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Research at NHGRI News and Events Archive

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Past News and Events Highlights

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2010 - 2014

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bullet Numerous mutations in the human A-type lamin gene (LMNA) cause the premature aging disease, progeria. Some of these are located in the ?-helical central rod domain required for the polymerization of the nuclear lamins into higher order structures. Patient cells with a mutation in this domain, 433G>A (E145K) show severely lobulated nuclei, a separation of the A- and B-type lamins, alterations in pericentric heterochromatin, abnormally clustered centromeres, and mislocalized telomeres. The induction of lobulations and the clustering of centromeres originate during postmitotic nuclear assembly in daughter cells and this early G1 configuration of chromosomes is retained throughout interphase. In vitro analyses of E145K-lamin A show severe defects in the assembly of protofilaments into higher order lamin structures. The results show that this central rod domain mutation affects nuclear architecture in a fashion distinctly different from the changes found in the most common form of progeria caused by the expression of LA50/ progerin. The study also emphasizes the importance of lamins in nuclear assembly and chromatin organization. A progeria mutation reveals functions for lamin A in nuclear assembly, architecture, and chromosome organization [Full Text PDF file]
bullet National Institutes of Health researchers, including members of the NIH Chemical Genomics Center, performed high-throughput chemical genomic screening to identify new leads for antimalarial drugs. A study published in the September 6, 2009 advance online edition of Nature Chemical Biology demonstrates the utility of the chemical genomics approach to studying malaria traits. [Full Text PDF file]
bullet The agent currently used to detect recurrence of thyroid cancer is difficult to produce and must be injected. Researchers at the National Institutes of Health and colleagues in Germany have found a promising alternative that is easy to produce and can be injected or given orally, at least in mice. Co-authors of the paper included Christopher P. Austin, M.D., and James Inglese, Ph.D., from the NIH Chemical Genomics Center, administered by NHGRI. The research was published online (before print) on July 10, 2009 in the Proceedings of the National Academy of Sciences. [ Full Text PDF file]
bullet National Institutes of Health researchers sequenced microbial DNA on healthy individuals to advance new and better strategies for treating and preventing skin diseases. A study published in the May 29, 2009 issue of the journal Science reveals that our skin is home to a much wider array of bacteria than previously thought. [ Full Text]
bullet Fulfilling the Promise of a Sequenced Human Genome
NHGRI Scientific Director Eric Green, M.D., Ph.D., delivers the keynote address at the fourth annual Sequencing, Finishing and Analysis in the Future conference held May 27 in Santa Fe, N.M. Dr. Green, also director of the NIH Intramural Sequencing Center, describes the advances in high-throughput genomic sequencing that are revolutionizing science and medicine.
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bullet Research supported in part by NHGRI provides the strongest genomic evidence to date that more males than females participated in the human dispersal out of Africa 60,000 to 100,000 years ago. The finding is based on analysis of very large DNA data sets collected from four geographically diverse populations and compared patterns of genetic variation between the sex chromosome X and the non-sex chromosomes (autosomes). The analysis detected accelerated genetic drift beyond what would be expected on the X chromosome relative to the autosomes. Genetic drift is the tendency over many generations for a chance mutation to become a more common variation within the genome of a species. The significant difference in variation led the authors to conclude that a disproportionately larger number of males than females migrated out of the African continent to establish the founding population which later split into the European and Asian populations. James Mullikin, Ph.D., associate investigator, Genome Technology Branch, NHGRI, co-authored the paper with colleagues at the Harvard Medical School and the Broad Institute of Harvard and MIT. "We can now get a better glimpse of the migration patterns during in the African dispersion event(s)," he said, noting that his role included preparing the large datasets while maintaining the fidelity of the underlying signals for the analysis to pick up on these historic events. Accelerated genetic drift on chromosome X during the human dispersal out of Africa is published in the December 21, 2008 advance online issue of the journal Nature Genetics. [Full Text PDF file]
bullet In a study published Dec. 5, 2008 in PLoS Genetics, a research team led by Kyungjae Myung, Ph.D., proposed a new molecular pathway for gross chromosomal rearrangements, which are frequently observed in many cancers. They observed gross chromosomal rearrangement in cells with high expression of a specific oncogene, providing a mechanistic bridge between transcription and genomic instability. Spt2p Defines a New Transcription-Dependent Gross Chromosomal Rearrangement Pathway. [Full Text] PLoS Genetics, Dec. 5, 2008.
