Genetics research sheds light on a long human relationship

A poison we adapted to tolerate

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Alcohol has been part of human existence for millennia. Alcoholic beverages are an integral part of human culture. Like the wines consumed in Jewish and Christian rituals, these drinks have ceremonial and religious uses. Until the nineteenth century, beer, brandy, rum or grog was the drink of choice for sailors in lieu of stagnant water during long voyages. Alcohol is a social lubricant, an anesthetic and an antiseptic. It is one of the most widely used drugs in the world and has been manufactured since the advent of agriculture nearly 9000 years ago. How is it that this drug an intoxicating poison has become such a part of human existence?

A new study finds that our forebears acquired the capacity to digest alcohol some 10 million years ago, among a common ancestor to humans, chimpanzees and gorillas, and certainly well before we learned to manufacture it. This suggests that alcohol became part of the human diet much earlier than previously thought, and in a manner that had significant implications for the survival of the human species.

Humans carry with them genetic signatures of their ancestral feeding habits. Genetic variants that make new food sources available can provide tremendous opportunities to those who possess them. The ability to consume milk, for example, is due to the lactase persistence variant of a gene which emerged around 7500 years ago among early Europeans. For those lacking the mutation, the lactose in milk is a mild poison, eliciting symptoms akin to those of dysentery. Similarly, the ability to digest alcohol may be a genetic signature of feeding pattern among human ancestors: this alcohol tolerance may have made it possible to eat over-ripe fruit that had fallen to the ground and begun to naturally ferment. Since few animals can tolerate alcohol, this would have provided our ancestors with an abundant food source for which there were few competitors. It may also have contributed to the move towards a terrestrial rather than arboreal existence.

The breakdown of alcohol after ingestion is a complex process that involves a number of different enzymes. Most of the alcohol that is ingested is broken down in the gut and liver. This study focused on the enzyme ADH4 because it is abundant in the gut and plays a major role in preventing ingested alcohol from entering the blood stream. ADH4 from human relatives as distant as the tree shrew were tested for their ability to digest alcohol. The form of ADH4 found in humans, gorillas and chimpanzees was found to be 40 fold more efficient at clearing alcohol than the form found in more primitive species. ADH4 also digests chemicals that plants produce in order to deter animals from feeding upon them. However, with the increase in ability to digest alcohol came a reduced ability to digest many of these other chemicals. This suggests that the food containing alcohol was more important.

While ADH4 is among the most important enzymes for the digestion of alcohol, it is not the only one. Another related enzyme, ADH3, also contributes to the breakdown of alcohol. Women typically have lower activity levels of this enzyme, leading them to have higher blood levels of alcohol then men after taking a high dose of alcohol. And ADH4 is not the only enzyme that may have helped humans adapt to the consumption of alcohol: a variant of a liver enzyme (ADH1B) with high activity in the breakdown of alcohol emerged among East Asian populations during the advent of rice cultivation, perhaps as an adaptation to rice fermentation. (Interestingly, other animals have adopted their own strategies: Using a different enzyme, a member of the tree shrew family is able to consume fermented nectar from palm tree flowers the equivalent of 10 -12 glasses of wine every day without obvious signs of intoxication.)

Because humans rely upon ADH4 as their primary means to digest alcohol, they are also susceptible to hangovers. ADH4 and similar enzymes digest alcohol by converting it into another chemical, acetaldehyde, which causes the skin flushing, headache and other symptoms of overindulgence. The modern consumption of alcohol has been characterized as an "evolutionary hangover," an adaptation to modest levels of alcohol in food sources which left humans prone to alcohol abuse once we learned how to manufacture it in highly concentrated forms. And, in fact, genetic variants of ADH4 have been linked to alcohol and drug dependence, although there are many other genes that may influence susceptibility to alcohol dependency. Regardless of the role ADH4 plays in alcohol addiction, its clear that our complex relationship with alcohol dates back millions of year, and began, in fact, before we were even human.

Robert Martone is a researcher working on neuro-oncology biomarker discovery and development. He lives and works in Memphis TN.

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Our Taste for Alcohol Goes Back Millions of Years

The newly identified gene is found in modern-day humans, Neandertals and Denisovans, but not in chimps

New research suggests that a single gene may be responsible for the large number of neurons found uniquely in the human brain. When this gene was inserted in the brain of a mouse embryo (shown here), it induced the formation of many more neurons (stained red). The extra neurons led to the formation of characteristic convolutions that the human brain uses to pack so much brain tissue into a small space (convolutions shown on the right). Credit: Marta Florio and Wieland B. Huttner, Max Planck Institute of Molecular Cell Biology and Genetics

A single gene may have paved the way for the rise of human intelligence by dramatically increasing the number of brain cells found in a key brain region.

This gene seems to be uniquely human: It is found in modern-day humans, Neanderthals and another branch of extinct humans called Denisovans, but not in chimpanzees.

By allowing the brain region called the neocortex to contain many more neurons, the tiny snippet of DNA may have laid the foundation for the human brain's massive expansion.

