Saving Children’s Lives with Big Genomics Data

It’s estimated than one in 30 children is afflicted by one of 8,000 or so genetic diseases that we have discovered. Thanks to progress in the world of genomic testing—including faster genomic sequencers and better algorithms for making more accurate diagnoses—doctors are making progress in identifying genetic diseases and getting children the treatment they need.

While the medical community has been studying genetic diseases for decades, its ability to correctly diagnose genetic diseases and prescribe a suitable course of treatment has been limited. That puts stress not only on the patient, but on the patients’ families too.

One group that’s pushing the envelope in genomics is Children’s Mercy Hospital of Kansas City. Shane Corder, a senior HPC system engineer at Children’s Mercy, shared his experiences with pediatric genomics during a keynote address at the recent Leverage Big Data conference in Florida.

“We know the causes of less than 5,000 of these genetic diseases,” Corder says in the keynote, which you can view on YouTube. “Diagnoses often take years. That’s unacceptable for families and ultimately it should be unacceptable to society as a whole.”

Childrens Mercy

Children’s Mercy is a leader in the adoption of genomics in a clinical setting, and has treated thousands of children and babies over the past few years. It has two primary types of patients, include newborns who display characteristics of a genetic disease—where time is critical–and children who have been unable to get an accurate diagnose elsewhere.

The hospital brings two main genomics tests to bear on these patients, including full-genome tests and partial genome tests. Genetic sequencing is a very data- and compute-intensive business. With more than 6.4 billion letters in a person’s DNA–which involves 22,000 genes that code for 100,000 proteins–there’s a lot of data to analyze.

It took 10 years and $3 billion to completely map the first human genome, which you will remember as the Human Genome Project. But thanks to technological advances over the years—including next-gen sequencers from Illumina and the Dragen Bio-IT processor from Edico Genome—geneticists, doctors, and technologists have whittled down the amount of time it takes to sequence a given person’s genome, which comes out to about 250GB per person.

“There are some fairly exciting new technological advances that we’re hoping to implement here in the center that will eventually let us go sub-24 hours on a full genome,” Corder says. “Currently our fastest sequence technology is pushing 50 hours for a full genome, from sample-taking to diagnoses.”

When Corder joined the team, the hospital was able to diagnose and begin treatment (using standard medical approaches mostly—gene therapy is something else entirely) of genetic diseases on about 47 percent of its patients. Now it’s up to 52 percent of its patients.

“Genomic sequencing is wonderful, but it’s not infallible,” he says. “When a child is waiting for a diagnoses, a lot of times the disease lays waste to their body or their mind. With quicker diagnoses and treatment, that can ultimately change the child’s life forever.”


21,840 thoughts on “Saving Children’s Lives with Big Genomics Data

  1. I paid for this one searching for a ideal present for the my personal mother. On headphone arrived within a perfect purple tied up box. This is the greatest hunting gifts under that holiday tree!! The actual headphone always seemed awesome, still the mother was great boned and headphone was somewhat tight, although the a great gift! I like things.

  2. Quite when i ordered that I was thinking things was going to be any pleasant but cheaply done bracelet best for stocking stuffers. Still it is has made beautifully and are heavy and so it really is not really plastic material or conveniently chipped metal. The mom liked that. This is a bit on the smaller side so if you posses a larger wrist i wouldnt recommend that but it is hence well worth their bargain amount!!

  3. I hope that almost all English loudspeakers in Israel may join us in helping IBA News employees maintain jobs they do so well, and then we will continue to get our moment of recognition as Israelis. [url=http://www.jacketscanadagoose.us.com/]canada goose jackets[/url]
    This market leaders, who were accumulated with The city for any wealthy-nations summit, explained this European president may prevent more difficult penalties simply by simply acknowledging your legitimateness in the fresh Ukrainian government and also ending assist for an insurgency in eastern towns which is broadly regarded as backed by the particular Kremlin. There was no mention of coming back again Spain s annexation with the Ukrainian spot associated with Crimea, which often brought on the ecu disaster. [url=http://www.rosherunshoes.com.co/]roshe run shoes[/url]
    The episode slain seven You.Azines. people, such as five Pro’s authorities as well as a person in Jordanian brains. [url=http://www.cheapjordanshoes.us.org/]jordan 1[/url]
    Yandex Attempts Putin’s Head With The german language Gref Table Session [url=http://www.boots-uggs.us.com/]Ugg Outlet[/url]
    Maqui berry farmers only go to a fraction from the higher price ranges. Only about 1 / 3 of the ret [url=http://www.AtlantaFalconsJersey.us.com/]Cheap Jerseys[/url]
    sraeli adviser Jonathan Pollard in a few days when he

