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	<title>Knome</title>
	
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		<title>GATTACA: is there a gene for the human spirit?</title>
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		<pubDate>Fri, 11 May 2012 21:07:34 +0000</pubDate>
		<dc:creator>Jonas Lee</dc:creator>
				<category><![CDATA[General developments]]></category>
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		<description><![CDATA[Contributed by Elizabeth Ricker What better group to view the dystopic science fiction movie Gattaca than those attempting to discern and make real the better parts of its science?  In early spring, the Knome team crowded into our conference room &#8230; <a href="http://www.knome.com/2012/05/gattaca-is-there-a-gene-for-the-human-spirit/?isalt=0">more <span class="meta-nav">›</span></a>]]></description>
			<content:encoded><![CDATA[<p><a href="http://www.knome.com/wp-content/uploads/2012/05/Screen-Shot-2012-05-11-at-4.58.21-PM.png?9d7bd4"><img class="alignright size-medium wp-image-2183" title="Screen Shot 2012-05-11 at 4.58.21 PM" src="http://www.knome.com/wp-content/uploads/2012/05/Screen-Shot-2012-05-11-at-4.58.21-PM-350x498.png?9d7bd4" alt="Screen Shot 2012 05 11 at 4.58.21 PM 350x498 GATTACA: is there a gene for the human spirit?" width="350" height="498" /></a><em>Contributed by Elizabeth Ricker</em></p>
<p>What better group to view the dystopic science fiction movie <em>Gattaca</em> than those attempting to discern and make real the better parts of its science?  In early spring, the Knome team crowded into our conference room to watch this <a href="http://www.imdb.com/title/tt0119177/">1997 film</a>.  Nearly all of our staff assembled to eat pizza, watch the film, discuss the science and moral dimensions of the genomic technologies that we ourselves are bringing into the world.</p>
<p>Post-movie discussion ranged from what genetic traits are possible to select for to considering whether the pursuit of a genomic ideal (assuming such a thing exists) could be ethically pursued.  As a cutting-edge genome interpretation company with a commitment to the highest ethical standards, what is Knome’s educational responsibility?</p>
<p>It is often said that art mirrors life and life mirrors art—but with a lag. In the world of <em>Gattaca</em>, laws protect citizens from being discriminated against in employment and health insurance due to their genetics (a discrimination called “genoism” in the movie), but in practice, the law is easily circumvented. More than ten years after the film’s release, the 2008 Genetic Information Nondiscrimination Act (GINA) prohibits genetics based employment and health insurance discrimination. State level proposals such as CalGINA, as well as the VT, CT, and MA addendums take even stronger stances. At this point, it is still unclear how much life will mirror art. Will these well-intentioned laws also fail?</p>
<p>In <em>Gattaca</em>, Ethan Hawke’s character must create a fake identity because he is repeatedly cut off from opportunities due to his genetic profile. Hawke’s character acknowledges the grim reality of his limited prospects and deviously works around them. Through secrecy, enormous determination, persistence, and personal sacrifice, he pursues his professional dreams. Jude Law plays his counterpoint, a man genetically privileged but ultimately underachieving. Despite his ostensible genetic disadvantage, Ethan Hawke is ultimately the more successful of the two. Thus the tagline of the movie: <em>there is no gene for the human spirit.</em></p>
<p>Like many such conversations, the <em>Gattaca</em> discussion here at Knome raised as many questions as answers. For instance, there was debate about whether there could ever be genetic markers for the persistence, optimism, and resilience demonstrated by Ethan Hawke’s character—a ‘gene for the human spirit’. We are enthusiastic about the positive role that our products and services will play, but we must carefully demarcate areas of uncertainty as well. The answers are fascinating but complex.</p>
<p>Genomics heralds a new and exciting world. We must strive to make it an ethical and thoughtful one, too. With any great technology comes the potential for good or harm, but the same carefulness of thought that makes discovery itself possible can and should be utilized in navigating the ethical and logistical challenges of applying it. If there is a gene for the human spirit, we will be calling upon it to meet the challenge of the genomic era.</p>
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		<item>
		<title>Thoughts on genomes, health, and the new paper on risk prediction from twin studies</title>
		<link>http://feedproxy.google.com/~r/Knome/~3/iBiPyTyJWDg/</link>
		<comments>http://www.knome.com/2012/04/thoughts-on-genomes-health-and-the-new-paper-on-risk-prediction-from-twin-studies/#comments</comments>
		<pubDate>Thu, 19 Apr 2012 16:21:34 +0000</pubDate>
		<dc:creator>Jonas Lee</dc:creator>
				<category><![CDATA[General developments]]></category>
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		<guid isPermaLink="false">http://www.knome.com/2012/04/thoughts-on-genomes-health-and-the-new-paper-on-risk-prediction-from-twin-studies/</guid>
		<description><![CDATA[A controversial new paper from Nicholas Roberts, Bert Vogelstein, and colleagues starts with a simple and longstanding observation: so-called identical twins don’t always get the same diseases. Reviewing data from old twin studies, the authors try to use that observation &#8230; <a href="http://www.knome.com/2012/04/thoughts-on-genomes-health-and-the-new-paper-on-risk-prediction-from-twin-studies/">more <span class="meta-nav">›</span></a>]]></description>
			<content:encoded><![CDATA[<p>A <a href=" http://www.genomesunzipped.org/2012/04/identical-twins-usually-do-not-die-from-the-same-thing.php " target="_blank">controversial </a>new <a href="”" target="”_blank”">paper</a> from Nicholas Roberts, Bert Vogelstein, and colleagues starts with a simple and longstanding observation: so-called identical twins don’t always get the same diseases.</p>