"It is so cool that one tiny gene alone may suffice to affect the phenotype of the stem cells, which contributed the most to the expansion of the neocortex," said study lead author Marta Florio, a doctoral candidate in molecular and cellular biology and genetics at the Max Planck Institute of Molecular Cell Biology and Genetics in Dresden, Germany. Still, it's likely this gene is just one of many genetic changes that make human cognition special, Florio said.

An expanding brain

The evolution from primitive apes to humans with complex language and culture has taken millions of years. Some 3.8 million ago, Australopithecus afarensis, the species typified by the iconic early human ancestor fossil Lucy, had a brain that was less than 30 cubic inches (500 cubic centimeters) in volume, or about a third the size of the modern human brain. By about 1.8 million years ago, Homo erectus was equipped with a brain that was roughly twice as big as that of Australopithecus. H. erectus also showed evidence of tool and fire use and more complex social groups.

Once anatomically modern humans, and their lost cousins the Neanderthals and Denisovans, arrived on the scene, the brain had expanded to roughly 85 cubic inches (1.4 liters) in volume. Most of this growth occurred in a brain region called the neocortex.

"The neocortex is so interesting because that's the seat of cognitive abilities, which, in a way, make us human like language and logical thinking," Florio told Live Science.

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"Big Brain" Gene Allowed for Evolutionary Expansion of Human Neocortex

Thousands of genetic "dimmer" switches, regions of DNA known as regulatory elements, were turned up high during human evolution in the developing cerebral cortex, according to new research from the Yale School of Medicine.

Unlike in rhesus monkeys and mice, these switches show increased activity in humans, where they may drive the expression of genes in the cerebral cortex, the region of the brain that is involved in conscious thought and language. This difference may explain why the structure and function of that part of the brain is so unique in humans compared to other mammals.

The research, led by James P. Noonan, Steven K. Reilly, and Jun Yin, is published March 6 in the journal Science.

In addition to creating a rich and detailed catalogue of human-specific changes in gene regulation, Noonan and his colleagues pinpointed several biological processes potentially guided by these regulatory elements that are crucial to human brain development.

"Building a more complex cortex likely involves several things: making more cells, modifying the functions of cortical areas, and changing the connections neurons make with each other. And the regulatory changes we found in humans are associated with those processes," said Noonan, associate professor of genetics, an investigator with the Kavli Institute for Neuroscience, and senior author of the study. "This likely involves evolutionary modifications to cellular proliferation, cortical patterning, and other developmental processes that are generally well conserved across many species."

Scientists have become adept at comparing the genomes of different species to identify the DNA sequence changes that underlie those differences. But many human genes are very similar to those of other primates, which suggests that changes in the way genes are regulated -- in addition to changes in the genes themselves -- is what sets human biology apart.

Up to this point, however, it has been very challenging to measure those changes and figure out their impact, especially in the developing brain. The Yale researchers took advantage of new experimental and computational tools to identify active regulatory elements -- those DNA sequences that switch genes on or off at specific times and in specific cell types -- directly in the human cortex and to study their biological effects.

First, Noonan and his colleagues mapped active regulatory elements in the human genome during the first 12 weeks of cortical development by searching for specific biochemical, or "epigenetic" modifications. They did the same in the developing brains of rhesus monkeys and mice, then compared the three maps to identify those elements that showed greater activity in the developing human brain. They found several thousand regulatory elements that showed increased activity in human.

Next, they wanted to know the biological impact of those regulatory changes. The team turned to BrainSpan, a freely available digital atlas of gene expression in the brain throughout the human lifespan. (BrainSpan was led by Kavli Institute member Nenad Sestan at Yale, with contributions from Noonan and Pasko Rakic, a co-author on this study.) They used those data to identify groups of genes that showed coordinated expression in the cerebral cortex. They then overlaid the regulatory changes they had found with these groups of genes and identified several biological processes associated with a surprisingly high number of regulatory changes in humans.

"While we often think of the human brain as a highly innovative structure, it's been surprising that so many of these regulatory elements seem to play a role in ancient processes important for building the cortex in all mammals, said first author Steven Reilly. "However, this is often a hallmark of evolution, tinkering with the tools available to produce new features and functions."

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Yale researchers map 'switches' that shaped the evolution of the human brain

VOL. 8 | NO. 11 | Saturday, March 07, 2015

An Arizona-based real estate firm has acquired a Memphis mini-storage facility for $3.8 million.

Phoenix-based AMERCO Real Estate Co. bought the American Mini Storage facility at 7399 U.S. 64 from 7399 US Highway 64 Holdings LLC, which is affiliated with Florida-based LNR Partners Inc., for $3.8 million, according to a Feb. 24 warranty deed.

Built in 1999, the mini-storage site sits on 5.2 acres on the south side of U.S. 64 between Appling Road and Dromedary Drive. The Shelby County Assessor of Propertys 2014 appraisal is $2.7 million.

Source: The Daily News Online & Chandler Reports

Amos Maki

Louisiana Governor and possible presidential candidate Bobby Jindal will speak to Shelby County Republicans next month as part of a leadership series of events for the Tennessee Republican Party.

