The Intradisciplinary Influence of Composition and WAC, Part Two ...

By: Karla Lyles, Chris M. Anson
Publication: The WAC Journal
Date: July 17, 2012

Summary: In the second part of their study of Writing Across the Curriculum (WAC), Chris M. Anson and Karla Lyles continue to track how the WAC movement developed and examine how writing was taught in a range of disciplines in the years 1986?2006.

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Excerpt

Histories of writing across the curriculum (WAC) do not generally ascribe the development of this enduring movement to scholars and teachers within the disciplines themselves. Most accounts suggest that WAC originated in the work of writing and literacy scholars who advocated a more widespread attention to writing in all disciplinary areas across higher education (Russell; Bazerman et al.). But we know little about the influence of this cross-disciplinary outreach and the extent to which it made its way into the inner workings of various disciplines. Investigating the question of influence allows us to begin exploring how particular disciplinary communities have adopted, adapted, and repurposed scholarship on writing and writing instruction based on their own instructional ideologies, disciplinary orientations, and curricular needs. In this article, we report the results of archival research designed to gauge the influence of composition studies on how writing is taught in a range of disciplines. We examined articles published in discipline-specific pedagogical journals, which represent one of the purest indices of possible influence by showing us what scholars and instructors within the disciplines say to each other about the integration of writing into college-level teaching. Fourteen discipline-based pedagogical journals published between January 1967 and December 2006 were mined for articles focusing on instruction in writing (all articles focusing on non-instructional aspects of writing, such as publication tips for scholars, were ignored). The resulting corpus was subjected to counts of publications over time, citation analysis, and content analysis (Neuendorf; Krippendorff) for trends in focus and orientation. . . .

Here we report the results of the second phase of the study, which examined the corpus of articles over the subsequent twenty years, from 1986?2006, "a time of increasing programmatic activity, stronger interest in factors such as social context, student development, and diversity, and the burgeoning influence of computer technology on writing and learning to write" (Anson 17). For details about the study's methodology and a more extensive discussion of the results of the first phase than the sketch provided here, we urge the reader to consult Part One.

Copyright ? 2011 Plymouth State University. Reprinted with permission.
Anson, Chris M. and Karla Lyles. 2011. "The Intradisciplinary Influence of Composition and WAC, Part Two: 1986?2006." The WAC Journal 22: 7?19.

Read more articles from this issue of The WAC Journal.

About the Authors
Chris M. Anson is University Distinguished Professor, professor of English, and director of the Campus Writing and Speaking Program at North Carolina State University.
Karla Lyles is a lecturer in the Writing and Linguistics Department at Georgia Southern University.

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ScienceDaily: Biochemistry News

