Category Archives: Human Genetics

A pedestrian walks outside a Merck & Co. facility in Summit, New Jersey.

A human trial of an experimental Ebola vaccine recently licensed by Merck & Co. has been suspended until January after four healthy volunteers receiving it experienced mild joint pain, according to a Geneva hospital helping conduct the trial.

As a precautionary measure, the study team has declared a pause in the injections, the hospital said. It added that joint pain after infection or vaccination is a well-documented phenomenon which does not worry specialists. However, it deserves to be carefully studied. The hospital said the vaccine overall has been very well tolerated among the 59 people who have received it in Geneva.

Merck agreed in November to pay NewLink Genetics Corp. NLNK, +0.76% of Ames, Iowa, $30 million for the rights to the vaccine, plus an additional $20 million and royalties on sales if the vaccine meets certain development targets.

Merck MRK, -2.73% , of Whitehouse Station, N.J., said in a statement that it was aware the study had been placed on a temporary hold after transient complaints of joint pain in Geneva. These events have not been reported at any of the other clinical sites, the company added. It is not known at this time whether these events are related to the vaccine or not. We understand the level of vaccine being administered in the trial, which is being conducted at a number of other sites, will proceed using lower doses of the vaccine.

NewLink didnt immediately respond to a request for comment.

An expanded version of this report appears at WSJ.com.

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The Wall Street Journal: Human trial of experimental Merck Ebola vaccine is suspended

Chicago, IL (PRWEB) December 09, 2014

Fertility Centers of Illinois (FCI) announces the clinical use of Next Generation DNA Sequencing (NGS) in its reproductive genetic health program. Previous genetic screening methods, known as Preimplantation Genetic Screening (PGS), have allowed scientists to examine the chromosomes of embryos made in an IVF laboratory. Many thousands of healthy babies have been born using PGS to detect chromosome disorders such as Down syndrome. These traditional technologies have utilized microarrays of 3,000 DNA targets across the human genome to examine the chromosomes of each IVF embryo. With advances from the Human Genome Project, newer technologies such as Next-Generation Sequencing of DNA, allows for the interrogation of millions of DNA locations along the human chromosomes, effectively improving the precision of the test by 1000-fold. This state-of-the-art molecular genetics test is now being performed at Fertility Centers of Illinois (FCI). The technology became clinically available this year.

FCI recently performed the first case of NGS for chromosome screening in Illinois. The testing was performed in conjunction with Genesis Genetics, a genetic testing company with its world headquarters located in Plymouth, Michigan.

This new high resolution genetic screening method provides more clearly defined data, allowing for issues to be diagnosed with greater accuracy. NGS can help couples undergoing fertility treatment prevent miscarriage and deliver a healthy baby by diagnosing genetic disorders prior to embryo transfer, as well as help couples select the most viable embryos for treatment.

NGS is a fundamentally different approach to extracting genetic information from cells. It provides scientists a more detailed perspective on the entire genome and is significantly less expensive than previous methods of DNA sequencing. Its application in counting chromosomes to avoid genetic syndromes, discovering new genes and new gene products, and direct analysis of hereditary DNA mutations are all currently being used to give physicians and their patients a better understanding of their genetic makeup, or that of their embryos.

As a woman ages, the risk of delivering a baby with a genetic disorder increases. According to the Journal of the American Medical Association, at 36 years of age the risk of Down Syndrome is 1/289 while the risk of any chromosomal disorder is 1/127. These numbers respectively increase to 1/106 and 1/66 at age 40, then progress to 1/30 and 1/21 at age 45. Non-profit organization Global Genes estimates that 80 percent of rare diseases are caused by faulty genes, with approximately 1 in 10 Americans or 30 million people currently living with rare diseases. The statistics for women opting to delay motherhood also continue to rise. Recent data from the Centers for Disease Control reported nine times as many first births to women 35 and older than there were 40 years ago.

I believe that next generation sequencing will revolutionize our understanding of the genetic basis of countless disease states, says Dr. John Rapisarda, reproductive endocrinologist and director of the Recurrent Pregnancy Loss Center of Excellence at Fertility Centers of Illinois. This information will provide invaluable insight into the underlying cause of many previously unexplained pregnancy losses, and help couples and individuals in their goal of becoming parents.

Genesis Genetics is the largest and most experienced provider of pre-implantation genetic testing in the world, and were excited to offer next generation sequencing and to partner with the Fertility Centers of Illinois and the Recurrent Pregnancy Loss Center of Excellence, says Tony Gordon, Ph.D., a Managing Director of Genesis Genetics. We believe this new technology will make genetic screening more affordable for patients, and set the benchmark as the new standard for fertility treatment in the future.

