Category Archives: Human Genetics

PUBLIC RELEASE DATE:

22-Jan-2014

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

Do you cover genetics, genomics, healthcare or medicine? The media are invited to register now for the American College of Medical Genetics and Genomics Annual Clinical Genetics Meeting, March 25-29, 2014 at the Nashville Convention Center.

From Incidental Findings to Whole Genome/Exome Sequencing to Cancer Genetics, the focus of the ACMG Meeting is on the actual practice of genetics and genomics in healthcare, showcasing the latest breakthroughs in genetics research and its practical applications to medical practice. The ACMG Annual Meeting attracts medical and scientific leaders from around the world working to apply research in the human genome to the diagnosis, management, treatment and prevention of genetic conditions and rare and common diseases.

Reporters will hear about the latest medical genetics research; have the opportunity to interact with doctors, laboratory professionals and genetic counselors about what is happening right now in genetics and genomics; and view the latest products available in the extensive exhibit hall.

Topics range from common conditions to rare diseases. Sessions include information of interest to the general public, to health professionals and to the industry/trade.

The ACMG Meeting is the genetics meeting most focused on the practical applications of genetic discoveries in the clinical setting. And the 2014 Meeting is already shattering records with a record number of abstracts submitted and attendee registration to date is at an all-time high.

Two Genetics Short Courses on Tuesday, March 25:

Program Highlights:

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Complimentary press registration now open for ACMG 2014 Annual Clinical Genetics Meeting

Hertz Fellow David Galas - Chairman of the Board Hertz Foundation
David J. Galas, Hertz Fellow and Chairman of the Fannie and John Hertz Foundation Board of Directors, is Principal Scientist for the Pacific Northwest Diabet...

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Hertz Fellow David Galas - Chairman of the Board Hertz Foundation - Video

