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31 October 2007
Ian Davis was recently honored with the inaugural Martin D. Abeloff, MD V Scholar Award
Ian Davis was honored by the V Foundation for Cancer Research, which bestows the Martin D. Abeloff, MD V Scholar Award award upon the investigator with the top-ranked scientific proposal. The award is the namesake of Dr. Abeloff, a highly respected director of the Sidney Kimmel Cancer Center at Johns Hopkins who died of leukemia in September.

31 October 2007
Mice lacking NKCC1 are protected from development of bacteremia and hypothermic sepsis secondary to bacterial pneumonia
The Koller lab studies suggest that NKCC1 plays a unique and unrecognized role in acute inflammatory responses in the lung and that specific inhibition of this NKCC isoform could be beneficial in treatment of sepsis.

31 October 2007
David Threadgill awarded grant to study Genetics and Co-Morbidity of Stress
David Threadgill has assembled a multidisciplinary group of scientists to exploit systems genetics to understand the biological consequences of chronic activation of the general stress responses. They will achieve their goals through development of an infrastructure on which to build the capabilities to support in silico predictions of complex mammalian biological systems. The work will center on the study of a combination stressors using a novel and highly innovative, genetically diverse reference population of mice called the Collaborative Cross (CC).


31 July 2007
Mary Sym

Fernando Pardo Manuel de Villena Elucidates the Origins of Laboratory Mouse
The Pardo-Manuel laboratory in collaboration with Gary Churchill’s group at The Jackson Laboratory recently published their work in Nature Genetics on analyzing the genetic variation found in 15 inbred mouse strains, which are widely used in the research community.  These 15 strains include 11 classical strains and 4 wild-derived strains that were resequenced by Perlegen Sciences under contract from the National Institute of Environmental Health Sciences (NIEHS) in 2004.  This resequencing project identified more than 109 million genotypes for 8.3 million single-nucleotide polymorphisms within these strains relative to the reference strain C57BL/6J.  A full description of this project along with a genome-wide haplotype map was published in Nature by the Perlegen/NIEHS group. Using these data, Pardo-Manuel and Churchill developed a high-resolution map of the subspecific origin of the laboratory mouse by generating 25,400 phylogenetic trees at 100-kb intervals throughout the genome.  Analysis of these data shows that the genomes of classical inbred strains are largely derived from the M. m. domesticus subspecies, but that the distribution of genetic variation is markedly nonrandom.  These results have significant implications for the design and interpretation of studies on complex traits and other areas of biomedical research for which the mouse has been used extensively as a model system for human disease.

Pardo-Manuel/Churchill article in Nature Genetics
Advanced online publication, July 29 “On the subspecific origin of the laboratory mouse.” Yang H, Bell TA, Churchill GA, and Pardo-Manuel de Villena F.

UNC press release
NIEHS press release

11 June 2007
Mary Sym

Jim Evans Recieves Investment for the Future Award
On May 10th, the School of Medicine announced an $8M investment in 13 initiatives focused on geriatrics, community outreach, the elimination of health disparities and the implementation of new technologies and methodologies--all with the greater goal of improving health of the citizens of North Carolina. Genetics/CCGS faculty member Jim Evans received one of these “Investments for the Future” awards for a total of $840,000 over three years.

Tremendous advances in genetics have been witnessed over the past decade and the pace of discovery and innovation is accelerating. However, practical application of these advances has lagged and the promise of genetics in the realm of patient care has remained largely unrealized. This gap between genetics and the broader reaches of clinical medicine exists in large part because of a failure to systematically identify clinical needs that could be addressed by existing genetic capacity, the inherent complexity of genomics and a general knowledge deficit among most clinicians regarding what genetics has to offer their patients and how to apply it. Dr. Evans’ proposal aims to close this gap through the creation of a vertically integrated clinical and laboratory infrastructure which will harness genomic advances to patient care, educate providers and make practical the broad delivery of genetic medicine. This is a highly collaborative effort, with important engagement by many departments. A major collaborator is Dr. Karen Weck, director of Molecular Genetics within the Department of Pathology.