Jindal is the keynote speaker at the March 20 party fundraiser at the Racquet Club of Memphis.

Jindal is considering a bid for the Republican presidential nomination in 2016.

The Tennessee Republican Party is hosting former Florida Gov. Jeb Bush, another political figure weighing his chances in 2016, at the March 30 Statesmans Dinner in Nashville, the state partys largest annual event and fundraiser.

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Adams Keegan Launches New Recruiting Division

Welcome and Introduction - Treating Disease with Sugars
Hudson Freeze, Ph.D. Director and Professor, Human Genetics Program Sanford-Burnham Medical Research Institute T. Denny Sanford Honorary Trustee Sanford-Burn...

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Welcome and Introduction - Treating Disease with Sugars - Video

March 3, 2015

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Brett Smith for redOrbit.com @ParkstBrett

Some of us might look like mom, but we all mostly take after dad at least genetically speaking.

A new study by a large team of American researchers has found that although we inherit our genetic makeup equally from both parents we use more DNA from our father than we do from our mother.

Published in the journalNature Genetics,the study focused on genetic mutations that make us who we are and included all mammals in its scope.

[STORY: The better the warrior, the more sex he has]

This is an exceptional new research finding that opens the door to an entirely new area of exploration in human genetics, said study author Fernando Pardo-Manuel de Villena, a professor of genetics at the University of North Carolina.

Imprinted genes

The studys findings could be applied to the study of genetic factors related to disease as researchers often dont consider if certain genetic expression comes from mothers or fathers. One of the studys results showed that inheriting a mutation has different consequences, depending on which parent it came from.

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We mostly use dad's genes, study finds

Bethesda, MD and Fort Washington, PA (PRWEB) March 02, 2015

The American Society of Human Genetics (ASHG) and ReachMD announced today the launch of Genetically Speaking, a series of audio interviews designed to educate healthcare professionals on the application of human genetics in disease prevention and management.

The series features peer-to-peer interviews conducted during the ASHG 2014 Annual Meeting and includes topics such as:

One of our primary goals at ASHG is to develop a healthcare workforce that is genetics-literate and capable of interpreting and applying information in clinical practice, said Joseph D. McInerney, MA, MS, Executive Vice President of ASHG. We are excited to team up with ReachMD to produce and deliver peer-to-peer programming to healthcare professionals nationwide.

Genetically Speaking is co-produced by ASHG and ReachMD and broadcast on ReachMDs integrated online, mobile, and on air content distribution network. Content is accessible both on demand and through 24/7 radio streaming on ReachMD, iHeartRadio, TuneIn, and iTunes digital platforms.

This series is an excellent addition to the ReachMD lineup, said Matt Birnholz, MD, Vice President and Medical Director of ReachMD. Our users love cutting-edge programming, and the scientific and medical experts on this series really showcase the latest research and the applications of genetics in disease prevention and management.

About the American Society of Human Genetics (ASHG) Founded in 1948, the American Society of Human Genetics is the primary professional membership organization for human genetics specialists worldwide. Its nearly 8,000 members include researchers, academicians, clinicians, laboratory practice professionals, genetic counselors, nurses, and others with an interest in human genetics. The Society serves scientists, health professionals, and the public by providing forums to: (1) share research results through the ASHG Annual Meeting and in The American Journal of Human Genetics; (2) advance genetic research by advocating for research support; (3) educate current and future genetics professionals, health care providers, advocates, policymakers, educators, students, and the public about all aspects of human genetics; and (4) promote genetic services and support responsible social and scientific policies. For more information, visit: http://www.ashg.org.

About ReachMD ReachMD is a multi-channel medical broadcasting company delivering education and information to healthcare professionals through an integrated online, mobile, and on air distribution network. Programming is delivered both on demand and through 24/7 streaming on ReachMD, iHeartRadio, TuneIn, and iTunes digital platforms. ReachMD has produced more than 8,000 medical broadcasts, making it the leading source of on air, online, and mobile medical education and information. More information can be found at http://www.ReachMD.com.

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American Society of Human Genetics (ASHG) and ReachMD Launch Series on Genetics and Genomics

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Newswise Philadelphia, March 2, 2015 Analyzing a puzzling multisystem disorder in three children, genetic experts have identified a new syndrome, shedding light on key biological processes during human development. The research also provides important information to help caregivers manage the disorder, and may offer clues to eventually treating it.

This syndrome illuminates a very important pathway in early human developmenta sort of master switch that controls many other genes, said study leader Ian D. Krantz, M.D., co-director of the Individualized Medical Genetics Center at The Childrens Hospital of Philadelphia (CHOP). Krantz, a medical geneticist, is an attending physician in CHOPs comprehensive human genetics program.

Krantz is the senior author of the study, published online today in Nature Genetics. His co-study leader is Katsuhiko Shirahige, Ph.D., of the Institute for Molecular and Cellular Biosciences, University of Tokyo, also the home institution of first author Kosuke Izumi.

The investigators named the disorder CHOPS syndrome, with the acronym representing a group of symptoms seen in the affected children: cognitive impairment and coarse facies (facial features), heart defects, obesity, pulmonary involvement, short stature and skeletal dysplasia (abnormal bone development).