  4. Infographics often produce interaction any time they’re published with a blog. [url=http://www.michaelkors-bags.us.com/]Michael Kors Outlet[/url]
    Ough.Ersus. Sen. Bob Walsh, D-Mont., is actually taking care of an answer to the actual Highway Have faith in Fund crisis, although won’t possibly be uncovering the particular main features yet, said Andrea Helling, Walsh’s key involving personnel. [url=http://www.uggbootsblackfriday.us.com/]http://www.uggbootsblackfriday.us.com[/url]
    The sequence, made up of 15 displays during the entire following three months, goes by means of August. 20. [url=http://www.oakleysunglasses.nom.co/]cheap oakley sunglasses[/url]
    Your boy was able to get free from his / her parents’ Northeast Linden Avenue condominium on Feb 5th morning hours, May Twenty-three, though their pop seemed to be asleep along with mom was absent, as outlined by law enforcement. [url=http://www.coachonlineoutlet.us.org/]Coach Outlet Online[/url]
    Hamas gripped the Gaza Reel from Abbas causes in 07, leaving your Palestinians with two rival government authorities, the Hamas regime in Gaza along with Abbas Palestinian Authority in autonomous elements of the West Financial institution. [url=http://www.ArizonaCardinalsJersey.us.com/]Cheap Jerseys[/url]
    “But that,” he proceeds, “is working. People are starting to hear.” [url=http://www.michaelkorsbags.nom.co/]Michael Kors Outlet[/url]
    Here’s a look at the difficulties surrounding the case: [url=http://www.uggbootsblackfriday.us.com/]Ugg Outlet Online[/url]
    “You’re encouraged to almost crack open,” Allen suggests. “And the problem is, there is no one at this time there to put a person back together. [url=http://www.oakleyonlinesunglasses.us.com/]cheap oakley sunglasses[/url]
    Chris Brown leafy has been released from a Are generally County jail, following he has been imprisoned for violating some sort of court order relating to the assault of his ex-girlfriend Mary j in 2009.

  5. All educators worth their salt will quickly see the value of the Visible Thinking framework for his or her students. Perhaps, even more importantly, they’ll rediscover the joyous dichotomy of being learner and teacher simultaneously. Thinking will be the gold for the future. Making Thinking Visible allows all educators to start unearthing the nuggets.A significant contribution to the literature on thinking.
    http://www.imhotel.net/?document_srl=214602 http://www.imhotel.net/?document_srl=214602

  6. The motherinlaw as after plentiful desert ruined beside be round mole treads reignited resentment a zipper paused widely among Palestinians following the occupied territories. Things such while raw criminal, raw land and berserk stepson are neither onto the things although others shouldn’t understand whomever beside some usual cougar or maybe other are sauce toward we dishes.
    http://rarebook.ncity.net/xe/?document_srl=549667 http://rarebook.ncity.net/xe/?document_srl=549667

  7. Genealogy Daniel Ingham will communicate on “Civil Battle Pension Applications of Howard County Oughout.S. Shaded Troop Veterans” at 6 p.mirielle. at the monthly meeting of the Howard County Family history and genealogical Society staying held with the Senior Center, 9401 Paul Road. Each one is welcome. Information: 410-313-1400. [url=http://www.louisvuitton-outletonline.us.com/]Louis Vuitton Outlet[/url]
    The collaboration led to a brand new Tony nomination on her efficiency. This is a great recognize for being here and stand for your show and to commemorate the idea, the lady stated. [url=http://www.cheapuggssale.us.org/]cheap ugg boots[/url]
    Elevated erythroferrone keeps in check hepcidin and also enables much more in terms of iron to be made designed for crimson blood-cell production. [url=http://www.AtlantaFalconsJersey.us.com/]http://www.AtlantaFalconsJersey.us.com[/url]
    Courson believes McConnell ohydrates stance issues a disagreement over efforts to add a research college to the Higher education of Charleston, that was expected to possibly be debated again Wednesday within the Senate. [url=http://www.cheapjordanshoes.us.org/]jordan 8[/url]
    pshire’s ideal all-natural, national and historical assets. [url=http://www.moncleroutlet.net.co/]moncler jackets[/url]
    Bonuses (lb2 nb6 markers 0)…….. 8-10 [url=http://www.coachfactoryoutlet.click/]http://www.coachfactoryoutlet.click[/url]
    after coping with concussion symptoms, batted 8th and journeyed 2-for-2 with two walks. Gomes ended up being the ninth batter. [url=http://www.monclerjacketsonline.us.com/]moncler jackets[/url]
    Health Care and also Social Companies [url=http://www.airjordanshoes.me/]Jordan Wholesale shoes[/url]
    SHARECLOSEBloggerGoogle+Live JournalPlurkStumble UponCANBERRA, Australia–Australia Prime Minister Tony morrison Abbott, who wishes to get rid of the country’s unpopular carbon dioxide duty upon industrial polluters, on Tuesday identified You actually.Ersus. Web design manager Barack This administration’s decide to slash U.Ersus. greenhouse gasoline by-products because practical ways.

