using conventional self-report measures.”
In an accompanying editorial, Margaret R. Spitz, M.D., MPH, of the Department of Molecular and Cellular Biology at the Dan L. Duncan Cancer Center at Baylor College of Medicine, writes that these findings “confirm that cigarettes per day is an imprecise measure of nicotine consumption, and favor the interpretation that the association between these variants and lung cancer is mediated by smoking. But the degree to which the association is mediated by smoking is yet to be determined.” They add that more studies, including mouse and cellular models, along with emerging metabolic markers, “may help tease apart the direct and indirect associations of these variants with lung cancer risk.”
###
Visit link:
Genetic variants, tobacco exposure and lung cancer risk
Dr. Derek Wildman Completes Genome Sequence of Great Ape Living With Humans
April 21st, 2012DETROIT, April 20, 2012 /PRNewswire-USNewswire/ — A Wayne State University School of Medicine researcher is one step closer to understanding the genetic basis that enable bonobos, one of humankind's sibling species, to learn language, play music and use rudimentary tools.
See more here:
Dr. Derek Wildman Completes Genome Sequence of Great Ape Living With Humans
In Brief This Week: Fluidigm; Gen-Probe; Arrayit; LGC Genomics; ACMG Foundation for Genetic and Genomic Medicine
April 21st, 2012
Fluidigm has tapped Dan Clutter as North American sales director for its eastern sales region. He will be responsible for sales growth in the eastern US and Canada and will be a member of Fluidigm’s North American commercial leadership team, according to a spokesperson. Clutter joins Fluidigm from Gentel Biosciences, where he had served as vice president of commercial development since 2009. Before that, he was vice president of sales at NimbleGen Systems, now Roche NimbleGen.
Knome has added some new faces to its executive team, naming Jay Therrien as senior VP and head of global sales, Charles Abdalian as chief financial officer, and Adam Rosenberg as senior VP and head of corporate development.
Therrien was VP of commercial operations and sequencing at Life Technologies, and also had spent five years in various sales leadership roles at Illumina. Abdalian recently was senior VP and CFO of Molecular Insight Pharmaceuticals, and he was senior VP of finance and CFO at Coley Pharmaceutical. Rosenberg previously was an adviser for emerging life sciences companies, co-founder of Clean Membranes, and CEO of Link Medicine.
The company also has appointed Hugh Reinhoff to serve on its scientific advisory board. Reinhoff is currently a managing director of Life Science Venture Partners, an adjunct scientist at the Children’s Hospital Oakland Research Institute, and CEO of FerroKin BioSciences.
Originally posted here:
In Brief This Week: Fluidigm; Gen-Probe; Arrayit; LGC Genomics; ACMG Foundation for Genetic and Genomic Medicine
Researchers Create Synthetic DNA/RNA That Can Evolve
April 21st, 2012
Researchers have created artificial genetic material known as Xenonucleic acids, or XNAs, that can store information and evolve over generations in a comparable way to DNA.
The research, reported Friday in the journal Science, has implications for the fields of molecular medicine and biotechnology, and sheds new light on how molecules first replicated and assembled into life billions of years ago.
Living systems owe their existence to the information-carrying molecules DNA and RNA. These fundamental chemical forms have two features essential for life: they display heredity, meaning they can encode and pass on genetic information, and they can adapt over time.
Whether these traits could be performed by molecules other than DNA and RNA has been a long-debated issue.
For the current study, an international team of researchers developed chemical procedures to convert DNA and RNA into six genetic polymers known as XNAs. The process switches the deoxyribose and ribose (the d and r in DNA and RNA) for other molecules.
The researchers demonstrated for the first time that all six XNAs could form a double helix with DNA, and were more stable than natural genetic material. Moreover, one of these XNAs, a molecule known as anhydrohexitol nucleic acid, or HNA, was capable of undergoing directed evolution and folding into biologically useful forms.
Philipp Holliger of MRC Laboratory of Molecular Biology in Cambridge, the studys senior author, said the work demonstrated that heredity and evolution were possible using alternatives to natural genetic material.