<p>Reviewing data from old twin studies, the authors try to use that observation to help answer an important question: how genetically <a href="http://en.wikipedia.org/wiki/Heritability" target="_blank"><em>heritable</em></a> are various diseases, overall? And, beyond that, how does genetic risk vary among people? That is, for a given disease, do genomes contribute a portion of risk that varies widely, but smoothly, from person to person – or a portion of risk that varies more sharply from person to person…or some mix in between?</p>
<p>Below we offer some thoughts on the paper’s strengths, weaknesses, and the open questions that science is tackling in the important field of genomic medicine.</p>
<p><span id="more-2158"></span></p>
<p><strong>Gee, these findings look familiar&#8230;</strong><br />
Geneticists have long looked to twins to measure genetic heritability, and the new paper &#8212; which presents no new data, but instead re-analyzes older studies of twins &#8212; follows in that old tradition. Though the paper has generated lots of discussion (thanks largely to active publicity efforts by the authors – for better or worse, part of doing science today!), the main conclusion actually boils down to the original starting observation: <em>even <a href="http://en.wikipedia.org/wiki/Monozygotic_twins#Monozygotic_.28.22identical.22.29_twins" target="_blank">twins from the same egg</a>, who are as genetically similar as people can be, don’t always get sick the same way.</em></p>
<p>Where Vogelstein and colleagues help refine that old question of twins’ heritability is in trying to <em>sort </em>particular diseases by estimating how well, on average, one might forecast those diseases from genomes alone.</p>
<p>To do so, they propose a simplistic model of the genetic basis of disease risk. Now, note that simplistic models are common in science &#8212; and, in statistical genetics, in particular, we still have a lot to learn about the real-world profiles of genetic variants’</p>
<p>• <a href="http://en.wikipedia.org/wiki/Allele_frequency" target="_blank">allele frequencies </a>(<em>How common is a given variant in people around the world?</em>)</p>
<p>• effects on <a href="http://en.wikipedia.org/wiki/Phenotype" target="_blank">phenotype</a> (<em>How much does having this variant affect one&#8217;s odds of having or getting disease X, overall?</em>)</p>
<p>• <a href="http://en.wikipedia.org/wiki/Epistasis" target="_blank">epistasis</a> (<em>How do the effects of this variant depend on the presence of other variants in your genome?</em>)</p>
<p>and</p>
<p>• <a href="http://en.wikipedia.org/wiki/Pleiotropy" target="_blank">pleiotropy</a> (<em>What other phenotypes does this variant help govern, and how do those effects interact?</em>).</p>
<p>Given those open challenges, we won’t dwell here on how well assumptions in the author&#8217;s model likely fit biological reality, other than to note that the authors do indeed presume some simple answers to those questions, along with some arbitrarily chosen thresholds for defining what it means for two people to informatively differ in disease risk.</p>
<p>Having set their simple model, they then tuned it to previous twin data for each of 24 diseases, to estimate how robust and variable (from person to person) resulting estimates of individual genetic risk might be.</p>
<p>Running the numbers, they guess that, for the average person, the spectrum of such risk estimates based solely on the genome may be just modestly helpful overall &#8212; a guess that, again, accords the basic observation that twins don&#8217;t always get the same diseases. The authors go on to assert that genome data may best help clarify our personal risks better for some particular diseases –- they call out autoimmune diseases like <a href="http://www.mayoclinic.com/health/type-1-diabetes/DS00329" target="_blank">type-I diabetes</a> and forms of <a href="http://thyroid.about.com/cs/hypothyroidism/a/hashivshypo.htm" target="_blank">thyroid disease</a>, as well as the nerve disease <a href="http://www.mayoclinic.com/health/alzheimers-disease/DS00161" target="_blank">Alzheimer&#8217;s</a> &#8212; than for others.</p>
<p>And here arises a key caveat: many of the diseases they look at are <em>cancers</em>, which have <em>long been</em> known to be less genetically heritable than some other diseases. And, in this sense, the paper is really recasting old knowledge as if it were a brand new grain of salt for the coming era of genomically personalized healthcare.</p>
<p><strong>Genomic medicine: the integrative view.</strong><br />
Here at Knome, we analyze human whole genomes every day, in order to better understand health. Thus we clearly have a stake in public discussion of the prospective clinical utility of whole genome sequencing and interpretation. But, in that role, we&#8217;ve always stressed that one key duty of our work is to help people understand what our genomes can –- <em>and can’t</em> &#8212; tell us. And, looking ahead to the prospect of genomically personalized healthcare, we have always understood that genomes will crucially <em>complement</em>, not replace, more conventional cornerstones of clinical care.</p>
<p>That is, face-to-face doctor visits, family history, lab tests, and so forth will remain essential pieces of the healthcare puzzle, soon to be joined by genome sequences. But no such piece, alone, stands to tell us everything we need to know about disease risk: lab tests often happen too late, for example; and family history is limited in utility for precisely the same reasons that this new paper highlights.</p>
<p>As a rough analog, note that weather forecasters use satellite photos every day, for remarkably detailed insight into what’s happening in the atmosphere; nonetheless, they wouldn’t try to predict today&#8217;s high temperature in your town solely from such photos. Rather, they merge the modern, comprehensive data from orbiting cameras with data from older earthbound instruments to predict the weather (and, of course, they still get it wrong sometimes!…).</p>