bullet Three papers in the Dec. 07, 2008 advance online edition of Nature Genetics include co-authors from NHGRI's Genome Technology Branch.
  • One study examined genetic variants and cholesterol levels in more than 40,000 individuals, and locating 30 genetic variants associated with cholesterol levels, including 11 new ones. Several of the newly implicated genetic variants were also related to risk of gallstones and certain rare forms of diabetes. Lori L. Bonnycastle, Kari A. Kubalanza, Mario A. Morken, Amy J. Swift and Francis S. Collins, and a large group of international collaborators were among the co-authors. Support for the research includes intramural funding and extramural grants from NHGRI. Common variants at 30 loci contribute to polygenic dyslipidemia [Full TextPDF file]

    A study that looked at the genomes of 36,000 individuals identified genetic changes in the melatonin receptor gene that are strongly associated with a small increase in glucose levels in non-diabetic individuals. The same changes increased the risk of developing diabetes by up to 20 percent. Michael R. Erdos, Lori L. Bonnycastle, Francis S. Collins and a large group of international collaborators were among the co-authors. Support for the research includes intramural funding and extramural grants from NHGRIVariants in MTNR1B influence fasting glucose levels [Full TextPDF file]

    The third study accompanies the findings regarding changes in the melatonin receptor gene and impaired insulin secretion. Co-authors included Michael R. Erdos. Funding for the work included support from the NHGRI intramural program. Common variant in MTNR1B associated with increased risk of type 2 diabetes and impaired early insulin secretion [Full TextPDF file]

bullet NHGRI's James C. Mullikin, Ph.D., Genome Technology Branch, and Fabio Candotti, M.D. and Karen L. Simon-Stoos, both of the Genetic and Molecular Biology Branch, are co-authors of a study that identified a previously unknown mechanism involved in regulation of hematopoietic cell differentiation in one of the most severe human immunodeficiency syndromes. Dr. Mullikin and colleagues at the NIH Intramural Sequencing Center discovered the first mutations in the adenylate kinase 2 (AK2) gene in several patients. Dr. Candotti's group performed the fine mapping of some of those mutations, and found new ones in other patients. The disease combines maturation arrest in the myeloid lineage and global impairment of lymphoid maturation. In addition, affected patients have deafness. Knowing the gene responsible opens the way to learning more about the steps needed for the correct development of the development of the lymphoid and myeloid systems, as well as that of the ear. It also provides a tool for specific early and possibly prenatal molecular diagnosis. Human adenylate kinase 2 deficiency causes a profound haematopoietic defect associated with sensorineural deafness is in the Nov. 30, 2008 online issue of Nature Genetics. [Full TextPDF file]
bullet NHGRI's Vence L. Bonham, J.D. and Erin M. Ramos, Ph.D., M.P.H. are authors of a commentary on a study that alerts the Canadian biomedical community of disparities in the health of an African Canadian group, suggesting that the findings may guide new health interventions to improve the health of racial and ethnic minorities in North America. The commentary titled, Unravelling the contribuions of social, environmental and genetic factors to health differences, is in the September 23, 2008 issue of the Canadian Medical Association Journal. [Full Text]
bullet NHGRI's Dr. Benjamin Feldman and colleagues describe a method for viably isolating embryonic cells in zebrafish, which opens up numerous experimental possibilities for developmental biologists. The article, Transcriptional profiling of endogenous germ layer precursor cells identifies dusp4 as an essential gene in zebrafish endoderm specification, is in the August 26, 2008 issue of the Proceedings of the National Academy of Sciences. [Full Text]