The central research finding is that mutations in the gene AFF4 disrupt a crucial group of proteins called the super elongation complex (SEC). The SEC controls the transcription process by which DNA is copied into RNA, enabling genes to be expressed in a developing embryo. The timing of this biological process is tightly regulated, so anything that interferes with this timing can disturb normal development in a variety of ways.

Because the SEC involves such a crucial process in cell biology, it has long been a focus of study, particularly in cancer, said Krantz. CHOPS syndrome is the first example of a human developmental disorder caused by germline mutations in the SEC.

Originating in the embryo, germline mutations are passed along to every cell in a developing organism, with harmful effects in multiple organs and biological systems. The mutated AFF4 gene produces mutated proteins, which then accumulate and cause a cascade of abnormalities in other genes controlled by AFF4.

AFF4 has a critical role in human development, regulating so many other genes, said Krantz. When it is mutated, it can damage the heart and skeleton, and lead to intellectual disability, among other effects.

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New Genetic Syndrome Found, Arising From Errors in 'Master Switch' During Early Development

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BETHESDA, MD Over 1,500 scientists from 30 countries and 46 states will attend next week's 56th Annual Drosophila Research Conference organized by the Genetics Society of America (GSA), March 48 in Chicago, IL. The conference will feature close to 1,000 presentations (including 170 talks) describing cutting-edge research on genetics, developmental biology, cancer, stem cells, neurology, epigenetics, genetic disease, aging, immunity, behavior, drug discovery, and technology. It is the largest meeting in the world that brings together researchers who use the fruit fly Drosophila melanogaster to study biology.

Of special note are scientists whose achievements in genetics are being honored through awards and special lectures:

The fruit fly Drosophila melanogaster is one of the most versatile and widely used model organisms applied to the study of genetics, physiology, and evolution. Drosophila research has led to some of the most significant breakthroughs in our understanding of biology, including five Nobel prizes. It is an effective system for studying a range of human genetic diseases, ranging from cancer to diabetes to neurodegenerative disorders. Fruit flies are a valuable resource for biomedical research because of the efficiency and cost-effectiveness with which comprehensive, sensitive, and accurate biological data can be generated. Research presented at the Drosophila conference, like that at other GSA conferences, helps advance our fundamental understanding of living systems and provides crucial insight into human biology, health and disease.

The conference will take place at the Sheraton Chicago Hotel & Towers at 301 East North Water Street. The organizers include Gregory J. Beitel, PhD (Northwestern University), Michael Eisen (University of California, Berkeley; Howard Hughes Medical Institute), Marc Freeman (University of Massachusetts Medical School; Howard Hughes Medical Institute), and Ilaria Rebay (University of Chicago). For additional information, please see the conference website athttp://www.genetics-gsa.org/drosophila/2015/.

More information on the importance of Drosophila research: Fruit Flies in Biomedical Research. Michael F. Wangler, Shinya Yamamoto, and Hugo J. Bellen.GeneticsEarly online January 26, 2015

MediaEligibility: The 2015 Drosophila Research Conference is open to media representatives, including those frombona fide print, broadcast, radio, and online venues, and freelance writers on a verifiable assignment from an established news source. Please contactpress@genetics-gsa.orgfor information about complimentary press registration.

* * * About the Genetics Society of America (GSA) Founded in 1931, the Genetics Society of America (GSA) is the professional scientific society for genetics researchers and educators. The Societys more than 5,000 members worldwide work to deepen our understanding of the living world by advancing the field of genetics, from the molecular to the population level. GSA promotes research and fosters communication through a number of GSA-sponsored conferences including regular meetings that focus on particular model organisms. GSA publishes two peer-reviewed, peer-edited scholarly journals: GENETICS, which has published high quality original research across the breadth of the field since 1916, and G3: Genes|Genomes|Genetics, an open-access journal launched in 2011 to disseminate high quality foundational research in genetics and genomics. The Society also has a deep commitment to education and fostering the next generation of scholars in the field. For more information about GSA, please visit http://www.genetics-gsa.org.

9650 Rockville Pike | Bethesda, MD 20814 | 301.634.7300 | press@genetics-gsa.org | http://www.genetics-gsa.org

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Disease, Evolution, Neurology, and Drugs: Fruit Fly Research Continues to Teach Us About Human Biology

Human evolution questioned: 'Big brain gene found humans, not chimps'

A single gene may have paved the way for the rise of human intelligence by dramatically increasing the number of brain cells found in a key brain region.

This gene seems to be uniquely human: It is found in modern-day humans, Neanderthals and another branch of extinct humans called Denisovans, but not in chimpanzees.

By allowing the brain region called the neocortex to contain many more neurons, the tiny snippet of DNA may have laid the foundation for the human brain's massive expansion.

"It is so cool that one tiny gene alone may suffice to affect the phenotype of the stem cells, which contributed the most to the expansion of the neocortex," said study lead author Marta Florio, a doctoral candidate in molecular and cellular biology and genetics at the Max Planck Institute of Molecular Cell Biology and Genetics in Dresden, Germany.

