From the Editor-in-Chief

John P. Bilezikian, M.D. Editor-in-Chief

It has become traditional to emphasize in The Endocrine Society journals for the month of June, the main theme of the Annual Endocrine Society Meeting. This year, President Bill Crowley has selected for us to focus on: The Impact of the Human Genome on Endocrinology. The 84th Annual Meeting of The Endocrine Society itself will have many special features and events that illustrate how pervasive this theme has become in our specialty. For this month’s issue of JCEM, we are pleased to amplify this focus with a number of invited, special feature articles that will cover areas related to human genetics and genomics. In the Special Features section of the journal, you will find articles by experts on the following topics: Genetic Control and Susceptibility to Osteoporosis (Stuart Ralston); Genetic Causes of Human Reproductive Disease (Larry Jameson); Protein-Tyrosine Phosphatases as Emerging Targets for Therapeutic Intervention in Type 2 Diabetes and Related States of Insulin Resistance (Barry Goldstein); Monogenic Disorders of Puberty (George Chrousos); Pharmacogenomics in Endocrinology (Richard Hockett); Molecular Pathogenesis of Hypophosphatemic Rickets (Suzanne Jan de Beur and Michael Levine); and The Genetics of Nonmedullary Thyroid Carcinoma (Carl Malchoff). In addition, the June issue of JCEM features original research that also has as its theme the focus of the meeting. We have designated the 39 articles that fit within this thematic context as special original articles. They are identified in the Table of Contents immediately following the Special Features Section and before the Endocrine Care Section. Covering virtually the entire spectra of subspecialties in endocrinology, these articles provide further insight into the relationship between genes and human disease. In many articles, abnormalities in single genes are identified as pathogenetic in syndromes associated with congenital adrenal hyperplasia, autosomal dominant hypocalcemia, Frasier syndrome, congenital diabetes insipidus, familial glucocorticoid resistance, vitamin D resistance, hyperthyrotropinemia, MODY-candidate genes in diabetes mellitus, multiple endocrine neoplasia type I, autoimmune polyendocrinopathy, Leydig cell hypoplasia, and Kallman syndrome. Two articles are Rapid Communications. Hinney et al. report on the Ghrelin gene in relationship to missense variants and a frameshift mutation. Arends et al. have studied the IGF-I gene with respect to its clinical relevance for short children born small for gestational age. This section of thematically related original research also include new insights into the role of certain genes in endometriosis, Graves’ disease, human preimplantation embryos, ovarian function, and in myometrial genes in labor and partuition. The original article by Chan et al. describing the differential expression of human myometrial genes in labor is accompanied by an editorial by Romero, Kuivaniemi, and Tromp on Functional Genomics and Proteomics in Parturition.

We hope that you will find this special issue of JCEM to be of special interest to you.





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