Human Genetics News

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• Internationally Prominent Pioneer in Cancer Genetics to give 8th Annual James V. Neel Lecture
  
• U-M researchers release most detailed global study of genetic variation
  ANN ARBOR, Mich.—University of Michigan scientists and their colleagues at the National Institute on Aging have produced the largest and most detailed worldwide study of human genetic variation, a treasure trove offering new insights into early migrations out of Africa and across the globe.
  
  Like astronomers who build ever-larger telescopes to peer deeper into space, population geneticists like U-M's Noah Rosenberg are using the latest genetic tools to probe DNA molecules in unprecedented detail, uncovering new clues to humanity's origins.
  
  The latest study characterizes more than 500,000 DNA markers in the human genome and examines variations across 29 populations on five continents.
  
  "Our study is one of the first in a new wave of extremely high-resolution genome scans of population genetic variation," said Rosenberg, an assistant research professor at U-M's Life Sciences Institute and co-senior author of the study, to be published in the Feb. 21 edition of Nature.
  
  "Now that we have the technology to look at thousands, or even hundreds of thousands, of genetic markers, we can infer human population relationships and ancient migrations at a finer level of resolution than has previously been possible."
  
  The new study, led by Rosenberg and National Institute on Aging colleague Andrew Singleton, produced genetic data nearly 100 times more detailed than previous worldwide assessments of human populations. It shows that:
  
  • A recently discovered type of human genetic variation, known as a copy-number variant or CNV, is a reliable addition to the toolkit of population geneticists and should speed the discovery of disease-related genes. Rosenberg and his colleagues discovered 507 previously unknown CNVs, which are large chunks of DNA—up to 1,000,000 consecutive "letters" of the genetic alphabet—that are either repeated or deleted entirely from a person's genome. Various diseases can be triggered by an abnormal gain or loss in the number of gene copies.
  
  • It's sometimes possible to trace a person's ancestry to an individual population within a geographic region. While previous studies have found that broad-scale geographic ancestry could be successfully traced, the new results indicate "it's becoming increasingly possible to use genomics to refine the geographic position of an individual's ancestors with more and more precision," Rosenberg said.
  
  • Human genetic diversity decreases as distance from Africa—the cradle of humanity—increases. People of African descent are more genetically diverse than Middle Easterners, who are more diverse than Asians and Europeans. Native Americans possess the least-diverse genomes. As a result, searching for disease-causing genes should require the fewest number of genetic markers among Native Americans and the greatest number of markers among Africans.
  
  The results are being made available on publicly shared databases.
  
  "I hope the study will be an invaluable resource for understanding genomic variability and investigating genetic association with disease," said the NIA's Singleton.
  
  The researchers analyzed DNA from 485 people. They examined three types of genetic variation: single-nucleotide polymorphisms, or SNPs; haplotypes; and CNVs.
  
  If the human genome is viewed as a 3-billion-letter book of life, then SNPs represent single-letter spelling changes, haplotype variations equate to word changes, and CNVs are wholesale deletions or duplications of full pages.
  
  The patterns revealed by the new study support the idea that humans originated in Africa, then spread into the Middle East, followed by Europe and Asia, the Pacific Islands, and finally to the Americas.
  
  The results also bolster the notion of "serial founder effects," meaning that as people began migrating eastward from East Africa about 100,000 years ago, each successive wave of migrants carried a subset of the genetic variation held by previous groups.
  
  "Diversity has been eroded through the migration process," Rosenberg said.
  
  In addition to his position at the Life Sciences Institute, Rosenberg is an assistant professor of human genetics at the Medical School; an assistant professor of biostatistics at the School of Public Health; an assistant professor of ecology and evolutionary biology at the College of Literature, Science, and the Arts; and an assistant research professor of bioinformatics at the Medical School's Center for Computational Medicine and Biology.
  
  "This data set is so rich. It provides a much more comprehensive, cross-sectional snapshot of the human genome than previous studies," said Paul Scheet, a post-doctoral researcher in the U-M Department of Biostatistics and one of the lead authors.
  
  "The next step for these studies is to sequence whole genomes," said Mattias Jakobsson, a post-doctoral researcher at the U-M Center for Computational Medicine and Biology and another lead author. "You would take 500 individuals, and you would just completely sequence everything, and then you'd have almost every important variant that's out there."
  
