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Partners for the Future students are Intel semifinalistsCongressman Steve Israel (D-NY) joined CSHL in congratulating Long Island high school students who were this year’s Intel Science Prize Semifinalists. Two of these 40 local semifinalists are currently participating in CSHL’s Partners for the Future Program (PFF): Syosset High School seniors Priyanka Kumar and George Wang. A competitive program that selects participants based on a rigorous application process during their junior year, the PFF program invites participants to become members of one of CSHL’s 52 investigator-led laboratories. Priyanka teamed up with cancer biologist Mikala Egeblad and George joined the lab of structural biologist and Howard Hughes Medical Institute Investigator Leemor Joshua-Tor.

Investigator update: Recognizing local partners who are supporting research in breast cancer at the LaboratoryClinical Associate Professor Lora Weiselberg, M.D., of Hofstra North Shore-LIJ School of Medicine, teamed up with CSHL Professor Nick Tonks and Assistant Professor Mikala Egeblad to update local cancer advocacy and support groups on the current status of breast cancer treatment and next-generation therapeutic possibilities. The CSHL scientists are using their expertise in

how enzymes influence communication signals in cells to address current obstacles to cancer treatment: metastasis and drug resis-tance. Advanced imaging technologies allow Dr. Egeblad to watch tumors grow in vivo. Dr. Tonks’ understanding of proteins allows him to pursue new options for drugs targeting HER2-positive breast cancer tumors, a type that is particularly hard to treat.

Faculty & Friends

Stillman wins Tabor Research AwardCSHL President and Cancer Center Director Bruce Stillman, Ph.D., is an active researcher with many honors recognizing his pioneer- ing work on DNA replication. He has now won the 2014 Herbert Tabor Research Award from the American Society for Biochemistry and Molecular Biology, and presented a lecture at its annual meeting. The award is given for excellence in biological chemistry and molecular biology and contributions to the community of scientists. Previous winners include Nobelist and CSHL alumnus Phillip A. Sharp (2009), whom CSHL recognized with a Double Helix Medal in 2006.

Kepecs wins McKnight AwardAssociate Professor Adam Kepecs, Ph.D., received the Memory and Cognitive Disorders Award from the McKnight Endowment Fund for Neuroscience for his work on the nucleus basalis (NB). NB is a vitally important but poorly understood part of the brain whose degeneration parallels the decline of cognitive functions in patients with Alzheimer’s disease, Parkinson’s dementia and age-related cognitive decline. Using state-of-the-art behavioral electrophysiology, quantitative psychophysics and optogenetics, Kepecs hopes to identify fundamental principles of neural circuit function to develop therapeutic treatments for cognitive diseases.

Trustee Roy Zuckerberg endows cancer professorshipThe first Roy J. Zuckerberg Lecture featured cancer physician and researcher Siddhartha Mukherjee, who won the 2011 Pulitzer Prize for The Emperor of Maladies: A Biography of Cancer. Introducing the event was David Tuveson, a fellow M.D./Ph.D.

who runs CSHL’s Cancer Therapeutic Initiative and who has been named the Roy J. Zuckerberg Professor of Cancer Research. “We’re grateful for the support of trustees who understand the importance of a strong institutional endowment, a key factor in

enabling innovative scientists like Dr. Tuveson to make progress in defeating the most deadly cancers,” said CSHL President Bruce Stillman.

Dr. Tuveson was recently award- ed the prestigious 2014 Jan Waldenstrom Medal by the Swedish Society of Oncology for outstanding contributions to cancer research. An expert in pancreatic cancer, Dr. Tuveson is also the Director of Research at the Lustgarten Foundation. At CSHL, the Lustgarten Foundation Cancer Research Laboratory is focused on early detection and finding a cure.

Herbert Tabor

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F E A T U R E S

2 Sequencing drives innovationCreative applications of DNA sequencing keep CSHL at biology’s leading edge

5 Help solve the puzzleOne researcher’s personal fight against autism

6 Watson School 2014 Ph.D.s

8 One experimentSometimes our cells express only one gene copy. Why?

10 Research profile: Marja TimmermansA distinguished geneticist is solving age-old mysteries about how plants develop

13 Got lactase?At Saturday DNA! lab, kids and parents join forces to explore lactose tolerance

Volume 34 • Issue 1 • 2014

Download the CSHL Harbor Transcript iPad app to view extras for this issue!

