Centronucleäre Myopathie mit autosomal dominantem Erbgang

Human Genetics - For the first time in Germany cases of a “centronuclear myopathy” are described in a 14-year-old boy and his 18-year-old sister. First symptoms in both patients...     

James F. Crow and the art of teaching and mentoring

To honor James F. Crow on the occasion of his 95th birthday, GENETICS has commissioned a series of Perspectives and Reviews. For GENETICS to publish the honorifics is fitting, as from their birth Crow and GENETICS have been paired. Crow was scheduled to be born in January 1916, the same month that the first issue of GENETICS was scheduled to appear, and in the many years that Crow has made major contributions to the conceptual foundations of modern genetics, GENETICS has chronicled his and other major advances in the field. The commissioned Perspectives and Reviews summarize and celebrate Professor Crow's contributions as a research scientist, administrator, colleague, community supporter, international leader, teacher, and mentor. In science, Professor Crow was the international leader of his generation in the application of genetics to populations of organisms and in uncovering the role of genetics in health and disease. In education, he was a superb undergraduate teacher whose inspiration changed the career paths of many students. His teaching skills are legendary, his lectures urbane and witty, rigorous and clear. He was also an extraordinary mentor to numerous graduate students and postdoctoral fellows, many of whom went on to establish successful careers of their own. In public service, Professor Crow served in key administrative positions at the University of Wisconsin, participated as a member of numerous national and international committees, and served as president of both the Genetics Society of America and the American Society for Human Genetics. This Perspective examines Professor Crow as teacher and mentor through the eyes and experiences of one student who was enrolled in his genetics course as an undergraduate and who later studied with him as a graduate student.     

Human Molecular Genetics: Research in Medical Genomics and Ethnogenomics

The review covers selected research topics in the fields of medical and ethnic genomics conducted at the Department of Molecular Bases of Human Genetics, the Institute of Molecular Genetics. Primary concern is given to genetic causes of monogenic neurological disorders, among them hepatolenticular degeneration (Wilson disease), torsion dystonia, and myotonic dystrophy. Results of polymorphic DNA marker surveys in Russia and neighboring countries are also presented.     

Human molecular genetics: study in the area of medical and ethnic genomics

The review covers selected research topics in fields of medical and ethnic genomics tackled at the Department of Molecular Basis of Human Genetics, the Institute of Molecular Genetics. Primary concern is given to genetic causes of monogenic neurological disorders, among them hepatolenticular degeneration (Wilson's disease), torsion dystonia, and myotonic dystrophy. Results of polymorphic DNA marker surveys in Russia and neighboring countries are also presented.     

"Do not lose the winning games". To the 100th anniversary of M.E. Lobashev

Mikhail E. Lobashev (1907-1971), Head of the Department of Genetics and Breeding with the Leningrad (now, St. Petersburg) State University from 1957 to 1971, had traveled a long way from a homeless to an Honored Scientist of the Russian Federation. Lobashev was among the discoverers of chemical mutagenesis in Drosophila; he pioneered in connecting the mutation process and the repair of genetic material and developed the concept of signal inheritance. Through the entire Great Patriotic War, he served with the field forces, and defended his doctoral dissertation on the physiological hypothesis of mutation process in 1946 on the return to the University. In 1948, Mikhail Efimovich was discharged from the University, where he was the Dean of the Biological Faculty, as a Morganist. On his return to the University in 1957, Lobashev devoted all his energies to the restoration of genetic education in this country, wrote the first domestic genetic textbook in the post-Lysenko period, organized the research at the Department of Genetics and Breeding, and created the scientific school, whose representatives are still successfully working in the field of genetics.     

Jonathon Howard.

Jonathon 'Joe' Howard (Fig. 1) is Group Leader and Director at the Max Planck Institute of Molecular Cell Biology and Genetics; he and his research group moved to Dresden, Germany, in July 2001. Howard received his PhD in neurobiology in 1983 from the Australian National University in Canberra. He did postdoctoral research there and also at the University of Bristol, UK, and at the University of California, San Francisco. In 1989, he joined the faculty at the University of Washington. His book "Mechanics of Motor Proteins and the Cytoskeleton" was published earlier this year. [interview by Mari N. Jensen]     

Genetic heterogeneity and population structure in eastern India: red cell enzyme variability in ten Assamese populations