EndoPredict is a second-generation, multigene prognostic test kit for patientsdiagnosed with breast cancer. Under the agreement, Myriad will receive comprehensive marketing rights todistribute and sell EndoPredict, including in high-growth markets in Europe.The agreement will leverage Myriad's 45-person international commercial teamand will significantly increase the number of medical specialists and salesprofessionals supporting EndoPredict. Specific terms of the deal were notdisclosed. EndoPredict provides physicians with information to devise personalizedtreatment plans for their breast cancer patients. The EndoPredict test kitformat is an ideal platform for use by clinical pathologists, who desire toconduct testing within their own laboratories. In contrast to older multi-genetests, EndoPredict detects the likelihood of late metastases (i.e., metastasisformation after more than five years) and can thus guide treatment decisionsfor chemotherapy as well as extended anti-hormonal therapy. Accordingly,therapy decisions backed by EndoPredict confer a high level of diagnosticsafety. EndoPredict was shown to accurately predict cancer-specific diseaseprogression and metastasis in multiple clinical outcome studies with more than2,200 patients. 'Myriad has a significant opportunity to leverage our international presence,and we are pleased to be partnering with Sividon to make EndoPredict even morewidely available to patients in Europe and worldwide,' said Gary King,Executive Vice President, International Operations, Myriad Genetics. 'We arecommitted to contributing to the health of people in Europe through a strongsales and marketing organization that provides enhanced access to life-savingproducts for patients and cost effective solutions for healthcare providers.Myriad's team of field specialists will support EndoPredict's current customersin liaison with Sividon's medical expert team, thus providing additional levelsof support and contact.' 'Sividon's EndoPredict, backed by compelling evidence from clinical studieswith thousands of patients combined with Myriad's strong commercial capabilityand coverage in many key countries creates an outstanding partnership,' saidDr. Christoph Petry, CEO of Sividon Diagnostics. 'Breast cancer affects thelife of more than 388,000 women per year in Europe, and EndoPredict will helpto significantly improve their cancer treatment. We are delighted to partnerwith Myriad to help save and improve the lives of more women with breastcancer.' About Myriad Genetics GmbHMyriad Genetics GmbH is based in Zurich, Switzerland and is the internationalsubsidiary of Myriad Genetics Inc., a leading molecular diagnostic companydedicated to making a difference in patients' lives through the discovery andcommercialization of transformative tests to assess a person's risk ofdeveloping disease, guide treatment decisions and assess risk of diseaseprogression and recurrence. Myriad's molecular diagnostic tests are based on anunderstanding of the role genes play in human disease and were developed with acommitment to improving an individual's decision making process for monitoringand treating disease. Myriad is focused on strategic directives to introducenew products, including companion diagnostics, as well as expandinginternationally. For more information on how Myriad Genetics GmbH is making adifference, please visit the Company's website: http://www.myriad.ch. Myriad and theMyriad logo are trademarks or registered trademarks of Myriad Genetics, Inc. inthe United States and worldwide. MYGN-F, MYGN-G About SividonSividon Diagnostics GmbH was founded in 2010 as a management buyout fromSiemens Healthcare Diagnostics in Cologne, Germany. Sividon is dedicated todevelop modern methods for the molecular pathology laboratory to help improvethe quality of care for cancer patients. Sividon's first product, EndoPredict,has been introduced into the market in 2011 and allows for a moreindividualized therapy management in breast cancer. For more information onSividon please visit the Sividon's website at http://www.sividon.com. Sividon, theSividon logo and EndoPredict are registered trademarks of Sividon DiagnosticsGmbH in Germany and other countries. Safe Harbor StatementThis press release contains 'forward-looking statements' within the meaning ofthe Private Securities Litigation Reform Act of 1995, including statementsrelating to the EndoPredict test and Myriad's partnering with Sividon to marketthe EndoPredict test in Europe and worldwide; and the Company's strategicdirectives under the caption 'About Myriad Genetics.' These 'forward-lookingstatements' are management's present expectations of future events and aresubject to a number of risks and uncertainties that could cause actual resultsto differ materially and adversely from those described in the forward-lookingstatements. These risks include, but are not limited to: the risk that salesand profit margins of our existing molecular diagnostic tests and companiondiagnostic services may decline or will not continue to increase at historicalrates; risks related to changes in the governmental or private insurersreimbursement levels for our tests; the risk that we may be unable to developor achieve commercial success for additional molecular diagnostic tests andcompanion diagnostic services in a timely manner, or at all; the risk that wemay not successfully develop new markets for our molecular diagnostic tests andcompanion diagnostic services, including our ability to successfully generaterevenue outside the United States; the risk that licenses to the technologyunderlying our molecular diagnostic tests and companion diagnostic servicestests and any future tests are terminated or cannot be maintained onsatisfactory terms; risks related to delays or other problems with opeRatingour laboratory testing facilities; risks related to public concern over ourgenetic testing in general or our tests in particular; risks related toregulatory requirements or enforcement in the United States and foreigncountries and changes in the structure of the healthcare system or healthcarepayment systems; risks related to our ability to obtain new corporatecollaborations or licenses and acquire new technologies or businesses onsatisfactory terms, if at all; risks related to our ability to successfullyintegrate and derive benefits from any technologies or businesses that welicense or acquire; risks related to increased competition and the developmentof new competing tests and services; the risk that we or our licensors may beunable to protect or that third parties will infringe the proprietarytechnologies underlying our tests; the risk of patent-infringement claims orchallenges to the validity of our patents; risks related to changes inintellectual property laws covering our molecular diagnostic tests andcompanion diagnostic services and patents or enforcement in the United Statesand foreign countries, such as the Supreme Court decision in the lawsuitbrought against us by the Association for Molecular Pathology et al; risks ofnew, changing and competitive technologies and regulations in the United Statesand internationally; and other factors discussed under the heading 'RiskFactors' contained in Item 1A of our most recent Annual Report on Form 10-Kfiled with the Securities and Exchange Commission, as well as any updates tothose risk factors filed from time to time in our Quarterly Reports on Form10-Q or Current Reports on Form 8-K. All information in this press release isas of the date of the release, and Myriad undertakes no duty to update thisinformation unless required by law. CONTACT: Media Contacts:Ron Rogers(801) 584-3065rrogers@myriad.comEstherLinnenberg+49-221-66956170linnenberg@sividon.comInvestor Contact:ScottGleason(801) 584-1143sgleason@myriad.comNews Source: NASDAQ OMXEnd of Corporate News---------------------------------20.01.2014 Dissemination of a Corporate News, transmitted by DGAP - acompany of EQS Group AG.The issuer is solely responsible for the content of this announcement.DGAP's Distribution Services include Regulatory Announcements,Financial/Corporate News and Press Releases.Media archive at http://www.dgap-medientreff.de and http://www.dgap.de---------------------------------Language: English Company: Myriad Genetics, Inc. United States ISIN: US62855J1043 End of News DGAP News-Service --------------------------------- 248572 20.01.2014