H A R B O R T R A N S C R I P T

F A C U L T Y & F R I E N D S

14 Investigator update: Breast cancer research

Partners for the Future are Intel semifinalists

15 Kepecs wins McKnight Award

Stillman wins Tabor Research Award

Roy J. Zuckerberg professorship

16 Mitra recognized by National Science Foundation and IEEE

Father To Son, by James D. Watson

Watson Award established by Hope Funds

Jim Simons elected honorary trustee

Father To Son, by James D. Watson published by CSHL PressAlways iconoclastic, in both science and literature, James D. Watson has written his autobiography in installments, beginning with the now classic The Double Helix, followed by Genes, Girls, and Gamow and Avoid Boring People. In Father To Son, the latest of his unsparing self-examinations, after a lifetime of exceptional accomplishments, Watson shows us that his heritage was remarkable and that “Most certainly I didn’t emerge from nowhere!”

Father to Son was first intended as a small, privately published collection of the writings of his father. What emerged was a more complex story—the chronicles of an archetypical American family from before the Civil War to Vietnam.

“In this poignant book, Dr. Watson savors the evidence he finds about his father’s life and values. It’s a perfect book for anyone who has ever learned something from a father.”

Walter Isaacson, author of Einstein: His Life and Universe and Steve Jobs

Mitra recognized by National Science Foundation and IEEE Partha Mitra, the Crick-Clay Professor of Biomathematics at CSHL, takes both neuroanatomical and theoretical approaches to understanding structural and functional properties of the mammalian brain. He received two recent honors for his multi- disciplinary approach: the George S. Axelby Outstanding Paper Award of the Control Systems Society of the Institute of Electrical and Electronics Engineers, and the INSPIRE grant, awarded by the National Science Foundation (NSF). Both recognize a common thread in Mitra’s research: an attempt to bring concepts from physics and engineering to bear on outstanding problems pertaining to the difficulty of understanding the mammalian brain.

James D. Watson Award established by Hope FundsThe Hope Funds for Cancer Research has created the James D. Watson Award, with Nobel laureate and CSHL Chancellor Emeritus Dr. Watson being the first recipient. The award honors

Watson for his unprecedented contributions to the field

of biology and cancer research and will

only be awarded to scientists who make comparable seminal dis- coveries. It was present- ed at the

Metropolitan Museum of Art

in New York City.

The Laboratory’s sequencing core facility promotes discovery by making cutting-edge technology available to every CSHL scientist.

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Cold Spring Harbor Laboratory has been a central pro-tagonist in the stories of genetics and genomics from their beginnings. Here, during the 1940s, the pioneers of molecular genetics annually met and learned from one another. In 1953, a very young James D. Watson made the first public presentation on the double helix in Bush Hall. In the late 1980s and early 1990s, Jim headed the Human Genome Project (HGP), the historic government-funded effort to map our genetic material.

Publication of the first draft of the human genome in 2001 heralded a new era in the biological sciences. According to a study by the Battelle Memorial Institute, our federal investment of $3.8 billion in the HGP through its comple-tion in 2003 generated an estimated $796 billion in economic activity by 2011, much of it in the life sciences. That’s $141 for every public dollar invested.

In ways you may not be aware of, genome sequencing, not just of human DNA, is impacting our personal health, how we think about feeding the world and how we address climate change by identifying alternative energy sources. But most profound has been the HGP’s impact on the study of biology itself. In this issue, we take you inside the CSHL research enterprise to see how our scientists are harnessing the sequencing revolution to push the boundaries of biology.

Understanding genomes is central to CSHL. It is a theme that connects all of our research programs and influences what we are teaching in our wide-ranging biology education programs for middle and high school students. After you read the feature about genomics, notice how all of the other articles—about plant biologist Marja Timmermans; understanding autism; the work of the latest Ph.D.s from the Watson School of Biological Sciences; a family program of the DNA Learning Center; and a pictorial view of “One Experiment”—are con-nected by the conceptual thread of understanding genes and genomes.

At CSHL, genomics and genome sciences are not “siloed” research programs. They are an approach to discovery that drives research forward across fields. It also provides a great model for how wise public investment in basic research can yield benefits to science and society beyond our most optimistic expectations.

P R E S I D E N T ’ S M E S S A G E Harbor Transcript

Volume 34, Issue 1, 2014

Harbor Transcript is published by the Department of Public Affairs of Cold Spring Harbor Laboratory.

