Category Archives: Human Genetics

Janet Rowley (Cancer Genetics)
The following is an interview with Janet D. Rowley, MD, Blum-Riese Professor of Medicine and Human Genetics at The University of Chicago. The interview was conducted by her friend and colleague,.

By: Conversations in Genetics

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Janet Rowley (Cancer Genetics) - Video

Victor McKusick (Human Genetics)
The following is an interview with Victor A. McKusick, University Professor of Medical Genetics, Johns Hopkins University School of Medicine, Baltimore. The interview was conducted by his student,...

By: Conversations in Genetics

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Victor McKusick (Human Genetics) - Video

The Human Genetics Unit (HGU) of the Colombo Medicine Faculty together with John Keells Research (JKR), a unit established by John Keells Holdings to carryout futuristic scientific research, announced the successful sequencing of the entire genome of goda vee - an indigenous rice variety. This is the first time that such a feat in the field of science was achieved within the country in Sri Lanka.

Sequencing of goda vee was done in the only genome sequencing facility in Sri Lanka located at the HGU. Prof. Vajira H. W. Dissanayake, a member of the National Biotechnology Council of the Coordinating Secretariat for Science Technology and Innovation (COSTI) as well as the Biotechnology Committee of the National Science Foundation (NSF) said this is a unique milestone in the annals of science and technology in Sri Lanka.

We have proved that Sri Lanka now has the capability to protect and preserve our biodiversity within the country. This will also open opportunities for Sri Lanka to build a new wave of scientific enterprise based on local knowledge and innovation creating wealth for the country. That would in turn create new job opportunities for Sri Lankan science graduates, most of whom now leave the country or leave science and join other fields due to lack of scientific jobs.

John Keells Research Head Dr. Muditha D. Senarath Yapa said JKR is proud to be a part of this nationally important milestone which opens the door to many futuristic commercial applications. This proves the ability of Sri Lankan scientists to carryout groundbreaking research which can contribute to national development.

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JKH partners Colombo Unis HGU to sequence rice variety genome

Human Anatomy (Award Winning) Home Study Course
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By: Ken Dunn

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Human Anatomy (Award Winning) Home Study Course - Video

Human Genetics Research
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Human Genetics Research - Video

Escherichia coli at 10,000x magnification Roger Pickup, Professor of Environment and Human Health at Lancaster University for The Conversation 2015-03-10 20:45:46 UTC

We are all populated by microbes helpful or otherwise which form a community known as a microbiome. Recent research by Ryan Newton and co-workers has shown that sewage-based analysis of the human microbiome can be used to diagnose health issues at a population level.

Large-scale monitoring of human populations and their activities takes many forms, from satellite imagery to censuses, providing data that can inform future policies. At this scale, we can collect and store data to assess the health of a nation. Projects such as BiobankUK and the 100,000 genomes project aim to fully describe human genetics and health at the cellular and molecular level, whilst revealing information at an individual and population level. This will result in the creation of a UK disease map, possibly linked to genetic information and factors that significantly affect health.

These projects focus on the human genome yet we are not just human. Each of us is populated by microbes: bacteria, viruses, fungi and protozoa. Bacterial cells alone outnumber our own by a factor of 20. No one has estimated the number of viruses, but we expect between ten and a hundred times more than the bacteria. In the body, microbial genes outnumber human genes by a factor of 200.

We are now able to look not only at the numbers of microbes in the body, but can also find out what they are and determine their functions. DNA sequencing on very large scales indicates which bacteria dominate different environments and different processes. This sequencing defines the identity of the microbes. When targeted correctly, it can also define function at a molecular level. This is particularly useful in describing the human microbiome and its value to human health.

The microbes that form our microbiome provide protection against disease, top up our immune system, help metabolise our food into simpler more useful compounds and provide some essential nutrients such as vitamin K. The genetic profile of bacteria in faeces provides individual microbial fingerprints. This shows that the microbiome in all humans has a shared essential microbial function whilst having some variability in its microbial composition.

Gut microbes also vary with progressing age, dietary changes, disease states and across differing human populations. Changes in the diversity of the microbiome are associated with certain chronic illnesses such as inflammatory bowel disease. By looking at the microbial profiles of bacteria in the colon we can even show a difference between people with Crohn's disease and irritable bowel syndrome compared to people with ulcerative colitis.

This type of diagonistic analysis has now been taken a step further. Whilst recognising that faeces are a proxy for the gut microbiome within and among human population, Ryan Newton and co-workers examined sewage samples and compared them to human faecal samples. They showed that sewage effluent accurately reflects a composite faecal microbiome from human populations not only at an individual level but over different demographic scales city, country, or continent using 71 cities in the USA as a sampling ground.

Among the core set of organisms detected, significant variation was seen at a population level rather than at an individual level. This variation clustered into three primary community structures distinguished from different groups of microbes: Bacteroidaceae, Prevotellaceae, or Lachnospiraceae/Ruminococcaceae. These distribution patterns reflected human population variation and even predicted whether samples represented lean or obese populations with 81 to 89% accuracy.

So why not just observe the "fat and lean" by sitting at a busy railway station in disguise rather than extract the bacteria from sewage? Well, not everyone in the population will pass the detective's observation point but almost all will submit their sample to the sewer, to be subjected to sewage molecular "satellite" imagery. And sewage can be used to analyse many more health issues than simply the weight of the population.

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Sewage testing can predict obesity rates

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

IMAGE:Dr. Ian D. Krantz is the co-director of the Individualized Medical Genetics Center at The Children's Hospital of Philadelphia. view more

Credit: The Children's Hospital of Philadelphia

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 development--a 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 Children's Hospital of Philadelphia (CHOP). Krantz, a medical geneticist, is an attending physician in CHOP's 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, tied to errors in 'master switch' during early development

'Genetically Speaking' series showcases research findings, technological advances, and applications of human genetics in the evaluation, diagnosis, and treatment of health conditions

BETHESDA, MD and Fort Washington, PA - 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 ReachMD's 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."

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Link to 'Genetically Speaking': https://reachmd.com/programs/genetically-speaking/

Disclaimer: AAAS and EurekAlert! are not responsible for the accuracy of news releases posted to EurekAlert! by contributing institutions or for the use of any information through the EurekAlert system.

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ASHG and ReachMD launch educational series on genetics and genomics

Genetics research sheds light on a long human relationship

A poison we adapted to tolerate

Credit: Thinkstock

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