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Fertility Centers of Illinois is one of the leading fertility treatment practices in the United States, providing advanced reproductive endocrinology services in the Chicago area for more than 30 years. FCI physicians, embryologists and support staff are stringently chosen based on educational background, medical skills and their ability to collaborate. With a team of 11 nationally and internationally recognized reproductive physicians who treat thousands of patients each year, the practice has earned a reputation for overcoming hard-to-solve fertility issues. FCI is dedicated to medical and clinical excellence and continues to invest in the latest technologies and research. FCI offers a comprehensive range of fertility treatment options including intrauterine insemination, in vitro fertilization, donor egg, gestational carrier, and preimplantation genetic diagnosis, as well as extensive resources to address financial and emotional needs. Fostering a culture for continuous innovation has made FCI home to the annual Midwest Reproductive Symposium which attracts experts in the field of reproductive endocrinology from around the world. FCI has 10 offices conveniently located throughout the Chicagoland area (Buffalo Grove, Chicago/River North, Crystal Lake, Glenview, Highland Park, Hoffman Estates, Lindenhurst, Warrenville, Oakbrook Terrace, and Tinley Park). FCI is a member of the Attain Fertility Network which provides discounted fertility treatment programs. For more information call 877-324-4483 or visit http://www.fcionline.com

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Chicago Fertility Center Performs New Clinical Test for High Resolution Genetic Screening

Image: Wikimedia Commons Oscar Wergeland

Vikings may have been family men who traveled with their wives to new lands, according to a new study of ancient Viking DNA.

Maternal DNA from ancient Norsemen closely matches that of modern-day people in the North Atlantic isles, particularly from the Orkney and Shetland Islands.

The findings suggest that both Viking men and women sailed on the ships to colonize new lands. The new study also challenges the popular conception of Vikings as glorified hoodlums with impressive seafaring skills.

"It overthrows this 19th century idea that the Vikings were just raiders and pillagers," said study co-author Erika Hagelberg, an evolutionary biologist at the University of Oslo in Norway. "They established settlements and grew crops, and trade was very, very important."

Vikings hold a special place in folklore as manly warriors who terrorized the coasts of France, England and Germany for three centuries. But the Vikings were much more than pirates and pillagers. They established far-flung trade routes, reached the shores of present-day America, settled in new lands and even founded the modern city of Dublin, which was called Dyfflin by the Vikings.

Some earlier genetic studies have suggested that Viking males traveled alone and then brought local women along when they settled in a new location. For instance, a 2001 study published in the American Journal of Human Genetics suggested that Norse men brought Gaelic women over when they colonized Iceland.

To learn more about Norse colonization patterns, Hagelberg and her colleagues extracted teeth and shaved off small wedges of long bones from 45 Norse skeletons that were dated to between A.D. 796 and A.D. 1066. The skeletons were first unearthed in various locations around Norway and are now housed in the Schreiner Collection at the University of Oslo.

The team looked at DNA carried in the mitochondria, the energy powerhouses of the cell. Because mitochondria are housed in the cytoplasm of a woman's egg, they are passed on from a woman to her children and can therefore reveal maternal lineage. The team compared that material with mitochondrial DNA from 5,191 people from across Europe, as well as with previously analyzed samples from 68 ancient Icelanders.

The ancient Norse and Icelandic genetic material closely matched the maternal DNA in modern North Atlantic people, such as Swedes, Scots and the English. But the ancient Norse seemed most closely related to people from Orkney and Shetland Islands, Scottish isles that are quite close to Scandinavia.

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Genetics show Viking women colonized new lands, too

Huntington Willard, an innovative leader in the fields of genetics and genome biology who has built comprehensive research centers at leading institutions, has been appointed the next president and director of the Marine Biological Laboratory in Woods Hole, Mass.

President Robert J. Zimmer, who is also chairman of the MBLs Board of Trustees, announced the appointment to the MBL and University communities. MBL is an affiliate of the University of Chicago, a relationship designed to yield novel avenues for scientific discovery and education at both institutions.

At the MBL, Willard will lead one of the worlds foremost centers for biological research, international collaboration and education. Willard, currently the Arts & Sciences Professor of Biology and Genome Sciences at Duke University, will begin his appointment at the MBL on Jan. 1, 2015.

Willard has earned a reputation as a groundbreaking scientist, a strong leader and builder of complex academic initiatives, as well as a talented educator who has received multiple teaching awards. From 2003 to 2014 he was the founding director of the Duke Institute for Genome Sciences and Policy, a highly interdisciplinary unit that spanned the life sciences, engineering, medicine, social sciences and the humanities. For that program, Willard recruited 35 faculty members to Duke across 21 departments and established broad institutional strength in the genome sciences. He had previously chaired the Department of Genetics at Case Western Reserve University, where he also built a widely respected program of research and education.

As a researcher, Willard has explored many facets of genetics and genome biology, with a particular interest in the structure and function of chromosomes, the epigenetic regulation of gene silencing, and the evolution and organization of complex genomes. He is an elected member of the National Academy of Sciences and the American Academy of Arts and Sciences and has won many awards for genetics scholarship, including the William Allan Award from the American Society of Human Genetics.