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A team of chemists has now, for the first time, successfully identified natural elemental fluorine in a special fluorite, the "fetid fluorite" or "antozonite."Thu, 05 Jul 2012 17:20:20 EDThttp://www.sciencedaily.com/releases/2012/07/120705172050.htmhttp://www.sciencedaily.com/releases/2012/07/120705144407.htm Using piezoelectric materials, researchers have replicated the muscle motion of the human eye to control camera systems in a way designed to improve the operation of robots. 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Their experiments showed that steel plates to which a coating containing dispersed vanadium pentoxide particles had been applied could be exposed to seawater for weeks without the formation of deposits of barnacles, bacteria, and algae.Mon, 02 Jul 2012 13:35:35 EDThttp://www.sciencedaily.com/releases/2012/07/120702133531.htmhttp://www.sciencedaily.com/releases/2012/07/120701191617.htm New advances in tissue engineering could one day make a replacement liver from a patient's cells, or animal muscle tissue that could be cut into steaks. One problem with making 3-D tissue structures, however, is keeping the interior cells from suffocating. 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They describe engineering micro- and nano-sized capsules that contain the genetically coded instructions, plus the read-out gear and assembly line for protein synthesis that can be switched on with an external signal.Wed, 27 Jun 2012 10:33:33 EDThttp://www.sciencedaily.com/releases/2012/06/120627103350.htmhttp://www.sciencedaily.com/releases/2012/06/120627103310.htm Researchers have developed a new technique for controlling the crystalline structure of titanium dioxide at room temperature. The development should make titanium dioxide more efficient in a range of applications, including photovoltaic cells, hydrogen production, antimicrobial coatings, smart sensors and optical communication technologies.Wed, 27 Jun 2012 10:33:33 EDThttp://www.sciencedaily.com/releases/2012/06/120627103310.htmhttp://www.sciencedaily.com/releases/2012/06/120627092012.htm Ever since Hennig Brand's discovery in 1669, elementary phosphorus has fascinated chemists around the world. It is industrially produced by the ton and its compounds have numerous applications in materials science and the life sciences. The main known forms of the element are white, red, and black phosphorus. Chemists have now succeeded in creating a positively charged pure phosphorus compound.Wed, 27 Jun 2012 09:20:20 EDThttp://www.sciencedaily.com/releases/2012/06/120627092012.htmhttp://www.sciencedaily.com/releases/2012/06/120626114322.htm Imagine if doctors could perform surgery without ever having to cut through your skin. Or if they could diagnose cancer by seeing tumors inside the body with a procedure that is as simple as an ultrasound. Thanks to a new technique, all of that may be possible in the not-so-distant future.Tue, 26 Jun 2012 11:43:43 EDThttp://www.sciencedaily.com/releases/2012/06/120626114322.htmhttp://www.sciencedaily.com/releases/2012/06/120625160403.htm A mechanism that controls the way organisms breathe or photosynthesize has been discovered by scientists. The research could pave the way for improved biofuel production.Mon, 25 Jun 2012 16:04:04 EDThttp://www.sciencedaily.com/releases/2012/06/120625160403.htmhttp://www.sciencedaily.com/releases/2012/06/120625125803.htm Researchers have found a way to create much slimmer thin-film solar cells without sacrificing the cells' ability to absorb solar energy. Making the cells thinner should significantly decrease manufacturing costs for the technology.Mon, 25 Jun 2012 12:58:58 EDThttp://www.sciencedaily.com/releases/2012/06/120625125803.htmhttp://www.sciencedaily.com/releases/2012/06/120625100915.htm Differentiation of stem cells into bone nodules is greatly accelerated by nanomolecular scaffolds.Mon, 25 Jun 2012 10:09:09 EDThttp://www.sciencedaily.com/releases/2012/06/120625100915.htmhttp://www.sciencedaily.com/releases/2012/06/120623094310.htm Scientists have found a new mathematical approach to simulating the electronic behavior of noncrystalline materials, which may eventually play an important part in new devices including solar cells, organic LED lights and printable, flexible electronic circuits.Sat, 23 Jun 2012 09:43:43 EDThttp://www.sciencedaily.com/releases/2012/06/120623094310.htmhttp://www.sciencedaily.com/releases/2012/06/120619092935.htm