Success in these efforts will accomplish several important goals. First, the application of existing genetic knowledge and technology in the clinical realm will improve the care of patients and their families. Second, close engagement of clinicians across a variety of specialties will result in a broad community of clinicians at UNC who are knowledgeable about genetic medicine and able to apply rapidly developing advances to patient care. Finally, with the creation of a broad and vibrant clinical genetics infrastructure, UNC will be well positioned to capitalize on the strong synergy between basic and clinical genetics.

16 May 2007
Frank Conlon receives the award of tenure
The UNC-Chapel Hill Board of Trustees approved the award of tenure for Assistant professor Frank Conlon.  The Promotion was effective April 1. Congratulations!


1 May 2007
Mary Sym
Terry Magnuson Elected to American Academy of Arts & Sciences
The American Academy of Arts and Sciences announced yesterday, April 30, the election of 203 new Fellows and 24 new Foreign Honorary Members including CCGS Director and Chair of Genetics, Dr. Terry Magnuson. Founded in 1780 by John Adams, James Bowdoin, John Hancock and other scholar-patriots, the Academy has elected as Fellows and Foreign Honorary Members the finest minds and most influential leaders from each generation. The current membership includes more than 170 Nobel laureates and 50 Pulitzer Prize winners.

American Academy of Arts & Sciences press release


1 May 2007
Mary Sym
Karen Mohkle's Search for Diabetes Gene Featured in One of Four Landmark Genome-Wide Association Studies
In the most comprehensive look at genetic risk factors for type 2 diabetes to date, a U.S.-Finnish team, working in close collaboration with two other groups, has identified at least four new genetic variants associated with increased risk of diabetes and confirmed existence of another six. The findings of the three groups, published simultaneously in the advanced online edition of the journal Science, and a fourth group, published in the advanced online edition of Nature Genetics, boost to at least 10 the number of genetic variants confidently associated with increased susceptibility to type 2 diabetes - a disease that affects more than 200 million people worldwide.

NHGRI press release
Science news article

1 March 2007
Mary Sym
Chuck Perou Promoted to Associate Professor
It’s official--Chuck Perou’s promotion to Associate Professor with tenure in the Department of Genetics has been formally approved by the University.  Dr. Perou was recruited to UNC in 2000 by the Department of Genetics and the Lineberger Comprehensive Cancer Center.  He has since proven to be an exceptionally talented independent investigator, and is a nationally recognized leader in his field of breast cancer genetics.

14 January 2007
Frank Conlon Receives American Heart Association National Established Investigator Award
Genetics faculty member Frank Conlon has been awarded the American Heart Association's National Established Investigator Award. The award was established to improve population and/or behavioral methods or develop novel methods to advance primary and/or secondary prevention goals of the American Heart Association and
improve the effectiveness of therapy, quality of care and systems of healthcare delivery goals of the American Heart Association.

More about Award



1 December 2006
Mary Sym
Chuck Perou Receives Jefferson-Pilot Award
Genetics faculty member Chuck Perou has been awarded the 2006 Jefferson-Pilot Fellowship in Academic Medicine. This fellowship is awarded each year by the UNC School of Medicine through a trust fund established by the Jefferson-Pilot Corporation. Recipients receive $20,000 over a four-year term to be used for scholarly endeavors at the recipient's discretion. The aim of the fellowship is to recognize and retain promising junior faculty at UNC who have demonstrated substantial academic productivity and scholarly achievement in advance of tenure.

Dr. Perou was recruited to UNC in 2000 by the Department of Genetics and the Lineberger Comprehensive Cancer Center. He has since proven to be an exceptionally talented independent investigator, and is an emerging leader in his field of breast cancer genetics. The main focus of the Perou lab is to characterize the biological diversity of human tumors using DNA microarrays, molecular genetics, and cell biology with the goal of better classifying tumors into subtypes of clinical relevance. The lab is currently identifying the signaling pathways that are activated within each subtype using proteomic and cell biological approaches. They are also interested in the cellular and molecular function of specific genes that either define each tumor subtype or are correlated with resistance to chemotherapy. Dr. Perou is a prolific collaborator who embraces an interdisciplinary approach to research, interacting closely with other geneticists, clinicians, epidemiologists, and statisticians to tackle a complex biomedical problem.