This paper is a part of the genetic study of the people of Assam (eastern India), initiated by the Anthropometry and Human Genetics Unit, Indian Statistical Institute, Calcutta, India, and the Dept. of Human Biology/Physical Anthropology, University of Bremen, W. Germany. The results of 1. allele distribution of five red cell enzyme polymorphisms in ten Assamese populations, 2. heterogeneity of allele frequencies and extent of gene differentiation among these populations, and 3. standard genetic distances are presented here. A total of 1024 blood samples was screened for aP, E D, AK, ADA and LDH enzyme systems for Brahmins, Kalitas, Kaibartas, Rajbanshis, Muslims, Ahoms, Chutiyas, Kacharis, Karbis (Mikirs) and Sonowals, of which the latter three are tribes. The gene diversity (FST) is smallest (0.0035) for pa and highest (0.1604) for HbE. The total FST value (0.0399 +/- 0.0141) appears to be statistically significant. From distance analysis two major clusters with sub-clusters in each are visible, which are in conformity with the ethnohistory of these populations.     

Human genetics in full resolution

A report on the 12th International Congress of Human Genetics, joint with the 61st annual American Society of Human Genetics conference, Montreal, Quebec, 11-15 October 2011.     

Human genetics in full resolution

A report on the 12th International Congress of Human Genetics, joint with the 61st annual American Society of Human Genetics conference, Montreal, Quebec, 11-15 October 2011.     

Points to Consider: Ethical,Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents

In 1995, the American Society of Human Genetics (ASHG) and American College of Medical Genetics and Genomics (ACMG) jointly published a statement on genetic testing in children and adolescents. In the past 20 years, much has changed in the field of genetics, including the development of powerful new technologies, new data from genetic research on children and adolescents, and substantial clinical experience. This statement represents current opinion by the ASHG on the ethical, legal, and social issues concerning genetic testing in children. These recommendations are relevant to families, clinicians, and investigators. After a brief review of the 1995 statement and major changes in genetic technologies in recent years, this statement offers points to consider on a broad range of test technologies and their applications in clinical medicine and research. Recommendations are also made for record and communication issues in this domain and for professional education.     

The Editors' Recollections on the Occasion of the 60 Anniversary of The American Journal of Human Genetics

Volume 1, Number 1 of The American Journal of Human Genetics was published in September 1949. The first paper was an 18-page preface to the journal by H. J. Muller, president of The American Society of Human Genetics, entitled “Progress and Prospects in Human Genetics.” Charles W. Cotterman served as the first editor, and since that time a dozen other human geneticists have shared that distinction. In recognition of the 60^th anniversary of AJHG, recollections of five editors are recorded here.     

The molecular genetics of early human life

Molecular Genetics of Early Human Development(Human Molecular Genetics series), edited by T. Strachan, S. Lindsay and D.I. Wilson, Bios Scientific Publishers, 1997. £65 (xiv+265 pages) ISBN 1 859960 31 6     

Position on the publication of S. Ehrhardt (1990): Setukesen. A population group between Estonians and Russians in southeast Estonia. Homo 40, 159-175. Reflections on responsibility in anthropological works]

The uncommented publication of data on Setukesen people (SE Estonia), which were collected in 1942, by the scientific journal Homo (40, 159-175, 1990) is remarkably unreceptive to discussions within the scientific community at large. Therefore some basic considerations on scientific ethics in anthropology are outlined. Unfortunately Homo has refused to publish this statement which was written on appointment of the advisory board of the German Society of Anthropology and Human Genetics.     

The effect of ultrasound on human chromosomes in vitro

Human Genetics - Human peripheral blood and cultured human lymphocytes undergoing the first mitosis were exposed to ultrasound in order to find out whether ultrasound can induce chromosome...     

Q & A. Philip Ingham

Philip Ingham grew up in Liverpool and graduated from Cambridge University in 1977. He did his D.Phil in Developmental Genetics at Sussex University and postdoctoral work in Strasbourg, France before joining the laboratory of David Ish-Horowicz at the ICRF Mill Hill Laboratories. Here he applied the emerging technique of tissue in situ hybridisation to the analysis of the Drosophila segmentation genes. After a short spell at the MRC Laboratory of Molecular Biology in Cambridge, he rejoined the ICRF as a Research Scientist at the Developmental Biology Unit in Oxford. His group pioneered the analysis of the Hedgehog signalling pathway in Drosophila and in collaboration with the labs of Andy McMahon and Cliff Tabin at Harvard University, discovered the Hedgehog gene family in vertebrates. In 1996 he was appointed Professor of Developmental Genetics at the University of Sheffield where he has established the Centre for Developmental Genetics.     