<p>Likewise, the modern, comprehensive data of whole genome sequences will likely come to play a key role in healthcare for many of us – but only together with other key sources of medical insight. Sensible thinkers in our field know that it’s critical not to hype genomes – or any other data source, for that matter – as a silver bullet that will solve every medical mystery. To do so would a) do a disservice to the public, and b) by raising unreasonable expectations, risk a backlash from the societal funders of healthcare, as well as genomic research itself.</p>
<p>But here it&#8217;s worth noting that <a href="http://www.pbs.org/wgbh/nova/body/cracking-your-genetic-code.html" target="_blank">discoveries from individual genomes</a> are already helping many families! And in fact, they’ve already done so for many decades, ever since the first readily screened <a href="http://en.wikipedia.org/wiki/Penetrance" target="_blank">penetrant</a> genetic disease variant, for <a href="http://en.wikipedia.org/wiki/Sickle_cell_anemia" target="_blank">sickle cell anemia</a>, was <a href="http://www.ncbi.nlm.nih.gov/pubmed/13369537" target="_blank">characterized</a> in the late 1950s. Lookingn ahead, as we survey more people’s whole genomes, along with their diseases and other traits, our DNA will indeed tell us more and more about what makes each of us unique, and about the distinctive health risks we face.</p>
<p><strong>Real optimism</strong><br />
Regardless of how simplistic they are in modeling disease risk, papers like the Vogelstein group’s are reminders to temper any undue expectations that whole genome interpretation (like any other single source of health information) will offer slam-dunk insight into longterm risk for all common diseases for a typical fairly health person.</p>
<p>But, promisingly, their paper suggests that whole genome interpretation may nonetheless offer most people &#8212; the authors estimate more than nine in ten of us – a valid and significant flag of distinctive (high or low) genetic risk for at least one such major disease. Together with other information in our healthcare profiles, such predictions would substantively help us and our physicians turn our attention to key, distinctive facets of our health outlook, making better preventive and treatment decisions along the way.</p>
<p>Moreover, as noted, the authors actually call out particular diseases as likely to most often turn out to be informatively predictable. Admirably, in doing so, they are offering specific predictions that will be testable as science progresses. In the long run, we will indeed learn whether readily genetically predictable common diseases tend to fit particular profiles. Given that cancers, as a class, appear not to fit that bill, it&#8217;s certainly plausible that some other classes of disease will tend to fit better.</p>
<p>And, crucially, the paper acknowledges the clear point that whole genome sequencing is already helping people spot strong risks for much rarer serious diseases that may lurk in our genomes. This will likely be especially useful in planning families, where we’d like to know what few rare but potentially functionally important variants, if any, we may share with a spouse (and that might be harmful if, by chance, inherited together in a child).</p>
<p><strong>Genomic medicine <em>presumes</em> it’s not all in your genes.</strong><br />
It’s important to understand whether the new paper debunks some notion that our fates are all written in our genes. But spinning the &#8216;<a href="http://www.salon.com/2012/04/02/gene_mapping_for_everyone_study_says_not_so_fast/" target="_blank">no crystal ball</a>&#8216; finding as big news in itself is a bit of a straw man: we&#8217;ve long known that genetic risk is not immutable –- and the whole field of genomic medicine is actually <em>founded</em> on that fact! That is, in trying to understand genetic risk, we hope learn how to <em>reduce</em> it, by changing the environment of our habits –- through what we eat, what drugs we take, and how we otherwise spend our time. Our genomes should eventually help many of us refine those choices in key ways.</p>
<p><strong>Whole genome sequencing and cancers</strong><br />
The paper rehashes the long-known point that cancer risk tends to show fairly little genetic heritability (other than for sex-specific cancers tracing to the sex chromosomes themselves). Yet some of the first clear examples of how useful genome sequencing can be are nonetheless in familial cancers, such as cases of breast and ovarian cancers tracing to inherited variants in the <a href="http://www.omim.org/entry/113705" target="_blank"><em>BRCA1</em></a> and <em><a href="http://www.omim.org/entry/600185?search=brca2&amp;highlight=brca2" target="_blank">BRCA2</a></em> genes.</p>
<p>Moreover, sequencing the genomes of <em>tumors</em> (which the paper doesn’t address) is already revolutionizing how cancer is treated, by finding key changes to the genomes of particular cells in the body that let them grow out of control. Such sequencing is reshaping how oncologists think of cancers – from a simplistic tissue-specific view, to one that highlights recurrent genetic changes shared by tumors from different tissues, which may represent vulnerable targets for particular drugs or other treatments.</p>
<p><strong>Minor concerns: Twins R Us?</strong><br />
The Vogelstein group’s reanalysis of data from old twin studies risks some small concerns that always dog such studies. As the authors acknowledge, their paper presumes that European monozygotic twins validly represent everyone, <em>i.e.,</em> that their assertions</p>
<p>• will generalize to other ethnicities</p>
<p>• aren’t confounded by ascertainment bias (‘<em>Doc, my twin has disease X. Do I?</em>’…). Note that such bias may which might tend to <em>overestimate</em> heritability (if twins tend to be more thoroughly diagnosed, or more often misdiagnosed thanks to another person’s diagnosis, than do other people), or <em>underestimate</em> it (if one twin, on seeing the other get sick, takes better and earlier preventive measures than (s)he would otherwise have taken).</p>