Still, it's likely this gene is just one of many genetic changes that make human cognition special, Florio said.

An expanding brain

The evolution from primitive apes to humans with complex language and culture has taken millions of years.

Some 3.8 million ago, Australopithecus afarensis, the species typified by the iconic early human ancestor fossil Lucy, had a brain that was less than 30 cubic inches (500 cubic centimeters) in volume, or about a third the size of the modern human brain.

By about 1.8 million years ago, Homo erectus was equipped with a brain that was roughly twice as big as that of Australopithecus.

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Human evolution questioned: 'Big brain gene found humans, not chimps'

A single gene may have helped pave the way for the rise of human intelligence by dramatically increasing the number of neurons found in a key brain region.

This gene seems to be uniquely human: It is found in modern-day humans, Neanderthals and another branch of extinct humans called Denisovans, but not in chimpanzees.

By allowing the brain region called the neocortex to contain many more neurons, the tiny snippet of DNA may have laid the foundation for the human brain's massive expansion.

This embryonic mouse cerebral cortex was stained to identify cell nuclei (in blue) and a marker for deep-layer neurons (in red). The human-specific gene known as ARHGAP11B was selectively expressed in the right hemisphere: Note the folding of the neocortical surface.

"It is so cool that one tiny gene alone may suffice to affect the phenotype of the stem cells, which contributed the most to the expansion of the neocortex," said study lead author Marta Florio, a doctoral candidate in molecular and cellular biology and genetics at the Max Planck Institute of Molecular Cell Biology and Genetics in Dresden, Germany.

She and her colleagues found that the gene, called ARHGAP11B, is turned on and highly activated in the human neural progenitor cells, but isn't present at all in mouse cells. This tiny snippet of DNA, just 804 genetic bases long, was once part of a much longer gene. Somehow, this fragment was duplicated, and the duplicated fragment was inserted into the human genome.

In follow-up experiments, the team inserted and turned on this DNA snippet in the brains of mice. The mice with the gene insertion grew what looked like larger neocortex regions.

The researchers reviewed a wide variety of genomes from modern-day and extinct species confirming that Neanderthals and Denisovans had this gene, while chimpanzees and mice do not. That suggests that the gene emerged soon after humans split off from chimpanzees, and that it helped pave the way for the rapid expansion of the human brain.

Florio stressed that the gene is probably just one of many genetic changes that make human cognition special. [The Top 10 Things That Make Humans Special]

The gene was described in a paper published online Thursday by the journal Science.

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'Big Brain' Gene Found in Humans, But Not in Chimps

A better understanding of genetics role in mental illness will lead to better treatments, according to scientists who participated Thursday in the Massachusetts General Hospital Leadership Council for Psychiatrys ninth annual mental health symposium.

Scientists first identified genetic risk factors related to mental disorders about six years ago, said Dr. Jordan Smoller, director of the psychiatric and neurodevelopmental genetics unit in the hospitals Center for Human Genetics Research. Since then, nearly 200 genetic risk factors have been confirmed, Smoller said.

Genetic markers overlap in five disorders bipolar, schizophrenia, depression, attention deficit hyperactivity disorder and autism, Smoller said.

Were seeing some of these connections and the hope is (that) were going to be able to move towards a diagnostic system that is not simply based upon symptoms but on an understanding of the underlying mechanisms of mental illness, he said.

Another speaker, Dr. Sabine Wilhelm, chief of psychology, discussed body dysmorphic disorder.

About 2 percent of Americans have the condition, Wilhelm said. People with the disorder are preoccupied with a perceived flaw or flaws in their appearance. This intense focus on appearance is linked with an increased risk of depression and/or anxiety. People with the condition are 45 times more likely to commit suicide than the general population, she said.

High doses of serotonin reuptake inhibitors can help alleviate the disorder, though the medication takes at least six weeks to work, Wilheim said. That drug is often used in conjunction with cognitive behavior therapy designed to pull a patients focus away from the perceived flaw and to boost his or her self-esteem, she said.

Parents can help children avoid the disorder by communicating positive comments about their own bodies, Wilhelm said.

Dont make make major comments about wrinkles and scars, things like that, Wilhelm said. She urges parents to be careful how they talk to their kids about their looks.

It is important to compliment girls for their academic and athletic prowess, rather than focus on their physical beauty, she said.

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Symposium: Genetics role in mental illness key to better treatments

Baylor College of Medicine experts will give an update on the latest research and best practices in medical care for Marfan syndrome, a genetic disorder of connective tissue that affects the skeletal system, cardiovascular system, eyes, and skin, in a public forum Feb. 17at the Childrens Museum of Houston.

The forum will feature Dr. John Belmont, professor of molecular and human genetics at Baylor and a pediatric geneticist at Texas Childrens Hospital; Dr. Shaine Morris, assistant professor of pediatrics at Baylor and a pediatric cardiologist at Texas Childrens Hospital; Andi Lewis, a genetic counselor at Baylor and Texas Childrens Hospital; Judy Gibaldi, acting president and CEO of The Marfan Foundation and Rod Gray, a parent advocate.