bullet In an article in the August 26, 2008 issue of the Proceedings of the National Academy of Sciences, NHGRI's Dr. Kyungjae Myung and colleagues report on the role of the genes HLTF and SHPRH in maintaining genomic stability in human cells. Polyubiquitination of proliferating cell nuclear antigen by HLTF and SHPRH prevents genomic instability from stalled replication forks. [Full Text]
bullet Elaine Ostrander, Ph.D., chief and senior investigator, Cancer Genetics Branch, NHGRI, has carved out a research niche with her study of dog genetics and human cancer. Dr. Ostrander is the subject of an inspiring profile in the August 2008 issue of The Scientist titled, Going to the Dogs. [Full Text] The Scientist, August 2008
bullet In a commentary published in the August 2008 issue of Nature Genetics, Colleen McBride, Ph.D., chief and senior investigator, Social and Behavioral Research Branch, and colleagues, discuss the urgent need for a multifaceted research agenda to reap the full benefits and avoid the potential pitfalls of personalized genomics. While a number of companies are now marketing genetically based risk profiles directly to consumers for a range of common diseases, the clinical utility of this information - and its impact on the behavior of those receiving it - is poorly understood. The authors outline the range of questions that need to be answered to better understand the implications of personalized genomics and discuss the early phase of an ongoing research project, the Multiplex Initiative. [Full TextPDF file] Nature, July 29, 2008
bullet In a study published May 13, 2008 in Developmental Cell, a research team led by Dr. Yingzi Yang, et al, reports that a cell signaling pathway, called Hedgehog signaling, regulates bone formation and resorption and reduces bone loss in aged mice. Hedgehog Signaling in Mature Osteoblasts Regulates Bone Formation and Resorption by Controlling PTHrP and RANKL Expression. [Summary] [Full Text]Developmental Cell, May 13, 2008
bullet In the November 2007 issue of Genome Research, NHGRI researchers Elaine A. Ostrander, Ph.D. and colleagues describe a multi-breed approach to identifying causative mutations in mapping common diseases in modern dog breeds. Now Available: Breed relationships facilitate fine mapping studies: A 7.8Kb deletion cosegregates with collie eye anomaly across multiple dog breeds. [Full TextPDF file] Genome Research, November 2007.
bullet Dr. Pamela Schwartzberg Inducted into the Association of American Physicians
Pamela Schwartzberg, M.D., Ph.D., senior investigator in the Genetic Disease Research Branch, is a 2008 inductee into the Association of American Physicians (AAP). She was inducted at AAP's annual meeting in Chicago, April 25-27, 2008.
bullet NHGRI researchers Dawn Watkins-Chow, Ph.D., and William J. Pavan, Ph.D. report in the January 2008 issue of Genome Research the discovery of variation within a single substrain of C57BL/6 laboratory mice. The NHGRI Genetic Disease Research Branch Mouse Embryology Section researchers identified a region of the genome that varies within the single strain even though the strain has been inbred for many generations to produce large numbers of nearly identical mice for research. They report that for the region we identified, the structural variation in the genome alters gene expression.
Genomic copy number and expression variation within the C57BL/6J inbred mouse strain. [Full Text PDF icon] Genome Research, January 2008.

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bullet NIH Intramural Sequencing Center (NISC) 10th Anniversary Symposium
To commemorate NISC's 10th anniversary, the National Human Genome Research Institute (NHGRI) held a one-day symposium on Oct. 16, 2007.
bullet The December 2007 issue of Public Library of Science (PLoS) Neglected Tropical Diseases features research describing the first reported large-scale, high throughput screening experiment to identify lead compounds for a helminthic (worm parasite) disease. Senior author Christopher P. Austin, M.D., and colleagues at the NHGRI administered NIH Chemical Genomics Center, along with colleagues at Illinois State University, co-authored the article: Quantitative High-Throughput Screen Indentifies Inhibitors of the Schistosoma mansoni Redux Cascade.
