Mendelian Genetics: Patterns of Inheritance and Single-Gene Disorders

Originally posted on RSGC:
By: Heidi Chial, Ph.D. (Write Science Right) © 2008 Nature Education Citation: Chial, H. (2008) Mendelian genetics: Patterns of inheritance and single-gene disorders. Nature Education 1(1) What can Gregor Mendel’s pea plants tell us about human disease? Single gene disorders, like Huntington’s disease and cystic fibrosis, actually follow Mendelian inheritance patterns. Mendel’s studies of inheritance patterns in pea plants are a solid…

Mitochondrial Disorders Overview

Originally posted on RSGC:
Mitochondrial Encephalomyopathies, Mitochondrial Myopathies, Oxidative Phosphorylation Disorders, Respiratory Chain Disorders   Patrick F Chinnery, PhD, FRCPath, FRCP, FMedSci Institute of Human Genetics Newcastle University Newcastle upon Tyne, United Kingdom Initial Posting: June 8, 2000; Last Update: September 16, 2010. Summary Go to: Disease characteristics. Mitochondrial diseases are a clinically heterogeneous…

Clinical / Medical Genetics officially recognized as an EU-wide specialty

Originally posted on RSGC:
Dear Colleagues, On March 3rd, 2011 the Commission adopted Regulation (EU) No 213/2011 amending Annexes II and V to Directive 2005/36/EC of the European Parliament and of the Council on the recognition of professional qualifications. This administrative act implies that the clinical / medical genetics specialty was officially recognised as an…

A profile of the genetic counsellor and genetic nurse profession in European countries

Originally posted on RSGC:
J Community Genet. 2012 January; 3(1): 19–24. Published online 2011 December 14 doi:  10.1007/s12687-011-0073-x PMCID: PMC3266962 Cristophe Cordier,1 Debby Lambert,2 Marie-Antoinette Voelckel,3 Ulrika Hosterey-Ugander,4 and Heather Skirton5 1Department of Oncology and Haematology, University Hospital of Strasbourg, Strasbourg, France 2Our Lady’s Children’s Hospital, Crumlin, Dublin 12, Ireland 3La Timone Hospital, Marseille, France…

What is a Genetic Consultation

Originally posted on RSGC:
Finding and visiting a genetic counselor or other genetics professional Source (the U.S.): Please choose from the following list of questions for information about meeting with a genetics professional (such as a medical geneticist or genetic counselor). On this page: What is a genetic consultation? Why might someone have a genetic…

Ancient DNA pinpoints Paleolithic liaison in Europe

Originally posted on Personal blog:
A young man who lived in Romania 37,000 to 42,000 years inherited as much as one-tenth of his DNA from a Neandertal ancestor, according to a new study of ancient DNA. Ever since spelunkers found a robust jawbone in a cave in Romania in 2002, some paleoanthropologists have thought that…

New complimentary webinar from Science

This webinar is the third in a series focusing on the cancer pathways that support tumor development, the emerging research in identifying and targeting these pathways, and innovations in the development of increasingly effective cancer therapy options. Recent advances in our understanding of cancer have revealed that the disease cannot be understood through simple analysis of genetic mutations within the cancerous cells. Instead, tumors should be considered as complex tissues in which the cancer cells communicate directly and indirectly with the surrounding cellular microenvironment and evolve traits that promote their own survival. In this webinar we will explore how cancer cells are able to reprogram their metabolic pathways to enable energy production under conditions that are disabling to most normal cells. Of particular interest are how tumor-specific metabolic changes promote oncogenic progression and how these changes can be exploited to develop more effective treatment options.