Category Archives: Human Genetics

PUBLIC RELEASE DATE:

4-Apr-2014

Contact: Greg Lester glester@wistar.org 215-898-3943 The Wistar Institute

PHILADELPHIA(April 4, 2014) Colorectal cancer develops in what is probably the most complex environment in the human body, a place where human cells cohabitate with a colony of approximately 10 trillion bacteria, most of which are unknown. At the 2014 American Association for Cancer Research Annual Meeting in San Diego, researchers from The Wistar Institute will present findings that suggest the colon "microbiome" of gut bacteria can change the tumor microenvironment in a way that promotes the growth and spread of tumors.

Their results suggest that bacterial virulence proteins may suppress DNA repair proteins within the epithelial cells that line the colon. The research opens the possibility of modifying colon cancer risk by altering the population makeup of bacteria in the intestines of people at risk due to genetics or environmental exposure.

"There is a drastic, unmet need to look at new ways to define exactly how colon cancer forms in the gut and what triggers its progression into a lethal form," said Frank Rauscher, III, Ph.D., a professor in The Wistar Institute Cancer Center. "We suggest that some bacterial proteins can promote genetic changes that create conditions in the gut that would favor the progression of colon cancer."

While colorectal cancer incidence rates have declined, likely due to more widespread screening, survival rates have not. According to the American Cancer Society, about 50,000 Americans will die from colorectal cancer this year. "While our understanding of the gene mutations involved in colon cancer has improved, this has not lead to the promised increases in overall survival," Rauscher said.

Intestinal bacteria typically provide many benefits to their human hosts, aiding in digestion and crowding out more directly pathogenic bacteria. However, both "friendly" commensal bacteria and infective, pathogenic bacteria have been shown to actively reduce inflammation, an important tool used by the human innate immune system to promote healing and prevent the spread of infection.

In these studies, Rauscher and his colleagues injected anti-inflammatory proteins produced by EPEC (Enteropathogenic Escherichia coli) bacteria into colon epithelial cells. One of these proteins, NLEE, is an enzyme that targets TAB2, a human scaffolding protein involved in the transduction of chemical signals in the NF-B pathway. Targeting TAB2 results in the inactivation of numerous inflammatory activities in the gut.

Rauscher and colleagues looked for other human proteins that could be targeted by NLEE. Remarkably, they found that NLEE also has the capability of shutting off a protein, ZRANB3 involved in DNA repair. If bacterially infected colon cells can no longer repair damage to their DNA, mutations will accumulate, which will promote cancer growth.

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Bacterial gut biome may guide colon cancer progression

Enabled Reduced Analysis Time Per Case, Improved Ability to Track & Query Identified Variants

BOSTON and LEUVEN, Belgium - Cartagenia, the world leader in software-based workflow support for genetic variant assessment, lab reporting, and integration of diagnostic knowledge-bases, today announced that the Human Genetics Laboratory, part of the Munroe-Meyer Institute for Genetics and Rehabilitation (MMI) at the University of Nebraska Medical Center (UNMC), has selected the Cartagenia Bench platform genetics diagnostics solution for use at its healthcare laboratory. Cartagenia Bench is a cloud-based platform that allows genetics labs and clinicians to analyze, interpret, report, and share genomic variants in routine clinical diagnostics.

Jennifer N. Sanmann, PhD, MB(ASCP)(CM)CG(CM), a representative of the Human Genetics Laboratory at UNMC, noted that its laboratory's adoption of Bench has helped them track their lab findings in a single, well-annotated database and has led to significantly reduced report turnaround times.

"Our laboratory's experience with Cartagenia has been a very positive one," Dr. Sanmann said. "The transition from our internally developed system to Bench CNV and Bench NGS went smoothly and was well supported by the Cartagenia team. It has been our experience that the Bench modules have reduced significantly the amount of analysis time per case and have improved our ability to track and query identified variants."

"The boundary between molecular genetics and cytogenetics testing is fading. NGS technology is being adopted to determine structural events; public registries such as ClinVar collect both CNVs and SNPs; and most importantly, structural variation and molecular variation are more and more often used to jointly explain the patient phenotype, and reach a diagnosis," says Steven Van Vooren, Product Marketing Director at Cartagenia. "At Cartagenia, we strongly believe in a 'single platform' approach, where joint clinical interpretation of structural and molecular events comes natural, and is agnostic of the technology used to pick up variants."