<p>• aren’t distorted by monozygotic twins’ distinctive health profiles. Twins are unusual, of course, and might differ from other people in several ways: they undergo unusually stringent competition for food in the womb (and as a result are often born underweight); their mothers may have distinctive age profiles, or even genotypes that predispose to twinning; their development may reflect subtle underlying quirks of early embryonic cell division or other physiology; and they often grow up in very similar environments – often including lifelong social support from a very similar sibling (which could matter in understanding, say, heart disease, where life stresses matter a log).</p>
<p>The last few concerns are less damning than those above them (after all, as noted, the basic findings of the paper boil down to the fact that twins don&#8217;t get the same diseases). But, like all the foregoing, they&#8217;re worth keeping in mind as research into the causes of disease &#8212; genetic and otherwise &#8212; continues on all our behalf.</p>
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		<title>Knome selected as a genome interpretation partner for Illumina Genome Network</title>
		<link>http://feedproxy.google.com/~r/Knome/~3/Go3L8hP1qNs/</link>
		<comments>http://www.knome.com/2012/04/knome-selected-as-a-genome-interpretation-partner-for-illumina-genome-network/#comments</comments>
		<pubDate>Tue, 03 Apr 2012 13:02:06 +0000</pubDate>
		<dc:creator>Jonas Lee</dc:creator>
				<category><![CDATA[General developments]]></category>
		<category><![CDATA[Press Releases]]></category>
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		<guid isPermaLink="false">http://www.knome.com/2012/04/knome-selected-as-a-genome-interpretation-partner-for-illumina-genome-network/</guid>
		<description><![CDATA[Firms partner to offer Illumina’s high-quality genome sequencing services in combination with Knome’s advanced genome interpretation solutions CAMBRIDGE, MA – April 3, 2012 – Knome Inc., the human genome interpretation company, announced today that it has been selected by Illumina, &#8230; <a href="http://www.knome.com/2012/04/knome-selected-as-a-genome-interpretation-partner-for-illumina-genome-network/">more <span class="meta-nav">›</span></a>]]></description>
			<content:encoded><![CDATA[<h2>Firms partner to offer Illumina’s high-quality genome sequencing services in combination with Knome’s advanced genome interpretation solutions<br />
</h2>
<p><strong>CAMBRIDGE, MA – April 3, 2012</strong> – Knome Inc., the human genome interpretation company, announced today that it has been selected by Illumina, Inc., (NASDAQ: ILMN) as a partner in the Illumina Genome Network (IGN). As part of the agreement, IGN customers will have access to preferential pricing for Knome’s genome interpretation tools and services. The agreement also calls for the companies to further integrate their data pipelines in order to provide end users with accelerated turnaround times. </p>
<p>“Knome’s software tools and services, knomeBASE and knomeDISCOVERY, are well positioned to help address the needs of Illumina’s customers,” said Scott Kahn, Vice President and Chief Information Officer at Illumina. “IGN will provide fully processed and summarized genomic information from its whole genome and cancer analysis services directly to Knome, which will use the data to deliver subsequent interpretations.  These reports include comprehensive annotation and interactive analyses that are very attractive to users with little or no in-house bioinformatics expertise, and to those who want to perform multi-sample analysis.” </p>
<p> “We have often worked together on a case-by-case basis to provide researchers with a complete sequencing and interpretation solution—the most recent example being the landmark 1,000 genomes asthma study by Johns Hopkins University School of Medicine,” said Ari Kiirikki, Knome’s Vice President of Business Development. “Now that we have entered into a formal partnership, we look forward to working together to proactively identify researchers, drug developers, and clinics with interpretation bottlenecks in order to deliver a seamless end-to-end solution.”</p>
<p><BR></p>
<p><strong>About Knome</strong><br />
Knome is a life sciences company that specializes in the interpretation of human genomes. Knome provides tools and solutions that help researchers, drug developers, and clinicians determine the genetic basis of human disease and drug response. In 2008, Knome had the distinction of being the first company to interpret a human whole genome for a commercial client. Since then, Knome has worked on over 100 interpretation projects in more than two dozen countries.</p>
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		<title>Knome expands executive management team, positions company for growth</title>
		<link>http://feedproxy.google.com/~r/Knome/~3/NDjFjibW7bs/</link>
		<comments>http://www.knome.com/2012/04/knome-expands-executive-management-team-positions-company-for-growth/#comments</comments>
		<pubDate>Tue, 03 Apr 2012 13:01:10 +0000</pubDate>
		<dc:creator>Jonas Lee</dc:creator>
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		<description><![CDATA[Appoints Charles Abdalian as CFO, Adam Rosenberg as Head of Corporate Development, and Jay Therrien as Head of Global Sales CAMBRIDGE, MA – April 3, 2012 – Knome Inc., the human genome interpretation company, today announced that it has continued &#8230; <a href="http://www.knome.com/2012/04/knome-expands-executive-management-team-positions-company-for-growth/">more <span class="meta-nav">›</span></a>]]></description>
			<content:encoded><![CDATA[<h2>Appoints Charles Abdalian as CFO, Adam Rosenberg as Head of Corporate Development, and Jay Therrien as Head of Global Sales</h2>
<p><strong>CAMBRIDGE, MA – April 3, 2012</strong> – Knome Inc., the human genome interpretation company, today announced that it has continued to strengthen its executive management team, adding Charles Abdalian as Chief Financial Officer, Adam Rosenberg as Senior Vice President and Head of Corporate Development, and Jay Therrien, PhD. as Senior Vice President and Head of Global Sales. </p>
<p>“We are very pleased to bring on several outstanding, seasoned life sciences executives as we prepare Knome for rapid growth,” said Martin Tolar, MD, PhD, Chief Executive Officer of Knome. “These exceptional individuals will help us further extend our leadership in the interpretation of whole genomes as we capitalize on expanding commercial opportunities.”</p>
