Category Archives: Human Genetics

PUBLIC RELEASE DATE:

28-Aug-2014

Contact: Kelly Husser khusser@faseb.org 301-634-7109 Federation of American Societies for Experimental Biology

Bethesda, MD FASEB MARC (Maximizing Access to Research Careers) Program has announced the travel award recipients for the American Society of Human Genetics from October 18 22, 2014 in San Diego, California. These awards are meant to promote the entry of students, post doctorates and scientists from underrepresented groups into the mainstream of the basic science community and to encourage the participation of young scientists at the American Society of Human Genetics. This year MARC conferred 16 awards totaling $29,600.

The FASEB MARC Program is funded by a grant from the National Institute of General Medical Sciences, National Institutes of Health. A primary goal of the MARC Program is to increase the number and competitiveness of underrepresented groups engaged in biomedical and behavioral research. The following participants have been selected to receive a FASEB MARC Travel Award:

POSTER/ORAL PRESENTER (FASEB MARC PROGRAM)

FACULTY/MENTOR & STUDENT/MENTEE (FASEB MARC PROGRAM)

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FASEB is composed of 27 societies with more than 120,000 members, making it the largest coalition of biomedical research associations in the United States. Our mission is to advance health and welfare by promoting progress and education in biological and biomedical sciences through service to our member societies and collaborative advocacy.

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MARC travel awards announced for: American Society of Human Genetics 2014 Annual Meeting

The Wellcome Trust, the Medical Research Council (MRC), and the UK Department for International Development (DFID) have announced this morning that an Ebola vaccine developed in the U.S. will enter human safety trials in the UK as early as September. The consortium is devoting 2.8 million to the effort.

Anthony S. Fauci, M.D., director of the National Institute of Allergy and Infectious Diseases (NIAID), an arm of the U.S. National Institutes of Health, held a press conference this morning to discuss the specifics about the U.S. vaccine. The FDA has given the green light to begin testing here.

The vaccine was designed by Nancy J. Sullivan, Ph.D., chief of the Biodefense Research Section in NIAIDs Vaccine Research Center (VRC). She worked with other collaborators in the U.S. Army Medical Research Institute for Infectious Diseases (USAMRIID) and scientists at the Swiss-Italian biotechnology company,Okairos, acquired byGlaxoSmithKlinein May, 2013.

Ebola virus particles, colored digitally, emerging from a type of monkey epithelial cell line (Vero) grown in the laboratory. Credit: CDC Public Health Image Library

The GSK/NIAID vaccine has been designed to produce a protective immune reaction toward the surface protein on the Zaire Ebola and Sudan Ebola viruses, a protein required for the virus to normally infect humans. Because its directed at two versions of the viral protein, its called a bivalent vaccine.

In science, you never know

While the vaccine has proven to protect non-human primates from Ebola infection and produced high levels of immunogenic responses, the phase 1 trials are being conducted to ensure that any untoward reactions in humans are detected and the production of protective antibodies proceeds as observed in non-human primates.

NIAID will be starting with typical caution for the first time a vaccine is tested in healthy human volunteers. The trial, termed VRC 207, will ultimately enroll 20 healthy, adult human volunteers (age 18 to 50 years) and evaluate the safety of the virus nine times over a 48-week period and, said Fauci, whether it generates an immune response in healthy adults that, based on our animal studies, could predict effectiveness in preventing the acquisition of Ebola infection.

The volunteers will be split into two groups to receive a high or low dose of the vaccine. The trial will be staged so that small groups of volunteers receive the vaccine at a time, with the first three volunteers to be dosed starting next week at the NIH Clinical Research Center in Bethesda, Maryland. Those three volunteers will be followed for three days before any other volunteers are injected.

We expect to be able to report initial safety and immunogenicity data from this study by the end of this calendar year, said Dr. Fauci.