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Myriad Genetics and Sividon Diagnostics Announce Exclusiv.

Angelina Jolie: I feel great, I feel wonderful, and I'm very, very grateful for all the support, it's meant a lot to me. I've been very happy just to see the discussion about women's health expanded and that means the world to me, and after losing my mom to these issues I'm very grateful for it, and I've been very moved by the kind support from people, really very grateful for it.

Joel Werner: Hi, and welcome to the Health Report. I'm Joel Werner. And that was Angelina Jolie. It's been almost a month since she announced via a New York Times op-ed that she'd chosen to have a preventative double mastectomy, a decision reached after learning she carried a mutation on the BRCA1, or Braca-one gene. It was a revelation that resonated around the globe.

Clara Gaff: I thought it was very courageous of her to make public what for many people is a very private decision, and to let people know what was possible and to encourage people in similar situations to her to find out what their situation is and make their own choices.

Joel Werner: Associate Professor Clara Gaff is a genetic counsellor. She's also manager of genomic medicine at the Walter and Eliza Hall Institute for Medical Research. While Clara's reaction to Jolie's Times article epitomised that of many, her colleague Professor Geoff Lindeman wasn't quite so absolute in his praise.

Geoff Lindeman: I think it was somewhat of a mixed blessing. It's always good to have appropriate publicity in this area so that people can be aware, but similarly I think many women must have felt that they had the sword of Damocles hanging over their heads, and that's not necessarily the case for the vast majority of women and even for women who have mutations in the BRCA1 or 2 genes.

Joel Werner: Today on the Health Report it's part two in our special on breast cancer in Australia, and this week we're examining the role genetics plays in the diagnosis and treatment of the disease.

Over the past month, BRCA1 and 2 have been the most heavily publicised genes in the world; celebrity alleles of the human genome. But have you stopped to ask yourself what they actually are? Or how they influence the development of cancer?

Geoff Lindeman is head of the familial cancer centre at Melbourne Hospital, and joint head of breast cancer research at the Walter and Eliza Hall Institute.

Geoff Lindeman: So these were genes that were discovered in the mid-1990s that were identified through women who had a very high risk of breast or ovarian cancer running in their families. The discovery of these genes really helped us to understand their role in helping keep cancer in check. They are basically suppressor genes which help repair DNA in our genome that has become damaged. And for reasons that we still don't fully understand, breast and ovarian cancer are quite prominent amongst the things that can go wrong when there is a fault in these genes.

Joel Werner: And that's the thing, it's when you have mutations in these genes that things go wrong.

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Breast cancer in Australia: Breast cancer genetics

In the study of rare disorders, four general patterns of inheritance are distinguishable by pedigree analysis: autosomal recessive, autosomal dominant, X-linked recessive, and X-linked dominant.