A key component found in an ancient anaerobic microorganism may serve as a sensor to detect potentially fatal oxygen, researchers have found. This helps researchers learn more about the function of these components, called iron-sulfur clusters, which occur in different parts of cells in all living creatures.Tue, 19 Jun 2012 09:29:29 EDThttp://www.sciencedaily.com/releases/2012/06/120619092935.htmhttp://www.sciencedaily.com/releases/2012/06/120618153427.htm Scientists are racing to sequence DNA faster and cheaper than ever by passing strands of the genetic material through molecule-sized pores. Now, scientists have adapted this ?nanopore? method to find DNA damage that can lead to mutations and disease.Mon, 18 Jun 2012 15:34:34 EDThttp://www.sciencedaily.com/releases/2012/06/120618153427.htmhttp://www.sciencedaily.com/releases/2012/06/120618111830.htm Overturning two long-held misconceptions about oil production in algae, scientists show that ramping up the microbes' overall metabolism by feeding them more carbon increases oil production as the organisms continue to grow. The findings may point to new ways to turn photosynthetic green algae into tiny "green factories" for producing raw materials for alternative fuels.Mon, 18 Jun 2012 11:18:18 EDThttp://www.sciencedaily.com/releases/2012/06/120618111830.htmhttp://www.sciencedaily.com/releases/2012/06/120616145535.htm The design of a nature-inspired material that can make energy-storing hydrogen gas has gone holistic. Usually, tweaking the design of this particular catalyst -- a work in progress for cheaper, better fuel cells -- results in either faster or more energy efficient production but not both. Now, researchers have found a condition that creates hydrogen faster without a loss in efficiency.Sat, 16 Jun 2012 14:55:55 EDThttp://www.sciencedaily.com/releases/2012/06/120616145535.htmhttp://www.sciencedaily.com/releases/2012/06/120615204741.htm Researchers have engineered nanoparticles that show great promise for the treatment of multiple myeloma (MM), an incurable cancer of the plasma cells in bone marrow.Fri, 15 Jun 2012 20:47:47 EDThttp://www.sciencedaily.com/releases/2012/06/120615204741.htmhttp://www.sciencedaily.com/releases/2012/06/120613153331.htm A powerful color-based imaging technique is making the jump from remote sensing to the operating room. Scientists are working to ensure it performs as well when spotting cancer cells in the body as it does with oil spills in the ocean.Wed, 13 Jun 2012 15:33:33 EDThttp://www.sciencedaily.com/releases/2012/06/120613153331.htmhttp://www.sciencedaily.com/releases/2012/06/120613133341.htm In the not-too-distant future, scientists may be able to use DNA to grow their own specialized materials, thanks to the concept of directed evolution. Scientists have, for the first time, used genetic engineering and molecular evolution to develop the enzymatic synthesis of a semiconductor.Wed, 13 Jun 2012 13:33:33 EDThttp://www.sciencedaily.com/releases/2012/06/120613133341.htmhttp://www.sciencedaily.com/releases/2012/06/120613133150.htm An implantable fuel cell could power neural prosthetics that help patients regain control of limbs. Engineers have developed a fuel cell that runs on the same sugar that powers human cells: glucose. This glucose fuel cell could be used to drive highly efficient brain implants of the future, which could help paralyzed patients move their arms and legs again.Wed, 13 Jun 2012 13:31:31 EDThttp://www.sciencedaily.com/releases/2012/06/120613133150.htmhttp://www.sciencedaily.com/releases/2012/06/120613102130.htm A scientist may be onto an ocean of discovery because of his research into a little sea creature called the mantis shrimp. The research is likely to lead to making ceramics -- today's preferred material for medical implants and military body armour -- many times stronger. The mantis shrimp's can shatter aquarium glass and crab shells alike.Wed, 13 Jun 2012 10:21:21 EDThttp://www.sciencedaily.com/releases/2012/06/120613102130.htmhttp://www.sciencedaily.com/releases/2012/06/120612145139.htm Researchers have created a computational tool to help predict how proteins fold by finding amino acid pairs that are distant in sequence but change together. Protein interactions offer clues to the treatment of disease, including cancer.Tue, 12 Jun 2012 14:51:51 