  The work was supported in part by National Institutes of Health grants, the U-M Center for Genetics in Health and Medicine, the Alfred P. Sloan Foundation, the Burroughs Wellcome Fund, the National Center for Minority Health and Health Disparities, and the Intramural Program of the National Institute on Aging.
• Omenn recieves Human Proteome Organization 2007 Distinguished Service Award.
  Dr. Omenn was recently honored at the HUPO (Human Proteome Organization)
  6th World Congress as the recipient of the 2007 Distinguished Service
  Award. (see http://www.hupo.org/communications/HUPO_awards/)
  This very distinguished annual HUPO Award is the major award to recognize
  the dedicated service and contribution an individual has made to HUPO. It
  is intended to recognize the indispensable contributions made by exemplary
  members of the proteomic research community to the organization and mission
  of HUPO. Dr. Omenn was given a plaque and recognized with a ceremony at
  the 6th World Congress of HUPO, which took place October 6-11, in Seoul,
  Korea.
  
  At a symposium on Cancer Prevention - Translational Research from the Bench
  to Public Health, Dr. Omenn presented the M.D. Moross Lecture in Cancer
  Research. His presentation, Proteomics Strategies for Profiling Cancers and
  Planning Preventive Interventions, took place at the Weizmann Institute of
  Science in Rohovot, Israel on October 18, 2007. The symposium was sponsored
  by the Flight Attendant Medical Research Institute and the M.D. Moross
  Institute for Cancer Research. The symposium was organized by Zvi Livneh,
  of the Weizmann Institute of Science and Dean Brenner, of the University of
  Michigan. The M.D. Moross Institute for Cancer Research was established in
  1998 and made possible by the generous founding endowment of the Manfred D.
  Moross Foundation. In addition to being a successful businessman, Mr.
  Moross is an ardent and involved philanthropist.
• Friedhelm Hildebrandt is selected as one of 15 Patient-Oriented HHMI Investigators.
  October 11, 2007
  HHMI Adds 15 Patient-Oriented Researchers
  New Researchers Speed Translation of Basic Discoveries into Improved Treatments
  
  The Howard Hughes Medical Institute (HHMI) has selected 15 of the nation's top physician-scientists to be appointed as HHMI investigators in an initiative that underscores HHMI's commitment to ensuring that basic research discoveries are translated into improved treatments for patients. The Institute has committed approximately $150 million to their first term of appointment.
  
  
  “The impact of their research is already being felt by people suffering from malaria in Africa, by those with post-traumatic stress disorder in the United States, and by people worldwide with leukemia or lung cancer.”
  Thomas R. Cech
  
  “These 15 physician-scientists are changing the way we think about and treat a variety of diseases,” said HHMI President Thomas R. Cech. “The impact of their research is already being felt by people suffering from malaria in Africa, by those with post-traumatic stress disorder in the United States, and by people worldwide with leukemia or lung cancer. As a group, they have demonstrated extraordinary creativity and innovation.”
  
  The new HHMI investigators, who come from 13 institutions from across the country, were selected in a nationwide competition that sought applications from researchers who lead patient-oriented research programs and whose scientific work is guided by their interaction with patients. These physician-scientists spend their professional lives crossing the boundaries between the laboratory bench and the bedside, convinced that patient care informs and enhances their research.
  
  This competition differed from previous competitions for new HHMI investigators because eligible researchers with faculty appointments at 121 institutions were invited to apply directly to HHMI. Prior institutional approval was not part of the process, as it had been for previous HHMI investigator competitions where a researcher's host institution nominated the candidate. The Institute received 242 applications from eligible candidates, of which 15 were selected to become HHMI investigators. To evaluate the applications, HHMI assembled review panels consisting of distinguished physician-scientists and biomedical scientists.
  
  “We were pleased with the depth and breadth of candidates who applied in this competition,” said David A. Clayton, vice president for research operations at HHMI. “This was the first time that HHMI solicited applications directly from individual faculty at leading institutions and the outcome is an unqualified success.”
  
  In 2002, the Institute completed its first competition dedicated to selecting physician-scientists who conduct patient-oriented research. In that competition, 12 new HHMI investigators were selected from 138 nominees. HHMI physician-scientists selected in the 2002 competition have identified new drug targets, developed new therapeutic agents, and improved our understanding of the genetic bases of several diseases that affect humans.
  
  Despite the potential benefit that can come from nurturing the careers of physician-scientists, there is abundant anecdotal evidence that the number of physician-scientists pursuing careers in patient-oriented research is declining in the United States, said Cech. “We certainly don't have all the answers. But with the appointment of these new investigators — who will also serve as mentors for the next generation of patient-oriented researchers — and our early career awards to physician-scientists, we are sending a strong message that HHMI is committed to supporting the people who perform this vital work,” he said.
  