The affected phenotype of an autosomal recessive disorder is determined by a recessive allele, and the corresponding unaffected phenotype is determined by a dominant allele. For example, the human disease phenylketonuria is inherited in a simple Mendelian manner as a recessive phenotype, with PKU determined by the allele p and the normal condition by P . Therefore, sufferers from this disease are of genotype p /p , and people who do not have the disease are either P /P or P /p . What patterns in a pedigree would reveal such an inheritance? The two key points are that (1) generally the disease appears in the progeny of unaffected parents and (2) the affected progeny include both males and females. When we know that both male and female progeny are affected, we can assume that we are dealing with simple Mendelian inheritance, not sex-linked inheritance. The following typical pedigree illustrates the key point that affected children are born to unaffected parents:

From this pattern, we can immediately deduce simple Mendelian inheritance of the recessive allele responsible for the exceptional phenotype (indicated in black). Furthermore, we can deduce that the parents are both heterozygotes, say A /a ; both must have an a allele because each contributed an a allele to each affected child, and both must have an A allele because they are phenotypically normal. We can identify the genotypes of the children (in the order shown) as A /, a /a , a /a , and A /. Hence, the pedigree can be rewritten as follows:

Note that this pedigree does not support the hypothesis of X-linked recessive inheritance, because, under that hypothesis, an affected daughter must have a heterozygous mother (possible) and a hemizygous father, which is clearly impossible, because he would have expressed the phenotype of the disorder.

Notice another interesting feature of pedigree analysis: even though Mendelian rules are at work, Mendelian ratios are rarely observed in families, because the sample size is too small. In the preceding example, we see a 1:1 phenotypic ratio in the progeny of a monohybrid cross. If the couple were to have, say, 20 children, the ratio would be something like 15 unaffected children and 5 with PKU (a 3:1 ratio); but, in a sample of 4 children, any ratio is possible, and all ratios are commonly found.

The pedigrees of autosomal recessive disorders tend to look rather bare, with few black symbols. A recessive condition shows up in groups of affected siblings, and the people in earlier and later generations tend not to be affected. To understand why this is so, it is important to have some understanding of the genetic structure of populations underlying such rare conditions. By definition, if the condition is rare, most people do not carry the abnormal allele. Furthermore, most of those people who do carry the abnormal allele are heterozygous for it rather than homozygous. The basic reason that heterozygotes are much more common than recessive homozygotes is that, to be a recessive homozygote, both parents must have had the a allele, but, to be a heterozygote, only one parent must carry the a allele.

Geneticists have a quantitative way of connecting the rareness of an allele with the commonness or rarity of heterozygotes and homozygotes in a population. They obtain the relative frequencies of genotypes in a population by assuming that the population is in Hardy-Weinberg equilibrium, to be fully discussed in Chapter 24 . Under this simplifying assumption, if the relative proportions of two alleles A and a in a population are p and q , respectively, then the frequencies of the three possible genotypes are given by p 2 for A /A , 2pq for A /a , and q 2 for a /a . A numerical example illustrates this concept. If we assume that the frequency q of a recessive, disease-causing allele is 1/50, then p is 49/50, the frequency of homozygotes with the disease is q 2 =(1/50)2 =1/250, and the frequency of heterozygotes is 2pq =249/501/50 , or approximately 1/25. Hence, for this example, we see that heterozygotes are 100 times as frequent as disease sufferers, and, as this ratio increases, the rarer the allele becomes. The relation between heterozygotes and homozygotes recessive for a rare allele is shown in the following illustration. Note that the allele frequencies p and q can be used as the gamete frequencies in both sexes.

The formation of an affected person usually depends on the chance union of unrelated heterozygotes. However, inbreeding (mating between relatives) increases the chance that a mating will be between two heterozygotes. An example of a marriage between cousins is shown in . Individuals III-5 and III-6 are first cousins and produce two homozygotes for the rare allele. You can see from that an ancestor who is a heterozygote may produce many descendants who also are heterozygotes. Hence two cousins can carry the same rare recessive allele inherited from a common ancestor. For two unrelated persons to be heterozygous, they would have to inherit the rare allele from both their families. Thus matings between relatives generally run a higher risk of producing abnormal phenotypes caused by homozygosity for recessive alleles than do matings between nonrelatives. For this reason, first-cousin marriages contribute a large proportion of the sufferers of recessive diseases in the population.

