Cited for two of the 'best conferences' in genome biology, CSHL gears up for 2nd annual Personal Genomes meeting

Topics include whole genome studies in cancer and inherited diseases, new genome-scanning technologies, and ethical challenges raised by the new field

Cold Spring Harbor, N.Y. – For decades, scientific meetings at Cold Spring Harbor Laboratory (CSHL) have been held in great esteem by scientists for their role in shaping the agenda of molecular biology.  Their reputation for relevance continues, as evidenced by results of a survey of nearly 1,000 attendees of biology meetings over the last year.  Published in the September issue of Genome Technology magazine, the survey identified two CSHL conferences in genomics as the best in their categories.

Based upon a variety of criteria such as quality of speakers, presentation of new data and scientific results, networking opportunities, quality of posters, and overall “bang-for-the- buck” impact, CSHL’s “Biology of Genomes” meeting held annually in early May was a standout winner, ranked as the “most recommended” among general genomics meetings. A second CSHL meeting, “Genome Informatics,” held at the end of each October, was the “most recommended” in the Bioinformatics/Information Technology category.

Excitement about 2nd ‘Personal Genomes’ meeting

These results were announced as preparations reached their final stages for another genomics-related meeting at CSHL. From the 14th to the 17th of September, the Laboratory will host the second annual “Personal Genomes” meeting, which, according to its organizers, will build upon the excitement generated at the inaugural meeting last October.

An editorial in the journal Nature appearing just after that gathering disbanded, late last October, confessed to initial skepticism about whether such a meeting was justified in view of the newness of the field and the paucity of results to date – at the time, the full genomes of only four people had been completed and made public.  But, Nature assured readers after its reporter attended the meeting, participants came to understand that in fact the meeting was overdue, if for no other reason than the fact that “increasingly, private companies are offering personal genome scans and genetic tests for sale – and consumers are buying them.”

As Nature opined, reflecting the view of many at the Personal Genomes meeting, “scientists can and should help the public sift through” newly available (and often quite fragmentary) genomic information generated for sale by a growing number of start-ups.  At the second Personal Genomes gathering, which begins this evening and continues until Thursday, it is almost certain that participants will discuss these commercial developments, the pace of which has only accelerated in the interim.

About the ‘Personal Genomes’ Meeting

About 200 participants are expected to attend the four day-long “Personal Genomes” meeting, which has been organized by a renowned team of scientists, including Dr. George Church from Harvard University, and Dr. Elaine Mardis from Washington University, among others. The meeting will open with introductory remarks by CSHL’s Dr. James Watson, whose own genome was the first to become publicly available, making him the subject of last year’s inaugural meeting.

Dr. Church, a genetics pioneer whose work integrates biosystems-modeling with synthetic biology and personal genomics, will give an overview of the field’s status in available technology and its current applications. Other notable technology-oriented speakers include Dr. Jonathan Rothberg from Ion Torrent Systems, Inc., and Dr. Steven Turner of Pacific Biosciences, who will discuss “third-generation" sequencing platforms that will soon enter the marketplace.

Many genomics scientists working on cancer are trying to unlock the mystery of cancer’s molecular origins and make-up. Molecularly speaking, cancer is not a single disease. Two patients with lung cancer, for example, might have very different diseases stemming from different mutations, and so might not respond the same way to a drug. Dr. Mardis, who is the co-director of Washington University’s Genome Sequencing Center, will present on her group’s efforts to catalogue all mutations in a quartet of breast cancer patients.

The keynote speech on Tuesday will be given by Dr. Thomas Caskey of University of Texas Health Science Center. “Dr. Caskey was one of the early planners of the Human Genome Project,” explains Dr. Mardis. “Now that we are at a stage when genomes are being sequenced in weeks and for medical purposes such as understanding disease causation, his talk will offer a very unique perspective on the past and the future of personal genomes.”

The line-up of speakers includes other preeminent scientists in the field such as Dr. Richard Gibbs, Director of the Human Genome Sequencing Center at the Baylor College of Medicine who will describe his group’s work on sequencing genomes of patients with disease caused by defects in single genes; Dr. Steven Brenner, of UC, Berkeley, who is developing a public database of human genetic variation and its effect, drawing from databases, diagnostic laboratories, and the scientific literature to interpret human genomics data; and many others. A session on the ethical challenges presented by personal genomes will feature a panel of scientists, ethicists and science writers.

“Fostering this type of cross-disciplinary discussion and debate is one of the strengths of CSHL’s meetings program,” says David Stewart, Executive Director of Meetings and Courses at CSHL. “This is where different fields are brought together and driven forward.” The results of Genome Technology’s survey would seem to bear him out.

For more information on attending the conference or to find out about meetings topics and talks for potential news stories, please contact Peter Tarr ( This e-mail address is being protected from spambots. You need JavaScript enabled to view it ) or Hema Bashyam ( This e-mail address is being protected from spambots. You need JavaScript enabled to view it ) at CSHL’s Public Affairs office (516-367-8455).

Cold Spring Harbor Laboratory (CSHL) is a private, not-for-profit research and education institution at the forefront of efforts in molecular biology and genetics to generate knowledge that will yield better diagnostics and treatments for cancer, neurological diseases and other major causes of human suffering.  For more information, visit

Written by: Peter Tarr, Senior Science Writer | | 516-367-8455

Written by: Hema Bashyam, Science Writer | | 516-367-6822