Initiating a Human Variome Project Country Node

Al‐Aama, Jumana Y.; Smith, Tim D.; Lo, Alan; Howard, Heather J.; Kline, Alexandria A.; Lange, Matthew; Kaput, Jim; Cotton, Richard G.H.

doi:10.1002/humu.21463

Cited by 14 publications

(15 citation statements)

References 5 publications

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“…Furthermore, there is no countrywide database for mutations reported by diagnostic and research laboratories. However, the ground work for an ambitious node formation in Saudi Arabia of the Human Variome Project has been initiated [AlAama et al, 2011].…”

Section: The Need For a National Registrymentioning

confidence: 99%

Map of autosomal recessive genetic disorders in Saudi Arabia: Concepts and future directions

Al‐Owain

Alzaidan

Al‐Hassnan

2012

American J of Med Genetics Pt A

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Saudi Arabia has a population of 27.1 million. Prevalence of many autosomal recessive disorders is higher than in other known populations. This is attributable to the high rate of consanguineous marriages (56%), the tribal structure, and large family size. Founder mutations have been recognized in many autosomal recessive disorders, many of which are overrepresented within certain tribes. On the other hand, allelic heterogeneity is also observed among common and rare autosomal recessive conditions. With the adoption of more advanced molecular techniques in the country in recent years in conjunction with international collaboration, the mapping of various autosomal recessive disorders has increased dramatically. Different genetic concepts pertinent to this highly inbred population are discussed here. Addressing such genetic disorders at the national level will become a cornerstone of strategic health care initiatives in the 21st century. Current efforts are hampered by many socio-cultural and health care related factors. Education about genetic diseases, establishment of a "national registry" and mutational database, and enhanced healthcare access are crucial for success of any preventative campaign.

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Section: The Need For a National Registrymentioning

confidence: 99%

Map of autosomal recessive genetic disorders in Saudi Arabia: Concepts and future directions

Al‐Owain

Alzaidan

Al‐Hassnan

2012

American J of Med Genetics Pt A

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“…These collaborative research strategies may improve translation of basic research to local societies. One example of this capacity building is the Human Variome Project, aiming to understand the genetic basis of human diseases in developed and developing countries (Patrinos et al 2010;Al Aama et al 2011).…”

Section: The Next Stepsmentioning

confidence: 99%

Consensus statement understanding health and malnutrition through a systems approach: the ENOUGH program for early life

Kaput

Ommen²,

Kremer³

et al. 2013

Genes Nutr

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Nutrition research, like most biomedical disciplines, adopted and often uses experimental approaches based on Beadle and Tatum's one gene-one polypeptide hypothesis, thereby reducing biological processes to single reactions or pathways. Systems thinking is needed to understand the complexity of health and disease processes requiring measurements of physiological processes, as well as environmental and social factors, which may alter the expression of genetic information. Analysis of physiological processes with omics technologies to assess systems' responses has only become available over the past decade and remains costly. Studies of environmental and social conditions known to alter health are often not connected to biomedical research. While these facts are widely accepted, developing and conducting comprehensive research programs for health are often beyond financial and human resources of single research groups. We propose a new research program on essential nutrients for optimal underpinning of growth and health (ENOUGH) that will use systems approaches with more comprehensive measurements and biostatistical analysis of the many biological and environmental factors that influence undernutrition. Creating a knowledge base for nutrition and health is a necessary first step toward developing solutions targeted to different populations in diverse social and physical environments for the two billion undernourished people in developed and developing economies.

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“…Those nodes are data repositories that are run, managed, and funded within each country, and that could correspond with local databases and international LSDBs. In this issue is described how to initiate a HVP Country Node [Al Aama et al, 2011]. Nodes exist already in Belgium, China, Egypt, Malaysia, and Australia.…”

Section: Registries For Mutationsmentioning

confidence: 99%