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GSK/NIAID Ebola Vaccines To Enter US, UK Human Safety Trials

Researchers analyzing human, fly, and worm genomes have found that these species have a number of key genomic processes in common, reflecting their shared ancestry. The findings, appearing Aug. 28, 2014, in the journal Nature, offer insights into embryonic development, gene regulation and other biological processes vital to understanding human biology and disease.

The studies highlight the data generated by the modENCODE Project and the ENCODE Project, both supported by the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health. Integrating data from the three species, the model organism ENCyclopedia Of DNA Elements (modENCODE) Consortium studied how gene expression patterns and regulatory proteins that help determine cell fate often share common features. Investigators also detailed the similar ways in which the three species use protein packaging to compact DNA into the cell nucleus and to regulate genome function by controlling access to DNA.

Launched in 2007, the goal of modENCODE is to create a comprehensive catalog of functional elements in the fruit fly and roundworm genomes for use by the research community. Such elements include genes that code for proteins, non-protein-coding genes and regulatory elements that control gene expression. The current work builds on initial catalogs published in 2010. The modENCODE projects complement the work being done by the ENCyclopedia Of DNA Elements (ENCODE) Project, which is building a comprehensive catalog of functional elements in the human and mouse genomes.

"The modENCODE investigators have provided a valuable resource for researchers worldwide," said NHGRI Director Eric Green, M.D., Ph.D. "The insights gained about the workings of model organisms' genomes greatly help to inform our understanding of human biology."

"One way to describe and understand the human genome is through comparative genomics and studying model organisms," said Mark Gerstein, Ph.D., Albert L. Williams Professor of Biomedical Informatics at Yale University in New Haven, Connecticut, and the lead author on one of the papers. "The special thing about the worm and fly is that they are very distant from humans evolutionarily, so finding something conserved across all three -- human, fly and worm -- tells us it is a very ancient, fundamental process."

In one study, scientists led by Dr. Gerstein and others, analyzed human, fly and worm transcriptomes, the collection of gene transcripts (or readouts) in a genome. They used large amounts of gene expression data generated in the ENCODE and modENCODE projects -- including more than 67 billion gene sequence readouts -- to discover gene expression patterns shared by all three species, particularly for developmental genes.

Investigators showed that the ways in which DNA is packaged in the cell are similar in many respects, and, in many cases, the species share programs for turning on and off genes in a coordinated manner. More specifically, they used gene expression patterns to match the stages of worm and fly development and found sets of genes that parallel each other in their usage. They also found the genes specifically expressed in the worm and fly embryos are re-expressed in the fly pupae, the stage between larva and adult.

The researchers found that in all three organisms, the gene expression levels for both protein-coding and non-protein-coding genes could be quantitatively predicted from chromatin features at the promoters of genes. A gene's promoter tells the cell's machinery where to begin copying DNA into RNA, which can be used to make proteins. DNA is packaged into chromatin in cells, and changes in this packaging can regulate gene function.

"Our findings open whole new worlds for understanding gene expression and how we think about the role of transcription," said co-senior author Susan Celniker, Ph.D., Head, Department of Genome Dynamics, Lawrence Berkeley National Laboratory, Berkeley, California. "modENCODE has been transformative," she added. "It has helped set the standard for the types of data that should be generated and catalogued."

Another group of scientists investigated how chromatin is organized and how it influences gene regulation in the three species. Using both modENCODE and ENCODE data, scientists compared patterns of modifications in chromatin that are needed for the cell to access the DNA inside, and the changes in DNA replication patterns as a result of these modifications. The investigators discovered that many features of chromatin were similar in all three species.

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Shared biology in human, fly and worm genomes: Powerful commonalities in biological activity, regulation

A Shot in the Arm for Evolutionary Genetics Research | Pew
http://www.pewscholars.org 2012 Pew biomedical scholar Nels Elde studies the evolution of conflict -- how the process of infection can drive some of the most dramatic adaptations seen in nature....

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A Shot in the Arm for Evolutionary Genetics Research | Pew - Video

Broad Paper Vids: Natural selection and infectious disease in human populations
Copyright Broad Institute, 2014. All rights reserved. Broad Paper Vids: Natural selection and infectious disease in human populations In the first installment of "Broad Paper Vids," researcher...