There is nothing Goldilocks about DNA and RNA, he told Science.
There is no overwhelming functional imperative for genetic systems or biology to be based on these two nucleic acids.
Both RNA and DNA embed data in their sequences of four nucleotides. This information is vital for conferring hereditary traits and for supplying the coded recipe essential for building proteins from the 20 naturally occurring amino acids. However, precisely how and when this system began remains one of the most perplexing and hotly contested areas of biology.
View post:
Researchers Create Synthetic DNA/RNA That Can Evolve
Microsoft Lync Pilot Aids AstraZeneca Sales Rep, Researcher Collaboration – Health Care IT – News & Reviews – eWeek.com – eWeek Mobile
April 15th, 2012Via Scoop.it – inPharmatics
Biopharmaceutical vendor AstraZeneca has launched a unified communications pilot using Microsoft Lync to improve collaboration among pharmaceutical sales reps, doctors and researchers.
Via mobile.eweek.com
Source:Obese Kids: Genes, Junk Food Share Blame
April 10th, 2012
Common childhood obesity — the kind we usually blame on overindulgence and inactivity — also has a genetic component, an international collaboration of researchers has concluded.
Using genome-wide association techniques, the researchers showed that several genetic variants associated with adult obesity are also active in childhood obesity, according to Struan Grant of the Children’s Hospital of Philadelphia and colleagues.
As well, the analysis found two new genetic variants that had not been previously associated with obesity, Struan and colleagues reported online in Nature Genetics.
The findings show that “there is indeed a genetic signature of childhood obesity,” Grant told MedPage Today. “It’s not purely lifestyle.”
But he noted that human genetics have not changed in the past few decades, during which childhood obesity has increased markedly, implying that the well-known environmental suspects of fast food and sedentary lifestyle also play a role.
One of the next steps for the researchers, Grant said, is to try to “tease out the gene-environment interaction.”
Read this story on www.medpagetoday.com.
While the findings increase scientific knowledge about obesity, the clinical picture is unchanged, commented Keith-Thomas Ayoob of Albert Einstein College of Medicine in New York City, who was not part of the study.
“We may know more about childhood obesity, but until there’s a magic bullet, the treatment will be the same,” Ayoob said in an email to ABC News/MedPage Today. “Kids still need to have better diets and they really need to be more active.”
Several genetic variants have been linked to adult obesity and a genetic underpinning is known for several syndromes that involve obesity, the researchers noted.
Continued here:
Obese Kids: Genes, Junk Food Share Blame
Two Genetic Deletions in Human Genome Linked to the Development of Aggressive Prostate Cancer
April 10th, 2012
Discovery of Inherited-Genetic Variations May Help Assess a Patient’s Risk of Life-Threatening Disease Before it Strikes
Newswise NEW YORK (April 9, 2012 ) — An international research team led by Weill Cornell Medical College investigators have discovered two inherited-genetic deletions in the human genome linked to development of aggressive prostate cancer. The findings, published online today in the Proceedings of the National Academy of Sciences (PNAS), indicate a man’s risk of developing prostate cancer either triples or quadruples, depending on the genetic variant they inherit.
In the study, one genetic deletion is shown to affect the functioning of a known gene, while the other, found in a non-coding area of the genome once considered to be “junk DNA,” seems to be regulating a cascade of genes. According to the lead co-authors, the study is potentially groundbreaking because it demonstrates that so-called copy number variations (CNVs) in either protein coding or non-coding areas of the human genome play a significant role in the development of cancer in general, and in aggressive prostate cancer, specifically.
“We used to think that only genes that made proteins were responsible for disease, but this study shows us that there is inherited information in the non-coding areas of the genome that appear to play a strong role in development of cancer,” says study co-author, Dr. Mark A. Rubin, the Homer T. Hirst Professor of Oncology in Pathology at Weill Cornell Medical College. Other researchers have linked CNVs to Alzheimer’s and Parkinson’s disease, mental retardation, autism, schizophrenia and neuroblastoma, a type of brain cancer. “This study suggests there are other cancers that might be associated with CNVs,” says Dr. Rubin. “It’s an exciting new field of research.”