Hunt Willard is an outstanding scholar and a proven scientific leader who has created programs that have earned international respect, said Zimmer. He exemplifies the values that guide the Marine Biological Laboratory and the University of Chicagowide-ranging collaboration, eagerness to explore and define new fields of study, and a dedication to discovery through engaged education. We are delighted to welcome him to this community, and confident that he will lead the MBL in a way that preserves its strengths, creates new opportunities for growth, and takes advantage of the relationship with the University of Chicago.

Willard said he was attracted by the MBLs historic role as a beacon for scientists from around the world, including its renowned summer courses and creative year-round programs of research and education.

Im honored to be named the next president and director of MBL, Willard said. The MBL has enjoyed such a strong tradition of integrating research and education since its founding, and offers wonderful opportunities to develop and implement novel strategies for tackling some of the most pressing questions in life sciences and biomedical research today. The highly interdisciplinary nature of its year-round and visiting scientists and students offers unique combinations of scholarship, teamwork and adaptability that cant be easily matched elsewhere.

I cant imagine a place that better illustrates the values of integrated research and education that are important to meas a scientist, an educator and as a leader. I look forward with great enthusiasm to joining this community, at both MBL and the University of Chicago.

Jennifer Morgan, an MBL scientist and associate director of the Eugene Bell Center for Regenerative Biology and Tissue Engineering, said Willard is a perfect fit for the MBLs intellectual culture.

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Huntington Willard named president and director of Marine Biological Laboratory

flipped 5Dec02 Human Genetics OD14
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flipped 5Dec02 Human Genetics OD14 - Video

CREEPYPASTA | Conveyor | HUMAN GENETICS! | Part 1
A surviving group of scientists in an underground facility researching human genetics must find a way to stop the robots which have become self aware and sta...

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CREEPYPASTA | Conveyor | HUMAN GENETICS! | Part 1 - Video

Connecting Roman and Medieval Climate and Historical Change
Michael McCormick discusses use of latest tools of climate science, human genetics and computer science to better understand the history of Medieval Europe and Rome, and the latest development...

By: YaleUniversity

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Connecting Roman and Medieval Climate and Historical Change - Video

Duck Hunt (The Hidden #11)
What is The Hidden In the early 1950s human genetics experimentation was taking its first, tentative steps. Amongst many other black projects, a team of Brit...

By: MrMad TeaHatter

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Duck Hunt (The Hidden #11) - Video

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Newswise Medford/Somerville, MassResearchers in human genetics have known that long nucleotide repeats in DNA lead to instability of the genome and ultimately to human hereditary diseases such Freidreich's ataxia and Huntington's disease.

Scientists have believed that the lengthening of those repeats occur during DNA replication when cells divide or when the cellular DNA repair machinery gets activated. Recently, however, it became apparent that yet another process called transcription, which is copying the information from DNA into RNA, could also been involved.

A Tufts University study published online on November 20 in the journal "Cell Reports" by a research team lead by Sergei Mirkin, the White Family Professor of Biology at Tufts' School of Arts and Sciences, along with former graduate student Kartick Shah and graduate students Ryan McGuity and Vera Egorova, explores the relationship between transcription and the expansions of DNA repeats. It concludes that the active transcriptional state of a DNA segment containing a DNA repeat predisposes it for expansions. The print version of the study will be published on December 11.

"There are a great many simple repetitive motifs in our DNA, such as GAAGAAGAA or CGGCGGCGG," says Mirkin. "They are stable and cause no harm if they stay short. Occasionally, however, they start lengthening compulsively, and these uncontrollable expansions lead to dramatic changes in genome stability, gene expression, which can lead to human disease."

In their study, the researchers used baker's yeast to monitor the progress and the fundamental genetic machineries for transcription, replication and repair in genome functioning.

"The beauty of the yeast system is that it provides one with a practically unlimited arsenal of tools to study the mechanisms of genome functioning," says Mirkin. "We created genetic systems to track down expansions of the repeats that were positioned in either transcribed or non-transcribed parts of reporter genes."

After measuring the rate of repeat expansions in all these cases, the authors found that a repeat can expand under the condition when there is practically no transcription, but the likelihood of the expansion process is drastically (10-fold) higher when the reporter is transcriptionally active.

Surprisingly, however, transcription machinery does not need to physically pass through the repeat to stimulate its expansion. Thus, it is the active transcription state of the repeat-containing DNA segment, rather than RNA synthesis through the repeat that promotes expansions.

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A Link between DNA Transcription and Disease Causing Expansions Which Lead to Hereditary Disorders

Bist du ein Bot? (Hidden Shorts)
Was ist The Hidden: Source? Storyline In the early 1950s human genetics experimentation was taking its first, tentative steps. Amongst many other black proje...

By: SmurfSkip

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Bist du ein Bot? (Hidden Shorts) - Video