Pedigree of a rare recessive phenotype determined by a recessive allele a . Gene symbols are normally not included in pedigree charts, but genotypes are inserted here for reference. Note that individuals II-1 and II-5 marry into the family; they are assumed (more...)

What are some examples of human recessive disorders? PKU has already served as an example of pedigree analysis, but what kind of phenotype is it? PKU is a disease of processing of the amino acid phenylalanine, a component of all proteins in the food that we eat. Phenylalanine is normally converted into tyrosine by the enzyme phenylalanine hydroxylase:

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Human genetics - An Introduction to Genetic Analysis - NCBI ...

Human Genetics Truth - Lloyd Pye
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Human Genetics Truth - Lloyd Pye - Video

The Journal of Human Genetics is the official journal of the Japan Society of Human Genetics, publishing high-quality original research articles, short communications, reviews, correspondences and editorials on all aspects of human genetics and genomics. It is the leading genetics journal based in the Asia-Pacific region.

*** Announcing Open ***

Journal of Human Genetics now offers authors the option to publish their articles with immediate open access upon publication. Open access articles will also be deposited on PubMed Central at the time of publication and will be freely available immediately. Find out more from the FAQs page.

Special section on Epigenomics

The special section on epigenomics in the July 2013 issue of Journal of Human Genetics features review and original articles by top-level epigenetic researchers covers various topics of epigenetic research, both basic and clinical.

Pharmacogenomics: Recent advances and future directions

The Journal of Human Genetics is pleased to present its first "special section" in the June issue of the journal. These special sections are designed to bring together collections of papers on specific topics of interest; guest editors curate the section, inviting contributions from leading researchers in the field. The topic of the first special section is pharmacogenomics, featuring eight articles on the current state of pharmacogenomics research and its implementation in the clinic.

Biomedical Genomics Series Web Focus - Cancer

The Journal of Human Genetics is delighted to present the latest from the Series on Biomedical Genomics, a Web Focus on Cancer. The Focus includes reports covering genetic research into identifying risk and associations with Breast Cancer, lung squamous cell carcinoma, adenocarcinoma, and cervical cancer in different populations, such as Korean, Chinese, Japanese and Amerindian.

Biomedical Genomics Series Web Focus - Neuropsychiatric Disease

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Journal of Human Genetics - Nature

Human Genetics: Final Project
This video is on perfect pitch and the genetics of it. Also, this video talks about valproate and how it can help you get perfect pitch.

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Human Genetics: Final Project - Video

A colour map shows gradients of myelin in a human brain, red and yellow indicating high myelin and darker colours indicating low myelin. | credits: New York Times Service

Deanna Barch talks fast, as if she doesnt want to waste any time getting to the task at hand, which is substantial. She is one of the researchers here at Washington University working on the first interactive wiring diagram of the living, working human brain.

To build this diagram she and her colleagues are doing brain scans and cognitive, psychological, physical and genetic assessments of 1,200 volunteers. They are more than a third of the way through collecting information. Then comes the processing of data, incorporating it into a three-dimensional, interactive map of the healthy human brain showing structure and function, with detail to 1.5 cubic millimeters, or less than 0.0001 cubic inches.

Barch is explaining the dimensions of the task, and the reasons for undertaking it, as she stands in a small room, where multiple monitors are set in front of a window that looks onto an adjoining room with an MRI machine, in the psychology building. She asks a research assistant to bring up an image.

Its all there, she says, reassuring a reporter who has just emerged from the machine, and whose brain is on display.And so it is, as far as the parts are concerned: cortex, amygdala, hippocampus and all the other regions and subregions, where memories, fear, speech and calculation occur. But this is just a first go-round. It is a static image, in black and white.