“The study shows that copy number variations matter in cancer,” says co-lead investigator, Dr. Francesca Demichelis, who is now an Assistant Professor at the Center of Integrative Biology at the University of Trento in Italy and an Adjunct Assistant Professor in the Institute for Computational Biomedicine at Weill Cornell Medical College.
The two genetic variants identified by the research team are not the only cause of aggressive prostate cancer, Dr. Demichelis says. “These variants likely collaborate with other factors early in a man’s life leading to development of prostate cancer.”
Prostate cancer affects one in six men during their lifetime, and family history is the strongest risk factor for prostate cancer. Because of the inheritable nature of the disease, for the study Weill Cornell researchers hunted to find DNA that is either significantly deleted or duplicated in the genome of patients with prostate cancer to compare it to men without the disease.
In this collaboration between Weill Cornell Medical College, the Brigham and Women’s Hospital and Innsbruck University Hospital, researchers examined blood samples from a population of men from the Tyrol Early Prostate Cancer Detection Program in Austria. Since 1993, this program has been aggressively screening men, age 45-75, who live in the Tyrol region with prostate specific antigen (PSA) in order to detect prostate cancer as early as possible. The population includes men who developed prostate cancer as well as men with elevated PSA who have no prostate cancer based on a biopsy. In addition, researchers looked at the germline variation in these patients to see if there is a risk factor as to why some men with elevated PSA have prostate cancer and some men do not.
Molecular studies were performed in the U.S. on more than 1900 blood samples from Tyrolean men (867 unrelated cancer patients and 1,036 controls). Researchers discovered two CNVs that were significantly different between Tyrolean individuals with aggressive prostate cancer and those without cancer, and then reproduced that finding in another group of 800 U.S. patients. The researchers then tested the effect of the two variants in laboratory cells and discovered they increase the ability of cancer cells to grow and to invade.
Both of these variants are small deletions in DNA that lead to over-expression of genes, Dr. Demichelis says. She and her colleagues found that one gene that is over-expressed due to the variant deletion is MGAT4C, which leads to the ability of cells to grow and migrate. “A man with the variant is four times more likely to develop prostate cancer if he inherited this variant than if he did not,” Dr. Demichelis says. “Interestingly, MGAT4C was found to be significantly over-expressed in metastatic versus localized prostate cancer,” she adds.
See the original post here:
Two Genetic Deletions in Human Genome Linked to the Development of Aggressive Prostate Cancer
KLF15 gene governs the body's ability to burn fat during exercise
April 10th, 2012
While exercise is accepted universally as the most beneficial prescription physicians can write for patients, little is known about the molecular mechanisms that generate its widespread health benefits. Researchers from Case Western Reserve School of Medicine have shed light on this mystery by discovering that a genetic factor, Kruppel-like Factor 15 (KLF15), governs the body’s ability to burn fat during exercise.
Previous research from the laboratory of Mukesh Jain, MD, FAHA, identified the importance of KLF15 in the metabolism of two of the three basic nutrients used by the human body: sugar and protein. The most recent discovery of the essential role for the gene in the metabolism of the third nutrient, fat, completes the trilogy. Ultimately, research has uncovered that KLF15 drives the ability of our body’s working muscles to increase their capacity to burn fat and generate force.
After screening all 17 members of the Kuppel-like family of genes for changes that correlated with altered metabolism, the investigators found that KLF15 levels dramatically increased in the skeletal muscle of mice during exercise. This observation led the study’s senior author, Dr. Jain, professor of medicine, Ellery Sedgwick Jr. Chair, and director, Case Cardiovascular Research Institute at Case Western Reserve School of Medicine and the chief research officer, Harrington Heart & Vascular Institute at University Hospitals Case Medical Center, to partner with world-class human physiologists from Deakin University in Australia to study KLF15 levels of healthy human patients before and after aerobic exercise. They found an increase in KLF15 levels in humans during exercise that matched the percentage increase seen in the mouse models, which was two to three times the normal level. Their study is published in the journal Proceedings of the National Academy of Sciences.