EDThttp://www.sciencedaily.com/releases/2012/06/120612145139.htmhttp://www.sciencedaily.com/releases/2012/06/120612101458.htm A novel porous material that has unique carbon dioxide retention properties has just been developed.Tue, 12 Jun 2012 10:14:14 EDThttp://www.sciencedaily.com/releases/2012/06/120612101458.htmhttp://www.sciencedaily.com/releases/2012/06/120611193636.htm A newly developed carbon nanotube material could help lower the cost of fuel cells, catalytic converters and similar energy-related technologies by delivering a substitute for expensive platinum catalysts.Mon, 11 Jun 2012 19:36:36 EDThttp://www.sciencedaily.com/releases/2012/06/120611193636.htmhttp://www.sciencedaily.com/releases/2012/06/120611105311.htm New groundbreaking research has found that exposure to nanoparticles can have a serious impact on health, linking it to rheumatoid arthritis and the development of other serious autoimmune diseases. The findings have health and safety implications for the manufacture, use and ultimate disposal of nanotechnology products and materials. They also identified new cellular targets for the development of potential drug therapies in combating the development of autoimmune diseases.Mon, 11 Jun 2012 10:53:53 EDThttp://www.sciencedaily.com/releases/2012/06/120611105311.htmhttp://www.sciencedaily.com/releases/2012/06/120611092345.htm Researchers have created a reliable and fast flu-detection test that can be carried in a first-aid kit. The novel prototype device isolates influenza RNA using a combination of magnetics and microfluidics, then amplifies and detects probes bound to the RNA. The technology could lead to real-time tracking of influenza.Mon, 11 Jun 2012 09:23:23 EDThttp://www.sciencedaily.com/releases/2012/06/120611092345.htmhttp://www.sciencedaily.com/releases/2012/06/120610151304.htm Enabling bioengineers to design new molecular machines for nanotechnology applications is one of the possible outcomes of a new study. Scientists have developed a new approach to visualize how proteins assemble, which may also significantly aid our understanding of diseases such as Alzheimer's and Parkinson's, which are caused by errors in assembly.Sun, 10 Jun 2012 15:13:13 EDThttp://www.sciencedaily.com/releases/2012/06/120610151304.htmhttp://www.sciencedaily.com/releases/2012/06/120606155808.htm Using ultrafast, intensely bright pulses of X-rays scientists have obtained the first ever images at room temperature of photosystem II, a protein complex critical for photosynthesis and future artificial photosynthetic systems.Wed, 06 Jun 2012 15:58:58 EDThttp://www.sciencedaily.com/releases/2012/06/120606155808.htmhttp://www.sciencedaily.com/releases/2012/06/120606132316.htm A new voyage into "chemical space" ? occupied not by stars and planets but substances that could become useful in everyday life ? has concluded that scientists have synthesized barely one tenth of one percent of potential medicines. The report estimates that the actual number of these so-called "small molecules" could be one novemdecillion (that's one with 60 zeroes), more than some estimates of the number of stars in the universe.Wed, 06 Jun 2012 13:23:23 EDThttp://www.sciencedaily.com/releases/2012/06/120606132316.htmhttp://www.sciencedaily.com/releases/2012/06/120605121639.htm Halogens particularly chlorine, bromine, and iodine ? have a unique quality which allows them to positively influence the interaction between molecules. This ?halogen bonding? has been employed in the area of materials science for some time, but is only now finding applications in the life sciences.Tue, 05 Jun 2012 12:16:16 EDThttp://www.sciencedaily.com/releases/2012/06/120605121639.htmhttp://www.sciencedaily.com/releases/2012/06/120605102842.htm Researchers have developed a highly sensitive detector of infrared light that can be used in applications ranging from detection of chemical and biochemical weapons from a distance and better airport body scanners to chemical analysis in the laboratory and studying the structure of the universe through new telescopes.Tue, 05 Jun 2012 10:28:28 EDThttp://www.sciencedaily.com/releases/2012/06/120605102842.htmhttp://www.sciencedaily.com/releases/2012/06/120604092858.htm A new microscope enabled scientists to film a fruit fly embryo, in 3D, from when it was about two-and-a-half hours old until it walked away from the microscope as a larva.Mon, 04 Jun 2012 09:28:28 EDThttp://www.sciencedaily.com/releases/2012/06/120604092858.htm

