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This book covers recent developments and possible pitfalls in the diagnosis of genetic movement disorders and related conditions. It is divided into three sections: technical and scientific aspects; clinical aspects with guidance towards work-up; and ethical and legal aspects of genetic testing in a clinical and research setting. The first section includes chapters on genetic analysis and counselling with critical discussion of potential problems when interpreting the results. Clinical chapters summarize genetic forms of movement disorders including parkinsonism, tics and dystonia with algorithms for hands-on daily practice. Related conditions such as RLS, ataxias and dementias are also covered. Finally, chapters on ethical and legal aspects of genetic testing are included. Movement Disorder Genetics is aimed at clinicians and scientists working in the field of movement disorders and related conditions.
While advances in science and technology bring many advantages, we must not ignore the harm that they can cause. Rapid changes in genetic testing are a prime example, and indicators can now help to detect, address and treat diseases. However, in this new study, Aisling de Paor examines how genetic testing is also being used for non-medical reasons, for example for work opportunities and insurance coverage. Genetics, Disability and the Law is the first book of its kind to substantively consider an EU-level response to the use of genetic information. de Paor discusses how to help genetic and scientific research to evolve and grow, how to enhance public confidence in research, and how to control it so that it recognises our values and fundamental human rights. An understudied but vitally important topic, de Paor's work provides a valuable and timely contribution to the field of disability rights.
"The genetic investigation into mental illnesses has progressed rapidly since the mapping of the human genome. Driven by advances in genomic profiling technology, massive genomic datasets are powering the discovery of genetic variation associated to complex traits including mental illness. From severe neurodevelopmental disorders to schizophrenia and depression, genetic variation plays some role in risk. Critically, most mental illnesses are complex, multifactorial and the consequence of a combination of genetic and environmental influences. This chapter will introduce the genome, its variation, and the methods used to identify what variants and genes matter for mental illnesses"--
The Pan American Games, second only to the Olympics as the biggest international sports competition in the world, are held every four years (during the year prior to the Summer Olympics) under the sponsorship of the International Olympic Committee. This book lists the results of the Pan American Games from their commencement in 1951 through 1999. Los Juegos Panamericanos, los segundos mas importantes del mundo tras los Olimpicos, se han venido celebrando cada cuatro anos desde 1951. Se incluye en el presente trabajo bilingue un recuento de los resultados reflejados en dichos juegos a lo largo de su historia, desde los comienzos hasta los mas recientes, celebrados en 1999.