“This finding, coupled with the others from our group, puts KLF15 in a very powerful metabolic position. It’s a unique factor at the nexus of the body’s core processes,” says lead author Saptarsi M. Haldar, MD, assistant professor of medicine, Case Western Reserve University School of Medicine and cardiologist, Harrington Heart & Vascular Institute at University Hospitals Case Medical Center.
Read more from the original source:
KLF15 gene governs the body's ability to burn fat during exercise
New 'genetic bar code' technique establishes ability to derive DNA information from RNA
April 10th, 2012
ScienceDaily (Apr. 8, 2012) Researchers from Mount Sinai School of Medicine have developed a method to derive enough DNA information from non-DNA sources — such as RNA — to clearly identify individuals whose biological data are stored in massive research repositories. The approach may raise questions regarding the ability to protect individual identity when high-dimensional data are collected for research purposes.
A paper introducing the technique appears in the April 8 online edition of Nature Genetics.
DNA contains the genetic instructions used in the development and functioning of every living cell. RNA acts as a messenger that relays genetic information in the cell so that the great majority of processes needed for tissue to function properly can be carried out.
To date, access to databases with DNA information has been restricted and protected as it has long been considered the sole genetic fingerprint for every individual. However, vast amounts of RNA data have been made publicly available via a number of databases in the United States and Europe. These databases contain thousands of genomic studies from around the world.
In this study, lead authors Eric E. Schadt, PhD, and Ke Hao, PhD, developed a technique whereby a person’s DNA could be inferred from RNA data using gene-expression levels monitored in any of a number of tissues. In contrast, most studies involving DNA and RNA begin with DNA sequences and then seek to associate expression patterns with changes in DNA between individuals in a population. This is the first time going from RNA levels to DNA sequence has been described.
“By observing RNA levels in a given tissue, we can infer a genotypic barcode that uniquely tags an individual in ways that enables matching the individual to an independently derived DNA sample,” said Dr. Schadt, Director of the Institute for Genomics and Multiscale Biology, the Jean C. and James W. Crystal Professor of Genomics, and Chair of the Department of Genetics and Genomics Sciences, Mount Sinai School of Medicine. “The potential uses for this information are significant. Not only can genotypic barcodes be deduced from RNA, but RNA levels in some tissue can inform not only individual characteristics like age and sex, but on diseases such as Alzheimer’s and cancer, as well as the risks of developing those diseases.”
Schadt adds, “The significance of our findings goes beyond medicine. For example, barcodes derived from individuals who participated in a research study, where RNA levels were monitored and deposited into publicly available data bases, could be tested against DNA samples left at a crime scene as a way of identifying persons of interest.”
Deducing a person’s DNA sequence from gene expression patterns could have repercussions in health care and privacy. While specific laws and government regulations have been written to protect DNA-based information from misuse, it is unclear whether such laws apply to RNA — even though this study shows that RNA is informative at a deeper level compared to DNA regarding the current state of health of an individual.
“Rather than developing ways to further protect an individual’s privacy given the ability to collect mountains of information on him or her, we would be better served by a society that accepts the fact that new types of high-dimensional data reflect deeply on who we are,” Dr. Schadt said. “We need to accept the reality that it is difficult — if not impossible — to shield personal information from others. It is akin to trying to protect privacy regarding appearances, for example, in a public place.”
Dr. Schadt said he hopes the research will catalyze a discussion that might ultimately help resolve privacy debates, and encourage patients to provide data that will help their doctors better diagnose and treat their conditions. Increased access to, and greater quantities of, DNA and other biological information would also contribute to the greater good of medical science.
See the rest here:
New 'genetic bar code' technique establishes ability to derive DNA information from RNA
2 genetic deletions in human genome linked to the development of aggressive prostate cancer
April 10th, 2012
Public release date: 9-Apr-2012 [ | E-mail | Share ]
Contact: Lauren Woods law2014@med.cornell.edu 212-821-0560 New York- Presbyterian Hospital/Weill Cornell Medical Center/Weill Cornell Medical College
NEW YORK (April 9, 2012 ) — An international research team led by Weill Cornell Medical College investigators have discovered two inherited-genetic deletions in the human genome linked to development of aggressive prostate cancer. The findings, published online today in the Proceedings of the National Academy of Sciences (PNAS), indicate a man’s risk of developing prostate cancer either triples or quadruples, depending on the genetic variant they inherit.