The Cartagenia Bench platform is a clinical-grade, medical device software platform that supports the assesment and reporting of structural variants such as copy number gains, losses, and changes in zygosity, as well as molecular events such as single nucleotide events, and small insertions and deletions.

"We see strong growth in labs adopting both our NGS and CNV modules on the Bench platform, and bringing together structural and molecular variants in their interpretation and reporting," says Herman Verrelst, CEO of Cartagenia. "At Cartagenia, we want to facilitate this evolution, allowing labs to automate their workflow as much as possible and use the time won to focus on the clinical setting in which to assess and report variants - whether postnatal, prenatal or in oncology."

About UNMC

UNMC's Human Genetics Laboratory is a CAP and CLIA accredited full service cytogenetic and molecular genetic laboratory combining comprehensive genetic testing with personalized clinical consultation to provide the very best in genetic medicine to every client and patient served. As genetic disease continues to become more widely identifiable, customized technology and new assays are developed and validated, meeting expanding clinician and patient needs through advancements in systems, software, and diagnoses. In addition to diagnostic and research studies in the areas of perinatal, postnatal, and oncology testing, comprehensive services at UNMC include clinical evaluation by licensed genetic counselors and board certified medical geneticists. Visit unmc.edu/geneticslab to learn more.

About Cartagenia

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University of Nebraska Medical Center Selects Cartagenia Bench Platform for NGS and Array ...

PUBLIC RELEASE DATE:

1-Apr-2014

Contact: Kathy Beal kbeal@acmg.net 301-238-4582 American College of Medical Genetics

Jun Shen, PhD was honored as the 2014 recipient of the ACMG Foundation/Signature Genomics from PerkinElmer, Inc. Travel Award at the American College of Medical Genetics and Genomics (ACMG) 2014 Annual Clinical Genetics Meeting in Nashville, TN.

Dr. Shen was selected to receive the award for her platform presentation, "Clinical Validation of a Novel Combinatorial Algorithm that Predicts Pathogenicity of Human Missense Variants with High Accuracy."

Dr. Shen completed her PhD in Neurobiology at Harvard University, and completed her Postdoctoral Fellowship in Neurobiology with a focus on the inner ear at Howard Hughes Medical Institution/Harvard Medical School. Dr. Shen received her Bachelor of Arts in Biochemistry, Molecular Biology and Computer Science at Dartmouth College. She is currently an Instructor in Pathology at Brigham and Women's Hospital and Harvard Medical School and an Assistant Laboratory Director, Laboratory for Molecular Medicine, Partners HealthCare Center for Personalized Genetic Medicine.

The ACMG Foundation/Signature Genomics Travel Award is given to an ACMG Trainee member whose abstract submission was chosen as a platform presentation during the ACMG Annual Clinical Genetics Meeting. The ACMG Program Committee selects the Travel Award recipient based on scientific merit. In recognition of the selected presentation, Signature Genomics covers the travel costs for the recipient to the ACMG meeting.

"The Foundation for Genetic and Genomic Medicine is grateful to Signature Genomics for its continued generous support of the development of medical genetic researchers through this Travel Award," said Bruce R. Korf, MD, PhD FACMG, president of the ACMG Foundation for Genetic and Genomic Medicine.

"Signature Genomics is pleased to support the recognition of young researchers like Dr. Shen who are working in the field of genetics and genomics. This presentation is just one of the many outstanding presentations at the 2014 ACMG Annual Meeting," said Beth Torchia, PhD, FACMG, Technical Laboratory Director at Signature Genomics from PerkenElmer, Inc.

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2014 ACMG Foundation/Signature Genomic Labs, PerkinElmer Inc. Travel Award winner

Can mathematics predict the future of Bit Coins?
A numbers game -- how mathematics and statistics control the world Through advanced calculations scientists uncover the hidden patterns of the world. Turns o...