<p><strong>Chuck Abdalian </strong><br />
As Chief Financial Officer, Mr. Abdalian is responsible for all financial aspects of the company. He is a seasoned life sciences executive with more than 30 years of experience in both large public and early-stage private companies. Most recently, he served as Senior Vice President of Finance and Chief Financial Officer of Molecular Insight Pharmaceuticals. Before Molecular Insight, Mr. Abdalian served as Senior Vice President of Finance and Chief Financial Officer at Coley Pharmaceutical Group, Inc., where he raised $135 million in equity, directed the company’s IPO, and ultimately led its negotiations to be acquired by Pfizer in 2008. Prior to joining Coley, Mr. Abdalian served as CEO of Pelias Technologies, Inc., a venture-backed early-stage drug development company. and CFO of Emisphere Technologies, Inc., a development-stage drug delivery firm. Mr. Abdalian holds a BS from Norwich University and an MBA from The Wharton School.</p>
<p>“I am delighted to join Knome as we accelerate the expansion of the company’s business. With leading technology and world-class genome interpretation capabilities, Knome is clearly well positioned to grow rapidly to meet the vast opportunities that are emerging in the genomics marketplace,” said Mr. Abdalian.</p>
<p><strong>Adam Rosenberg</strong><br />
As Senior Vice President, Head of Corporate Development, Mr. Rosenberg is responsible for all transactional aspects of the company, in addition to developing Knome’s intellectual property strategy and playing a leadership role in establishing Knome’s partnerships in the pharmaceutical/biotech industry.  He is an experienced life sciences executive who has played a key role in founding and building a number of successful companies. Over the last three years, he has been advising emerging companies as a director and consultant and also co-founded Clean Membranes, Inc., a start-up developing materials technology licensed from the Massachusetts Institute of Technology. From 2005 through 2009, Mr. Rosenberg was CEO of Link Medicine Corporation, a company focused on discovering and developing disease-modifying neurodegenerative therapies. Under his leadership, Link grew to a clinical-stage company, secured more than $50 million in equity financing, in-licensed a compound initially developed by a major pharmaceutical company, and built a scientific team to accelerate a novel neuroscience R&#038;D platform.</p>
<p>Mr. Rosenberg is also an experienced transactional lawyer. He helped launch and build Faber Daeufer &#038; Rosenberg PC, a successful boutique business law firm focused on representing leading investors, companies, and research institutes in the life sciences. Previously, he was a member of the corporate finance and private equity practice groups at prominent law firms in Boston, Seattle, and New York.  He also helped launch Ovation Capital Partners, an early-stage technology venture capital fund. Mr. Rosenberg holds a BA from Whittier College and a JD from University of Virginia School of Law.<br />
“Knome is well situated to play a fundamental role in leading the impending revolution in personalized medicine and genomics, and I’m excited to join the team,” said Mr. Rosenberg.</p>
<p><strong>Jay Therrien, PhD</strong><br />
As Senior Vice President of Global Sales, Dr. Therrien is responsible for Knome’s global sales effort. He is an accomplished sales executive with extensive experience in the commercialization and sale of genomic products and services. He has built high performing sales teams and sales channels in the Americas, Asia Pacific, and Europe across a range of customer segments, including academic, government, clinical, and pharmaceutical. Most recently, Dr. Therrien was Vice President, Commercial Operations, Sequencing at Life Technologies, directing sales and support activities for capillary electrophoresis, SOLiD, and Ion Torrent sequencing instruments. From 2004 to 2009, Dr. Therrien worked for Illumina, Inc., in various sales leadership roles, including Director of Sales for Asia Pacific and Japan. Earlier in his career, Dr. Therrien held technical and senior scientist roles at companies with products and services in sequencing and microarray applications. He holds a BS from University of Illinois at Urbana-Champaign and a PhD from the University of Kansas.</p>
<p>“This is an amazing time to join Knome. As the cost of sequencing rapidly declines, the next big commercial opportunity will be helping researchers and clinics manage and interpret the abundance of data being generated. I look forward to expanding the sales of Knome’s interpretation products to new markets and new geographies,” said Dr. Therrien.<br />
<BR></p>
<p><strong>About Knome</strong><br />
Knome is a life sciences company that specializes in the interpretation of human genomes. Knome provides tools and solutions that help researchers, drug developers, and clinicians determine the genetic basis of human disease and drug response. In 2008, Knome had the distinction of being the first company to interpret a human whole genome for a commercial client. Since then, Knome has worked on over 100 interpretation projects in more than two dozen countries.</p>
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		<title>Knome appoints Hugh Y. Rienhoff, Jr., MD to Scientific Advisory Board</title>
		<link>http://feedproxy.google.com/~r/Knome/~3/F0mjolDjPLc/</link>
		<comments>http://www.knome.com/2012/04/knome-appoints-hugh-y-rienhoff-jr-md-to-scientific-advisory-board/#comments</comments>
		<pubDate>Tue, 03 Apr 2012 13:00:55 +0000</pubDate>
		<dc:creator>Jonas Lee</dc:creator>
				<category><![CDATA[General developments]]></category>
		<category><![CDATA[Press Releases]]></category>
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		<guid isPermaLink="false">http://www.knome.com/2012/04/knome-appoints-hugh-y-rienhoff-jr-md-to-scientific-advisory-board/</guid>
