Medicine@Yale

may 2012 volume 8, issue 2 Advancing Biomedical Science, Education, and Health Care Honoring an RNA pioneer, backing science’s next generation In 2007, Natalia B. Ivanova, ph.d., provides young scientists with sup- deceased), a Yale College alumnus arrived at the School of Medicine port that allows them to focus on and physician-scientist at Harvard with ambitious plans. A rising star in science during their earliest years as Medical School and Massachusetts stem cell biology, she had just left a independent researchers rather than General Hospital for five decades. postdoctoral fellowship at Princeton, scramble for funding. Now McCluskey has created a and her first order of business was to The brainchild of Dean Robert J. second Yale Scholar endowment, hire a team for her Yale laboratory. Alpern m.d., the Yale Scholars Award named for Joan A. Steitz, ph.d., Most medical investigators are provides $250,000 per year for four Sterling Professor of Molecular Bio- funded not from a central budget, years to cover salary and start-up physics and Biochemistry, Howard but through grants from the govern- costs for a promising new faculty shapiro harold Hughes Medical Institute investiga- ment or other institutions. Young member at the School of Medicine. (From left) Joan Steitz has been honored by a tor, and pioneer in the study of rna. scientists are pressed to win sup- “This was a tremendous advan- new Yale Scholar fund endowed by Donald Mc- Steitz has said that she “fell in port from these backers, who tend tage, allowing me to get right to Cluskey, the eighth such fund in the initiative love with rna” as a college student in to favor established researchers. But work on my ideas,” Ivanova says, launched by Dean Robert Alpern in 2005. the early 1960s, and she maintained Ivanova, assistant professor of genet- adding that the promise of sup- was endowed in 2006 by Donald S. that focus through graduate school ics, had a leg up: she was the medical port from the Robert T. McCluskey, McCluskey, m.eng., an alumnus of and postdoctoral training. She joined school’s first recruit to benefit from m.d., Yale Scholar Fund sealed her Yale College and the Faculty of En- the School of Medicine faculty in the Yale Scholars initiative, which decision to come to Yale. That fund gineering, to honor his brother (now 1970, and within // Scholar (page 7) Office supporting A firm foothold in the genetics of autism student research New study applies advanced genomics in a celebrates 25 years carefully assembled population to yield some Women who of the first solid data in autism genetics Google the phrase “increase Matthew W. State, m.d., ph.d., had never seriously consid- chances of con- ered a career in genetic research until 1995, when he spent a ceiving twins” few months in a child psychiatry ward during his residency are advised to try at the University of California, Los Angeles. There he cared eating yams. Par- for a few children with Prader-Willi syndrome, a rare genet- ents of children ic disorder caused when all or part of a seven-gene stretch John Forrest suffering from of chromosome 15 is missing. Children with Prader-Willi tend a middle ear to be intellectually delayed and prone to compulsive behav- infection might be advised to “wait iors such as skin-picking and uncontrollable eating. and see” before starting antibiotics. glinn “These kids just had one region lost, but it led to a variety c These disparate pieces of advice of psychiatric manifestations,” State recalls. “It made me start evan m both stem from thesis research by thinking, quite naively, about studying rare mutations as a Matthew State led one of three new genomic studies that provide some Yale medical students that was way of understanding disorders that are much more common of the strongest evidence to date on genetic causes of autism. overseen by the Office of Student in the population.” The notion led State, at age 35, to enroll Research, which celebrated its 25th in the graduate program in genetics at Yale, where others to the notoriously diverse autism spectrum disorders. Stud- anniversary in February. were thinking along the same lines. Most famously, faculty ies have found dozens of genetic blips in people with autism, “Not all student theses lead to member Richard P. Lifton, m.d., ph.d., now chair and which is characterized by repetitive behaviors and problems changes in standards of care, but Sterling Professor of Genetics, had discovered a trove of in communication and social interactions, but researchers many of them do,” says John N. For- new genes involved in hypertension by screening families have struggled to sort out which of these gene variants are rest, m.d., who founded the Office with rare, extreme blood pressure disorders. harmful and which benign. of Student Research 25 years ago and In recent years, State, now the Donald J. Cohen Profes- State