By: Crosstalks TV

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Can mathematics predict the future of Bit Coins? - Video

It's not a hair-brained idea: A new research report appearing in the April 2014 issue of The FASEB Journal explains why people with a rare balding condition called "atrichia with papular lesions" lose their hair, and it identifies a strategy for reversing this hair loss. Specifically the report shows for the first time that the "human hairless gene" imparts an essential role in hair biology by regulating a subset of other hair genes. This newly discovered molecular function likely explains why mutations in the hairless gene contribute to the pathogenesis of atrichia with papular lesions. In addition, this gene also has also been shown to function as a tumor suppressor gene in the skin, raising hope for developing new approaches in the treatment of skin disorders and/or some cancers.

"Identification of hairless as a histone demethylase may shed new insights into its mechanism of action in regulating skin and hair disorders," said Angela M. Christiano, Ph.D., FACMG, a researcher involved in the work from the Departments of Dermatology and Genetics and Development at the Columbia University College of Physicians and Surgeons in New York, NY. "The genes identified in this study could open up new opportunities for developing mechanism-driven approaches for future prevention or treatment of skin diseases including skin cancer and rare forms of hair loss."

To make their discovery, Christiano and colleagues defined the histone demethylase function of the human hairless gene, both in vitro and using cultured human cells. When the hairless protein was mixed with specific histone substrates under defined reaction conditions, the hairless protein causes a reduction in the level of methylation modification of the histone substrates. Similarly, upon expression of normal hairless protein, but not a mutant form of the hairless protein, researchers observed a drastic loss of histone methylation in human cells. This suggests that this may be the "on/off" switch for hair growth as well as a promising target for some types of skin disease.

"Humans have tried everything to keep their hair, from snake oils to spray-on bald spot solutions," said Gerald Weissmann, M.D., Editor-in-Chief of The FASEB Journal. "Now, however, we are finally getting to the root of the problem to manipulate one of the switches that control hair growth."

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The above story is based on materials provided by Federation of American Societies for Experimental Biology. Note: Materials may be edited for content and length.

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Human 'hairless' gene identified: One form of baldness explained

PUBLIC RELEASE DATE:

1-Apr-2014

Contact: Cody Mooneyhan cmooneyhan@faseb.org 301-634-7104 Federation of American Societies for Experimental Biology

It's not a hair-brained idea: A new research report appearing in the April 2014 issue of The FASEB Journal explains why people with a rare balding condition called "atrichia with papular lesions" lose their hair, and it identifies a strategy for reversing this hair loss. Specifically the report shows for the first time that the "human hairless gene" imparts an essential role in hair biology by regulating a subset of other hair genes. This newly discovered molecular function likely explains why mutations in the hairless gene contribute to the pathogenesis of atrichia with papular lesions. In addition, this gene also has also been shown to function as a tumor suppressor gene in the skin, raising hope for developing new approaches in the treatment of skin disorders and/or some cancers.

"Identification of hairless as a histone demethylase may shed new insights into its mechanism of action in regulating skin and hair disorders," said Angela M. Christiano, Ph.D., FACMG, a researcher involved in the work from the Departments of Dermatology and Genetics and Development at the Columbia University College of Physicians and Surgeons in New York, NY. "The genes identified in this study could open up new opportunities for developing mechanism-driven approaches for future prevention or treatment of skin diseases including skin cancer and rare forms of hair loss."

To make their discovery, Christiano and colleagues defined the histone demethylase function of the human hairless gene, both in vitro and using cultured human cells. When the hairless protein was mixed with specific histone substrates under defined reaction conditions, the hairless protein causes a reduction in the level of methylation modification of the histone substrates. Similarly, upon expression of normal hairless protein, but not a mutant form of the hairless protein, researchers observed a drastic loss of histone methylation in human cells. This suggests that this may be the "on/off" switch for hair growth as well as a promising target for some types of skin disease.

"Humans have tried everything to keep their hair, from snake oils to spray-on bald spot solutions," said Gerald Weissmann, M.D., Editor-in-Chief of The FASEB Journal. "Now, however, we are finally getting to the root of the problem to manipulate one of the switches that control hair growth."