The experts will discuss results of a recent large study, as well as best practices in medical care and resources regarding Marfan Syndrome.

Sponsored by Baylor and Texas Childrens, the event is part of the monthly Evening with Genetics lecture series organized by Baylors Department of Molecular and Human Genetics. The series offers current information regarding care, education and research about genetic disorders.

The program is free and open to the public. It will be held at 7 p.m. at the Childrens Museum of Houston, 1500 Binz, 77004. For more information, contact Susan Fernbach at 832-822-4280 or fernbach@bcm.edu or visit the registration page at http://www.bcm.edu/eveninggenetics. Registration is required.

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Marfan syndrome: medical care and research update focus of monthly genetic series

Menu 14 Review - Human Genetics
This video is a synopsis of chapter 14 and highlights the major topics: karyotypes, genetic diseases, pedigree analysis, sex-linked traits, and nondisjunction.

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Menu 14 Review - Human Genetics - Video

ALAMEDA, Calif.--(BUSINESS WIRE)--LifeMap Sciences, Inc. (LifeMap), a subsidiary of BioTime, Inc., announced today a commercial partnership agreement with Toldot Genetics, LTD (Toldot), a subsidiary of BATM Advanced Communications, Ltd. LifeMaps GeneCards Suite, comprised of the companys integrated biomedical knowledgebase and premium analysis tools, will optimize Toldots next generation sequencing (NGS) data analysis capabilities by powering its algorithm-based tools for assigning genetic variations derived from whole genome and exome sequencing, to clinical conditions in order to improve biomedical research. LifeMap will also promote Toldots products and offer them to its large user base of life scientists in academia, research hospitals, and biopharma.

LifeMap Sciences extensive integrated biomedical knowledgebase will further expand Toldots analysis systems in order to contribute to the ability to get the most of unprecedented quantities of gene-related data derived from NGS experiments, said Yaron Guan-Golan, Chief Marketing Officer of LifeMap Sciences. Our partnership with Toldot Genetics reflects the flexibility of our technology to enhance biomedical research and discovery.

We believe that combining LifeMaps comprehensive biomedical knowledgebase and advanced analysis tools with Toldots proven ability to extract the most relevant information out of large amounts of sequencing data will create the best NGS analysis package available on the market today, said Dvir Dahary, CEO of Toldot Genetics. This partnership will assist in the discovery of novel clinical and scientific insights.

LifeMaps cloud-based technology offers unlimited access to users who wish to use its integrated biomedical knowledgebase and premium tools VarElect and GeneAnalytics for NGS data analysis. The company is also offering partners who are developing and commercializing NGS analysis platforms access to its integrated knowledgebase and tools under various business arrangements.

Both VarElect and GeneAnalytics are part of LifeMap Sciences recently launched GeneCards Suite Premium Tools. The tools leverage the LifeMap integrated biomedical knowledgebase, which includesGeneCards, the leading human gene database, MalaCards, the human disease database, andLifeMap Discovery, the cells and tissues database. LifeMap holds the exclusive worldwide license to marketGeneCards,MalaCards, VarElect, GeneAnalytics and GenAlaCart from Yeda Research and Development Company Ltd., the commercial arm of the Weizmann Institute of Science.

About LifeMap Sciences, Inc.

LifeMap Sciences (www.lifemapsc.com) is a life sciences technology company that offers integrated, streamlined solutions that empower life scientists worldwide to conduct cutting edge basic, clinical, and applied biomedical research.LifeMaps products are used in more than 3,000 institutions including academia, research hospitals, patent offices, and leading biopharma. The companys primary product offering, the GeneCards Suite, is comprised of an integrated biomedical knowledgebase and premium tools that enable researchers to effectively navigate the universe of human genes, proteins, cells, biological pathways, diseases, and the relationships between them. The knowledgebase includes three key databases that integrate information from over 100 sources: GeneCards, the leading human gene database, MalaCards, the human disease database, and LifeMap Discovery, the cells and tissues database. The GeneCards Suite premium tools are a set of biomedical data analysis applications that leverage the GeneCards Suite knowledgebase for gene variant prioritization and RNAseq and microarray gene set analysis to deliver enhanced results, including from the unprecedented quantities of data derived from Next Generation Sequencing (NGS). The premium tools include VarElect, the NGS phenotyper,GeneAnalytics, a novel gene set analysis tool, and GeneALaCart, the GeneCards batch querying application. LifeMap Sciences intends to extend its offerings to the field of mobile health via its subsidiary,LifeMap Solutions, Inc. Operations worldwide are carried out from their offices in California, Massachusetts, New Jersey, Tel Aviv and Hong Kong. LifeMap is a subsidiary of BioTime, Inc.

About Toldot Genetics Ltd.

Toldot Genetics (www.toldot-dna.com) improves healthcare through the use of whole genome sequencing, developing and applying sophisticated algorithm-based tools and approaches to assign genetic variations to clinical conditions. Toldot provides geneticists and physicians with a complete analysis package of Exome sequencing data for identifying the causal mutations of rare genetic disorders. Pharma and BioTech companies use Toldot's services in their clinical pipelines, from the design and all the way to deep analysis of their sequencing data, exclusively tailored for the requirements of each project, incorporating gold-standard tools with in-house algorithms and software.