Public AffairsOne Bungtown RoadCold Spring Harbor, NY 11724

516.367.8455publicaffairs@cshl.edu

www.cshl.edu

V.P. Communications: Dagnia Zeidlickis

Managing Editor: Phil Renna

Science Writers:Jaclyn JansenPeter Tarr

Design & Layout:Margot Bennett

Photography: Philip Renna: front cover, 1, 2, 4;Courtesy Cook/BioEdge: front cover;Charles Camarda: inside front cover;Courtesy Timmermans lab: 1, 10–12;Gina Motisi: 1, 13, 15;Juan Gaertner/Shutterstock: 3; Constance Brukin: 6–7, 14; Courtesy Spector lab: 8–9; Miriam Chua: 10, 16 Courtesy CSHL Press: 16; Courtesy Simons: inside back cover Courtesy CSHL Meetings & Courses Program: back cover

On the cover: A special kind of glass slide, known as a “flowcell,” is where DNA sequencing happens. DNA is loaded into the vein-like channels etched in the slide’s surface. The slide is then inserted into a sequencing machine where genetic information—encoded by the letters A, T, C, and G—is read.

OfficersJamie C. Nicholls ChairmanRobert D. Lindsay Vice-ChairmanMarilyn H. Simons, Ph.D. Vice-ChairmanLeo A. Guthart TreasurerPaul J. Taubman SecretaryBruce Stillman, Ph.D. President & CEOW. Dillaway Ayres, Jr. Chief Operating Officer

Honorary TrusteesBayard Clarkson, M.D.Norris W. DarrellCharles F. DolanHelen Ann DolanLola N. Grace David H. KochMary D. LindsayDavid L. Luke IIINancy Abeles MarksEduardo G. MestreWilliam R. MillerAlan SeligsonJames H. Simons, Ph.D.James D. Watson, Ph.D.Henry Wendt III

Scientific TrusteesTania A. Baker, Ph.D.Cornelia Isabella Bargmann, Ph.D.Michael Botchan, Ph.D.Charles L. Sawyers, M.D.Samuel L. Stanley, Jr., M.D.Bruce Stillman, Ph.D.

Individual TrusteesDavid BoiesCharles I. CogutJacob GoldfieldLeo A. GuthartJeffrey E. KelterLaurie J. Landeau, V.M.D.Thomas D. LehrmanRobert D. LindsayRobert W. Lourie, Ph.D. Howard L. Morgan, Ph.D.Jamie C. NichollsFrank T. O’KeefeLouise M. ParentJohn C. PhelanThomas C. QuickWilliam S. RobertsonGeorge SardThomas A. Saunders III Marilyn H. Simons, Ph.D.Dinakar SinghJames M. Stone, Ph.D.Paul J. TaubmanEdward TravagliantiRoy J. Zuckerberg

Cold Spring Harbor Laboratory Board of Trustees CSHL Association

CSHL Association comprises some 1000 neighbors and friends of the Laboratory who contribute to the Annual Fund, an essential source of unrestricted support for outstanding young scientists. Association members get to know CSHL scientists at lectures, concerts, dinners and other social events that support the Laboratory. Membership levels start at $100 per year. For more information please contact Karen Orzel, Director, Annual Giving and Donor Relations, at 516.367.6886 or orzel@cshl.edu.

OfficersFrank T. O’Keefe, PresidentW. Fifield Whitman, Vice-PresidentJames A. Woods, TreasurerVirginia Knott, Secretary

Honorary DirectorsMary D. LindsayAnne R. MeierCathy Cyphers SorefPearl F. Staller

DirectorsElizabeth AinslieLori BahnikHans E.R. BoschEdward A. ChernoffSusan A. CohenMaria de LessepsNelson DeMilleCarolyn GulottaNancy Lippman Israeli, M.D.Joel J. Kassimir, M.D.Kassahun KebedeLaureen Stanton KnutsenSuzanne LeedsJeffrey A. NagelTimothy Q. O’NeillOlga PharrWhitney F. PosillicoCharles S. Ryan, J.D., Ph.D.Caroline Monti SaladinoTracey DeMatteis SerkoLonnie ShoffHope Geier SmithHeather Lane SpehrNancy SzigethyPeter S. TillesLara S. TrafeletMarjorie J. van de Stouwe, M.D.

Jim Simons elected honorary trusteeThe Board of Trustees elected James H. Simons an Honorary Trustee. Simons is founder of Renaissance Technologies and chairman of the Simons Foundation. “Jim Simons, who employed his mathematical genius to change the way the world thinks about financial markets, is now profoundly changing the world through philanthropy,” said CSHL President & CEO Bruce Stillman. Marilyn H. Simons, who serves as Vice-Chairman of CSHL’s Board of Trustees, leads the Simons Foundation, one of the nation’s leading private funders of basic scientific research. In recognition of their philanthropy, CSHL awarded the Double Helix Medal to Jim and Marilyn Simons in 2008.