  8. Narsing [url=http://www.rosherunshoes.com.co/]Nike Roshe Run[/url]
    The groups of the two courses and 4 climbers who fell into to their fatalities last week within the 14,410-foot glaciated top may do not be retrieved as a result of harmful geography, authorities point out. [url=http://www.monclerjacketsonline.us.com/]moncler online outlet[/url]
    arlier. Now with the actual boat hospital, we have been lucky with a cure for a better living,” smiled Anjana Das, hawaiian isle dweller within the Dibrugarh district though talking to the particular Charkha Development Connection Network. (ANI)Simply by Azera Parveen Rahman [url=http://www.AtlantaFalconsJersey.us.com/]Cheap NFL Jerseys[/url]
    Chander requested your university experts to ensure that the scholars board the particular train leave Lugansk, some 800 km through the Ukrainian capital Kyiv. [url=http://www.airmax-90nike.us.com/]nike outlet store[/url]
    , or 1.1 %, in order to 16,722. [url=http://www.ArizonaCardinalsJersey.us.com/]Cheap NBA Jerseys[/url]
    habitat: the sort of place which a particular animal usually resides in or a specific plant typically grows inside – ถิ่นที่อยู่ของพืชหรือสัตว์ [url=http://www.oakleysunglasses.in.net/]oakley sunglasses[/url]
    Dove was known as to state under oath before the PSC in Sept. 27, 2011, at the hearing with Missoula where the commissioners accumulated public touch upon its approaching approval of the sale involving Mountain H2o Company’s parent company, Park Water Co. connected with California, in order to Carlyle Infrastructure Companions. [url=http://www.airmax-90nike.us.com/]nike factory outlet[/url]
    Meters. Dieudonn a new cependant transmission cual l accroissement en detective azines curitaire rendu in cessaire componen r arriv electronic huge des 3rd r fugi ohydrates denver colorado tait cher ainsi que dont ce spending budget annuel du gouvernement ne comportait pas deb allowance suppl mentaire pour ur pondre cet afflux soudain. Ce gouvernement se rrrvrrle rrtre contraint p chemical penser additionally dump are generally s curit , a-t-il dit IRIN minus donner de chiffres.

  9. Human population party [url=http://www.uggbootsblackfriday.us.com/]cheap ugg boots[/url]
    IGA outdoor cooking with charcoal, 16.6 oz carrier, $2.99 [url=http://www.AtlantaFalconsJersey.us.com/]Wholesale Jerseys[/url]
    “We ve had positive results in that area from Alabama so i m appreciative of all the assistance and the sources we receive the management in order to make which happen.” [url=http://www.uggbootsblackfriday.us.com/]Uggs For Women[/url]
    The aircraft failed in the vicinity of a property and Recreational vehicles which were stationed on the holiday resort, nevertheless didn’t reach almost any. Cottle said he / she did not know however if Daniels had taken removed from, as well as had been seeking to territory from, the airport, which can be in relation to one-quarter of any kilometer through the holiday resort. [url=http://www.coachoutletstoreonline.me/]Coach Outlet[/url]
    Colonel Charlie Warren, a Government spokesman, mentioned Bergdahl, who is currently being cared for in a US military services hospital within Landstuhl, Germany, we hadn’t yet spoken with his mothers and fathers. [url=http://www.moncleroutlet.nom.co/]moncler outlet[/url]
    “I’m existing a goal,” Lambert said. “There is really a hype regarding the class at this time and there is a lot of self-assurance.” [url=http://www.michaelkorsbags.me/]michael kors outlet online[/url]
    HRH Title Prince Hussein upon Friday visited the concluding ceremony on the 9th Allgau Orie [url=http://www.AtlantaFalconsJersey.us.com/]Cheap NHL Jerseys[/url]
    honest operate sydney Stick to topic” [url=http://www.moncleroutlet.nom.co/]moncler online outlet[/url]
    Just like Sars, seems like to cause a lungs contamination, having people suffering shhh, the like and also a heat. Nevertheless Mers can vary for the reason that furthermore, it causes speedy kidney failure.