[Full Text] PLoS Neglected Tropical Diseases, December 2007.
bullet In an article in the November 20th issue of the Proceedings of the National Academy of Sciences, NHGRI's Dr. Shawn M. Burgess contributed to a study that describes how retroelements can significantly shape the regulatory network of a transcription factor in a species-specific manner.
Species-specific endogenous retroviruses shape the transcriptional network of the human tumor suppressor protein. [Full Text] Proceedings of the National Academy of Sciences, November 20, 2007.
bullet In an article in the Proceedings of the National Academy of Sciences, Dr. David Bodine and colleagues from NHGRI's Genetics and Molecular Biology Branch and the Genetic Disease Research Branch find that Wnt5a regulates hematopoiesis by the antagonism of the canonical Wnt pathway, resulting in a pool of quiescent HSCs.
Wnt5a inhibits canonical Wnt signaling in hematopoietic stem cells and enhances repopulation [Full Text] Proceedings of the National Academy of Sciences, September 25, 2007.
> In a commentary published in the August 2007 issue of Nature Chemical Biology, Dr. James Inglese, et al, propose guidelines for reporting small-molecule, high-throughput screening (HTS) data, noting that academic researchers increasingly are making use of HTS screening facilities. Reporting data from high-throughput screening of small-molecule libraries [Full Text ] Nature Chemical Biology, August 2007.
  • In a review in the same issue, Dr. Inglese and colleagues from the NIH Chemical Genomics Center address the factors for consideration when implementing assays for HTS, including design strategies, detection technologies and HTS assay examples. High-throughput screening assays for the identification of chemical probes [Full Text ] Nature Chemical Biology, August 2007.
> In a study published May 25, 2007 in PLoS Genetics, a research team led by Dr. Elaine A. Ostrander, et al, reports that a mutation in a gene that codes for a muscle protein known as myostatin can increase muscle mass and enhance racing performance in whippets. A Mutation in the Myostatin Gene Increases Muscle and Enhances Racing Performance in Heterozygote Dogs [Full Text] PLoS Genetics, May 25, 2007.
> In an article by NHGRI's Dr. Elaine Ostrander, et al, published in the April 6, 2007 issue of Science, researchers discover a genetic variant that is a major contributor to small size in dogs. A Single IGF1 Allele Is a Major Determinant of Small Size in Dogs [Full Text] Science, April 6, 2007.
> In an article for the March 14 issue of the Proceedings of the National Academy of Sciences (PNAS), NHGRI's Dr. Francis Collins and colleagues in the Genome Technology Branch and at Columbia University demonstrate a similarity in the cell damage from the premature aging associated with the rare genetic disorder Hutchinson-Gilford progeria syndrome and the normal aging process. The cell damage occurs during mitosis and is caused by a protein encoded by the LMNA gene. A lamin A protein isoform overexpressed in Hutchinson-Gilford progeria syndrome interferes with mitosis in progeria and normal cells [Full Text] PNAS, March 14, 2007.
> An article by NHGRI's Dr. Priya Duggal, et al, including colleagues from the National Cancer Institute, was published in the January 2007 Public Library of Science Genetics on the effect of genetic polymorphisms in the CUL5 gene on AIDS disease progression in five HIV-1 longitudinal cohorts. Polymorphisms of CUL5 Are Associated with CD4+ T Cell Loss in HIV-1 Infected Individuals. [Full Text] PLoS Genetics, January 25, 2007.

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> Social and Behavioral Research Branch Associate Investigator Barbara Biesecker, M.S., was co-editor of the November 15, 2006 issue of the American Journal of Medical Genetics. In addition, she co-authored two papers appearing in the special issue:
  • Uncertainty and Perceived Personal Control Among Parents of Children With Rare Chromosome Conditions: The Role of Genetic Counseling [Full Text] AJMG, November 15, 2006.