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Broad Paper Vids: Natural selection and infectious disease in human populations - Video

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Newswise BETHESDA, MD May 23, 2014 A new approach to studying microbes in the wild will allow scientists to sequence the genomes of individual species from complex mixtures. It marks a big advance for understanding the enormous diversity of microbial communities including the human microbiome. The work is described in an article published May 22 in Early Online form in the journal G3: Genes|Genomes|Genetics, published by the Genetics Society of America.

This new method will allow us to discover many currently unknown microbial species that cant be grown in the lab, while simultaneously assembling their genome sequences, says co-author Maitreya Dunham, a biologist at the University of Washingtons Department of Genome Sciences.

Microbial communities, whether sampled from the ocean floor or a human mouth, are made up of many different species living together. Standard methods for sequencing these communities combine the information from all the different types of microbes in the sample. The result is a hodgepodge of genes that is challenging to analyze, and unknown species in the sample are difficult to discover.

Our approach tells us which sequence fragments in a mixed sample came from the same genome, allowing us to construct whole genome sequences for individual species in the mix, says co-author Jay Shendure, also of the University of Washingtons Department of Genome Sciences.

The key advance was to combine standard approaches with a method that maps out which fragments of sequence were once near each other inside a cell. The cells in the sample are first treated with a chemical that links together DNA strands that are in close proximity. Only strands that are inside the same cell will be close enough to link. The DNA is then chopped into bits, and the linked portions are isolated and sequenced.

This elegant method enables the study of microbes in the environment, says Brenda Andrews, editor-in-chief of the journal G3: Genes|Genomes|Genetics. Andrews is also Director of the Donnelly Centre and the Charles H. Best Chair of Medical Research at the University of Toronto. It will open many windows into an otherwise invisible world.

At a time when personal microbiome sequencing is becoming extremely popular, this method breaks important ground in helping researchers to build a complete picture of the genomic content of complex mixtures of microorganisms. This complete picture will be crucial for understanding the impact of varying microbiome populations and the relevance of particular microorganisms for individual health.

CITATION: Species-Level Deconvolution of Metagenome Assemblies with Hi-C-Based Contact Probability Maps Joshua N. Burton, Ivan Liachko, Maitreya J. Dunham, and Jay Shendure. G3: Genes|Genomes|Genetics g3.114.011825; Early Online May 22, 2014, doi:10.1534/g3.114.011825; PMID 24855317.

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Untangling Whole Genomes of Individual Species From a Microbial Mix

A small fish that East Carolina University biologist Jeff McKinnon collected as a boy growing up in British Columbia will be the centerpiece of a study that could give insight to human genetics.

McKinnon, professor and chair of biology at ECU, is studying the threespine stickleback to find out why the bright colors of the male, which help it attract mates, sometimes show up in females. The findings could give scientists insight into the genes behind sex differences and help tailor medicine to better suit patients sex and race.

McKinnon and co-investigators Chris Balakrishnan of ECU and Catherine Peichel of the Fred Hutchinson Cancer Research Center in Seattle, have received a $316,241 grant from the National Institute of General Medical Sciences to fund the three-year study.

The fish lives on the northern Pacific and Atlantic coasts of Europe and Asia as well as North America. Fish from many populations spend most of their lives in the ocean but breed in brackish and fresh water. Purely freshwater forms also have evolved, independently on different continents and islands.

We are trying in general to understand how the sexes diverge despite sharing many genes, McKinnon said. This is a critical issue for medicine as well as evolution. We are looking at the genes involved and at patterns of gene expression.

McKinnon has studied the threespine stickleback for much of his career. His early work helped develop the stickleback as a model organism for genetic and evolutionary studies since it shows great morphological variation.

We hope to ... better understand the genetic mechanisms responsible for causing seemingly male traits to appear in female animals in some populations, McKinnon said. We also want to know if females who possess one male-like trait are only masculinized for that trait or more generally.

