One thousand and one tales of genetic disorders in Arabs

This is a guest post from Ghazi O. Tadmouri,  assistant director of the Centre for Arab Genomic Studies, Dubai, United Arab Emirates.

In April 2003, scientists announced the completion of a high-quality sequence of the entire human genome, including data on 23,000 genes.  Nine years later, nearly 14,000 genes have been identified and the functions of only a few have been determined. While none of the Arab States contributed to the Human Genome Project at that time, today they are partners in gene annotation and human genome variation collection efforts through detailed analysis of the phenotypic and genotypic aspects of genetic disorders described in the region. Over the last 13 months, three major conferences that took place in the region emphasized this role, including the co-organization of the Human Genome Meeting 2011 with the 4th Pan Arab Human Genetics Conference in Dubai in March 2011, the International Conference on Consanguinity in Muscat in March 2012, and the 4th International Conference of Medical Genetics in Kuwait in April 2012.

A quick overview of the studies presented in these events strongly reflects a remarkable heterogeneity of genetic disorders recognized in Arab populations. The Catalogue of Transmission Genetics in Arabs (CTGA) database, maintained by the Centre for Arab Genomic Studies, Dubai, represents the most comprehensive knowledge base in this regard. The latest release of the database indicates the presence of at least 1,000 genetic disorders in Arab states, including 550 in Gulf Cooperation Council (GCC) countries alone. Yet, unlike many world populations, more than two-third of the genetic disorders in Arabs are autosomal recessive. This is probably a result of the widespread practice of consanguineous marriages, with rates ranging between 25-60% in many communities.

While some regard consanguinity as an undesired choice, scientists comprehend its potential in helping them to delineate the causative gene mutation of many genetic disorders. Whether genes linked to these disorders turn out to be novel or known ones, associated mutations always reveal an explosion of unprecedented human genome sequence variability. Based on the out-of-Africa model to describe the origin and early dispersal of anatomically modern humans, population geneticists strongly believe that the Arab world regions were the second oldest inhabited area by modern humans. This extended history is considered as the mother of all human genome variability in the Arab World.

While the CTGA Database catalogues variability in some 400 genes described in Arabs, this collection is far from complete as genome research is not equally practiced among Arab scientific centers. This issue implies a more interesting twist since geneticists indicate that more than 250 disorders have not been uncovered at all at the genetic level. The availability of associated gene knowledge will certainly have favorable implications on urgent needs of the region, including genetic counseling, proper diagnosis, prognosis, and appropriate management of patients with genetic disorders.  Yet, this situation offers a golden opportunity for Arab scientists to step into the ‘omics’ era by coordinating a long-awaiting Arab Human Variome Project.

Securing food through science and technology

Over the next 20 years, the number of people living on Earth will continue to grow exponentially but the arable land will not increase. How can we feed this ever increasing population if the land we have available to grow food remains the same, making less food available per person?

In a session organised by the German Academic Exchange Service (DAAD) during the BioVision 2012 meeting taking place at the Bibliotheca Alexandrina, researchers from Germany and Egypt gave their vision on how science and technology can help us remain food secure in the future.

“The most obvious solution is to quadruple our meat production in the next 20 years, which is impossible and unhealthy,” said Hannelore Daniel, a professor of molecular nutrition at Technische Universität München, Germany.

Mark Bücking from the Fraunhofer Institute for Molecular Biology and Applied Ecology IME-AE, Germany adds that by 2050, the world will need 100% more food then we are producing now. To manage to feed the population, 70% of this food must come from efficiency-improving technologies. More efficient food waste management will also be required. Currently, around 30% of the food produced in the developing and developed world ends up as waste.

There are already many scientific and technological innovations in food security and food chain management, but he stressed that more scientific innovation and interdisciplinary research will be crucial to meet the world’s increasing demands.

Lamis Ragab, a pediatrician at Cairo University, Egypt, added that the research conducted most be collaborative and cross-border, with easy and accessible communication of results. “Research on its own is not that helpful, but we need to work together to overcome the problem.”

Daniel provided clear goals for research in order to meet out increasing demand of food:

  • Provide more foods of high nutritional value
  • Promote healthy eating
  • Provide health-promoting environments
  • Provide political leadership that pushes for healthy lifestyles

“In short, we need a healthy diet for a healthy life in the future,” she says.

Making Arabic more accessible

A delegation from Qatar Science & Technology Park (QSTP), led by Sheikha Moza bint Nasser, chairperson of Qatar Foundation for Education, Science and Community Development (QF), unveiled Loghati, an online platform designed to make Arabic more accessible internationally during a visit to Italy.

