Being human: ASHG 2012 annual meeting preview

American Society for Human Genetics delves into specifics of human genome in San Francisco

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SAN FRANCISCO—The human genome starsaligned well for this issue of ddn, allowing us not only tocover major news with initial results from the Encyclopedia of DNAElements (ENCODE) project—showing that much of our human junk DNAisn't junk after all (see October 2012 cover story, "Treasure in thejunk")—but also to have that happen in the same issue we previewwhat is reportedly the largest human genetics meeting and expositionin the world.

Hosted in the "City by the Bay"this year, the American Society of Human Genetics (ASHG) will holdits 62nd annual meeting Nov. 6-10 at San Francisco's MosconeCenter, with more than 6,000 scientists, medical geneticists andgenetic counselors expected to attend and more than 200 companies setto grace the exhibit hall. The meeting headquarters is the SanFrancisco Marriott Marquis Hotel.

The ASHG meeting's scientificsessions, platform presentations and posters will cover a number ofareas, prime among them being gene discovery in human genetics, newinsights and challenges in next-generation sequencing, revelationsabout human genes from studies of model organisms, progress in genetherapy, advances in non-invasive prenatal diagnosis, implications ofpopulation genetic studies, modeling in statistical genetics, datacentralization and its implications for genetics, cancer genetics,clinical and social implications of genomics and improvements ingenetics education.

The meeting also will featurepresentations of ASHG's annual awards (see "Briefs" stories after this article) and the Gruber Genetics Prize.

"Whole-genome and whole-exomesequencing occupy a dominant place in this year's program," Dr.Michael J. Dougherty, ASHG's director of education, tells ddn."These technologies, made possible by rapid increases in sequencingcapacity and bioinformatics and dramatic decreases in cost, areenabling breakthroughs in the discovery of disease genes and theidentification of biological pathways that may be good targets fortherapeutics. Also, this year the ASHG meeting will highlight theextent and importance of rare variation and unprecedented levels ofinternational collaboration via large consortia."

Also, in the realm of public outreach,the ASHG 2012 meeting will host for the first time its Science Café,with the topic being the genetics of autism, he says.

Dr. Mary-Claire King, ASHG presidentand professor of genome sciences and medicine at University ofWashington-Seattle, will kick-off the conference on Tuesday, Nov. 6,with the topic, "The Scientist as a Citizen of the World," withthe meeting capped off by its closing symposium on Saturday, whichwill be "Present and Future Directions for Human Genetics."

The rapidly changing landscape of humangenetic research has brought with it significant changes for ASHG'sannual meeting, Dougherty notes, saying, "With the rise oftechnologies that allow genomic-scale investigations and thegeneration of large datasets, bioinformatics tools have become anessential part of genetic analysis. In recent years, ASHG hasdramatically increased the number of training workshops involvingbioinformatics tools, such as the UCSC Browser, Galaxy and Ensembl.These workshops are one example of how ASHG supports the professionaldevelopment of its trainees, who are particularly eager consumers ofthese tools, and how it supports the advancement of the researchenterprise itself."

Beyond the knowledge-gaining aspect ofthe show, Dougherty adds that since just 2009, the annual meeting hasgrown from 4,800 scientific registrants to 6,300 and from a 189-boothshow to a 300-booth show. Compared to previous years, registrationand vendor booth sales are up, Dougherty shares, noting that ASHGexpects to sell out booth space—300 booths in total and 210companies among them—and was already at 5,250 scientificregistrants by late September, with an expectation to match or exceedthe group's 2011 record of 6,345 registrants.

New for the 2012 conference will be amobile app related to the show.

"In the past, we've had a mobilewebsite, but this is the first year we're taking advantage of thewidespread use of smart phones to deploy a downloadable mobile app,"Dougherty explains. "We believe this will greatly enhance ourattendees' ability to navigate the meeting and obtain even morevalue from their attendance."

That addition, and the rapid growth ofthe meeting in recent years, probably won't be the only changes tocome soon.

"ASHG continues to be the world'slargest meeting in human genetics and the place where the mostsignificant discoveries are announced. It's also the bestopportunity for researchers from around the world to network withtheir colleagues and to strike up fruitful collaborations,"Dougherty notes. "ASHG's Program Committee and meeting plannersare always alert to new developments that will enhance the experienceof our attendees. And because our IT and meeting-planning expertiseis in-house, we can react very quickly to new trends in the industry.That's one reason that we know 2013 will be even better than 2012."