  • Through the Viewfinder: Positive Exposure a Year Later. [Full Text] AJMG, November 15, 2006.
> Premature birth exposes a newborn to increased risk for infection and dehydration because of the incomplete development of the epidermis. NHGRI researchers announce two new discoveries related to newborns at risk.
  • In the Nov. 20 Journal of Cell Biology, Genetics and Molecular Biology Branch Investigator Julia A. Segre teamed with researchers at NHGRI and at three collaborating institutions to report that the transcription factor Gata-3 is required to establish the epidermal barrier in fetal mice and that a specific defect in lipid content and organization underlies the selective barrier impairment of newborns. Lipid defect underlies selective skin barrier impairment of an epidermal-specific deletion of Gata-3 [Full Text] JCB, November 20, 2006.
  • In a study with premature mice appearing in the Nov. 27 Proceedings of the National Academy of Science, Segre and members of her team report that epidermal barrier acquisition during the in utero development stages is enhanced by a combination of treatment with transcription factor Klf4 and with corticosteroids. Klf4 and corticosteroids activate an overlapping set of transcription targets to accelerate in utero epidermal barrier acquisition. [Full Text] PNAS, November 27, 2006.
> Genetics and Molecular Biology Branch Senior Investigator Dr. Fabio Candotti is co-author for an Oct. 26 Perspective commentary in the New England Journal of Medicine. Dr. Candotti, along with former NHGRI Researcher Dr. Jennifer Puck, acclaims German researchers for identifying a unique null mutation carried by the relatives of boys with Wiskott-Aldrich syndrome, a rare condition. Lessons from the Wiskott-Aldrich Syndrome [Full Text] NEJM, October 26, 2006.
> In the October 24 issue of the Proceedings of the National Academy of Sciences, NHGRI's Dr. Leslie G. Biesecker, et al, report generating a transgenic knockout mouse model to study Amish lethal microcephaly. Knockout of Slc25a19 causes mitochondrial thiamine pyrophosphate depletion, embryonic lethality, CNS malformations, and anemia. [Full Text] PNAS, October 11, 2006.
> In the August 31 issue of the Proceedings of the National Academy of Sciences, NHGRI's Dr. David Bodine, et al, propose a model in which Hmgb3 is required for the proper balance between HSC self-renewal and differentiation. Hmgb3 regulates the balance between hematopoietic stem cell self-renewal and differentiation. [Full Text] PNAS, September 12, 2006.
> NHGRI's Dr. Yingzi Yang is featured in the August 11 issue of The NIH Record, in an article about her summer residency program lecture "The Making of Skeletons."
NHGRI's Yang Explores The Making Of Skeletons
> In the August 1 issue of the Proceedings of the National Academy of Sciences, NHGRI's Dr. Christopher Austin and Dr. James Inglese, et al, demonstrate the feasibility of qHTS for accurately profiling every compound in large chemical libraries (>105 compounds). qHTS produces rich data sets that can be immediately mined for reliable biological activities, thereby providing a platform for chemical genomics and accelerating the identification of leads for drug discovery.
Quantitative high-throughput screening: A titration-based approach that efficiently identifies biological activities in large chemical libraries [Full Text] PNAS, Aug. 1, 2006. [ePub July 25, 2006]
> In the July issue of Immunity, NHGRI's Dr. Pamela Schwartzberg, et al, find that Tec kinases differentially regulate development of conventional versus nonconventional lymphocytes.
Altered Development of CD8+ T Cell Lineages in Mice Deficient for the Tec Kinases Itk and Rlk [Full Text] []
Immunity, July 2006.
> In the June 21 issue of Neurology, NHGRI's Dr. Ellen Sidransky, et al, examined the glucocerebrosidase gene in 75 autopsy specimens with different synucleinopathies and identified mutations in 23 percent of cases of dementia with Lewy bodies, expanding on previous findings in subjects with Parkinson's disease. Mutations in this lysosomal protein may interfere with the clearance or promote aggregation of -synuclein.