  In another program, HHMI announced earlier this year that it was expanding support for its Physician-Scientist Early Career Awards. In August 2007, the Institute selected 20 awardees and announced that it is investing $7.5 million to help ensure that promising physician-scientists have the resources they need to launch their careers. Each awardee is receiving $375,000 over a five-year period. When the Institute announced its first early-career awards in 2006, 13 physician-scientists received $150,000, awarded over a three-year period.
  
  Although some of the 291 current HHMI investigators are doing patient-oriented research, a large number of Hughes scientists focus on basic research directed toward understanding the genetic, molecular and cellular bases of human disease. Some of these projects can be generally characterized as being disease-oriented rather than patient-oriented, because the research does not require significant contact with patients.
  
  Applicants for the patient-oriented research competition were eligible to submit an application if they met the following requirements:
  
  
  Have an M.D. or M.D./Ph.D. degree or the equivalent
  Have a current license to practice medicine in the United States
  Be a tenured or tenure-track (or equivalent) faculty member at one of the 121 eligible host institutions on the date of submission of the application
  Have between four and 16 years of experience as an independent investigator
  Be engaged in the conduct of patient-oriented research
  Be the principal investigator on a funded NIH R01 grant or a project leader on a NIH P01 grant
  HHMI enters into long-term collaboration agreements with universities and other academic research organizations, where its investigators hold faculty appointments. Under these agreements, HHMI investigators, who are directly employed by the Institute, and their research teams carry out their research in HHMI laboratories located on various campuses. Through its flagship investigator program, HHMI has joined with more than 60 distinguished U.S. universities, hospitals, institutes, and medical schools to create an environment that provides flexible, long-term support for 291 Hughes scientists and members of their research teams.
  
  The Howard Hughes Medical Institute
  
  The Howard Hughes Medical Institute, a non-profit medical research organization that ranks as one of the nation's largest philanthropies, plays a powerful role in advancing biomedical research and science education in the United States. In the past two decades HHMI has made investments of more than $8.3 billion for the support, training, and education of the nation's most creative and promising scientists.
  
  HHMI's principal mission is conducting basic biomedical research, which it carries out in collaboration with more than 60 universities, medical centers and other research institutions throughout the United States. 291 HHMI investigators, along with a scientific staff of 2,200, work at these institutions in Hughes laboratories. The Institute's scientific research expenditures at the close of fiscal year 2007 totaled $613 million. HHMI grants totaled $86 million at the close of fiscal year 2007. The Institute's philanthropic grants program emphasizes initiatives with the power to transform graduate and undergraduate education in the life sciences. It also supports the work of biomedical researchers in many countries around the globe. Through aggregate investments of more than $1.2 billion, the Institute has sought to reinvigorate life science education at both research universities and liberal arts colleges and to engage the nation's leading scientists in teaching.
  
  At the end of its 2007 fiscal year, HHMI had an endowment of $18.7 billion. Its headquarters are located in Chevy Chase, Maryland, just outside Washington, D.C.
• Researchers find new gene linked to breast cancer.
  October 8, 2007
  
  Researchers find new gene linked to breast cancer
  
  Multicenter study suggests HMMR increases breast cancer risk
  
  HMMR interacts with BRCA1, suggesting new pathway for further research, study finds
  
  ANN ARBOR, MI – Researchers in a multicenter international study have identified a new gene that, if mutated, may increase a woman’s risk of breast cancer by more than a third.
  
  Further, the researchers found that the gene, HMMR, interacts with the well-known breast cancer gene BRCA1. Alternations in either gene cause genetic instability and interfere with cell division, which could be a path to breast cancer developing. This leads researchers to not just a single gene, but a pathway that may be a potential target for treating or detecting breast cancer.
  
  Results of the study appear in the advance online edition of Nature Genetics.
  
  HMMR is mutated in about 10 percent of the population. Mutations in the two main genes involved in breast cancer susceptibility, BRCA1 and BRCA2, occur in about one of every 300 individuals, or less than 1 percent of the population.
  
  “If we can identify variations of genes that are more common in the population that increase breast cancer risk, then targeting that gene for early detection or treatment will have a greater impact,” says Kristen Stevens, M.P.H., a doctoral student in epidemiology at the University of Michigan School of Public Health and one of the lead authors on the paper.
  
  The study was an international collaboration with researchers from Spain, Israel and several centers in the United States, including the U-M Comprehensive Cancer Center.
  