Stuart Schreiber

Stuart Schreiber is an Investigator at the Howard Hughes Medical Institute and Morris Loeb Professor in the Department of Chemistry and Chemical Biology at Harvard University. His chemical biology research, which uses small molecules derived from diversity-oriented synthesis, observational screens and information science, has uncovered principles that underlie information transfer and storage in cells. Harvard's ICCB and its affiliated, NCI-sponsored Initiative for Chemical Genetics and the NIGMS-sponsored Center of Excellence in Chemical Methodologies and Library Development are facilitating his research.     

Education and certification of genetic counselors.

Genetic counseling is defined by the American Society of Human Genetics as a communication process which deals with the human problems associated with the occurrence, or risk of occurrence, of a genetic disorder in a family. The first graduate program (Master's degree) in genetic counseling started in 1969 at Sarah Lawrence College, NY, USA, while in 1979 the National Society of Genetic Counseling (NSGC) was established. Today, there are 29 programs in U.S.A. offering a Master's degree in Genetic Counseling, five programs in Canada, one in Mexico, one in England and one in S. Africa. Most of these graduate programs offer two year training, consisting of graduate courses, seminars, research and practical training. Emphasis is given in human physiology, biochemistry, clinical genetics, cytogenetics, molecular and biochemical genetics, population genetics and statistics, prenatal diagnosis, teratology and genetic counseling in relation to psychosocial and ethical issues. Certification for eligible candidates is available through the American Board of Medical Genetics (ABMG). Requirements for certification include a master's degree in human genetics, training at sites accredited by the ABMG, documentation of genetic counseling experience, evidence of continuing education and successful completion of a comprehensive ABMG certification examination. As professionals, genetic counselors should maintain expertise, should insure mechanisms for professional advancement and should always maintain the ability to approach their patients.     

Four Children and Yale: The Making of a Human Geneticist: The Grover Powers Lecture 2014

Dr. Leon E. Rosenberg delivered the following presentation as the Grover Powers Lecturer on May 14, 2014, which served as the focal point of his return to his “adult home” as a Visiting Professor in the Department of Pediatrics. Grover F. Powers, MD, was one of the most influential figures in American Pediatrics and certainly the leader who created the modern Department of Pediatrics at Yale when he was recruited in 1921 from Johns Hopkins and then served as its second chairman from 1927 to 1951. Dr. Powers was an astute clinician and compassionate physician and fostered and shaped the careers of countless professors, chairs, and outstanding pediatricians throughout the country. This lectureship has continued yearly since it first honored Dr. Powers in 1956. The selection of Dr. Rosenberg for this honor recognizes his seminal role at Yale and throughout the world in the fostering and cultivating of the field of human genetics. Dr. Rosenberg served as the inaugural Chief of a joint Division of Medical Genetics in the Departments of Pediatrics and Internal Medicine; he became Chair when this attained Departmental status. Then he served as Dean of the Medical School from 1984 to 1991, before he became President of the Pharmaceutical Research Institute at Bristol-Myers Squibb and later Senior Molecular Biologist and Professor at Princeton University, until his recent retirement. Dr. Rosenberg has received numerous honors that include the Borden Award from the American Academy of Pediatrics, the McKusick Leadership Award from the American Society for Human Genetics, and election to the Institute of Medicine and the National Academy of Sciences.     

“Do not lose the winning games” to the 100th anniversary of M.E. Lobashev

Mikhail E. Lobashev (1907–1971), Head of the Department of Genetics and Breeding with the Leningrad (now, St. Petersburg) State University from 1957 to 1971, had traveled a long way from a homeless to an Honored Scientist of the Russian Federation. Lobashev was among the discoverers of chemical mutagenesis in Drosophila; he pioneered in connecting the mutation process and the repair of genetic material and developed the concept of signal inheritance. Through the entire Great Patriotic War, he served with the field forces, and defended his doctoral dissertation on the physiological hypothesis of mutation process in 1946 on the return to the University. In 1948, Mikhail Efimovich was discharged from the University, where he was the Dean of the Biological Faculty, as a Morganist. On his return to the University in 1957, Lobashev devoted all his energies to the restoration of genetic education in this country, wrote the first domestic genetic textbook in the post-Lysenko period, organized the research at the Department of Genetics and Breeding, and created the scientific school, whose representatives are still successfully working in the field of genetics.     

Localization of a novel,LPS-inducible member of the thymidylate kinase family to mouse Chromosome 12

Department of Molecular and Human Genetics, Houston, USA