		<description><![CDATA[Dr. Rienhoff brings deep industry and technical expertise as Knome continues to expand CAMBRIDGE, MA – April 3, 2012 – Knome, Inc., the human genome interpretation company, today announced that it has continued to expand its scientific advisory board to &#8230; <a href="http://www.knome.com/2012/04/knome-appoints-hugh-y-rienhoff-jr-md-to-scientific-advisory-board/">more <span class="meta-nav">›</span></a>]]></description>
			<content:encoded><![CDATA[<h2>Dr. Rienhoff brings deep industry and technical expertise as Knome continues to expand</h2>
<p><strong>CAMBRIDGE, MA – April 3, 2012</strong> – Knome, Inc., the human genome interpretation company, today announced that it has continued to expand its scientific advisory board to include respected life sciences expert and industry pioneer, Hugh Y. Rienhoff, Jr., MD.</p>
<p>“We are very pleased to appoint Dr. Rienhoff to our scientific advisory board,” said Martin Tolar, MD, PhD, Chief Executive Officer of Knome. “Dr. Rienhoff brings a unique, diverse, and deeply entrepreneurial perspective that will further strengthen our scientific advisory board as we pursue new drug development and clinical applications of Knome’s technology. We look forward to benefiting from the depth and breadth of his insights.”</p>
<p>Dr. Rienhoff has more than 20 years of experience as a technology visionary, entrepreneur, and venture investor in life sciences. He is currently a Managing Director of Life Science Venture Partners and serves as an Adjunct Scientist at the Children&#8217;s Hospital Oakland Research Institute. In the field of genomics, Dr. Rienhoff is known for the founding of the nonprofit organization MyDaughtersDNA.org, a community focused on aiding those with challenging genetic conditions. He presently serves as Chief Executive Officer at FerroKin BioSciences, a company he founded as part of his ongoing interest in the treatment of rare disorders. Previously, Dr. Rienhoff served as Chief Executive Officer and Chairman of the Board of DNA Sciences, Inc., a privately held biotechnology company he founded in 1998 (formerly Kiva Genetics, Inc.). He was also a founding director of Healtheon Corporation, a health-focused Internet portal now widely known as WebMD Health.</p>
<p>“Knome brings together the team, technology, and application focus needed to bring genomics into the practice of medicine—and ultimately the lives of patients. This is a pivotal time for Knome: rendering genomic data manageable and actionable to a broad array of users will drive Knome’s ultimate success in addressing the dynamic needs of key markets. I am excited to join the Knome advisory team and look forward to helping Knome maintain its leadership position in the application of human genomic information,” said Dr. Rienhoff.</p>
<p>Dr. Rienhoff previously has served as a General Partner of Vanguard Ventures and as a Partner of New Enterprise Associates. Dr. Rienhoff was a member of the faculty in the Department of Molecular Biology and Genetics at The Johns Hopkins University School of Medicine. He trained in mathematics, medicine, and genetics at Harvard University, Johns Hopkins University, and the Fred Hutchinson Cancer Research Center in Seattle, Washington, and received an MD from The Johns Hopkins University School of Medicine.</p>
<p>Knome’s scientific advisory board is chaired by George Church, PhD, Professor of Genetics at Harvard Medical School, Director of the Harvard-Lipper Center for Computational Genetics, and cofounder of Knome. Other members of the board include Lincoln Stein, MD, PhD, Professor at Cold Spring Harbor Laboratory and Platform Leader of Informatics and Biocomputing at the Ontario Institute for Cancer Research; David Goldstein, PhD, Professor of Molecular Genetics &amp; Microbiology, Professor of Biology, and Director of the Center for Human Genome Variation at Duke University; Yaniv Erlich, PhD, the Andria and Paul Heafy Family Fellow and Principal Investigator at the Whitehead Institute for Biomedical Research at the Massachusetts Institute of Technology; and Anthony Sinskey, ScD, Professor of Microbiology and Health Sciences and Technology at the Massachusetts Institute of Technology.</p>
<p><strong>About Knome</strong><br />
Knome is a life sciences company that specializes in the interpretation of human genomes. Knome provides tools and solutions that help researchers, drug developers, and clinicians determine the genetic basis of human disease and drug response. In 2008, Knome had the distinction of being the first company to interpret a human whole genome for a commercial client. Since then, Knome has worked on over 100 interpretation projects in more than two dozen countries.</p>
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		<title>Catch Knome on NOVA</title>
		<link>http://feedproxy.google.com/~r/Knome/~3/_kE5ymxW4m0/</link>
		<comments>http://www.knome.com/2012/03/catch-knome-on-nova/#comments</comments>
		<pubDate>Mon, 26 Mar 2012 16:35:06 +0000</pubDate>
		<dc:creator>Jonas Lee</dc:creator>
				<category><![CDATA[General developments]]></category>
		<category><![CDATA[In The News]]></category>
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		<guid isPermaLink="false">http://www.knome.com/2012/03/catch-knome-on-nova/</guid>
		<description><![CDATA[On Wednesday, March 28th, Knome appeared on a special episode of NOVA, Cracking Your Genetic Code. In the show, we help describe how the interpretation of human genomes is helping to solve medical mysteries and revolutionize personal healthcare. “Insights from &#8230; <a href="http://www.knome.com/2012/03/catch-knome-on-nova/">more <span class="meta-nav">›</span></a>]]></description>
			<content:encoded><![CDATA[<p><a href="http://www.knome.com/wp-content/uploads/2012/03/Untitled2.png?9d7bd4"><img class=" wp-image-2032 alignleft" title="Untitled" src="http://www.knome.com/wp-content/uploads/2012/03/Untitled2.png?9d7bd4" alt="Untitled2 Catch Knome on NOVA" width="660" height="122" /></a>On Wednesday, March 28<sup>th</sup>, Knome appeared on a special episode of NOVA, <em>Cracking Your Genetic Code</em>.</p>
<p>In the show, we help describe how the interpretation of human genomes is helping to solve medical mysteries and revolutionize personal healthcare.</p>