Cast your vote before you go

BETHESDA, Md.—The American Society ofHuman Genetics (ASHG) reminds you that
Tuesday, Nov. 6 is general election dayacross the United States—as well as the first day of ASHG'sannual meeting in San Francisco. As the organization notes, "Werealize that many of you may be unable to vote at your regularpolling stations. We encourage your participation in the elections.Please consider voting early, which is allowed in most states, orvoting by absentee ballot, which is allowed in all states."

ASHG also notes that attendees for itsannual meeting can visit the website for furtherspecific instructions by state.

Honoring human genetics leaders

BETHESDA, Md.—Although the ASHGhasn't revealed yet who will receive its Gruber Genetics Prize atthe annual meeting in San Francisco, several other annual awardwinners were named during the summer and also will be honored duringthe conference.

Among them is Dr. Uta Francke, whomASHG named as the 2012 recipient of the annual William Allan Award,which recognizes a scientist for substantial and far-reachingscientific contributions to human genetics. Francke, a professoremeritus in genetics and professor of pediatrics at StanfordUniversity, was ASHG's president in 1999. She will deliver herWilliam Allan Award presentation on Nov. 9 during ASHG's 2012annual meeting.

In addition, the organization conferredits 2012 Curt Stern Award on Dr. Jay Shendure, an associate professorof genome sciences at the University of Washington, for work that hasbeen of "great impact to human genetics research and the discoveryof genes contributing to the development of high-throughputsequencing and its application to exomes and functional studies ofnon-coding DNA disease," according to ASHG. The Stern award ispresented annually to recognize outstanding scientific achievementsoccurring in the last decade.

The 2012 Victor A. McKusick LeadershipAward will go to Dr. Francis Collins, director of the U.S. NationalInstitutes of Health, making him the sixth recipient of the award,which recognizes individuals whose professional achievements havefostered and enriched the development of human genetics.

Recipients of the McKusick award"exemplify the enduring leadership and vision required to ensurethat the field of human genetics will flourish and successfullyassimilate into the broader context of science, medicine and health,while also making major contributions to awareness or understandingof human genetics by policy makers or by the general public,"according to Dr. Joann Boughman, executive vice president of ASHG.

Finally, Dr. Alan Emery will receivethis year's Excellence in Education Award "for contributions ofexceptional quality and great importance to human geneticsinternationally," and more specifically, notes Boughman, for being"one of the most prolific authors of important genetics texts inthe world. One of his textbooks has been republished in 12 editionsand translated into seven languages. For many in the field of humangenetics, he is simply known as 'the expert.' He is also a mostgracious gentleman."

About the ASHG

The American Society of Human Geneticswas founded in 1948 and considers itself the primary professionalmembership organization for human genetics specialists worldwide. Thesociety's nearly 8,000 members include researchers, academicians,clinicians, laboratory practice professionals, genetic counselors,nurses and others who have a special interest in the field of humangenetics.

ASHG serves research scientists, healthprofessionals and the public by providing forums to:

• Share research results at annualmeetings and in The American Journal of Human Genetics
• Advance genetic research byadvocating for research support
• Enhance genetics education bypreparing future professionals and informing the public
• Promote genetic services andsupport responsible social and scientific policies

Members of ASHG work in a wide range ofsettings, including universities, hospitals, institutes and medicaland research laboratories.


Workshops and trainee events

Many of the following events at theASHG annual meeting in San Francisco require advance registration.Seating tends to be limited, so please register early; however, alsobe aware that some events may already be fully booked.

• Undergraduate Faculty GeneticsEducation Workshop
• High School Workshop (for SanFrancisco students and teachers)
• Trainee-Mentor Luncheon
• Discovering Biological Data at NCBI
• Clinical Interpretation ofCytogenomic Arrays: Tools and Resources
• UCSC Browser Interactive Workshopfor Intermediate/Advanced Users
• Social Media + Scientists = Success
• Diagnostic Challenges: Review andDiscussion of Unique Cases (Rare and Unknown)
• Galaxy 101: Data Integration,Analysis and Sharing
• Trainee Development Program andNetworking Session
• Mock Study Workshop
• Galaxy Workshop: Working withHigh-Throughput Data and Data Visualization
• Ensembl Browser InteractiveWorkshop for Intermediate/Advanced Users

Electronically speaking …

ASHG is encouraging the use of socialmedia before, during and after the 2012 annual meeting as a means toshare information and network with others who are attending themeeting. Free wireless Internet access will be available in publicareas of the convention center and access also will be available inlimited common areas; however, that free access reportedly will notbe available inside the exhibit hall or meeting rooms.