Glucocerebrosidase mutations are an important risk factor for Lewy body disorders [Full Text]
Goker-Alpan O, Giasson BI, Eblan MJ, Nguyen J, Hurtig HI, Lee VM, Trojanowski JQ, Sidransky E. Neurology, June 21, 2006. [E-pub]
> In the June 5 issue of Journal of Experimental Medicine, NHGRI's Dr. Pamela S. Schwartzberg, et al, provide new insight into the nature of the T cell-intrinsic defects that affect antibody responses in SAP -/- mice. The examination of SAP -/- mice underscores both the extent and importance of these humoral defects, as well as the potential role of Ig therapy for the treatment of X-linked lymphoproliferative disease patients.
SAP regulates T cell-mediated help for humoral immunity by a mechanism distinct from cytokine regulation [Full Text]
> In the May issue of Cancer Cell, NHGRI's Dr. Paul Meltzer and Dr. David Smith, et al, have identified a homeobox gene, NKX2.2, which is both highly expressed in Ewing's sarcoma and essential for the transforming activity of EWS/FLI.
Ewing's sarcoma: General insights from a rare model [Full Text] [] Cancer Cell, May 2006.
> In the April 20 electronic issue of the Journal of Clinical Investigation, NHGRI Researcher Julie Segre and scientists at the National Institutes of Health report that excessive production of a specific protein - connexin 26 - disrupts the protective properties of the skin barrier when the skin barrier is compromised.
Connexin 26 regulates epidermal barrier and wound remodeling and promotes psoriasiform response [Full Text]
> In the March 9 issue of the Nature, independent testing by NHGRI Researchers Elaine Ostrander and Heidi Parker, and Princeton's Leonid Kruglyak, confirms that Snuppy - the Afghan hound created by embattled scientist B.C. Lee at the Seoul National University - is a clone.
DNA analysis of a putative dog clone [Full Text]
> In the February 21 issue of the Proceedings of the National Academy of Sciences, research led by NHGRI Director Dr. Francis Collins has developed a new progeria mouse model that will help scientists test experimental therapies for progeria and also explore cardiovascular disease in general.
Progressive vascular smooth muscle cell defects in a mouse model of Hutchinson-Gilford progeria syndrome [Full Text]
> In the February 7 issue of the Proceedings of the National Academy of Sciences, NHGRI Investigator Kyungjae Myung finds that the Ku heterodimer functions as a genomic gatekeeper through its crosstalk with DNA damage checkpoints.
Suppression of gross chromosomal rearrangements by yKu70-yKu80 heterodimer through DNA damage checkpoints [Full Text]
> In the January 17 issue of the Proceedings of the National Academy of Sciences, Scientific Director Dr. Eric Green and NHGRI researchers Dr. Pu Paul Liu and Dr. Gerard Bouffard, et al, find that a global analysis of gene expression of common translocations in acute myeloblastic leukemia (AML) can focus attention on the function of the genes with altered expression for future biological studies, as well as highlight genes/pathways for more specifically targeted therapy.
Gene expression profiles in acute myeloid leukemia with common translocations using SAGE [Full Text]
> In a perspective article for the New England Journal of Medicine, NHGRI's Dr. Paul S. Meltzer discusses how tracking down the genetic changes in cancer will prove to be a powerful approach in the selection of therapeutic targets for the treatment of malignant melanoma.
Genetic Diversity in Melanoma [Full Text] []
> In a study published in Blood, a team of scientists including NHGRI's Dr. Pu Paul Liu examine the hypothesis that decreased gene dosage of Runx1 may be a critical event in the development of leukemia, suggesting that a deficiency of Runx1 can indeed predispose mice to hematopoietic malignancies.
Runx1 deficiency predisposes mice to T-lymphoblastic lymphoma [Full Text] []

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> In the December 8 issue of Nature, NHGRI's Dr. Elaine Ostrander and an international team led by researchers at the Broad Institute of MIT and Harvard, publish the genome sequence of the dog, presenting a detailed analysis of the dog genome and how the data offers the potential for improving the health of man and man's best friend.