<p>“Insights from our own DNA will soon help each of us understand and manage the distinctive health risks we face.  Our genomes will thus take their place alongside family history, face-to-face visits, and lab tests, as cornerstones of clinical care.”  Dr. Pearson explains, “NOVA brings us a thoughtful glimpse of the challenges and promise of this coming era of genomically personalized medicine.”</p>
<p>The episode is available <a href="http://www.pbs.org/wgbh/nova/body/cracking-your-genetic-code.html" title="NOVA show" target="_blank">online</a>. Check it out if you have the chance&#8212;it&#8217;s very well done.</p>
<p><strong><em><br />
</em></strong></p>
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		<title>Did you know February 29th is Rare Disease Day?</title>
		<link>http://feedproxy.google.com/~r/Knome/~3/h3XcQH1onpo/</link>
		<comments>http://www.knome.com/2012/02/did-you-know-february-29th-is-rare-disease-day/#comments</comments>
		<pubDate>Wed, 29 Feb 2012 17:41:19 +0000</pubDate>
		<dc:creator>Jonas Lee</dc:creator>
				<category><![CDATA[General developments]]></category>
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		<guid isPermaLink="false">http://www.knome.com/2012/02/did-you-know-february-29th-is-rare-disease-day/</guid>
		<description><![CDATA[This year marks the fifth annual Rare Disease Day. According to the National Organization for Rare Disorders (NORD), rare diseases affect 30 million Americans. NORD is partnering with the NIH and major health organizations around the world to raise international &#8230; <a href="http://www.knome.com/2012/02/did-you-know-february-29th-is-rare-disease-day/">more <span class="meta-nav">›</span></a>]]></description>
			<content:encoded><![CDATA[<p><strong><br />
</strong><strong><a href="http://www.knome.com/wp-content/uploads/2012/02/Screen-Shot-2012-02-29-at-12.36.11-PM.png?9d7bd4"><img class="alignright  wp-image-2006" title="Screen Shot 2012-02-29 at 12.36.11 PM" src="http://www.knome.com/wp-content/uploads/2012/02/Screen-Shot-2012-02-29-at-12.36.11-PM-350x331.png?9d7bd4" alt="Screen Shot 2012 02 29 at 12.36.11 PM 350x331 Did you know February 29th is Rare Disease Day?" width="245" height="232" /></a></strong></p>
<p><strong></strong>This year marks the fifth annual Rare Disease Day. According to the National Organization for Rare Disorders (NORD), rare diseases affect 30 million Americans. NORD is partnering with the NIH and major health organizations around the world to raise international awareness for this health challenge.</p>
<p>Rare Disease Day brings to light the importance of genetic research and the tools Knome provides to help develop diagnostics and treatments to better the lives of those affected by rare diseases and disorders.</p>
<p>February 29<sup>th</sup> was chosen based on the rarity of the date, Rare Disease Day is more commonly observed on February 28<sup>th</sup>!</p>
<p>Find out how you can get involved: <a href="http://rarediseaseday.us/">http://rarediseaseday.us/</a></p>
<p><strong><br />
</strong></p>
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		<title>Knome’s New CEO Signals New Directions in Genome Interpretation</title>
		<link>http://feedproxy.google.com/~r/Knome/~3/7jottfwVh6A/</link>
		<comments>http://www.knome.com/2012/01/knome%e2%80%99s-new-ceo-signals-new-directions-in-genome-interpretation/#comments</comments>
		<pubDate>Wed, 11 Jan 2012 18:42:30 +0000</pubDate>
		<dc:creator>Jonas Lee</dc:creator>
				<category><![CDATA[General developments]]></category>
		<category><![CDATA[In The News]]></category>
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		<guid isPermaLink="false">http://www.knome.com/?p=1977</guid>
		<description><![CDATA[Bio IT World&#8217;s Kevin Davies covers Knome&#8217;s announcement of its new CEO and discussion of 2012 direction. Full article.]]></description>
			<content:encoded><![CDATA[<p>Bio IT World&#8217;s Kevin Davies covers Knome&#8217;s announcement of its new CEO and discussion of 2012 direction. <a href="http://www.bio-itworld.com/news/01/09/12/Knome-new-CEO-signals-new-directions-genome-interpretation.html" target="_blank">Full article. </a></p>
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		<title>Knome Names New CEO, Cuts Deal With Johns Hopkins to Analyze 1,000 Genomes</title>
		<link>http://feedproxy.google.com/~r/Knome/~3/fRwbj2Te7Lk/</link>
		<comments>http://www.knome.com/2012/01/knome-names-new-ceo-cuts-deal-with-johns-hopkins-to-analyze-1000-genomes/#comments</comments>
		<pubDate>Wed, 11 Jan 2012 18:33:36 +0000</pubDate>
		<dc:creator>Jonas Lee</dc:creator>
				<category><![CDATA[General developments]]></category>
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		<guid isPermaLink="false">http://www.knome.com/?p=1970</guid>
		<description><![CDATA[Luke Timmerman of Xconomy covers Knome&#8217;s announcement of a new CEO and signing of large deal with Johns Hopkins. Full article]]></description>
			<content:encoded><![CDATA[<p>Luke Timmerman of Xconomy covers Knome&#8217;s announcement of a new CEO and signing of large deal with Johns Hopkins. <a href="http://www.xconomy.com/boston/2012/01/09/knome-names-new-ceo-cuts-deal-with-johns-hopkins-to-analyze-1000-genomes/" target="_blank">Full article</a></p>
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		<title>Knome Appoints Martin Tolar as Chief Executive Officer</title>
		<link>http://feedproxy.google.com/~r/Knome/~3/G5-hdjpyQMM/</link>
		<comments>http://www.knome.com/2012/01/knome-appoints-martin-tolar-as-chief-executive-officer/#comments</comments>
		<pubDate>Mon, 09 Jan 2012 05:09:59 +0000</pubDate>
		<dc:creator>Jonas Lee</dc:creator>
				<category><![CDATA[General developments]]></category>
		<category><![CDATA[Press Releases]]></category>
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		<guid isPermaLink="false">http://www.knome.com/2012/01/knome-appoints-martin-tolar-as-chief-executive-officer/</guid>
		<description><![CDATA[Expands management team as company pursues new growth opportunities CAMBRIDGE, MA – January 9, 2012 – Knome, Inc., the human genome interpretation company, today announced that it has appointed Martin Tolar, MD, PhD, as the company’s Chief Executive Officer. In &#8230; <a href="http://www.knome.com/2012/01/knome-appoints-martin-tolar-as-chief-executive-officer/">more <span class="meta-nav">›</span></a>]]></description>