  Researchers started by developing a computerized network-modeling tool that allows many different types of existing scientific data sources to be analyzed easily to identify genes that impact cancer development. The researchers started with four genes already known to play a role in breast cancer – BRCA1, BRCA2, ATM and CHEK2. They were then able to see how each of these genes interacts with other genes in the body. Through this model, HMMR emerged as a key player in breast cancer. The authors then showed that alterations of either BRCA1 or HMMR can lead to genetic instability and interfere with cell division.
  
  “These findings made us wonder whether HMMR might also be a breast cancer susceptibility gene,” says study author Stephen Gruber, M.D., Ph.D., M.P.H., the H. Marvin Pollard Professor of Internal Medicine at the U-M Medical School. Gruber is an associate professor of internal medicine and of human genetics in the U-M Medical School, and of epidemiology in the U-M School of Public Health. He directs the Cancer Genetics program in the U-M Comprehensive Cancer Center, which focuses on inherited cancer risks.
  
  To understand whether variation in HMMR increases breast cancer risk, the researchers looked at the genes of 923 Jewish Israeli women with breast cancer and similar women without breast cancer in a study led by Gadi Rennert, M.D., director of the CHS National Cancer Control Center in Haifa, Israel. The Ashkenazi Jewish population in Israel carries a higher risk of breast cancer than other ethnicities.
  
  This component of the study found that women with a variation in the HMMR gene had a higher risk of breast cancer, even after accounting for mutations in the BRCA1 or BRCA2 genes. In particular, the risk of breast cancer in women under age 40 who carry the HMMR variation was 2.7 times the risk in women without this variation.
  
  The researchers further verified the finding in a second group of Ashkenazi Jewish women in New York who had a family history of breast cancer but no identified BRCA1 or BRCA2 mutations and a third study of Jewish women with and without breast cancer in New York. In total, 2,475 women with breast cancer and 1,918 healthy women were studied in Israel and New York.
  
  Overall, the risk of breast cancer was 23 percent higher in women who had one copy of genetic variant, and 46 percent higher in women who had inherited two copies. In addition, those women were diagnosed an average of 12 months younger than women from the control group, suggesting that HMMR is linked to early-onset breast cancer.
  
  “Identifying genes involved in cancer in the general population is important, because not all of the causes of breast cancer have been found. Through discoveries such as this, someday we might be able to more precisely estimate a person’s risk of cancer based on their genes,” says study author Laura Rozek, Ph.D., a postdoctoral research fellow at the U-M Medical School.
  
  More than 180,000 Americans will be diagnosed with breast cancer this year, and 40,900 will die from the disease, according to the American Cancer Society. For information about breast cancer treatment at U-M, visit www.mcancer.org or call the U-M Cancer AnswerLine at 800-865-1125.
  
  In addition to the U-M authors, study authors were Miguel Angel Pujana, Jing-Dong Han, Lea Starita, Muneesh Tewari, Jin Sook Ahn, Gad Rennert, Victor Moreno, Tomas Kirchhoff, Bert Gold, Volker Assmann, Wael ElShamy, Jean-Francois Rual, Doublas Levine, Rebecca Gelman, Kristin Gunsalus, Roger Greenberg, Bijan Sobhian, Nicolas Bertin, Kavitha Venkatesan, Nono Ayivi-Guedehoussou, Xavier Sole, Pilar Hernandez, Conxi Lazaro, Katherine Nathanson, Barbara Weber, Michael Cusick, David Hill, Kenneth Offit, David Livingston, Jeffrey Parvin and Marc Vidal.
  
  Funding for the study was from the National Cancer Institute, the National Institutes of Health, the Breast Cancer Research Foundation, the Niehaus, Southworth, Weissenbach Foundation, and the Koodish Foundation.
  
  Reference: Nature Genetics, doi:10.1038/ngxxxx
  Written by Nicole Fawcett
• Gene discovery aids understanding of common inherited neurological disorder.
  ANN ARBOR, Mich. — Scientists have identified the gene responsible for one type of Charcot-Marie-Tooth disorder, a common inherited neurological disease, thanks to the chance appearance of a strain of impaired “pale tremor” mice in a University of Michigan research laboratory.
  
  The discovery of the gene mutation means a genetic test will be possible for people with a less common subtype of the disorder -- one that until now was unidentified and had an unknown genetic basis, says Miriam Meisler, Ph.D., senior author of the study. This work now appears online ahead of print in the journal Nature.
  
