Category Archives: Gene Medicine

31-01-2012 08:03 The drug Kalydeco has been approved to treat patients with one of the mutations that cause cystic fibrosis. FDA's Stephen Spielberg, MD, Ph.D, tells how this targeted treatment represents how personalized medicine will revolutionize health care.

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Cystic Fibrosis Drug is Personalized Medicine - Video

09-01-2012 15:30 January 6, 2012 - The Genomics in Medicine Lecture Series More: http://www.genome.gov

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Breast Cancer Genes, Risk Assessment and Screening - Lawrence Brody - Video

29-01-2012 01:33 More fun with lip-synching and hats. This is my fourth video like this so far. You can find the others in my "Hat Tricks" playlist. The song is called "Too Much Weed". It's a friendly look at figuring out when enough is enough. In my experience, no medicine works if you get the dose wrong. This song is from my album "Undiscovered~Part One" and, like all of my songs, it's available for downloading free or with a donation at http://www.GeneBurnett.com It's also available at iTunes and CD Baby and other e-retailers of music, where it might be faster and easier to find...but it'll cost you a buck. Created on January 28, 2012 using FlipShare.

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Too Much Weed~Gene Burnett - Video

ScienceDaily (Feb. 6, 2012) — Researchers at MassGeneral Hospital for Children (MGHfC), The Jackson Laboratory and other institutes have uncovered 27 new candidate genes for congenital diaphragmatic hernia (CDH), a common and often deadly birth defect.

Their sophisticated data-filtering strategy, which uses gene expression during normal development as a starting point, offers a new, efficient and potentially game-changing approach to gene discovery.

Babies born with CDH -- representing one in every 3,000 live births -- have a hole in the diaphragm that separates the abdominal cavity from the chest cavity, and may die due to poor growth of the lung.

Patricia K. Donahoe, M.D., director of the Pediatric Surgical Research Laboratories at MGHfC, explained, "That hole can be fixed surgically if CDH has been diagnosed in time. But even surgery does not rescue the infants' impaired lung development, which often leads to fatal respiratory complications." Patients who survive into adulthood "tend to have a lot of ongoing health issues," she noted.

Donahoe and her colleagues Meaghan Russell, Ph.D., and Mauro Longoni, M.D., and Jackson Laboratory Professor Carol J. Bult, Ph.D., a computational biologist, led the research, published in the Proceedings of the National Academy of Sciences. The team had two goals: to identify the genes and gene networks that cause the hole in the diaphragm in order to develop new diagnostics and preventive treatments, and to learn more about how healthy lungs form to boost lung development in post-operative infant patients.

Bult and her Jackson colleague Julie Wells, Ph.D., generated gene expression profiles -- snapshots of gene activity -- for embryonic mouse diaphragms at multiple stages of development. Using algorithms designed by the JAX-MGH team, they used these data to then predict genes likely to contribute to diaphragm defects.

Bult said, "We asked which genes in our developmental data sets work together in common pathways, and which of these pathways contain previously known CDH genes from human studies and mouse models?"

To build gene networks, the researchers used the Mouse Genome Informatics (MGI) data base resource based at The Jackson Laboratory. MGI, freely available to the research community, maintains the most comprehensive collection of mouse genetic and genomic information.

The researchers' filtering strategy identified 27 new candidate genes for CDH. When the investigators examined the diaphragms of knockout mice for one of these candidate genes -- pre-B cell leukemia transcription factor 1 or Pbx1 -- they found previously unreported diaphragmatic defects, confirming the prediction.

The next step in the project is to screen patients for mutations in Pbx1 using the collection of CDH patient data and DNA that MGHfC and Children's Hospital Boston have been accumulating for years in collaboration with hospitals from around the world.

The research reported in the paper opens the door "not only to further research to explore the effects of the other 26 CDH candidate genes," Bult said, "but to a disease gene identification and prioritization strategy for CDH, an approach that can be extended to other diseases and developmental anomalies."