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LifeMap Sciences Partners with Toldot Genetics to Support Next Generation Sequencing Variant Analysis Commercialization

Injecting mouse embryos with a human DNA sequence leads to a marked increase in brain size -- and may provide insights into Alzheimer's.

Mouse embryo injected with HARE5. Gene actvity is stained blue. Duke University/Silver Lab

The human genetic code is very similar to the genetic code of our closest living relative -- the chimpanzee -- sharing around 95 percent. Of all the differences, however, one is particularly interesting: the human brain is a lot bigger than the brain of a chimp. The brain of a chimp weighs, on average, 384 grams, whereas a human brain is more than triple that, at 1,352 grams.

Although it's not brain size alone that accounts for human intelligence, it certainly plays a pretty important role -- and now, researchers at Duke University have identified the DNA sequence that may be responsible for that particular evolutionary deviation.

How? By using mouse embryos.

The DNA sequence, called HARE5, is a gene activity regulator shown to markedly increase the size of a mouse embryo's brain when injected into the embryo. Compared to a mouse embryo injected with chimpanzee HARE5, the mouse embryo's brain grew 12 percent larger.

"I think we've just scratched the surface, in terms of what we can gain from this sort of study," said Debra Silver, an assistant professor of molecular genetics and microbiology in the Duke University Medical School. "There are some other really compelling candidates that we found that may also lead us to a better understanding of the uniqueness of the human brain."

HARE5 is what is known as an "enhancer", belonging to a group called "human-accelerated regulatory enhancers", including HARE1 through to HARE6. Enhancers are short pieces of DNA inside every genome that control the activity of genes.

To locate the DNA that might influence brain development, the team screened databases of genomic data from humans and chimps, looking for enhancers expressed primarily in the brain tissue early in development, but that also differed between the two species. Of the 106 candidates, the HARE group were near to genes believed to be involved in brain development.

HARE5 was the strongest candidate -- it's located chromosomally near Frizzled8, a molecular pathway indicated in brain development and disease. The team also found that Frizzled8 and HARE5 make physical contact in brain tissue.

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Human DNA gives mice bigger brains

Chennai, February 22:

Geneticist Eric Steven Lander who pioneered the general principles for identifying human disease genes and their application to medicine will deliver a lecture in Chennai on Wednesday as part of the Cell Press-TNQ India Distinguished Lectureship Series 2015.

Lander will talk on The Human Genome and Beyond: A 35-year journey of genomic medicine, on February 25, at 6.00 pm at the Sir Mutha Venkatasubba Rao (Lady Andal) Auditorium. N Ram, Chairman and Publisher of The Hindu Group of publications will introduce the speaker, said a press release from the organisers.

Lander who was appointed by US President Barack Obama in 2008 to co chair the US Presidents Council of Advisors on Science and Technology is concurrently Professor of Biology at MIT and Professor of Systems at the Harvard Medical School.

The mathematician turned biologist turned geneticist was one of the principle leaders of the Human Genome Project which mapped the human genetic code between 1990 and 2003.

Cell Press, based in Cambridge, Massachusetts, is an imprint of Elsevier Press which publishes 31 highly cited journals. The Chennai-based TNQ delivers pre publishing services and publishing solutions.

(This article was published on February 22, 2015)

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Genetics guru to lecture in Chennai

By inserting bits of human DNA into mice, scientists were able to make their brains develop more rapidly and ultimately grow bigger in the womb. The study, published in Current Biology, suggests that the evolution of this gene may be one of the things that sets us apart from our close relatives in the primate world.

Human brains are unique, even when compared with our close genetic relatives, such as chimpanzees. Our brains are about three times heavier than those of our cousins, and are more complex and interconnected as well.

It's generally accepted that these neurological differences are what allowed us to evolve the higher brain function that other primates lack. But just what genetic changes allowed humans to surpass chimps in the brain arena is one that's still being answered.

There are a lot of physical differences to examine more closely, but size is such a dramatic one that the authors of the new study chose to start there.

Using databases developed by other labs, the Duke University scientists cross-checked areas of human DNA that had developed differences from chimp DNA with areas of DNA they expected to be important for gene regulation. Regulator genes help determine how other genes will express themselves, and the researchers suspected that some of these regulators might be making brain development more active in human embryos than in chimps.

They ended up focusing on a region called HARE5 (short for human-accelerated regulatory enhancer), which testing indicated had something to do with brain development. They suspected that the enhancer, which is found close to a molecular pathway important in brain development, might have changed in a way that influenced brain size in humans.

We discovered that the human DNA sequence, which only had 16 changes in it compared to the chimp sequence, was being expressed differently in mice, said study author Debra Silver, an assistant professor of molecular genetics and microbiology in the Duke University Medical School.

In fact, HARE5 was regulating how many neural stem cells the precursors of brain cells a mouse embryo could produce.