  Charcot-Marie-Tooth disorder, one of the most prevalent inherited neurological disorders, affects one in 2,500 people in the United States, usually beginning in youth or by mid-adulthood. It is actually a group of related disorders that affect the body’s peripheral nerves, with symptoms such as pain and.muscle weakness in the feet and legs that lead to foot deformities, tripping and difficulty walking.
  
  The gene abnormalities responsible for 70 percent of cases are already known. Those patients and their families can choose to have genetic tests, which may be used to guide treatment or help family members find out if they are at risk.
  
  But the remaining 30 percent of patients, who have different variants of the disease, have not had that option. Meisler, a professor of human genetics at the U-M Medical School, predicts the new discovery will quickly lead to a test that can diagnose which of those patients have the newly identified gene mutation. These probably represent about 5 percent of the unexplained 30 percent of cases, preliminary testing suggests.
  With genetic knowledge, “Family members can make decisions about reproduction,” Meisler says of the discovery’s implications. “It also opens up directions for developing therapies. Now pharmacologists and drug developers can target this gene.”
  
  The genetic sleuthing that led to the discovery began when scientists in Meisler’s genetics lab noticed that some mice of a common laboratory type gave birth to offspring with a strange, wobbly gait and light coat color. The offspring quickly developed signs of severe central nervous system degeneration and peripheral neuropathy and died. The team named the strain “pale tremor” mice for their lack of normal pigment and the severe trembling they developed soon after birth.
  
  What could explain the mice’s debilitating symptoms? And could that knowledge be relevant in people with neurological diseases? Clement Y. Chow, the study’s lead author and a U-M Ph.D. student in human genetics, pursued answers.
  
  Chow was able to identify the gene involved, called FIG4, and find the mutation responsible for the symptoms in less than three years. That’s a third of the time it might have taken two decades ago, in part because of valuable data from the Human Genome Project, Meisler says.
  
  Meisler’s research team, which included scientists at the U-M Life Sciences Institute, found that the mutation caused a signaling molecule, called PI(3,5)P2, to be under-produced in both yeast and mice cells. This little-studied signaling molecule was known to be present in yeast cells but has not been well studied in mammals.
  
  The researchers also identified how the loss of normal FIG4 gene function results in disease in the pale tremor mice: Large fluid-filled chambers called vacuoles crowd the nerve cells and disrupt cell processes.
  
  “In mice, the peripheral nervous system was most affected. So we decided to ask whether human patients with peripheral neuropathic disease had the same mutation,” says Meisler.
  
  The researchers tested 95 patients with Charcot-Marie-Tooth disorder of unknown cause. In four patients, they found mutations of FIG4, the same gene implicated in the diseased mice. The finding has resulted in a newly identified form of the disease called CMT4J.
  
  In the phase of the research involving human patients, the multidisciplinary team of U-M scientists collaborated with scientists at Wayne State University and Baylor College of Medicine in Houston.
  
  The study also produced other intriguing findings:
  
  • The signaling function governed by the FIG4 gene, common to yeast, mice and humans, is what geneticists call a “conserved function,” persisting since very early in evolution.
  
  • The pale tremor mouse will be useful as a laboratory animal model in further research on Charcot-Marie-Tooth disorder as well as other conditions involving neuropathy. Meisler’s lab plans to use the mice in studies to find out why their neurons deteriorate so rapidly.
  
  In addition to Meisler and Chow, U-M contributors to the study include: Yanling Zhang, Natsuko Jin and Lois Weisman, Ph.D., of the Life Sciences Institute; James Dowling, M.D. Ph.D. of the Department of Neurology; and Maja Adamska of the Department of Human Genetics. The research was funded by the National Institutes of Health.
  
  Patent protection has been applied for. The University of Michigan, through its Office of Technology Transfer, is looking for licensing partners to help bring the technology to market.
  
  Journal Citation: “Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J,”Nature on-line, June 17, 2007, doi:10.1038/nature05876
  
  Note to patients and their families: Although this research is promising, the test for the CMT4J mutation is not yet available for routine use in humans.
  
  For more information on Charcot-Marie-Tooth disorder, visit http://www.ninds.nih.gov/disorders/charcot_marie_tooth/
  http://www.charcot-marie-tooth.org
  
• Endocrine Society honors Camper.
  Sally A. Camper, Ph.D., chair of the Human Genetics Department and professor in the Department of Internal Medicine at the U-M Medical School, received the 2007 Roy O. Greep Award from the Endocrine Society for outstanding contributions to research in endocrinology. As winner of the award, Camper, who is the U-M James V. Neel Professor of Human Genetics, presented the plenary lecture at the Endocrine Society's annual meeting June 3 entitled, "Pituitary Development & Disease: Roles of Transcription Factors & Signaling Pathways."
  