10 October 2006
Mary Sym
Pat Sullivan receives GAIN Genotyping Award
The Foundation for the National Institutes of Health today announced the first round of genotyping award recipients under the Genetic Association Information Network (GAIN), a public-private partnership to support large-scale genomic studies.  CCGS/Genetics professor Pat Sullivan received one of these awards to elucidate the genetic basis of major depression.

The GAIN project’s goal is to find the genetic causes of common diseases by conducting large-scale genomic studies and making the results of these studies publicly available.  Private donors have contributed around $26 million to the project so far. FNIH added that it expects to seek additional funds to support further genotyping studies under GAIN.

The first six studies under the project, chosen out of nearly three dozen applicants, are:  

  • “Collaborative Association Study of Psoriasis,” led by Goncalo Abecasis of the University of Michigan School of Public Health
  • “International Multi-Center ADHD Genetics Project,” led by Stephen Faraone of the Research Foundation of the State University of New York
  • “Genome-Wide Association Study of Schizophrenia,” led by Pablo Gejman of the Center for Psychiatric Genetics, Evanston Northwestern Healthcare Research Institute, and Feinberg School of Medicine at Northwestern University, Evanston
  • “Whole Genome Association Study of Bipolar Disorder,” led by John Rice Kelsoe of the University of California, San Diego, School of Medicine
  • “Major Depression: Stage 1 Genome-wide Association in Population-Based Samples,” led by Patrick Francis Sullivan of the University of North Carolina at Chapel Hill
  • “Search for Susceptibility Genes for Diabetic Nephropathy in Type 1 Diabetes,” led by James Heber Warram of the Joslin Diabetes Center.

GAIN will pay to genotype around 18,000 samples across the six diseases over the next four to eight months, using genotyping services provided by Perlegen Sciences (in partnership with Pfizer) and the Broad Institute (in partnership with Affymetrix). 

A portion of the $5 million provided by Pfizer will support development of a database to house GAIN data at the National Center for Biotechnology Information.

In addition to free genotyping, the six selected studies will receive additional grants from NIH to support analysis of the new genetic data. 

Additional information:

FNIH press release
GAIN press conference
GAIN website
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26 September 2006
2006 Retreat Award Winners
The following graduate students and post docs won awards for their research during the 2006 Genetics and Curriculum in Genetics and Molecular Biology Retreat

Sarah Graham Kenan/Edwards-Hobgood Fellowship Award

Folami Ideraabdullah (Pardo-Manuel Lab)
Nate Montgomery (Magnuson Lab)

Vashaw Award for Best Post Doc Poster
Jessica Nadler, PhD (Magnuson Lab)
Natalie Karpinich, PhD (Van Dyke Lab)

Best Graduate Student Poster Award
Michelle Leslie (Liljegren Lab)
Matt Ramsey (Sharpless Lab)

Vashaw Award for Best Post Doc Talk
Stormy Chamberlain, PhD (Magnuson Lab)

Best Graduate Student Talk Award
Kathleen Christine (Conlon Lab)
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29 August 2006

Terry Van Dyke receives Samuel Waxman Foundation Grant
Terry Van Dyke received a two-year grant from the Samuel Waxman Foundation to study "Pten-Regulated Pathways in Glioblastoma: Assessment of Targets in a Preclinical Model."

- Samuel Waxman Foundation
.......................................................................................................

29 August 06
Chuck Perou receives V Foundation Grant
Chuck Perou, Genetics Faculty member and member of the Lineberger Comprehensive Cancer Center and the Duke Comprehensive Cancer Center, received a $1 million four-year grant from the V Foundation to fund a collaborative research project to individualize treatment for breast cancer. The grant is given in honor of Jamie Valvano Howard, Jim Valvano's daughter, who was diagnosed with breast cancer in August 2005. Chuck Perou's Duke collaborator is Joe Nevins.
.......................................................................................................