The society encourages conferenceattendees to follow ASHG on Twitter (@GeneticsSociety) and to use the#ASHG2012 meeting hash tag to follow the latest updates and join inthe conversation about the ASHG 2012 Annual Meeting, as well as tofollow ASHG on Facebook at

Attendees are welcomed to blog or tweetabout what they hear and learn at ASHG's annual meeting, but areasked to refrain from sharing information online when speakerexplicitly requests they do so. The presentations "are 'Tweetable'and shareable by default," ASHG notes, "but speakers can ask thatspecific details or slides are not shared."

In addition, attendees are not allowedto capture, transmit or redistribute data presented at the ASHG'Sannual meeting, which may preclude subsequent publication of the datain a scientific journal. ASHG also asks attendees to be respectful ofjournal embargo policies and not to jeopardize the work of theircolleagues or engage in rudeness, slander or personal attacks.
In other electronic prohibitions,attendees are "strictly prohibited from using cameras and all otherrecording devices in all meeting session rooms, on the exhibit hallfloor and in all poster/oral presentations," ASHG notes. "Thismeans that attendees are not permitted to take pictures of speakerslides or posters."

ASHG notes that in addition to itsTwitter and Facebook presence, interested parties can join ASHG'sLinkedIn group to gain access to the job announcements posting boardfor current position openings in genetics-related careers, developnew connections in the field and network with colleagues, and keep upwith the latest industry and research news; subscribe to ASHG'sYouTube channel to view webcast recordings of selected ASHG annualmeeting sessions and educational videos; and subscribe to ASHG'sVimeo channel to view full-length webcast recordings of selectedannual meeting sessions and more.

Social and special events

ASHG opening mixer and trainee mixerwithin a mixer
San Francisco Marriott Marquis Hotel
Yerba Buena Ballroom 7/8/9, Lower Level
Tuesday, Nov. 6
7 p.m. to 8:30 p.m.

This event is open to all scientificregistrants and paid guests. The mixer offers a relaxed atmosphere inwhich attendees can become acquainted and reacquainted withcolleagues. Light snacks, refreshments and a cash bar will beoffered. Trainees should look for their designated area. Traineeswill receive one complimentary beverage ticket.

An Interactive Play: Drama,Discourse and Genomics: From IRBs to IFs
Moscone Center, Room 300, EsplanadeLevel
Friday, Nov. 9
7 p.m. to 9 p.m.
Separate advance registration required

This interactive session weavesaudience participation with the premiere of an original newvignette-play that illuminates ethical, psychological, social, legaland policy concerns surrounding the sharing of information generatedby next-generation sequencing. Between each act of the fictionalizedplay, audience and actors are engaged in discussion as the vignettesevolve, from an institutional review board (IRB) meeting through theinformed consent process to the disclosure of incidental findings.

The presenters, Lynn Bush and KarenRothenberg, aim to delve into controversial ethical issues thatinclude how much should be reported, what specifically and to whom,as well as exploring under what circumstances such reporting shouldoccur and how sharing medical information differs in varyingcultures.

As ASHG notes, "This dramatization isintended to foster a deeper appreciation for conflicts whenpotentially disclosing massive amounts of genomic information. Thedynamics of this play revolve around a family (including a childsymptomatic with an autosomal recessive disorder and an 'unaffected'sibling), their geneticist, genetic counselor and a discussion amongIRB members, as they all experience the challenges of a genomicresearch study. Interspersed throughout the play, we explore togetherthe complex implications of genomic information, particularlydilemmas raised by the return of results. Contextual subtleties willbe brought to life by the volunteer actors who are ASHG attendees."

Seating is limited, so attendees needto register in advance if they haven't already done so and if thereis still room. The $10 fee for the performance will offset the costof evening refreshments, and a cash bar will be available at theevent.

Two unavoidables: Weather and taxes

San Francisco is beautiful and vibrant,but it's also a coastal city that you will be visiting in latefall. Be aware that November weather in the city brings with it anaverage high of 64ºF and an average low of 51ºF, with about threeinches of rain during the month. As the ASHG notes, "The goldenrule when packing for a trip to San Francisco is to bring layers. Fogcan roll in at any time, and areas near the water can feel cool."