Genome sequence, comparative analysis and haplotype structure of the domestic dog [Full Text]
> In a study published in Science, an international team - including Dr. Elaine Ostrander from the Cancer Genetics Branch - finds that chromosomes tend to break in the same places as species evolve, resulting in rearrangements of their DNA, rather than at random locations - and that many of the breakage hotspots are also involved in human cancer.
Dynamics of Mammalian Chromosome Evolution Inferred from Multispecies Comparative Maps [Full Text] []
> The Scientist recognizes Dr. Shawn Burgess' research on insertional mutagenesis as one of this year's "Hot Papers." Read the full article:
Insertional Mutagenesis from a Viral Vector: Findings demonstrate the possibility and the reality [Full Text]
> NHGRI investigator Dr. Yingzi Yang, and her team from the Genetic Disease Research Branch discover a molecular switch that has implications for the treatment of bone and cartilage injuries and diseases. Wnt/?-Catenin Signaling in Mesenchymal Progenitors Controls Osteoblast and Chondrocyte Differentiation during Vertebrate Skeletogenesis [Full Text] []
> NHGRI investigators Dr. Robert Nussbaum and Dr. Aideen McInerney-Leo participated in a recent National Institute of Mental Health (NIMH) study that revealed clues about how a suspect version of a gene may slightly increase the risk for schizophrenia.
Brain Scans Reveal How Gene May Boost Schizophrenia Risk [NIH News Release]
> Genetics and Molecular Biology Branch Investigator and Epithelial Biology Section Head Julie A. Segre, Ph.D., helps identify enhancer elements that regulate the activation of the stress response involved in wound healing and other epidermal repair mechanisms.
Long-range comparison of human and mouse Sprr loci to identify conserved noncoding sequences involved in coordinate regulation [Abstract] []
> NHGRI Senior Investigator and Genetics and Molecular Biology Branch Chief Jennifer M. Puck, M.D., publishes an article in the The Journal of Allergy and Clinical Immunology about research on genetic testing for Severe Combined Immunodeficiency (SCID).
Development of population-based newborn screening for severe combined immunodeficiency [Full Text] []

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> Genetics and Molecular Biology Branch Investigator and Epithelial Biology Section Head Julie A. Segre helps identify enhancer elements that regulate the activation of the stress response involved in wound healing and other epidermal repair mechanisms.
Long-range comparison of human and mouse Sprr loci to identify conserved noncoding sequences involved in coordinate regulation [Abstract] []
> NHGRI researcher Pamela L. Schwartzberg, Senior Investigator, Genetic Disease Research Branch, publishes paper in the journal Immunity, elucidating the genetic mechanisms of X-linked lymphoproliferative disease.
SAP Regulates T(H)2 Differentiation and PKC-theta;-Mediated Activation of NF-kappaB1 [Full Text] []
> NHGRI Senior Investigator and Chief, Genetics and Molecular Biology Branch, Jennifer M. Puck, M.D., publishes Perspective article in the New England Journal of Medicine describing recent evidence that somatic mutations as well as germline mutations can cause cases of human autoimmune lymphoproliferative symdrome (ALPS).
Somatic Mutations - Not Just for Cancer Anymore [Full Text] []
> DIR Researcher Chris Austin and The Comprehensive Knockout Mouse Project Consortium discuss the international effort to make publicly available knockout alleles of all mouse genes.
The Knockout Mouse Project [Full Text] []
> DIR Researcher Elizabeth Gillanders, et al, publish a study in the Journal of the National Cancer Institute identifying regions of the genome that increase the risk of prostate cancer.
Combined Genome-Wide Scan for Prostate Cancer Susceptibility Genes [Full Text] []
> New pathway found for suppression of gross chromosomal rearrangements
[Abstract] []
> NIH Launches First Center In Nationwide Chemical Genomics Network
[Press Release]

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Last Updated: May 11, 2012