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Egypt's president says he respects court verdicts

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Source: http://news.yahoo.com/egypts-president-says-respects-court-verdicts-162639197.html

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Harrisburg University Sees Partnerships as Vital

Jul 3, 2012

Harrisburg University of Science and Technology?s Interim President, Dr. Eric Darr, and Robert J. Dolan, Chair of the Board of Trustees, visited on July 2^nd with the editorial board of the Pulitzer Prize-winning daily newspaper, The Patriot-News.

The wide-ranging discussion addressed many topics concerning Harrisburg University.? The Patriot-News published an excerpt of the discussion on page A-11 in the July 3rd issue of the paper. ?The article is found online at http://www.pennlive.com/editorials/index.ssf/2012/07/harrisburg_university_sees_par.html

The Board of Trustees appointed Dr. Darr interim president of the University effective July 1, 2012.

Founded in 2001 to address Central Pennsylvania's need for increased opportunities for study leading to careers in science, technology, engineering and math (STEM) fields, Harrisburg University is an innovative and ambitious private institution that produces graduates who provide increased competence and capacity in science and technology disciplines to Pennsylvania and the nation. Harrisburg University ensures institutional access for underrepresented students and links learning and research to practical outcomes. As a private University serving the public good, Harrisburg University remains the only STEM-focused comprehensive university located between Philadelphia and Pittsburgh.

For more information on the University's demand-driven undergraduate, graduate and certificate programs in applied science and technology fields, call 717.901.5146 or email Connect@HarrisburgU.edu

---

Related Links:

Source: http://www.harrisburgu.edu/news/article.php?id=994

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Farm parody of 'Sexy and I Know It' goes viral

This frame grab from video shows Assaria, Kan., brothers, from left: Nathan; Kendal and Greg Peterson in their video parody on LMAFO's "Sexy and I Know It." The parody, that has gone viral on YouTube and Facebook, shows the three brothers rapping their farming mission on the family's Saline County farm. (AP Photo/Courtesy Greg Peterson)

This frame grab from video shows Assaria, Kan., brothers, from left: Nathan; Kendal and Greg Peterson in their video parody on LMAFO's "Sexy and I Know It." The parody, that has gone viral on YouTube and Facebook, shows the three brothers rapping their farming mission on the family's Saline County farm. (AP Photo/Courtesy Greg Peterson)

This frame grab from video shows Nathan Peterson from video parody on LMAFO's "Sexy and I Know It." The parody, that has gone viral on YouTube and Facebook, shows Nathan and his two brothers rapping their farming mission on the family's Saline County farm. (AP Photo/Courtesy Greg Peterson)

This frame grab from video shows Assaria, Kan., brothers, from left: Nathan; Greg and Kendal Peterson in their video parody on LMAFO's "Sexy and I Know It." The parody, that has gone viral on YouTube and Facebook, shows the three brothers rapping their farming mission on the family's Saline County farm. (AP Photo/Courtesy Greg Peterson)

This frame grab from video shows Assaria, Kan., brothers, from left: Kendal; Greg and Nathan Peterson in their video parody on LMAFO's "Sexy and I Know It." The parody, that has gone viral on YouTube and Facebook, shows the three brothers rapping their farming mission on the family's Saline County farm. (AP Photo/Courtesy Greg Peterson)

This frame grab from video shows Assaria, Kan., brothers, from left: Kendal, Nathan and Greg Peterson in their video parody on LMAFO's "Sexy and I Know It." The parody, that has gone viral on YouTube and Facebook, shows the three brothers rapping their farming mission on the family's Saline County farm. (AP Photo/Courtesy Greg Peterson)

WICHITA, Kan. (AP) ? Kansas State University student Greg Peterson and some friends were unwinding at a drive-in restaurant when LMFAO's song "Sexy and I Know It" came on the radio. He groaned.

But as the chorus droned on, the 21-year-old found inspiration. He switched "sexy" to "farming" as he began rapping. Then he started coming up with lyrics. It would be fun, he thought, to do a video parody with his brothers when he returned home to the family farm in central Kansas.

