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Other relevant publications

The March of Dimes Global Report on Birth Defects, The Hidden Toll of Dying and Disabled Children.

This new report from the March of Dimes is the first to provide a global estimate of serious birth defects of genetic or partly genetic origin. It details the birth prevalence rates and the numbers of affected births in 193 countries. The report recommends steps that can be taken to prevent birth defects and improve the care of those affected in developing countries. Experience from high-income countries shows that overall mortality and disability from birth defects could be reduced by up to 70 percent if the recommendations in this report are broadly implemented

An epidemiologic assessment of genomic profiling for measuring susceptibility to common diseases and targeting interventions
Muin J. Khoury, Quanhe Yang, Marta Gwinn, Julian Little

This article explores the epidemiologic building blocks for assessing the potential use of genomic profiling to predict common diseases. It shows how the concept of gene-environment interaction can be used to define the clinical relevance of genetic testing at multiple loci for common disease susceptibility. Although illustrations are limited, they can be generalized to more genes and more modifiable risk factors. It shows how the measurement in epidemiologic studies of disease associations with multiple genotypes and environmental factors has an effect on the clinical validity and utility of genetic susceptibility tests.

Genomics and the Prevention and Control of Common Chronic Disease Emerging Priorities for Public Health Action (2005)
Muin J. Khoury, MD, PhD, George A. Mensah, MD

Increasingly, public health practitioners from academic, government, and other organizations have taken a proactive leadership role in assessing the relevance of this technology to population health and to community-based interventions (a new field often referred to as public health genetics, or genomics). This issue of Preventing Chronic Disease contains several articles illustrating various processes developed and applied by schools of public health and state health departments to evaluate the role of genomics and its relevance to the prevention of chronic diseases in the population.

Medical Genetics in Developing Countries (2004)
Arnold Christianson and Bernadette Modell

Abstract: Since Watson & Crick’s 1953 description of the structure of DNA, significant progress has been achieved in the control of congenital disorders, most of which has benefited industrialized countries. Little advantage accrued to developing nations, most of which in the same time frame achieved a significant epidemiological transition, resulting in congenital disorders attaining public health significance. The burden of congenital disorders in these lower-resource countries is high and they need to develop medical genetic services.We present a new pragmatic approach for the care and prevention of congenital disorders in these countries, pioneered initially by the World Health Organization.
Reprinted, with permission, from the Annual Review of Genomics and Human Genetics, Volume 5 (c)2004 by Annual Reviews

Genetics and Ethics in Global Perspective (2004)

This book reports and discusses their second and more representative study in 36 nations. The survey focused on actual situations that occur in the practice of medical genetics, presented as case vignettes that can also be used in teaching and policy discussion. Among the issues discussed are privacy, prenatal diagnosis, patient autonomy, directiveness in counseling, sex selection, forensic DNA banking, “genetic discrimination,” and “eugenics.”

About Thalassaemia (2003)

This book is focused on the needs of the patients with thalassaemia. Every effort has been made to describe in a simplified manner the disease and it's nature and to include all new scientific and clinical developments that have contributed to the impressive improvements achieved in recent years in the treatment and prevention of thalassaemia. Provision of accurate and updated information to patients with thalassaemia worldwide constitutes one of the most important objectives and reasons for the establishment of the Thalassaemia International Federation.

For a copy of the report please email

Prevention of Thalassaemia and other Haemoglobin disorders (2003)
Vol 1

This book provides a thorough overview of the issues involved in prevention. As such, it represents a major step towards the fundamental goal of the Thalassaemia International Federation (TIF) - that is, to establish prevention programmes based on the same high standard of best practice in every country in the world.

For a copy of the report please email

Immunization Against Alzheimer's Disease and Other Neurodegenerative Disorders

Promising effects in mice of immunization by ß-amyloid stimulated substantial research efforts and high hopes. Written for researchers and scientists in the fields of Alzheimer's disease, neurologic disorders and immunology, this book discusses the available information and the questions it raised by this research.

The Living Brain and Alzheimer's Disease

This book contains the proceedings of an international meeting held by the Ipsen Foundation to address how scientists can link the critical observations performed at autopsy with the events that occur over the previous twenty years of the illness-to use state of the art neural imaging methods in patients and in animal models to illuminate the natural history of the disease- in the living brain.

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