There are hours of scans and tests yet to do, though the reporter is doing only a demonstration and not completing the full routine.

Each of the 1,200 subjects whose brain data will form the final database will spend a good 10 hours over two days being scanned and doing other tests. The scientists and technicians will then spend at least another 10 hours analyzing and storing each persons data to build something that neuroscience does not yet have: a baseline database for structure and activity in a healthy brain that can be cross-referenced with personality traits, cognitive skills and genetics. And it will be online, in an interactive map available to all.

Dr. Helen Mayberg, a doctor and researcher at the Emory University School of Medicine, who has used MRI research to guide her development of a treatment for depression with deep brain stimulation, a technique that involves surgery to implant a pacemaker-like device in the brain, is one of the many scientists who could use this sort of database to guide her research.

With it, she said, she can ask, how is this really critical node connected to other parts of the brain, information that will inform future research and surgery.

The database and brain map are a part of the Human Connectome Project, a roughly $40m five-year effort supported by the National Institutes of Health. It consists of two consortiums: a collaboration among Harvard, Massachusetts General Hospital and UCLA to improve MRI technology and the $30m project Barch is part of, involving Washington University, the University of Minnesota and the University of Oxford.

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The brain, in exquisite detail

Today, Illumina, the leading maker of DNA sequencers, announced a milestone in biotechnology: it is introducing a new machine that can sequence the genetic code of a human cell for $1,000.

The machine actually a combination of ten machines working together called the HiSeqX Ten will cost $10 million. Already, three have been bought by Macrogen, The Harvard-MIT Broad Institute in Cambridge, and the Garvan Institute of Medical Research in Australia. Illumina forecasts that it will sell five of the systems this year.

Eric Lander, one of the worlds leading geneticists and the director of the Broad, called the machines extremely exciting in Illuminas press release. Over the next few years, we have an opportunity to learn as much about the genetics of human disease as we have learned in the history of medicine, he said.

Its a milestone of huge psychological importance for the scientists who study human genetics and the industry of biotechnology companies creating new diagnostic tests and drugs using the technology. Initially, the number was put out there by researchers as kind of a thought experiment, or a mythic totem. Less than a decade ago, the cost of decoding a human genome was $250,000, but thanks in part to Illumina, the efficiency of the machines has risen at an exponential rate, outpacing the famous Moores Law that describes the improvement of the semiconductor chips used in supercomputers.

But actually hitting the $1,000 mark has proved elusive. Life Technologies, which was trying to give Illumina a run for its money, announced a year ago that it would launch a machine capable of cranking through DNA basepairs at this rate, but the machine still hasnt hit the market. Even if it had, there were reasons not to give it the title. For one thing, it was only counting the costs of the chemicals consumed in sequencing all that DNA, not the machine. (See: Not Quite The $1,000 Genome, But Close Enough)

But Jay Flatley, Illuminas Chief Executive, says that this time the calculations include the cost of the chemicals, of preparing the samples, and amortization for that extremely expensive machine. And in general, producing all that data is a huge step forward for biology. Meanwhile, many of Illuminas potential competitors, including companies like Life and Pacific Biosciences, have been left far behind.

They are brilliant, says Michael Pellini, the Chief Executive of Foundation Medicine, which uses Illuminas machines to analyze the genomes of cancer patients. Well ahead of the field. Nothing today has a dramatic impact on our business, but its good in general for the field. Someone still needs to adapt the technology to the field of oncology in a seamles way. Thats where we come in.

Other companies are racing to use the new technology, too. Earlier this week, Regeneron, a fast-growing biotechnology company, announced that it would be using the technology in research directed at discovering new drugs in collaboration with the Geisinger Health System in Pennsylvania.

Source: Forbes

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The $1,000 Genome Arrives -- For Real, This Time