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Receive monthly highlights from The FASEB Journal by e-mail. Sign up at http://www.faseb.org/fjupdate.aspx. The FASEB Journal is published by the Federation of the American Societies for Experimental Biology (FASEB). It is among the most cited biology journals worldwide according to the Institute for Scientific Information and has been recognized by the Special Libraries Association as one of the top 100 most influential biomedical journals of the past century.

FASEB is composed of 26 societies with more than 115,000 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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The human 'hairless' gene identified: One form of baldness explained

PUBLIC RELEASE DATE:

31-Mar-2014

Contact: Kate Richards media@camh.ca 416-595-6015 Centre for Addiction and Mental Health

(Toronto) March 31, 2014 Researchers at the Centre for Addiction and Mental Health have discovered two new genes linked to intellectual disability, according to two research studies published concurrently this month in the journals Human Genetics and Human Molecular Genetics.

"Both studies give clues to the different pathways involved in normal neurodevelopment," says CAMH Senior Scientist Dr. John Vincent, who heads the MiND (Molecular Neuropsychiatry and Development) Laboratory in the Campbell Family Mental Health Research Institute at CAMH. "We are building up a body of knowledge that is informing us which kinds of genes are important to, and involved in, intellectual disabilities."

In the first study, Dr. Vincent and his team used microarray genotyping to map the genes of a large Pakistani family which had intermarriage. Five members of the youngest generation were affected with mild to moderate intellectual disability. Dr. Vincent identified a truncation in the FBXO31 gene, which plays a role in the way that proteins are processed during development of neurons, particularly in the cerebellar cortex.

In the second study, using the same techniques, Dr. Vincent and his team analyzed the genes of two families with intermarriage, one Austrian and one Pakistani, and identified a disruption in the METTL23 gene linked to mild recessive intellectual disability. The METTL23 gene is involved in methylationa process important to brain development and function.

About one per cent of children worldwide are affected by non-syndromic (i.e., the absence of any other clinical features) intellectual disability, a condition characterized by an impaired capacity to learn and process new or complex information, leading to decreased cognitive functioning and social adjustment. Although trauma, infection and external damage to the unborn fetus can lead to an intellectual disability, genetic defects are a principal cause.

These studies were part of an ongoing study of affected families in Pakistan, where the cultural tradition of large families and consanguineous (inter-) marriages among first cousins increases the likelihood of inherited intellectual disability in offspring.

"Although it is easier to find and track genes in consanguineous families, these genes are certainly not limited to them," Dr. Vincent points out. A recent study estimated that 13 per cent of intellectual disability cases among individuals of European descent are caused when an individual inherits two recessive genes, meaning that results of this study are very relevant to populations such as Canada.

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CAMH researcher discovers 2 new genes linked to intellectual disability

I died in the fire! (Halo: Reach The Hidden Ep.1)
In the early 1950s, during the post war boom in military research, human genetics experiments were taking their first, tentative steps. A team of scientists ...

By: TheRandomiser118

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I died in the fire! (Halo: Reach The Hidden Ep.1) - Video

Human DNA has much in common with the DNA of the humble yeast cell.

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(CNN) -- Look miles into the future and imagine a day, when geneticists can design a flawless set of human genes in a laboratory.

That future vision may never arrive, but it has taken a step closer.

Scientists have built a designer chromosome and inserted it into a cell, geneticist Jef Boeke from New York University announced this week.

The chromosome was a heavily altered version, a departure from its natural counterpart. A team of scientists from around the world made 500 changes to its genetic base.

"When you change the genome, you're gambling," said Boeke, who led the project. "One wrong change can kill the cell."

But the cell survived and made use of its new chromosome. It also reproduced, and subsequent cells carried the new chromosome forward.

Actually, make this breakthrough a second step closer to that way-out-there future.

Researchers were already able to duplicate a chromosome on a computer four years ago, build it in the lab, insert it into a cell and watch it work.

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Designer genes take a leap forward

How can mathematics help us? Crosstalks on maths and statistics in everyday life.
A numbers game -- how mathematics and statistics control the world Through advanced calculations scientists uncover the hidden patterns of the world. Turns o...

By: Crosstalks TV

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How can mathematics help us? Crosstalks on maths and statistics in everyday life. - Video