Peterson said the brothers aimed the video at their city friends on Facebook because they "hardly knew anything about the farm." They ended up educating the world. "I'm Farming and I Grow It" video has become an Internet sensation with more than 3.2 million views since it was posted June 25 on YouTube.

Its success has been hailed by farm groups, documented by newspapers and even won the brothers a whirlwind trip to New York City for a television appearance on Fox News Channel's "Fox & Friends."

Peterson said he and his family have been a little bit overwhelmed by all the attention and he's doing "some normal things" now to keep sane. On a recent morning, he was out swathing ? or mowing ? the prairie hay used to feed the family's cattle.

"I am just trying to rest my brain a little bit and get back to, you know, this is reality," he said by cellphone. "This is something I can understand, whereas when I was in New York, everything was just hitting my mind, and it was kind of like, 'I can't believe this, I can't believe this.'"

The 21-year-old Kansas State University senior isn't the first to parody LMFAO's club hit. Spoofs include "Elmo and I Know It," which features the popular "Sesame Street" character, "I'm Average and I Know It," and "Santa and I Know It." Most have only a few thousand hits, although the Elmo version has garnered roughly 12.7 million hits in about seven months.

Peterson's 3:32-minute video begins at the break of dawn with him and his brothers, Nathan, 18, and Kendal, 15, walking across a field of golden wheat that sways gently in the wind. The scenes then shift rapidly to the song's beat, showing the brothers doing chores, driving combines and tractors and jumping on hay bales. It ends with the three walking off into the sunset across a field where the wheat has been harvested.

One scene shows Peterson feeding cattle as he raps, "When I step to the bunk, yeah, this is what I see: All the hungry cattle are staring at me. I got passion for my plants, and I ain't afraid to show it, show it, show it. I'm farming, and I grow it."

Peterson, who's majoring in agriculture communication and journalism and minoring in music performance at Kansas State, said the video was produced with iMovie and GarageBand software. His 11-year-old sister, Laura, shot some of it on the family farm near Assaria.

Steve Baccus, the president of the Kansas Farm Bureau, said what the Peterson brothers did on their own is exactly what agriculture groups have been trying to get other farmers to do ? use social media to show consumers the real faces of agriculture.

Individual farmers and industry groups have started using Twitter, YouTube and other social media in recent years to counter the messages put out by tech-savvy environmental and animal rights groups concerned about everything from water quality to the size of cages chickens are kept in.

"We think it is a great way to communicate with the consumer and give them an idea of what exactly goes on in agriculture on the farm," Baccus said. "We are being painted by some different groups in a pretty nasty vein, and that is not at all true. I think we need to get the message out there is another side of agriculture."

He said he loved the Peterson brothers' video: "I liked the way they incorporated humor into it, and I just thought they did a fantastic job."

The Peterson brothers have posted other videos about the family farm on YouTube, and Peterson said they'll make more. He keeps his iPod Touch with him as he farms, occasionally pulling it out and filming things.

"That doesn't take any extra time, or really any extra thought," he said. "It is just like, 'This is what I am doing. So I will continue to make those kinds of videos.'"

___

Online:

Peterson brothers' video: http://www.youtube.com/watch?v=48H7zOQrX3U

Associated Press

Source: http://hosted2.ap.org/APDEFAULT/495d344a0d10421e9baa8ee77029cfbd/Article_2012-07-06-Food%20and%20Farm-Viral%20Video/id-2ae8e4da80b04ba288ea178da7eb730e

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Researchers discover gene defect for new syndrome

Monday, July 9, 2012

Research teams from The University of Texas Health Science Center at Houston (UTHealth) and Paris, France have discovered a gene defect linked to a cluster of systemic complications, including life-threatening thoracic aortic disease and intracranial aneurysms. The new syndrome is similar, but distinct from known syndromes such as Marfan and Loeys-Dietz syndrome.