and several other groups around the country have has remained its director ever since. sor in the Child Study Center, professor of psychiatry and attacked this problem by focusing on an unusual group of During that time the office has genetics, and co-director of the Yale Program on Neuroge- study participants known as the Simons Simplex Collection evolved to become the main funding netics at the School of Medicine, has been employing the lat- (ssc). Assembled and maintained with funding from the source for medical student research, est genomic technologies to take the same general approach New York City-based Simons Foundation, // Autism (page 7) introduced // Student research (page 7) Non-Profit Org. inside this issue 1 Church St., Suite 300, New Haven, CT 06510-3330 U. S. Postage www.medicineatyale.org 2 Lifelines paid Pietro De Camilli has come full-circle, New Haven, CT from medical student to distinguished Permit No. 526 researcher to translational scientist. 3 New blood The Yale Cardiovacular Research Center amps up its collaborative potential. 5 Shutting down malaria A cross-campus collaboration advances treatment for the deadly disease. also Advances, pp. 3, 5 Out & About, p. 4 @YaleMed f /YaleMed Pediatric Surgery lifelines announces arrival of new section chief One of the world’s leading In March, researchers in the cell biol- the School of ogy of the synapse, Pietro Medicine and De Camilli has catalogued Yale-New Haven and characterized a host of proteins involved in synaptic Children’s Hos- vesicle trafficking. Vesicles, pital (ynhch) which are crucial to brain announced the function, are spherical sacs appointment of shaped from nerve cell Michael Caty Michael G. Caty, membranes that are loaded with neurotransmitters. m.d., m.m.m., At synapses, vesicles fuse as chief of the Section of Pediatric with the membrane and Surgery and surgeon-in-chief empty their cargo to send at ynhch. a chemical message. Then Caty comes to Yale from the the membrane reshapes to form a new vesicle, and Women and Children’s Hospital of Pietro De Camilli michael marsland the cycle begins anew. Buffalo, where he was surgeon-in- chief, director of pediatric surgical services, and professor of surgery and pediatrics at the University at Buffalo School of Medicine and Cycle of life Biomedical Sciences. After three decades in carry neurotransmitters to synapses. sphere, which pinches off and migrates “Dr. Caty is a skilled surgeon, There they fuse with the synaptic mem- into the cell. This newly born vesicle researcher, and academician who basic science, a biologist brane and empty their cargo, passing is loaded with a neurotransmitter, brings more than two decades of circles back to medicine on to other cells the chemical messages and the secretory cycle begins anew. experience to his role as our new that allow the brain to function. “These processes are so fundamental pediatric surgeon-in-chief,” said The poet William Carlos Williams exalted De Camilli soon shifted his focus to that what you learn can be applied Robert Udelsman, m.d., m.b.a., the ordinary: “So much depends,” he neurobiology, and in 1978 he joined the to every cell,” says De Camilli, whose chair and William H. Carmalt Pro- wrote, “upon/a red wheel/barrow.” Seen Yale laboratory of Paul Greengard, ph.d., wide-ranging work on every step in this fessor of Surgery, and surgeon-in- from the vantage point of Pietro De who went on to win the Nobel Prize for progression has earned him election chief at Yale-New Haven Hospital. Camilli, m.d., the seemingly unremark- his studies of synaptic transmission. As to the National Academy of Sciences Caty is board certified in able fact that cell membranes can bend a cell biologist, De Camilli’s favored tool and appointment as a Howard Hughes pediatric and general surgery. His into different shapes is likewise invested was the microscope, and he needed time Medical Institute investigator. clinical interests include neonatal with the greatest importance, for life to adjust to Greengard’s biochemistry De Camilli’s career seems itself to surgery, thoracic surgery, intestinal itself—and every thought, emotion, and lab, in which “they studied the nervous be unfolding in a cycle. Mouse strains motility disorders, pediatric surgi- memory—depends upon it. system with a Waring blender,” isolating with defective vesicle trafficking that cal oncology, pediatric laparoscopy, As a child, De Camilli spent each proteins from homogeneous solutions were created in his lab to explore basic and minimally invasive thoracic year’s four-month school vacation in of brain tissue using chromatography. biology turned out to have character- surgery. He earned his b.s. at his mother’s ancestral village by Lake But in a “magic moment” De Camilli istics seen in various human diseases, Boston College and his m.d.

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