MassGeneral Hospital for Children is the pediatric service of Massachusetts General Hospital (www.massgeneral.org), the original and largest teaching hospital of Harvard Medical School. The MGH conducts the largest hospital-based research program in the United States, with an annual research budget of more than $750 million and major research centers in AIDS, cardiovascular research, cancer, computational and integrative biology, cutaneous biology, human genetics, medical imaging, neurodegenerative disorders, reproductive biology, regenerative medicine, reproductive biology, systems biology, transplantation biology and photomedicine.

The Jackson Laboratory is an independent, nonprofit biomedical research institution and National Cancer Institute-designated Cancer Center based in Bar Harbor, Maine, with a facility in Sacramento, Calif., a future institute in Farmington, Conn., and a total staff of about 1,400. Its mission is to discover the genetic basis for preventing, treating and curing human disease, and to enable research and education for the global biomedical community.

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The above story is reprinted from materials provided by Jackson Laboratory.

Note: Materials may be edited for content and length. For further information, please contact the source cited above.

Journal Reference:

Russell et al. Congenital diaphragmatic hernia candidate genes derived from embryonic transcriptomes. Proceedings of the National Academy of Sciences, 2012 DOI: 10.1073/pnas.1121621109

Note: If no author is given, the source is cited instead.

Disclaimer: This article is not intended to provide medical advice, diagnosis or treatment. Views expressed here do not necessarily reflect those of ScienceDaily or its staff.

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Clues to common birth defect found in gene expression data

Published in the Feb. 3 early online issue of EMBO Molecular Medicine, the study explored an inherited mutation located in part of the KRAS gene, which leads to abnormal endometrial growth and endometrial risk. In endometriosis, uterine tissue grows in other parts of the body, such as the abdominal cavity, ovaries, vagina, and cervix. The condition is often hereditary and is found in 5%-15% of women of reproductive age, affecting over 70 million women worldwide.

Although the disorder has been studied for many years, its exact cause and how it develops remained unclear. It was previously shown that activating the KRAS gene caused mice to develop endometriosis. However, no mutations in this gene have been identified in women with endometriosis.

Led by senior author Hugh S. Taylor, M.D., professor and chief of the Division of Reproductive Endocrinology and Infertility in the Department of Obstetrics, Gynecology & Reproductive Sciences, the authors studied 132 women with endometriosis and evaluated them for a newly identified mutation in the region of the KRAS gene responsible for regulation. This mutation was previously linked to an increased risk of lung and ovarian cancer by study co-author Joanne Weidhaas, M.D., assistant professor of therapeutic radiology.

"We found that 31% of the women with endometriosis in the study carried this mutation, compared to only 5.8% of the general population," said Taylor. "The presence of this mutation was also linked to higher KRAS protein levels and associated with an increased capacity for these cells to spread. It also may explain the higher risk of ovarian cancer in women who have had endometriosis."

The Yale team is the first to identify a cause of this common and previously little understood disease. "This mutation potentially represents a new therapeutic target for endometriosis as well as a basis of potential screening methods to determine who is at risk for developing endometriosis," said Taylor.

More information: EMBO Molecular Medicine, DOI:10.1002/emmm.201100200

Provided by Yale University (news : web)

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Gene mutation discovery sparks hope for effective endometriosis screening

23-11-2011 22:10 There's a new way to explore biologys secrets. With a flash of light, scientists from the US Department of Energys Lawrence Berkeley National Laboratory and the University of California, Berkeley zeroed in on the type of neural cell that controls swimming in larval zebrafish. Using innovative light-activated proteins and gene expression techniques, the scientists zapped several zebrafish with a pulse of light, and initiated a swimming action in a subset of fish that was traced back to the type of neuron that drives the side-to-side motion of their tail fins. The technique behind this needle-in-haystack search for the neural roots of a specific behavior could become a powerful way to learn how any biological system works. newscenter.lbl.gov This three-dimensional microscopy image reveals an output neuron of the optic tectum lighting up in response to visual information from the retina. The scientists used this state-of-the-art imaging technology to learn how neurons in the optic tectum take visual information and convert it into an output that drives action. More information: newscenter.lbl.gov Dendrite growth and synaptogenesis in larval zebrafish optic tectum

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Electro-Medicine : Neurons function revealed - Video