Medical genetics consultation

Medical genetics have three components: clinical, chromosomal and molecular The role of this clinical-biological discipline is to diagnose genetic diseases, participate in the management of patients, offer genetic counselling to family members concerning the probability of occurrence or reoccurrence of genetic diseases, and suggest preventive measures to couples at risk. A specific aspect of genetic counselling is that it is aimed at healthy or affected individuals taking into account all the members of their family

Webcast courses in Medical Genetics and next generation sequencing

The European School of Genetic Medicine organised the 26th Course in Medical Genetics and the 2nd Course in Next Generation Sequencing, between the 12th and 20th May 2013. Both courses were webcast live from the Bologna University Residential Centre, Bertinoro, Italy. Participants in Malta attended these courses at the University’s Medical School. The course in Medical Genetics covered various aspects of this rapidly developing field of Medicine. The different methodologies used in human genome analysis, an introduction to Next Generation Sequencing (NGS), approaches to clinical and molecular genetics, complex genetic disorders, therapy and gene regulation, were covered. The second course provided a comprehensive insight into NGS technologies, from the basics to the new world of disease gene identification by hand-held devices. It also covered insights into bioinformatics challenges, sample preservation and trans-omic studies, and new frontiers including the investigation of single cells and of the non-coding genome.peer-reviewe

Comparison of Fluorescein Isothiocyanate-Conjugated and Texas-Red-Conjugated Nucleotides for Direct Labeling in Comparative Genomic Hybridization

Fil: Larramendy, Marcelo Luis. Cátedra de Citología. Facultad de Ciencias Naturales y Museo. Universidad Nacional de La Plata; ArgentinaFil: Elrifai, Wa`el. Department of Medical Genetics. Haartman Institute. University of Helsinki. Helsinki; FinlandFil: Knuutila, Sakari. Laboratory of Medical Genetics. Helsinki University. Central Hospital. Helsinki; Finlan

Introduction to Medical Genetics

Medical genetics is the key to modern biochemistry and underlying mechanisms of many diseases

The early history of medical genetics in Canada

This article shows that the intellectual and specialist movements that supported the growth of medical genetics in Canada between 1947 and 1990 were emergent phenomena, created, split, and reattached to different groups of actors, and reconfigured numerous times over the course of four decades. In each instance, new kinds of working relationships appeared; sets of diverse actors in local university-hospital settings coalesced into a new collectivity; and, as a collectivity, actors defined and/or redefined occupational roles and work rules. In its beginnings, medical genetics appears to be the object of a serious institutional manoeuver: a movement in support of the creation of examining and teaching positions in human genetics in North American medical schools. With time, the institutionalization of ‘medical genetics’ took hold, spurred on by changes in the rate and direction of service delivery associated with genetic consultation and laboratory services in clinical settings. Medical genetics in Canada consequently gained a semblance of unanimity over its basic reference points and arrived at a meaning directly tributary to current acceptance of the term

Medical genetics in clinical practice

Two hundred and fifty-four patients were seen in the Genetic Clinics during 1973, the first full year of activity of the Department of Human Genetics, University of Cape Town. The current role of medical genetics in clinical practice is exemplified by an analysis and discussion of the problems presented by these individuals.S. Afr. Med. J., 48, 1759 (1974)