2 August 06
Jim Evans to give 2006 Whitehead Lecture
Genetics department faculty member Jim Evans will give the 2006 Richard H. Whitehead Lecture on Wednesday, August 16. The lecture is scheduled for 12:30 p.m. in 2204 Medical Biomolecular Research Building.

The Whitehead Lecture was established in 1947 to recognize the high standards and leadership of Richard H. Whitehead, M.D. who served as Dean of the School of Medicine from 1890 to 1905. It has been an annual event since 1980.

The lecturer is chosen by the Whitehead Council, Whitehead Medical Society's governing body of elected officers. The selection is based on qualities of leadership, dedication, and devotion to medicine and teaching. A certificate is given in recognition of distinguished contribution to the science and art of medicine designating the recipient an Honorary Member of the Whitehead Society.
.......................................................................................................

26 June 2006
Karen Mohlke named 2006 Pew Scholar

Genetics department faculty member Karen Mohlke was among fifteen researchers that were awarded 2006 Pew Scholarships. The Pew Scholars Program in the Biomedical Sciences is designed to support young investigators of outstanding promise in the basic and clinical sciences relevant to the advancement of human health. The funding of the awards is provided by The Pew Charitable Trusts.

- Press Release
- Pew Scholars Program
.......................................................................................................

Mary Sym
David Threadgil to collaborate on Gentics of Toxicity
Through a newly funded project under the UNC Superfund Basic Research Program, Genetics faculty memer David Threadgill and Environmental Sciences & Engineering faculty member Ivan Rusyn will study the role of genetics on liver and kidney toxicity from exposure to tricholorethylene (TCE), a chemical found in many commonly used products. It is clear that genetics plays a significant role in the metabolism and health outcomes of individuals exposed to such environmental toxins, but determining exactly which genetic variations are linked to resistance or sensitivity has been difficult to identify. Even in genetically tractable models such as mice or rats, this type of research has traditionally relied on a single laboratory strain, which cannot reproduce the genetic diversity of responses that are known to exist in human populations. Taking advantage of new genome sequence information and advances in genomic tools, Drs. Threadgill and Rusyn plan to use a panel of 16 different inbred mouse strains for which genome sequence is now available, to tackle the issue of genetic diversity head-on. The team hopes to develop a new strategy for testing chemical safety that incorporates information about individual variation. They have already conducted similar studies using acetominophen (Tylenol) and alcohol, and have found tremendous variability in responses to these chemicals. Ultimately, it may be possible to analyze an individual's genotype and predict the impact of specific chemicals or drugs on his/her health. This information has the potential to influence both environmental policy and the practice of medicine.

UNC Superfund Basic Research Program website
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4 May 2006
Mary Sym

Fernando Pardo Manuel de Villena named investigator in New Genome Dynamics Center
NIH/NIGMS recently announced the funding of two new Systems Biology centers, bringing the total to seven centers whose long-term mission is "to develop new strategies and tools for studying the complexity of biological systems." CCGS faculty member Fernando Pardo Manuel de Villena is an investigator on one of these new centers, led by Gary Churchill at The Jackson Laboratory. Dr. Churchill's Genome Dynamics Center will receive about $15.1 million over 5 years to learn how patterns of genetic variation emerge and persist over time. By creating a collection of genetic information from a set of more than 200 inbred strains of mice, the research team will study expression patterns to identify co-expressed genes, examine how these patterns evolved, and investigate how the overall genome organization affects phenotype.

Dr. Pardo Manuel de Villena will be leading a genotyping effort to identify clusters of 4-5 markers of diverse evolutionary origin in 500 bp segments spaced at 100 kb intervals across the mouse genome. The resulting data will 1) provide considerably improved maps of linkage disequilibrium domains and networks, 2) provide insight into the evolutionary forces responsible for the assembly of these domains and networks, 3) improve the reliability/resolution of in silico QTL mapping, 4) identify and map historical recombination events and relate these to current maps of recombination hotspots, and 5) address several basic evolutionary questions for which the genus Mus is exceptionally well-suited.