Genome-wide analysis of two unrelated families, one in the United States and one in France, identified mutations in transforming growth factor beta-2 (TGFB2), which plays a key role in the formation of cells in the walls of arteries. These changes can affect the ability of these cells that line the aorta and other blood vessels to function properly, leading to aortic aneurysms and dissections and intracranial aneurysms. Other systemic signs of the new syndrome include groin hernias, pectus deformities, joint hyperflexibility, mitral valve prolapse and skin stretch marks.

The findings were published in the July 8 online of the journal Nature Genetics. The French team included researchers from the Assistance Publique ? Hopitaux de Paris and the Institut National de la Sante et de la Recherche Medic?le (INSERM).

"Identifying this gene as a cause of aortic and intracranial aneurysms can tell us who is at risk in a family before these aneurysms cause an acute aortic dissection or stroke," said Dianna Milewicz, M.D., Ph.D., professor, the President George H.W. Bush Chair in Cardiovascular Research and director of the Division of Medical Genetics at the UTHealth Medical School. "If we know who is at risk, we can prevent these life-threatening complications of these aneurysms before they occur and prevent premature death or disability."

Milewicz is the senior author of the paper, a multi-institutional collaboration. The lead author is Catherine Boileau of INSERM.

Incorrect function of the cells can cause a weakness in the wall of the thoracic aorta, which carries blood from the heart to the rest of the body. The result can be an aneurysm which can lead to a dissection and cause sudden death. An estimated 8,000 people die annually from thoracic aortic aneurysms and dissections (TAAD). Intracranial aneurysms occur in up to 6 percent of adults and are more common in women. Both types of aneurysms are typically asymptomatic and often undetected until a dissection or rupture occurs. Intracranial aneurysms that rupture and bleed into the brain, known as hemorrhagic stroke, have a mortality rate of up to 50 percent, according to the American Heart Association.

For the UTHealth research team, this is the fifth gene defect discovery for thoracic aortic aneurysms and the second with a link to both thoracic aortic aneurysms and intracranial aneurysms.

The researchers found that although the defect caused half of the normal amount of TGFB2 protein, called TGF-beta2, at the cellular level, the actual diseased arteries showed a large increase in TGF-beta2. "So we believe the body responds to less TGF-beta2 by overcompensating and producing more, causing the disease," said Milewicz, who is also director of the John Ritter Research Program Aortic and Vascular Diseases at UTHealth. "The primary defect is less TGF-beta2 with a secondary response to make more."

Milewicz said the availability of exome sequencing through the National Heart, Lung and Blood Institute's (NHLBI) Go Exome Sequencing Project and INSERM in Paris, was a key component in the ability to locate the defective gene in two distantly related cousins in each of the two families. The NHLBI is part of the National Institutes of Health and the sequencing was done at the Northwest Genome Institute at the University of Washington in Seattle.

For family members in the United States, the discovery that they might carry a gene defect helped shed light on their tragic history of losing loved ones in the peak of their lives. It also allowed them to save a younger generation.

"My dad died suddenly at the age of 57 and they told us it was a heart attack," said one of the female members of the American family, which wishes to remain anonymous. "We assume now he died of an aortic dissection. After one of my cousins discovered this might be genetic, we all got tested."

Imaging of the thoracic aorta led to the discovery that one of her brothers, then 35 with young children, had an aortic root enlargement of 5.4 centimeters, large enough to require immediate surgery.

"He was a walking time bomb," she said. "He had surgery in 2005 and seven years later, he's doing great. I'm the most scanned and monitored person in the world, which is fine. As pieces of the puzzle come together, we hope we'll prevent any more premature deaths from this in our family." She undergoes regular echocardiographic and brain magnetic resonance imaging.

###

University of Texas Health Science Center at Houston: http://www.uthouston.edu

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Source: http://www.labspaces.net/121550/Researchers_discover_gene_defect_for_new_syndrome

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