			<content:encoded><![CDATA[<h2>Expands management team as company pursues new growth opportunities</h2>
<p><strong>CAMBRIDGE, MA – January 9, 2012</strong> – Knome, Inc., the human genome interpretation company, today announced that it has appointed Martin Tolar, MD, PhD, as the company’s Chief Executive Officer. In addition, Knome has expanded the management team as the company pursues new growth opportunities to interpret and apply genomic information across the healthcare community—including academic researchers, drug companies, physicians, and consumers.<span id="more-1854"></span></p>
<p>“We are very pleased to appoint an outstanding, seasoned life sciences executive to lead Knome as we seek to partner with pharmaceutical and biotechnology companies and expand our products and services into the clinic and beyond,” said Sundar Subramaniam, Chairman of the Board of Directors of Knome. “Martin has the ideal skills and experience we need to accelerate our growth and extend our leadership in the interpretation and application of genomic data.”</p>
<p>Dr. Tolar has served in several senior positions in pharmaceutical and biotechnology companies. Before joining Knome, he was Chief Executive Officer of Normoxys, Inc., where he established the foundation for the business—including building a professional management team, securing venture financings, and successfully advancing the company’s novel cancer therapeutics from a research project into clinical development. Prior to Normoxys, he was Chief Scientific Officer and then Chief Business Officer at CoMentis, Inc., where he led the company’s scientific and business growth and negotiated a landmark collaboration agreement with Astellas Pharma. Prior to CoMentis, Dr. Tolar held a variety of leadership positions at Pfizer in the Clinical Development, Strategic Partnerships and Business Development divisions. At Pfizer, he directed programs through all stages of clinical development and NDA submissions, and was instrumental in a wide range of business development transactions, including the record-breaking acquisition of Rinat Neurosciences.</p>
<p>Prior to entering the private sector, Dr. Tolar served as an Assistant Professor in the Department of Neurology at Yale University School of Medicine. He trained in Neurology at the Boston Medical Center, where he served as a Teaching Fellow in Neurology at the Boston University School of Medicine and as a Research Fellow at the Massachusetts General Hospital. Dr. Tolar received a PhD in Neuroscience and has published a number of scientific publications in the area of Neuroscience and Alzheimer’s disease.</p>
<p>“I am delighted to join Knome. The company has superior technology and world-class genome interpretation capabilities that I believe will make a major impact on the way we diagnose and treat diseases, develop drugs, and make lifestyle decisions. We are on the cusp of the genomic and personalized medicine revolution—right when the cost of sequencing has reached a point where the application of genetic information is feasible across a host of opportunities. I expect that Knome will be a leader in this transformation as we broaden our business from academic research into expanded applications for drug development at pharmaceutical and biotechnology companies; the treatment of individual patients at hospitals and clinics; and a wide range of consumer applications,” said Martin Tolar, Chief Executive Officer of Knome.</p>
<p>In addition to Martin Tolar’s appointment as CEO, new executive positions were announced by Knome:</p>
<p>• Jorge Conde, the company’s founding CEO, will become Chief Strategy Officer and continue to serve on the board of directors for Knome. In his new role, he will lead the development of Knome’s genome interpretation software and services. Mr. Conde has spent his professional career in the biotechnology industry. Prior to Knome, he worked in strategic marketing and operations at MedImmune, Inc., in business development at Helicos Biosciences Corporation, and in the life sciences group at Flagship Ventures. Earlier in his career, Mr. Conde was an investment banker at Morgan Stanley &amp; Co., specializing in the biotechnology and genomics industries. He holds an MBA from Harvard Business School, an MS from the Harvard-MIT Division of Health Sciences and Technology (HST) and a Bachelor’s degree in Biology from The Johns Hopkins University.</p>
<p>• Jonas Lee, a founding member of Knome’s board of directors, will become Chief Marketing Officer and Head of Consumer Genomics. Prior to Knome, Mr. Lee founded and managed several finance, internet, and high technology ventures that pioneered new markets and technologies, including Redbrick Partners, Poindexter Systems, GiftCertificates.com, and Integrated Computing Engines. Earlier in his career, Mr. Lee served as a management consultant with Bain &amp; Company. He holds an MBA from Harvard Business School and a Bachelor’s degree from Brandeis University.</p>
<p>• Marc Rubenfield will become Vice President of Operations for Knome. Mr. Rubenfield has more 20 years of experience in genomics and genomic services. Prior to joining Knome, he was responsible for the sequencing services product line at Beckman Coulter Genomics, including the introduction of next-generation sequencing. Previously, he worked with Agencourt Biosciences, where he led many of the company’s largest sequencing and genomics projects, and with Genome Therapeutics Corporation (GTC), where he helped establish and build one of the first commercial DNA sequencing services. Earlier in his career, he was also involved in several pioneering genomic developments, including the early development and application of multiplex sequencing.</p>
<p><strong>About Knome</strong><br />
Knome is a commercial stage life sciences company that specializes in the interpretation of human genomes. Knome supports researchers with the informatics and software tools they need to investigate the genetic basis of human disease and drug response. In addition, the company provides researchers, drug developers and clinics with end-to-end genome interpretation solutions.</p>
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