NIGMS press release


22 December 2005
Mary Sym
Leslie Lange wins Roger R. Williams Memorial Award
Genetics assistant professor Leslie Lange will be the recipient of the 2006 Roger R. Williams Award for Genetic Epidemiology and the Prevention and Treatment of Atherosclerosis to be presented at the upcoming annual conference on cardiovascular disease epidemiology and prevention, sponsored by the American Heart Association. The award honors the work of Dr. Williams, a pioneer in the genetics of inherited lipid disorders and prevention of atherosclerosis. The winner of the award is selected among all conference abstracts submitted in the category of genetic epidemiology. Dr. Lange's abstract describes her recent work on identifying polymorphisms in the CRP (C-reactive protein) gene that are associated with elevated levels of circulating CRP and the incidence of cardiovascular events such as heart attacks and stroke. More broadly, Dr. Lange's long-term research interests lie in the genetic epidemiology of complex diseases such as cardiovascular disease, diabetes, cancer, and psychiatric disorders.


4 December 2005
Mary Sym
Jim Evans named Editor-in-Chief of Genetics in Medicine
Bryson Program in Human Genetics director and Genetics Faculty member Jim Evans recently accepted a position as editor-in-chief of Genetics in Medicine, the official journal of the American College of Medical Genetics. This peer-reviewed bimonthly journal is a forum for the presentation of innovative, practice-focused papers in contemporary medical genetics, including such areas as chromosome abnormalities, metabolic diseases, single-gene disorders, genetic susceptibility to complex diseases, genetic counseling, informatics and database development, genetics and the law, and all levels of education in human medical genetics. Evans has agreed to serve for a five-year term beginning in December 2006. Over the next year, the responsibilties will be gradually transferred to him from Richard King, the current editor-in-chief at the University of Minnesota.
Genetics in Medicine website
American College of Medical Genetics website

1 November 2005
David Threadgill writes commentary on metastatic potential as a heritable trait
Cancer metastasis has historically been viewed in the context of the mutational spectra arising during development of the primary cancer. The identification of a new modifier of cancer metastasis efficiency in mice provides experimental support for a predisposition model in which metastatic potential is viewed as a heritable trait influenced by host genetic polymorphisms.

Threadgill, D.W. (2005). Nature Genetics 37, 1026-1027.

1 November 2005
Terry Van Dyke comments in Nature on Cancer Biology
The gene encoding the p53 protein is mutated in more than 50% of human cancers, but quite how it is involved in tumour biology has eluded scientists for decades. Studies of genetically engineered p53 mutant proteins in mice, underscore the complexity of p53 cancer mechanisms, and provide a model for a human cancer-susceptibility syndrome.

Van Dyke, T. (2005). Nature 434, 287-288

17 October 2005
Jim Evans to present Seminar
Genetics faculty member Jim Evans will present "What's a Mother to Do?" on Monday, November 14 at Noon in the Morehead Planetarium and Science Center's NASA Digital Theater. The talk examines the ethical dilemmas associated with recent genetic advances and the impact these advances have on society.

4 October 2005
Fernando Pardo-Manuel de Villena publishes work on meiotic drive
The DDK syndrome is an early embryonic lethal phenotype observed in crosses between females of the DDK inbred mouse strain and many non-DDK males. Lethality results from an incompatibility between a maternal DDK factor and a non-DDK paternal gene, both of which have been mapped to the Ovum mutant (Om) locus on mouse chromosome 11. Fernando and colleagues define a 465 kb candidate interval for the paternal gene by recombinant progeny testing. To further refine the candidate interval they determined whether males from 17 classical and wild-derived inbred strains are interfertile with DDK females. They conclude that the incompatible paternal allele arose in the Mus musculus domesticus lineage and that incompatible strains should share a common haplotype spanning the paternal gene. They tested for association between paternal allele compatibility/incompatibility and 167 genetic variants located in the candidate interval. Two diallelic SNPs, located in the Schlafen gene cluster, are completely predictive of the polar-lethal phenotype. These SNPs also predict the compatible or incompatible status of males of five additional strains.