  The award also included a $1,000 honorarium. Camper described in her lecture how studies in genetically engineered and mutant mice have brought valuable insights into the common problems of pituitary hormone deficiency and pituitary adenomas in people.
  
  The Endocrine Society is an international body with 13,000 members from over 85 countries. It publishes four major peer-reviewed journals about endocrinology and metabolism and hosts scientific meetings to focus on new developments in endocrinology.
• Ginsburg elected member of National Academy of Sciences.
  ANN ARBOR, Mich.—The National Academy of Sciences announced the election of two University of Michigan professors: Dr. David Ginsburg and James S. House.
  
  Ginsburg is a Life Sciences Institute research professor and the James V. Neel Distinguished University Professor in the Medical School; House is the Angus Campbell Collegiate Professor of Sociology and Survey Research and a research professor in the Institute for Social Research.
  
  Election to the academy is considered one of the highest honors bestowed upon scientists, in recognition of distinguished and continuing achievements in original research.
  
  Since joining the U-M faculty in 1985, Ginsburg's career has been distinguished in both medical practice and basic genetics research. He is the former chief of medical genetics in the Department of Internal Medicine, a past-president of the American Society for Clinical Investigation and a member of the Institute of Medicine of the National Academy of Sciences, and the American Academy of Arts and Sciences. Ginsburg also holds an appointment as an investigator in the Howard Hughes Medical Institute.
  
  Ginsburg's ground-breaking work in the field of medical genetics has generated a body of novel insights into the molecular mechanisms underlying life-threatening bleeding disorders. In addition to his election, Ginsburg is also the recipient of several prestigious research awards, including the ASCI Award and the Basic Research Prize of the American Heart Association, among many others. Based on his important discoveries, a series of new diagnostic tools and therapeutic stratagems are under development for clinical use.
  
  House joined the U-M faculty in 1978. An internationally recognized expert on the complex ways in which psychosocial and economic factors affect stress and health, House is also affiliated with the U-M School of Public Health Department of Epidemiology and the U-M Institute of Gerontology. House has been elected to the American Academy of Arts and Sciences and the Institute of Medicine.
  
  His long body of distinguished social science research includes work on how social relationships influence health, how work and retirement affect health and well-being in older age, and how marital quality changes through the life course. House has also conducted research showing how volunteering is related to mortality among older adults, how urban living affects mortality, and how socioeconomic disparities in health change over time. His research has been funded by the National Institutes on Health and the Robert Wood Johnson Foundation.
  
  The election of 72 new members inducted for 2007 was held this morning during the business session of the 144th annual meeting of the academy. Those elected today bring the total number of active members to 2,025, including LSI professor Rowena Matthews.
  
  The National Academy of Sciences is a private organization of scientists and engineers dedicated to the furtherance of science and its use for the general welfare. It was established in 1863 by a congressional act of incorporation that calls on the Academy to act as an official adviser to the federal government in matters of science or technology.
  
  Additional information about the academy and its members is available online at http://www.nasonline.org.
• Nobel-winning pioneer in understanding cholesterol to give annual James V. Neel lecture at U-M
  ANN ARBOR, MI – Joseph L. Goldstein, M.D., a noted molecular genetics pioneer at the University of Texas Southwestern Medical Center whose discoveries two decades ago laid the groundwork for the development of statin drugs to lower cholesterol and prevent heart attacks, will give the seventh annual James V. Neel Lecture at the University of Michigan on Thursday, May 17 at 3 p.m.
  
  The talk, sponsored by the U-M Department of Human Genetics, takes place at the Biomedical Science Research Building Auditorium, located at 109 Zina Pitcher Place on the University of Michigan medical campus. A reception and poster session will follow the lecture. For information, call 734-764-5491.
  
  The annual event honors James V. Neel, M.D., Ph.D., who founded the nation’s first human genetics department at U-M in 1956. Neel was among the first to foresee the role of genetics in the diagnosis and treatment of medical conditions. Goldstein continues to explore that role today.
  
  “Dr. Goldstein is one of America’s most prominent cardiovascular scientists,” says Kim Eagle, M.D., a director of the U-M Cardiovascular Center.
  
  U-M Medical School Chief of Cardiovascular Medicine David Pinsky, M.D., also a director of the Cardiovascular Center, calls Goldstein “one of the great scientific-medical thinkers of our time who has made a difference.”
  