The human DNA was really able to accelerate the way the stem cells divide, Silver said. And as a result, the mice were able to produce more neurons.

The brains of these genetically modified mice grew 12 percent bigger than ones given the chimpanzee version of HARE5.

Originally posted here:

Gene making human brains bigger found

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Newswise Bethesda, MD, February 20, 2015:

The Association for Molecular Pathology (AMP), the premier global, non-profit organization serving molecular laboratory professionals today presented at the U.S. Food and Drug Administration public workshop, Optimizing FDAs Regulatory Oversight of Next Generation Sequencing Diagnostic Tests, outlining specific ways that FDA could best facilitate innovation of precision medicine. The purpose of the workshop is to discuss and receive feedback from the community on FDAs regulatory approach to diagnostic tests for human genetics or genomics using NGS technology.

A number of AMP members participated in the workshop today, including Roger D. Klein, MD, JD, Chair, AMP Professional Relations Committee who presented recommendations for FDAs role in assuring safe and effective NGS diagnostic tests. Our members are among the early adopters and users of next-generation sequencing (NGS) in a clinical setting, and have accumulated substantial knowledge and expertise as it relates to this novel and powerful technology, said Dr. Klein. On behalf of the many medical professionals who design, develop, perform, interpret, and communicate the results of clinical implications of these valuable diagnostic processes, we urge the FDA to consult with NGS experts and professional organizations in constructions of standards for NGS products.

AMPs oral comments emphasized four key points:

1. FDA can best contribute to patient care and public health by helping to ensure the performance characteristics of NGS products sold to customer laboratories. 2. FDA should partner with outside organizations and experts to set standards for FDA-cleared or approved products and to assist in development of recommendations and practice guidelines for clinical laboratories engaging in NGS testing. 3. The College of American Pathology (CAP), The American College of Medical Genetics and Genomics (ACMG), the Clinical Laboratory Standards Institute (CLSI), and other organizations have already produced laboratory accreditation requirements and practice guidelines that are used to ensure high-quality performance of NGS tests. 4. Although NGS represents a fairly new technology, the operational, validation and quality control procedures of the majority of medical NGS assays are extensions of those generally accepted for older technologies.

Furthermore, AMP points out that while they recommend FDA develop guidelines to safeguard proper performance of NGS products, they do not believe FDA has either the authority or the justification to regulate NGS beyond the instruments, software, test kits and reagents sold to customer laboratories. The interpretation and use of the genetic information derived from NGS diagnostic tests is at the heart of what we and ordering providers do, said Andrea Ferreira-Gonzalez, PhD, Chair of AMPs NGS Working Group. As these activities are central to the practice of medicine, they must remain outside the purview of FDA.

AMPs oral comments are available here: http://www.amp.org/advocacy/documents/AMPNGSMeetingcommentsFinalDraft.pdf

AMP plans to submit detailed written recommendations and comments to FDA on March 20, 2015.

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AMP Delivers Oral Comments at FDA Workshop on Optimizing Regulatory Oversight of Next Generation Sequencing Diagnostic ...

By inserting bits ofhuman DNAinto mice, scientists were able to make their brains develop more rapidly -- and ultimately grow bigger -- in the womb. The study, published Thursday in Current Biology, suggests that the evolution of thisgene may be one of the things that sets us apart from our close relatives in the primate world.

Human brains are unique, even when compared with our close genetic relatives, such as chimpanzees. Our brains are about three times heavier than those of our cousins, and are more complex and interconnected as well. It's generally accepted that these neurological differences are what allowed us to evolve the higher brain function that other primates lack. But just what genetic changes allowed humans to surpass chimps in the brain arena is one that's still being answered.

There are a lot of physical differences to examine more closely, but size is such a dramatic one that the authors of the new study chose to start there.

Using databases created by other labs, the Duke University scientists cross-checked areas of human DNA that had developed differences from chimp DNA with areas of DNA they expected to be important for gene regulation. Regulator genes help determine how other genes will express themselves, and the researchers suspected that some of these regulators might be making brain development more active in human embryos than in chimps.

They ended up focusing on a region called HARE5 (short for human-accelerated regulatory enhancer), which testing indicated had something to do with brain development. They suspected that the enhancer, which is found close to a molecular pathway important in brain development, might have changed in a way that influenced brain size in humans.

"We discovered that the human DNA sequence, which only had 16 changes in it compared to the chimp sequence, was being expressed differently in mice," said study authorDebra Silver, an assistant professor of molecular genetics and microbiology in the Duke University Medical School.

In fact, HARE5 was regulating how many neural stem cells -- the precursors of brain cells -- a mouse embryo could produce.

"The human DNA was really able to accelerate the way the stem cells divide," Silver said. "And as a result, the mice were able to produce more neurons."

The brains of these genetically modified mice grew 12 percent bigger than ones given the chimpanzee version of HARE5.

For humans, Silver said, this difference could be crucial. Humans and chimps have similar gestation periods, which are fairly long when compared with other species.

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Debra Silver comments: Scientists pinpoint a gene regulator that makes human brains bigger