Bell TA, de la Casa-Esperon E, Doherty HE, Ideraabdullah F, Kim, K,

http://www.genetics.org/cgi/rapidpdf/genetics.105.047118v1

4 October 2005
Patrick Sullivan Appointed Foreign Adjunct Professor at Karolinska Institutet
Pat Sullivan was recently appointed Foreign Adjunct Professor of Genetic Epidemiology by the Karolinska Institutet in Stockholm, Sweden. The purpose of these appointments is to strengthen international collaboration and to foster long-term scientific exchange with researchers outside the institute. The period of appointment lasts for six years with a possibility of renewal. Sullivan has collaborated with faculty at Karolinska for the past six years to understand the etiology of a number of important health problems such as major depression, chronic fatigue syndrome, smoking behavior, and schizophrenia. A key resource in these studies is the Swedish Twin Registry, which is administered by the Karolinska Institutet. This is the largest twin registry in the world and has become an invaluable resource for the medical research community.


26 September 2005
Leslie Lange reports association of adipose tissue deposition using data from the IRAS family study
Adipose tissue distribution (visceral vs subcutaneous) has been shown to be an important predictor of insulin resistance, diabetes and cardiovascular disease, independent of body mass index. The beta-2 adrenergic receptor is a major lipolytic receptor in human fat cells and the gene that codes for this protein is an important candidate gene for measures of adiposity and fat deposition. Leslie and collaborators examined whether two common polymorphisms in codons 16 (Arg16Gly) and 27 (Gln27Glu) are associated with measures of fat distribution in participants of the IRAS Family Study. Their findings suggest that genetic variation in the beta-2 adrenergic receptor gene influences fat deposition and body size. In particular, these results support a role for the gene in the distribution of visceral adipose tissue but not subcutaneous adipose tissue.
Int J Obes (Lond). 2005 May;29(5):449-57.


26 September 2005
Karen Mohlke finds that mitochondrial polymorpohisms play a modest role in type 2 diabetes-related traits
Mitochondria play an integral role in ATP production in cells and are involved in glucose metabolism and insulin secretion, suggesting that variants in the mitochondrial genome may contribute to diabetes susceptibility. In a study of Finnish families ascertained for type 2 diabetes mellitus (T2DM), Mohlke and co-workers genotyped single nucleotide polymorphisms (SNPs) based on phylogenetic networks. These SNPs defined eight major haplogroups and subdivided groups H and U, which are common in Finns. They evaluated association with both diabetes disease status and up to 14 diabetes-related traits for 762 cases, 402 non-diabetic controls, and 465 offspring of genotyped females. Their data support previous evidence for association of T16189C with reduced ponderal index at birth and also show evidence for association with reduced birthweight but not with diabetes status. Given the multiple tests performed and the significance levels obtained, this study suggests that mitochondrial genome variants may play at most a modest role in glucose metabolism in the Finnish population. Furthermore, their data do not support a reported maternal inheritance pattern of T2DM.
Hum Genet. 2005 Sep 2;:1-10 [Epub ahead of print] PMID: 16142453

26 September 2005
UNC to host an international meeting on mouse resources
UNC will host the Federation of International Mouse Resource (FIMRe) centers in Bethesda early in October. The group includes members from North America, Europe, Japan and Australia. The goal of this group is to make sharing of mouse resources for biomedical research more effective by removing international barriers through standardization of operating procedures.

19 September 2005
Ethan Lange participates in a combined genomewide linkage scan for prostate cancer-susceptibility genes.