  Goldstein and his longtime collaborator Michael S. Brown won a 1985 Nobel Prize for discovering a key protein on cell surfaces, the LDL receptor, that regulates how cholesterol is taken up in cells. Their work sparked a new understanding of heart disease and paved the way for drugs to treat it.
  
  At the University of Texas Southwestern Medical Center, the two men continue to collaborate in laboratory research on a group of gene-activating proteins key to the normal process of lipid synthesis, work that sheds light on several diseases ranging from heart disease to obesity to diabetes. Goldstein’s U-M talk, “The SREBP Pathway: From Cholesterol Homeostasis in Cells to Neural Crest Defects in Embryos,” will explore aspects of his current research.
  
  Goldstein is a past president of the American Society for Clinical Investigation and was a member of the Governing Council of the U.S. National Academy of Sciences. He also chaired the Howard Hughes Medical Institute’s Medical Advisory Board and the Lasker Awards jury.
  
  Goldstein is an outstanding figure in the dwindling ranks of physician-scientists who both see patients and conduct basic laboratory research that focuses on discoveries and treatments relevant to real diseases, says Pinsky. “It is important to have role models such as Dr. Goldstein to inspire the next generation of physician scientists.”
• One small snip from man; one giant leap for the genome
  ANN ARBOR, Mich.—Snips of DNA of only 270 people from just four world locations provide a reliable map of genetic disease variations in the human genome for nearly all populations around the world.
  
  U-M scientists evaluated the worldwide coverage of a database of genetic markers and variations spread across the genome, called the HapMap, which was released one year ago by an international research consortium.
  
  That team had identified about 4.5 million single-letter differences in DNA, called single nucleotide polymorphisms or SNPs (say Snips) from the genomes of the Yoruba people in Nigeria, Chinese from Beijing, Japanese from Tokyo, and a group of European Americans. Each population's particular collection of SNPs is called a haplotype, which is what the name HapMap refers to.
  
  The HapMap database of genetic markers allows researchers to select markers that will be useful to their studies and also to develop a standard set of markers to be used in studies of many diseases. However, until now, the extent to which the genetic variants in the HapMap database represented the rest of the world's populations had not been studied.
  
  "The variants in the HapMap provide a good set of markers to use to test for diseases such as diabetes in most human populations," said study author Noah Rosenberg, assistant professor in the Life Sciences Institute, the Bioinformatics Program and the department of Human Genetics at the U-M Medical School.
  
  Rosenberg's U-M group studies genetic variation across populations and wanted to find the extent to which the genetic variants in the HapMap would apply to populations that were not part of that project. His team collected data from 927 individuals in 52 different world populations and measured the proportion of variants in these populations that were already contained in the HapMap.
  
  "Initially we expected that there would be many parts of the world where the coverage by the HapMap was inadequate," Rosenberg said. "Instead, what we found was that the variation in the HapMap does a reasonable job of capturing the genetic variation in nearly all populations."
  
  Therefore, researchers like Rosenberg who study disease variants in populations will be able to use the HapMap to test genetic markers spread out across the genome to investigate any differences related to that disease. Rosenberg has previously shown that the geographic distribution of haplotypes strongly reflects human history, with a loss of diversity as distance increases from the human species' ancestral range in Africa. In fact, this history explains part of the current finding.
  
  "Except in some parts of Africa, where haplotypes are older and more distinctive, human populations have diverged recently enough that their haplotypes are fairly similar," Rosenberg said.
  
  "These variations are of interest not only for the study of human history but also for disease-related studies," said Rosenberg. "That we can use the history of human evolution in the search for disease genes turns out to be a very powerful idea."
  
  The paper "A worldwide survey of haplotype variation and linkage disequilibrium in the human genome" was published in the advance online version on the Nature Genetics website on October 22, 2006.
• New U-M Center for Genetics in Health and Medicine will help bridge the gap between science and medicine
  ANN ARBOR, MI – One day in the not-so-distant future, a DNA test will be as much a part of an ordinary doctor’s visit as a blood pressure check. By scanning each patient’s unique genetic code, doctors will be able to predict which patients are most likely to develop a specific disease and select the most effective therapy for each patient.
  
  Research advances in genetics have the potential to transform the practice of medicine. But to achieve that potential, laboratory scientists and clinical researchers must work together to make the difficult transition from scientific discovery to clinical practice.
  
  To facilitate that transition, the U-M Medical School has created the Center for Genetics in Health and Medicine (CGHM). Funded with an initial $2.5 million grant from the U-M Medical School, the center’s overall mission is to enhance scientific interaction among U-M scientists and clinicians conducting genetics-related research in many different fields.
  
