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The haemoglobinopathies, collectively, are cause for significant morbidity and mortality, especially in parts of the world where health systems are weak. Children are the most severely affected. Despite much of the genetics and biology of haemoglobinopathies being known, and being used successfully in some countries to systematically reduce burden of disease, many low and middle income countries remain practically untouched by this knowledge and innovations. Commitment to systematic variant data collection is increasing, but this is occurring mostly in high-income countries where much of the diagnosis and testing takes place. There is a risk that countries where the burden of these diseases is highest are being left behind in a form of “genomic divide”.

This project seeks to apply recent developments in human genomics involving the systematic collection and sharing of variation data to fighting haemoglobinopathies (notably thalassaemias and sickle cell disease) in low- and middle-income countries.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency will also be addressed as proof of principle that additional health services can cheaply be added to a knowledge base and infrastructures established for haemoglobinopathies. Capacity to generate quality data on variants, to store it so that it can be shared internationally needs to be built in these countries. This genomic capacity will enable:

· Building the genetic evidence base for better management of delivery of local treatment, care and eventually even cure

· Forming a foundation for more broadly-focused genomic medicine by working with national, regional and local health care professionals to raise public awareness of the genetic basis of haemoglobinopathies.

GG2020 Challenge Goals

Goals of the project fall into the following main areas:

  1. To see growth in the quality and quantity of curated inputs from low- and middle-income countries participating in the project into internationally recognized genetic databases. Tackling haemoglobinopathies is an ideal entry point for these countries to develop the necessary infrastructure and expertise that can expand genetics and genomic medicine into other areas of health-service delivery
  2. To harmonize the sharing of all relevant variant data between countries in accordance with international best practice that integrates all the relevant ethical and regulatory frameworks and policies required to serve and protect patients at the same time that the necessary biotechnical systems and procedures are developed
  3. To ensure that the storage, curation and sharing of the relevant DNA variation information is sustainable in the medium and longer term by expanding and strengthening the international network of professionals, including curators, researchers, clinicians, bioinformaticians, counsellors, patient groups and health bureaucrats

Pursuit of these goals will raise the profile of genomic medicine in low and middle income countries among health bureaucrats in national, regional and international health organizations. It will also develop the capability of health professionals required for diagnosing, treating and counseling carriers in low and middle income countries thus giving them a greater voice and profile among genomic researchers and clinicians globally, regionally and nationally. This will mean that they can actively participate in the various partnerships required to encourage genomic medicine research and innovative health service delivery in low-resource settings.

Project leaders

Raj Ramesar

Prof. Raj Ramesar
Division of Human Genetics
Department of Clinical Laboratory Services
University of Cape Town
South Africa
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ZilfalilbinAlwi

Prof. Zilfalil bin Alwi
School of Medical Sciences
Universiti Sains Malaysia
Kelantan
Malaysia
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Project Partners

This project will not duplicate the work of other bodies and organizations already tackling haemoglobinopathies. Rather it will ensure that the relevant bodies and agencies already working in the field will be included in the project and that international cooperation and collaboration will result in optimal translation of locally relevant genomic information according to best clinical utility and practice.

Activities & Meetings

Planned events and meetings

Past activities

Contact Us

Helen M Robinson
Human Variome Project International Coordinating Office
PO Box 2138
Royal Melbourne Hospital, Victoria, 3050
Australia
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