Xu et al.
Am J Hum Genet. 2005 Aug;77(2):219-29

Evidence of the existence of major prostate cancer (PC)-susceptibility genes has been provided by multiple segregation analyses. Although genomewide screens have been performed in over a dozen independent studies, few chromosomal regions have been consistently identified as regions of interest. One of the major difficulties is genetic heterogeneity, possibly due to multiple, incompletely penetrant PC-susceptibility genes. The prostate consortium explored two approaches to overcome this difficulty, in an analysis of a large number of families with PC. One approach was to combine linkage data from a total of 1,233 families to increase the statistical power for detecting linkage. Using parametric (dominant and recessive) and nonparametric analyses, we identified five regions with "suggestive" linkage (LOD score >1.86): 5q12, 8p21, 15q11, 17q21, and 22q12. The second approach was to focus on subsets of families that are more likely to segregate highly penetrant mutations, including families with large numbers of affected individuals or early age at diagnosis. Stronger evidence of linkage in several regions was identified, including a "significant" linkage at 22q12, with a LOD score of 3.57, and five suggestive linkages (1q25, 8q13, 13q14, 16p13, and 17q21) in 269 families with at least five affected members. In addition, four additional suggestive linkages (3p24, 5q35, 11q22, and Xq12) were found in 606 families with mean age at diagnosis of < or = 65 years. Although it is difficult to determine the true statistical significance of these findings, a conservative interpretation of these results would be that if major PC-susceptibility genes do exist, they are most likely located in the regions generating suggestive or significant linkage signals in this large study.


19 September 2005

The Koller lab determined that Prostaglandin E2 protects lower airways against broncoconstriction
Hartney JM et al. Am J Physiol Lung Cell Mol Physiol. 2005 Aug 19

Prostaglandin E2 (PGE2), similar to beta-adrenergic receptor agonists, can protect airways from bronchoconstriction and resulting increase in airway resistance induced by a number of agents including cholinergic receptor agonists and antigen. The Koller lab examines the impact of sustained alterations in PGE2 pathways on changes in airway resistance. Genetic methods were utilized to alter PGE2 metabolism and signal transduction in the murine lung. PGE2 levels were elevated by generating mice lacking 15-hydroxyprostaglandin (HPGD), the major catabolic enzyme of PGE2 and by generating a transgenic line, in which mouse PGE2 synthase (Ptges) expression is driven by a lung specific promoter, hSP-C. Conversely, to determine the impact of loss of PGE2 on airway reactivity, they examined mice lacking this synthase (Ptges-/-) and receptors which mediate the actions of PGE2, particularly the PGE2 EP2 receptor (Ptger2). Diminished capacity to produce and respond to PGE2 does not alter the response of mice to cholinergic stimuli. In contrast, the responsiveness to cholinergic stimulation is dramatically altered in animals with elevated PGE2 levels. The Hpgd(-/- )and hSP-C-Ptges transgenic lines both show attenuated airway responsiveness to methacholine as measured by lung resistance. Thus, while compromise of the Ptges/ PGE2/Ptger2 pathway does not alter airway responsiveness, genetic modulation that elevates PGE2 levels in the lung attenuates airway responsiveness.

8 September 2005
Rosann Farber publishes work focusing on the FMR1 gene and Fragile X
Most cases of fragile X syndrome result from expansion of CGG repeats in the FMR1 gene; deletions and point mutations of FMR1 are much less common. Mosaicism for an FMR1 full mutation with a deletion or with a normal allele has been reported in fragile X males. The Farber group reports on a fragile X female who is mosaic for an FMR1 full mutation and an intragenic deletion. Mosaicism of this type is rare in females with a fragile X mutation but should be kept in mind in the interpretation of Southern blots. Am. J. Med. Genetics 15, 214-217, 2005