In the study, one genetic deletion is shown to affect the functioning of a known gene, while the other, found in a non-coding area of the genome once considered to be “junk DNA,” seems to be regulating a cascade of genes. According to the lead co-authors, the study is potentially groundbreaking because it demonstrates that so-called copy number variations (CNVs) in either protein coding or non-coding areas of the human genome play a significant role in the development of cancer in general, and in aggressive prostate cancer, specifically.
“We used to think that only genes that made proteins were responsible for disease, but this study shows us that there is inherited information in the non-coding areas of the genome that appear to play a strong role in development of cancer,” says study co-author, Dr. Mark A. Rubin, the Homer T. Hirst Professor of Oncology in Pathology at Weill Cornell Medical College. Other researchers have linked CNVs to Alzheimer’s and Parkinson’s disease, mental retardation, autism, schizophrenia and neuroblastoma, a type of brain cancer. “This study suggests there are other cancers that might be associated with CNVs,” says Dr. Rubin. “It’s an exciting new field of research.”
“The study shows that copy number variations matter in cancer,” says co-lead investigator, Dr. Francesca Demichelis, who is now an Assistant Professor at the Center of Integrative Biology at the University of Trento in Italy and an Adjunct Assistant Professor in the Institute for Computational Biomedicine at Weill Cornell Medical College.
The two genetic variants identified by the research team are not the only cause of aggressive prostate cancer, Dr. Demichelis says. “These variants likely collaborate with other factors early in a man’s life leading to development of prostate cancer.”
Prostate cancer affects one in six men during their lifetime, and family history is the strongest risk factor for prostate cancer. Because of the inheritable nature of the disease, for the study Weill Cornell researchers hunted to find DNA that is either significantly deleted or duplicated in the genome of patients with prostate cancer to compare it to men without the disease.
In this collaboration between Weill Cornell Medical College, the Brigham and Women’s Hospital and Innsbruck University Hospital, researchers examined blood samples from a population of men from the Tyrol Early Prostate Cancer Detection Program in Austria. Since 1993, this program has been aggressively screening men, age 45-75, who live in the Tyrol region with prostate specific antigen (PSA) in order to detect prostate cancer as early as possible. The population includes men who developed prostate cancer as well as men with elevated PSA who have no prostate cancer based on a biopsy. In addition, researchers looked at the germline variation in these patients to see if there is a risk factor as to why some men with elevated PSA have prostate cancer and some men do not.
Molecular studies were performed in the U.S. on more than 1900 blood samples from Tyrolean men (867 unrelated cancer patients and 1,036 controls). Researchers discovered two CNVs that were significantly different between Tyrolean individuals with aggressive prostate cancer and those without cancer, and then reproduced that finding in another group of 800 U.S. patients. The researchers then tested the effect of the two variants in laboratory cells and discovered they increase the ability of cancer cells to grow and to invade.
Go here to read the rest:
2 genetic deletions in human genome linked to the development of aggressive prostate cancer
Personalized Gene Medicine
| Mesenchymal Stem Cells
| Stem Cell Treatment for Multiple Sclerosis
| Stem Cell Treatments
| Board Certified Stem Cell Doctors
| Stem Cell Medicine
| Personalized Stem Cells Therapy
| Stem Cell Therapy TV
| Individual Stem Cell Therapy
| Stem Cell Therapy Updates
| MD Supervised Stem Cell Therapy
| IPS Stem Cell Org
| IPS Stem Cell Net
| Genetic Medicine
| Gene Medicine
| Longevity Medicine
| Immortality Medicine
| Nano Medicine
| Gene Therapy MD
| Individual Gene Therapy
| Affordable Stem Cell Therapy
| Affordable Stem Cells
| Stem Cells Research
| Stem Cell Breaking Research
