The US adolescents who signed up for the Study of Mathematically Precocious Youth (SMPY) in the 1970s were the smartest of the smart, with mathematical and verbal-reasoning skills within the top 1% of the population. Now, researchers at BGI (formerly the Beijing Genomics Institute) in Shenzhen, China, the largest gene-sequencing facility in the world, are searching for the quirks of DNA that may contribute to such gifts. Plunging into an area that is littered with failures and riven with controversy, the researchers are scouring the genomes of 1,600 of these high-fliers in an ambitious project to find the first common genetic variants associated with human intelligence.
Read the full article in Nature here
An international team of genetic scientists has completed the genomic sequence of the Tibetan antelope (Pantholops hodgsonii), a native of the high mountain steppes and semi-desert areas of the Tibetan plateau. The scientists have decoded the genome of Tibetan antelope and studied the underlying genetic mechanism of high-altitude adaptations (it can live at elevations of 2.5 – 3.1 miles).
“The completed genome sequence of the Tibetan antelope provides a more complete blueprint for researchers to study the genetic mechanisms of highland adaptation,” explained Dr Qingle Cai from the BGI-Shenzhen, co-author of the study published in Nature Communications. This work may also open a new way to understand the adaptation of the low partial pressure of oxygen in human activities.”
Read the full article here
[Plenary Lecture given on *May 27, 2012* at the Canadian Society for the History of Medicine Annual Conference, University of Waterloo]
Monica Green, an Arizona State University professor known as “the foremost authority on medicine in the Middle Ages,” examines how her field has changed in recent years. In 2001, two genetic breakthroughs were made – the entire genomes for both plague
(Yersinia pestis) and leprosy (Mycobacterium leprae) were sequenced.
Microbiology/genetic analyses have so far proven to be very beneficial at answering some questions, such as: What was the disease?; How old is the disease?; Where did it come from? Paleopathology (the study of old bones) is a bigger factor in the determining the history of leprosy – this science is often not good at certain diseases, but for leprosy it is very good at finding lesions, such as at nasal cavity. Our generic understanding of leprosy has allowed us to identify the oldest DNA in an individual, a skeleton from Uzbeckistan that is dated between 1st to 4th century AD. The disease’s organism is now thought to several million years old, and the organism has stopped evolving because it so comfortable in human populations.
But certain questions remain to be answered: How many were afflicted? How did people respond? Green notes one particular problem with our understanding of leprosy: Why did it ‘suddenly’ become a social problem in Europe in the 11/12th century.
ISG professors Dr. Hannah Landecker and Dr. Aaron Panofsky have published a paper titled “From Social Structure to Gene Regulation, and Back: A Critical Introduction to Environmental Epigenetics for Sociology” in the Annual Review of Sociology.
Abstract: Epigenetics is a burgeoning area of biomedical research into the mechanisms by which genes are regulated—how the activity of producing proteins is controlled. Although molecular epigenetic research is highly biochemical, it is of interest to sociologists because some epigenetic changes are environmentally mediated and can persist across the life span or into further generations. Environmental epigenetic research tracks mechanisms by which social forces—from pollution to nutrition to mothering to traumatic experience—become molecularly embodied, affect gene expression, and induce durable changes in behavior and health. We begin with an introduction to the science of environmental epigenetics focused on articulating the logic of experimentation and explanation in this field. Turning to sociologists’ key interests, we review the growing literature on epigenetics of socioeconomic status. Finally, we consider how epigenetics offers opportunities and challenges for sociological research on both empirical and theoretical grounds.
Expected final online publication date for the Annual Review of Sociology Volume 39 is July 11, 2013.
The use of genome-wide analysis (GWA), where the entirety of an individual’s DNA is examined to look for the genomic mutations or variants which can cause health problems is a massively useful technology for diagnosing disease. However, it can also pose 
major ethical problems if used incorrectly, say new recommendations from the European Society of Human Genetics (ESHG) published on line today (16 May 2013) in the European Journal of Human Genetics.
Many services based on whole genome and on exome* sequencing and analysis are now available to patients at an affordable price, and this raises the question of how to ensure that they are provided appropriately. “Such sequencing generates huge amounts of information that needs to be processed, analysed, and stored in a responsible manner”, said Professor Martina Cornel, chair of the Professional and Public Policy Committee of ESHG. “It is preferable to use sequencing or analysis specifically targeted at a particular health problem to avoid unsolicited findings, or those that cannot yet be interpreted, which can cause considerable anxiety to patients and their families. Clear guidance on how to deal with such findings is needed.”
Albert Erives, associate professor in the University of Iowa Department of Biology, and his graduate student, Justin Crocker, currently a postdoctoral researcher at the Howard Hughes Medical Institute (HHMI) Janelia Farm Research Campus, have conducted a study that reveals important and useful insights into how and why developmental genes often take inputs from two independent “morphogen concentration gradients.”
Using the powerful Drosophila (fruit fly) genetic system, which includes diverse species with fully sequenced genomes, the Erives Lab identified a case of spatial and temporal conflict in the regulation of the ventral neurons defective (vnd) gene, which must be precisely regulated in order for the fly’s nervous system to be properly specified. The results show how requirements for conflicting temporal and spatial responses to one morphogen gradient can be solved by additional inputs from complementary morphogen gradients.
The Erives Lab at the UI’s Department of Biology studies the structure, function, and evolution of enhancers within the context of gene regulatory circuits underlying the evolution and development of animals by using molecular, genetic, and evolutionary genomic approaches. Within these areas, the Erives Lab has published several landmark papers notable for demonstrating how whole genome sequences can be used to accelerate biological research on outstanding questions in biology.
Read more here
A new study suggests that the large majority of noncoding DNA, which is abundant in many living things, may not actually be needed for complex life.
The clues lie in the genome of the carnivorous bladderwort plant, Utricularia gibba. The U. gibba genome is the smallest ever to be sequenced from a complex, multicellular plant. The researchers who sequenced it say that 97 percent of the genome consists of genes — bits of DNA that code for proteins — and small pieces of DNA that control those genes. It appears that the plant has been busy deleting noncoding “junk” DNA from its genetic material over many generations, the scientists say. This may explain the difference between bladderworts and junk-heavy species like corn and tobacco — and humans.
The international research team, led by the Laboratorio Nacional de Genómica para la Biodiversidad (LANGEBIO) in Mexico and the University at Buffalo, will report its findings on May 12 in Advanced Online Publication in Nature, and the information in this press release is embargoed until 1 p.m. U.S. Eastern Time on May 12.
Read more 1) here, and 2) here
ISG faculty Patrick Allard published a paper, “A C. elegans Screening Platform for the Rapid Assessment of Chemical Disruption of Germline Function” scheduled to appear in the June edition of Environmental Health Perspectives.
Abstract: Despite the developmental impact of chromosome segregation errors, we lack the tools to assess environmental effects on the integrity of the germline in animals. Here, we report the development of an assay in C. elegans that fluorescently marks aneuploid embryos following chemical exposure. We qualified the predictive value of the assay against chemotherapeutic agents as well as environmental compounds from the ToxCast Phase I library by comparing results from the C. elegans assay with the comprehensive mammalian in vivo endpoint data from the ToxRef database, The results of the assay was highly predictive of mammalian reproductive toxicities with a 69% maximum balanced accuracy. Finally, we confirmed the effect of select compounds on germline integrity by monitoring germline apoptosis and meiotic progression. We provide here a comprehensive strategy for the assessment of environmental effects on germline function.