8 September 2005

Mark Heise identifies mouse neurovirulence determinants of Sindbis virus strain
In an effort to further define the viral genetic elements that contribute to adult mouse neurovirulence, the neurovirulent Sindbis virus strain AR86 was compared to the closely related but avirulent Girdwood strain. Initial studies using chimeric viruses demonstrated that genetic elements within the nonstructural and structural coding regions contributed to AR86 neurovirulence. Detailed mapping studies identified three major determinants in the nonstructural region. Replacing these codons in AR86 with those found in Girdwood resulted in the attenuation of AR86, while the four corresponding AR86 changes in the Girdwood genetic background increased virulence to the level of wild-type AR86. The attenuating mutations did not adversely affect viral replication in vitro, and the attenuated viruses established infection in the brain and spinal cord as efficiently as the virulent viruses. However, the virus containing the four virulence determinants grew to higher levels in the spinal cord at late times postinfection, suggesting that the virus containing the four attenuating determinants either failed to spread or was cleared more efficiently than the wild-type virus. J Virol. 7:4219-28, 2005.

1 September 2005
Ned Sharpless writes commentary in Nature on cell senescence & malignant progression
Ned Sharpless and Ron DePinho comment on recent work indicating that cellular senescence stops the growth of cells. This process, first glimpsed in cell culture, is now confirmed by in vivo evidence as a vital mechanism that constrains the malignant progression of many tumors. See Nature 436, 636-637, 2005

1 September 2005
Bev Koller and David Threadgill receive the award of tenure
The UNC-Chapel Hill Board of Trustees approved the award of tenure for Associate Professor Bev Koller and the promotion from Assistant to Associate Professor with tenure for David Threadgill. The Promotions were effective August 1. Congratulations!

25 August 2005
Shawn Ahmed publishes Review on Immortality
[Abstract][Complete Article]



8 August 2005
Kathleen Caron receives Grant-in-aid from the American Heart Association
Genetics faculty member Kathleen Caron has received Grant-in-aid from the American Heart Association to study adrenomedullin signalin in lymphatic vascular development and function. [Abstract]


5 August 2005
Jim Evans Named one of The Best Doctors in America®
Genetics Faculty Member Jim Evans has been named one of The Best Doctors in America®
by Best Doctors, Inc.. [Press Release]

Event Infomation
Scientific Retreat at the Beach
The Department of Genetics and the Curriculum in Genetics and Molecular Biology will hold their annual retreats jointly at the Blockade Runner in Wrightsville Beach, NC September 16-18, 2005. The retreat will feature scientific talks from faculty and students and two posters sessions. [Retreat Website][GMB Website]


2 August 2005
Biology/Genetics Symposium Announced
The Departments of Biology and Genetics Symposium, "Broadening Connections in Life Sciences through Genetics and Genomics" will be held on Friday, December 2, 2005 at the Carolina Union Auditorium. Keynote speakers are Kathyrn Anderson, Professor and Chair of Developmental Biology at
Memorial Sloan-Kettering Cancer Center and David Page, Interim Director, Whitehead Institute, Professor of Biology and Investigator of the Howard Hughes Medical Institute at MIT.



22 July 2005
Frank Conlon Awarded Grant
Frank Conlon was awarded a new NIH grant entitled "A Genetic Approach to Organogenesis in Xenopus." Conlon's lab will be developing novel genetic approaches to study genes involved in cardiovascular disease. [Abstract] [Conlon Lab Homepage]

June 2005
Magnuson Lab Paper
Magnuson Lab paper on Eed protein published in May 24 issue of Current Biology ...[UNC Press Release]
[Paper Full Text]

October 2004

David Threadgill brings home the win
Faculty member David Threadgill recently won the 2004 Jefferson-Pilot Award for research... [full story]

October 2004
The Genetics of Sand
Pictorial look at the 2004 UNC/Duke Genetics Retreat in Wrightsville Beach, NC... [full story]

20 July 2004
Chalk Up Two More for the Home Team
Newly appointed faculty members Leslie and Ethan Lange bring a focus in statistical systems that Department Chair Terry Magnuson thinks is the next step for Genetics at UNC-CH... [full story]

20 July 2004
Jim Evans Sees How the Other Hemishere Lives

Dr. Jim Evans was the chief science advisor for an educational forum for high court justices of Chile, the host country for the UN Global Biotechnology Forum. Held in Concepción Chile in March of 2004... [full story]

 
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