The research will shed light on whether some male-like traits are present in females because they benefit females or as a by-product of the benefits they provide to males and vice-versa, McKinnon said. Given the interest in better tailoring medicine by gender and ethnicity, we may provide useful insights on matters important to health.

ECU doctoral student Lenny Yong is playing a key role in this research program and helped write the grant application. The grant also will support the research of two masters students and a number of undergraduates who will be trained in behavioral studies, genetics and genomics.

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Fish study could advance medicine

PUBLIC RELEASE DATE:

20-May-2014

Contact: Raeka Aiyar, Ph.D. press@genetics-gsa.org 301-634-7302 Genetics Society of America

BETHESDA, MD (May 20, 2014) -- The Genetics Society of America (GSA) and the Drosophila research community are pleased to announce the winners of GSA Poster Awards at the 55th Annual Drosophila Research Conference, which took place in San Diego, March 26-30, 2014. These awards were made to undergraduate, graduate student, and postdoctoral researchers in recognition of the work they presented at the conference. Their projects, using the fruit fly Drosophila melanogaster as a model organism, spanned a diverse range of topics on the genetic and molecular basis of fundamental biological processes.

"We were very impressed with both the quality of the research and the clarity of presentation by the winning candidates," noted Adam P. Fagen, PhD, GSA's Executive Director. "It is gratifying to see such inspiring work by members of our community so early in their careers. We look forward to hearing much more about their contributions in the years to come. "

The recipients were chosen from 789 posters presented at the meeting, 561 of which were authored by GSA members and therefore eligible for an award.

2014 Drosophila Research Conference Poster Award Winners (for full release and photos, please visit the release URL http://www.genetics-gsa.org/media/releases/GSA_PR_20140520_Dros_poster_awards.pdf)

Postdoctoral Winners

FIRST PRIZE: Melanie I. Worley, University of California, Berkeley, USA Poster Title: "Chameleon: a mutant with an increased frequency of notum-to-wing transdetermination" Principal Investigator: Iswar K. Hariharan

SECOND PRIZE: Malini Natarajan, Stowers Institute for Medical Research, Kansas City, MO, USA Poster Title: "Genome-wide analysis of tissue-specific effector genes in the Drosophila embryo" Principal Investigator: Julia Zeitlinger

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Nine young scientists awarded by the Genetics Society of America for fruit fly research

Dennis Thompson HealthDay Reporter Posted: Monday, May 19, 2014, 4:00 PM

MONDAY, May 19, 2014 (HealthDay News) -- Married couples typically have a lot in common, and researchers now say that may extend to their genes.

Spouses tend to be more genetically similar than two people chosen off the street at random, according to a new study.

It's likely this is because people who are genetically similar have more opportunities to meet and mate -- in other words, "birds of a feather flock together," said lead author Benjamin Domingue, a research associate at the University of Colorado-Boulder's Institute of Behavioral Science.

"Genes drive so many things that can structure opportunities and outcomes that determine who we mate," Domingue said. For example, genes may determine whether your potential partner shares your height or weight, or your ethnic background, religion or level of education.

Domingue and his colleagues examined the genetics of 825 white heterosexual American married couples, comparing 1.7 million potential points of genetic similarity.

The results, published May 19 in the Proceedings of the National Academy of Sciences, found that spouses share a significant number of genetic similarities, compared to any two random individuals.

This conclusion could end up changing the statistical models scientists use to understand genetic differences between human populations, because such models often assume random mating, the researchers said.

The similarity between married folks is not nearly as deep as that between siblings, though.

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Saying 'I Do' Because of Similar DNA?

CSHL Keynote: Dr. Peter Donnelly, Wellcome Trust Centre for Human Genetics
"Genomic Discovery: Mechanisms of Meiotic Recombination" from the 2014 Biology of Genome Meeting.

By: CSHL Leading Strand

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CSHL Keynote: Dr. Peter Donnelly, Wellcome Trust Centre for Human Genetics - Video