Another note about your clothing—orrather, one of your accessories to it: To make sure you can bestmanage what's in your wallet or purse, you should remember that inSan Francisco, there is a 9.5-percent sales tax. Also, the city hastaxes that are applied to your hotel rate per night as follows: a15-percent occupancy tax, a 1.5-percent tourism fee and a 25-centcommerce fee.

Family matters

There will not be any formal child careservices at the 2012 ASHG meeting, so attendees who are bringingyounger family members along may need to make arrangements directlywith the hotel where they have reserved their rooms.

Also, while ASHG doesn't endorse anychildcare or babysitting services specifically, it notes that thereare at least three programs available in the area: Bay Area ChildCare Agency at, Bay Area 2nd Mom Inc. and American Child Care Inc.

A "family room" will be located inthe convention center so that parents and children will have a placeto relax during the meeting, and the room will be equipped with"comfortable furniture and separate private areas for nursingmothers," ASHG notes. However, they cannot use the room forbabysitting services. ddn

Career concerns

Career resources and employmentopportunities at the 2012 meeting will be offered in partnership withthe Federation of American Societies for Experimental Biology(FASEB), and a career center will be open in the exhibit hall duringexhibit hours at booth 1700. Coaches will be available to giveattendees career guidance, provide interview tips and critiqueresumes or CVs.
In addition to the onsite services fromNov. 7 through Nov. 9 from 10 a.m. to 4:30 p.m., the ASHG/FASEBCareer Center will operate between Oct. 28 and Nov. 10, available at


San Francisco's cable cars reportedlycomprise the nation's only moving national historical landmark,running on nine miles of track along three of their original routesat speeds of around 9.5 miles per hour. An average of 13 millionpeople travel on the cable car each year, and this unique andnostalgic mode of transportation is popular not just with touristsbut also locals who need to get around San Francisco but don'tnecessarily want to do it on foot, especially when steep inclinesmust be traversed—a frequent situation in the this hilly city.
CREDIT: San Francisco TravelAssociation photo by Phillip H. Coblentz
The tightly packed Victorian-stylehomes of San Francisco, often painted in bright or non-traditionalhouse hues, are a signature image for many when they think of thecity, and some 14,000 Victorian-era homes remain in San Franciscodespite 514 blocks of the city going up in flames following the 1906earthquake. Alamo Square is a good place to see the Victorian homesof Postcard Row, a portion of which is pictures here, with theskyline of San Francisco in the background. Victorian houses in SanFrancisco are often called Painted Ladies.
CREDIT: San Francisco TravelAssociation photo by Christine Krieg
The 1.7-mile-long Golden Gate Bridge isthe only highway connecting San Francisco directly with Marin County.It took more than four years—about 25,000,000 man hours in total—tobuild the Golden Gate Bridge in the 1930s; it officially opened tovehicles on May 28, 1937. The bridge's two tapered towers, which weresculpted in the Art Deco style of the 1930s, were once the tallestbridge towers ever built, soaring 65 stories above San Francisco Bay;also, when the Golden Gate Bridge was built it was the longestsuspension bridge in the world, and the 746-foot suspension towerswere higher than any construction west of New York. More than 40million vehicles cross the Golden Gate Bridge annually.
CREDIT: San Francisco TravelAssociation photo by Phillip H. Coblentz
Alcatraz Island was home to theinfamous maximum-security prison that once held, among others, AlCapone and Robert Stroud, who was known as the Birdman of Alcatraz.Visitors can ferry over to the island to partake of cellhouse toursand get spectacular views of the San Francisco skyline. AlcatrazIsland, like Angel Island in the San Francisco Bay, also once servedas a military post.
CREDIT: San Francisco TravelAssociation photo by P. Fuszard
Lavender agapanthuses complement thefacility in San Francisco's massive Golden Gate Park that some callthe park's "glorious Victorian vase" but is officially namedthe Conservatory of Flowers. Said to be the oldest public growinghouse in California, the conservatory was shipped from London to SanFrancisco in 1875 and is the oldest structure in Golden Gate Park.
CREDIT: San Francisco TravelAssociation photo by Carol Simowitz
If you like seafood—both the tasteand the pervasive smell of it—San Francisco's Fisherman's Wharf isa great place for a snack or a meal, offering a variety of freshseafood that is typically ready for a to-go order. The Dungeness crabat Fisherman's Wharf is one of the main attractions; a San Franciscofavorite, this creature reportedly accounts for about 99 percent ofthe crab catch in the Pacific Ocean. Various tourist spots, shops andeateries are also found near the wharf.
CREDIT: San Francisco TravelAssociation photo by Jerry Lee Hayes


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