“The Arabic language is poetic, but it risks being marginalized because it hasn’t modernized to meet today’s challenges. We need to revitalize the language,” said Sheikha Moza during the event.

Loghati means “my language” in Arabic. It is a technology created at QSTP which allows the creation of virtual libraries comprised of ancient and modern texts, where each document is a multi-dimensional information repository that can be accessed, amended, and instantly translated from Arabic into other languages and back again. It can also host audio and video material in its virtual libraries, offering people a full multimedia interface.

The platform employs an artificial intelligence that continuously “learns” and improves as more users interact with it. QSTP hopes the technology can help bridge cultural differences, and make Arabic knowledge and culture – which may be unavailable to millions due to the language barrier – more accessible.

“The Arab tradition for transferring knowledge, particularly among Bedouin people, was by word of mouth and the direct interaction between people. Loghati is the 21st century version of this tradition. This platform allows anyone to interface directly and seamlessly with great Arab works from anywhere in the world,” said Tidu Maini, Science and Technology Advisor and Chairman of QSTP.

QSTP hopes Loghati can be used to facilitate cross-cultural exchange and collaborative scientific research and allow the publication of more books.

A green revolution for the Arab Spring

Green economy
© Nature Middle East

The Arab world needs to invest in science research that focuses on a shift to green economies, suggests Najib Saab, environmentalist and secretary general of the Arab Forum for Environment and Development (AFED), in a commentary piece last week on SciDev.Net.

Saab hopes the Arab Spring should be the start of reform that clamps down on corruption and waste of natural resources, which should lead to substantial economic gains. The region currently focuses on exporting oil, gas and certain raw materials, which yield an increase in GDP but do not create enough jobs to satisfy the millions of unemployed youth across the region.

Saab suggests several measures that should have positive effect on the economy, such as shifting to sustainable agricultural practices, which could save up to US$114 billion annually and create millions of jobs in rural poorer communities. Reducing energy subsidiaries and greening existing buildings in the overflowing cities of the Arab world should also save billions. He argues that science and research policies should be employed to help this transition to green economies.

Many developing countries are often wary that investing in green economies will come with a substantial initial investment but Saab stresses it will bring net profits to the region as a whole.

You can read the full commentary piece here.

The future of science research in Egypt

With a parliament dominated by Islamists, a new constitution being written and presidential elections looming, what is the future of science research in Egypt after years of stagnancy under the previous regime?

Nile University, Egypt’s first research university, hosted university professors and scientists today in a conference to discuss their vision for boosting science research after a popular uprising about a year ago toppled long-time president Hosni Mubarak.

“When I talk about the future of Egypt I always talk about the future of science research, because science will be the way forward for us,” said Moataz Khorshid, ex-minister of higher education and scientific research in Egypt. “The science and knowledge gap is the most serious obstacle that developing world countries are facing.

“Our science spending does not surpass 0.4% of GDP, while the global average for advanced and successful countries is 3-4%,” says Khorshid. “Moreover, 89% of this comes from the public sector.” The private sector must be encouraged to fund research once they recognize the economic value of doing so.

“The country’s future strength will lie in technological projects,” says Tarek Khalil, provost of Nile University. Khorshid seconds his opinion, suggesting Egypt needs to move towards “research intensive industries,” such as information technology and pharmaceutical industries.

“In order to fulfill this vision, we need to improve technical training and education and work on boosting the research infrastructure in place, says Khalil. “We need to make Egypt attractive for researchers and research-producing industries.”

The attendees agreed there should be a general science strategy across the country’s different research institutes that fulfills the country’s needs, such as focusing on water and energy research. “We also need to understand that when we are putting together our future plan for science we must do so within the global context,” adds Korshid.

“We don’t need more talk in the media. We need all the state institutes to put science research as a priority. We need a clear strategy and good infrastructure that is not related to people in power so that it can continue smoothly as ministers come and go,” said former minister for scientific research Venice Kamel Gouda.

Ever since the popular uprising that toppled the previous regime, the future of Nile University has been in doubt when its new campus was allocated to Nobel Laureate Ahmed Zewail’s ambitious project, the Zewail City of Science and Technology.

The university has been struggling to regain its campus in the city of 6th of October on the outskirts of Cairo.

“I believe that every Egyptian scientist outside of Egypt yearns to come back and do something good for their country,” said Ibrahim Badran, past president of Cairo University. “I wish before I die to see all these people working together for the good of Egypt.”