  “Collaboration is the key to the future of genetic medicine, but our researchers are scattered in separate departments throughout the Medical School and across the University,” says Allen S. Lichter, M.D., Dean of the University of Michigan Medical School. “This center will bring U-M clinicians and scientists together to focus on complex interdisciplinary research questions. It will provide specialized core laboratory facilities and the expertise required for advanced genetics research. In addition, the center will help train the next generation of physicians and scientists.”
  
  “Just five years after the draft sequence of the human genome was published, genetics is beginning to permeate all fields of medicine,” says Sally A. Camper, Ph.D., the James V. Neel Collegiate Professor of Human Genetics and chair of the U-M Department of Human Genetics.
  
  “The ‘genomics era’ presents us with a remarkable opportunity to improve diagnosis, prevention and treatment of human genetic diseases and to identify the risk factors for common, complex diseases – such as diabetes, cardiovascular disease and cancer – which have both genetic and environmental components,” Camper says.
  
  The link between genetics and medicine is fitting given the long and distinguished history of human genetics research in the U-M Medical School, according to Camper.
  
  “The center will help us continue the legacy of James Neel, Lee Dice and other U-M visionaries who developed the field of human genetics and understood its seminal importance to medicine,” she says.
  
  In 1956, Neel created the U-M Department of Human Genetics – the first academic department devoted to genetics at any medical school in the United States. Dice opened the first Hereditary Disease Clinic at U-M in 1941. Since then, many of today’s most prominent geneticists and physician-scientists have received their graduate or post-doctoral training at U-M.
  
  One of Camper’s immediate goals for the Center for Genetics in Health and Medicine is to nurture promising graduate students, research fellows, medical students and genetic counseling students who are preparing for careers in medical genetics by providing new interdisciplinary educational programs and financial support.
  
  “We just awarded our first CGHM fellowships to two outstanding post-doctoral research fellows,” Camper says. “And we hope to expand the fellowship program in the future.”
  
  The first recipient of a one-year fellowship from the genetics research center was Mathilde Malapel-Body, Ph.D., a research fellow in pathology who will study the link between Crohn’s disease and genetic variation in a gene called NOD2. Malapel-Body will work with Gabriel Nunez, M.D., the Paul De Kruif Professor of Academic Pathology, in the U-M’s Comprehensive Cancer Center.
  
  The second individual to receive a fellowship was Hee Chui Lee, Ph.D., a research fellow in geriatric medicine. Working with Ao-Lin Hsu, Ph.D. a professor of internal medicine, Lee will study genes that extend the lifespan of a worm called C. elegans.
  
  Camper says the new research center will have a core group of 30 to 40 U-M researchers from clinical and basic science departments across the University, and a larger group of affiliate members. She also plans to recruit four to six additional investigators, all of whom will have joint appointments in genetics and clinical medicine. Camper will serve as interim director of the new center until a permanent director is hired.
  
  Another immediate goal is to provide core laboratory support services and state-of-the-art technical facilities for use by researchers in the Medical School and across the University.
  
  A Family Studies Core Facility, staffed by genetic counselors and administrative staff, will be developed to assist investigators with clinical research. Staff will identify and recruit families and individuals who are interested in participating in research, obtain informed consent and medical histories, and collect blood or tissue samples for genetic analysis.
  
  A Genetic Analysis Core Laboratory will provide shared access to the expensive, high-tech equipment required to rapidly sequence and genotype blood and tissue samples for use in scientific and clinical research studies.
  
  An internal faculty steering committee has been appointed to develop and implement plans for the Center for Genetics in Health and Medicine. The committee includes Goncalo Abecasis, D. Phil., associate professor of biostatistics; Thomas M. Glaser, M.D., associate professor of human genetics and internal medicine; Stephen B. Gruber, M.D., Ph.D., associate professor of internal medicine, human genetics and epidemiology; Marci M. Lesperance, M.D., associate professor of otolaryngology; Donna M. Martin, M.D., Ph.D., assistant professor of human genetics and pediatrics and communicable diseases; Miriam Meisler, Ph.D., professor of human genetics; Richard R. Neubig, M.D., Ph.D., professor of pharmacology and associate professor of internal medicine; Elizabeth M. Petty, M.D., associate professor of human genetics and internal medicine; Julia E. Richards, Ph.D., associate professor of ophthalmology and visual sciences and epidemiology; Wendy R. Uhlmann, M.S., genetic counselor in internal medicine; Jeffrey S. Warren, M.D., professor of pathology; and Beverly Yashar, Ph.D., assistant professor of human genetics.