  10. Empire Stage Manufacturing Corp., a new 95-year-old Mukwonago company that claims it’s the founder of the contemporary leveling device used in from the industry, continues to be acquired by Milwaukee Application of Brookfield. [url=http://www.coachoutlet.nom.co/]http://www.coachoutlet.nom.co[/url]
    Detectives discovered several “common factors” between your Sunday episode and the, 20, on Friday, the NYPD said. [url=http://www.canadagooseoutlet.site/]http://www.canadagooseoutlet.site[/url]
    This can not improve calmness; it’s going to bolster terrorism. [url=http://www.coachonlineoutlet.us.org/]Coach Factory[/url]
    By D GORDON BLANKINSHIP, Associated Media [url=http://www.cheapjordanshoes.us.org/]cheap jordans[/url]
    Just about every entire body have their own plans, explained Avraham Bracha, representative on the Shorek Environmental Product, which covers your Mateh Yehuda, Beit Shemesh in addition to Abu Ghosh parts. [url=http://www.boots-uggs.us.com/]Cheap Uggs[/url]
    Your ex husband, Raymond Acus, has been more directed saying: All of us don t would like platitudes; we want actions. [url=http://www.airmax-90nike.us.com/]nike outlet store[/url]
    This Tweets Authorities as well as National politics group accepted this placing which has a #BestPractice hashtag internet marketing “creative together with your initial twitter.Inches [url=http://www.cheapnfljerseys.site/]cheap nfl jerseys wholesale[/url]
    The actual up-front talk about transaction, very similar to $350 mil distributed around Twenty years, stomach from the state azines day you need it accounts in addition to would be refunded together with total annual $17.5 various thousand distributions by Ohio s tobacco negotiation above 19 years. Underneath the prepare, any state-dominated aboard can watch over the location ersus money at as couple of as three years or years, according to whether its ebooks are nicely balanced.

  11. I met Warney in a book signing just after the 1999 World Cup, and mentioned that I’d just been to see him in the match against Pakistan in Cardiff. However this proved to be out of step with society when I successfully sued the Government. But by not inviting her, it gives the press a field day to speak about how stuffy the Establishment is.
    http://www.atek.co.kr/xe/?document_srl=303944 http://www.atek.co.kr/xe/?document_srl=303944

  12. Even though those updates happen to be enough to help keep Apple’s status because the the planet’s most valuable company, they didn’t quieted persisting queries about you can actually prospective buyers in the middle of intensifying competition using unit designers. [url=http://www.louisvuittonbags.nom.co/]Louis Vuitton Outlet Online[/url]
    California Chrome beat them both, yet finished tied up for final, possibly on account of a cut foot which he apparently continual after booming another mount leaving this starting entrance. [url=http://www.bootsuggcheap.us.com/]Uggs Outlet[/url]
    Il arrive egalement que vos attaquants arm azines tendent des cadavres sur les paths pour dissuader vos gens delaware fuir. Certaines familles ont d fin de marcher durant la nuit pour viter les attaques. Elles ont mang ce qu elles parvenaient trouver ce long du chemin voire se seront nourries du lait de leurs t tes, dont une grande partie sont mortes ring le trajet. [url=http://www.AtlantaFalconsJersey.us.com/]Cheap NHL Jerseys[/url]
    Seth Borenstein could be used with [url=http://www.louisvuittonbags.nom.co/]louis vuitton outlet online[/url]
    Trotz dieser Sicherungsverwahrung hatte 3rd r. Langzeitausgang. Dieser battle demnach Teil seiner sozialtherapeutischen Behandlung. Emergeny room habe sogar über Nacht der JVA fernbleiben können, ohne dabei von Beamten begleitet und beobachtet zu werden.

Leave a Reply

Your email address will not be published.