Forum focus on genetic defects in babies
10.12.2003
Due to the high rate of consanguineous marriages among UAE nationals, which has reached 51 per cent of total marriages, the country has a high rate of single gene defects among new-born, according to a senior genetic researcher. Genetic disorders and their prevention and treatment, were among the issues discussed at the first International Genetics Congress, which was inaugurated yesterday at the Shangri-la Hotel.
Dr Ahmad Khamis Al Mutawa, Deputy Vice-Chancellor of UAE University for Planning, opened the three-day event. The congress is being held under the slogan ‘Genetics: Global challenge, Regional Focus' and will discuss advances in community and preventive genetics.
Delivering the opening speech, Dr Yousef M. Abdel Razak, Vice-Dean of the Faculty of Medicine and Health Sciences at UAE University and Chairman of the Scientific Committee of the Shaikh Hamdan Foundation, welcomed the participants to the congress, which is being held under the patronage of Shaikh Nahyan bin Mubarak Al Nahyan, UAE Minister of Higher Education and Scientific Research, Chancellor of UAE University.
"The UAE has taken great strides in health care in the last two decades and because of improved pre-natal care, the infant mortality rate has decreased to 8.4 per 1,000 live births in the year 2000, a rate similar to that of developed countries. On the other hand, mortality due to genetic diseases has increased dramatically accounting for 75 per cent of neo-natal deaths, compared to only 30 per cent of neo-natal deaths a decade ago," Dr Abdel Razak said. He said that the rate of congenital abnormality at birth in the UAE is about 22 per 1,000 live births, which he added is a grossly underestimated figure since many congenital abnormalities are detected long after birth.
"The UAE has a high incidence of single gene defects which accounts for the high rate of autosomal recessive disorders. This is related to the high rate of consanguineous marriages, which is around 51 per cent of marriages between UAE nationals," Dr Abdel Razak said.
Dr Abdel Razak said that the UAE has paid special attention to prevention and treatment of genetic disorders. Genetics is one of seven priority research subjects at the Faculty of Medicine and Health Sciences (FMHS), UAE University.
"The population-based registry of congenital abnormalities at the UAE Ministry of Health records all babies born with such disorders and it has given us an excellent idea of how prevelant genetic disorders are in the country," Dr Abdel Razak said.
He said that the Genetic Group at the FMHS has its own registry for the Al Ain region. The Genetics Group is also a member of the International Clearing House for Birth Defects Monitoring System, an international organisation to which all genetic diseases from member countries are reported. He said that the Shaikh Hamdan bin Rashid Al Maktoum Award for Medical Sciences, which established the Centre for Arab Genomic Studies, is a major sponsor of the International Genetics Congress, which will serve as a forum for the exchange of knowledge and expertise.
There are 350 participants from 30 different countries currently attending the congress. They will sit through 52 lectures and presentations by some of the leading and most eminent researchers in the field of genetics and inherited diseases.
Khaleej Times
Expert laments lack of statistical data
10.12.2003
The two main obstacles that face any genetic research project in the Arab countries are, the dearth of comprehensive statistical data on genetic diseases and their prevalence rate, and the lack of funding due to widespread ignorance about the science of genetics.
Professor Taher Al Sharqawi, Faculty of Medicine and Health Sciences, UAE University and member of the Executive Committee of the Centre for Arab Genomic Studies (CAGS), said that genetic diseases are some of the most common health problems in Arab countries, resulting in a burden on the health care infrastructure and the local economy.
"We had hoped to see greater progress in genetic research in the Arab world, but it is lamentable that the greatest Arab researcher in this field currently resides in Canada, although his invaluable research continues to be of great benefit.
"Those who can donate funds to genetic research do not have enough information on the subject. We also have a shortage in human resources in this crucial field of study. I was surprised when I came to the UAE 18 years ago - there was not a single clinical geneticist, the UAE University does not even have a hereditary diseases section at the faculty of medicine, such a section is vital," Prof Sharqawi said.
He said that an Arab Committee for Studying Genetic Diseases was set up in America by 30 Arab Scientists for studying genetic disorders among Arab populations. To this day, the improper record keeping practices at hospitals in the region are among the major obstacles standing in the way of getting a clear picture of prevalent genetic disorders, which is vital if any fruitful research is to be carried out in this field.
"We would first need to know what diseases to focus on and what to ignore, but collecting such data is a problem in the Arab world as each country has its own unique data collection process and there is resistance to change.
"We need a unified data base of genetic diseases. We are currently working on such a data base and trying to work with scientists from around the Arab world to find a system that everyone can accept," Prof Sharqawi said.
"The larger the family size the bigger the chance for genetic disorders to manifest themselves. There are many good efforts being made to deal with this problem.
"The first goal is to treat patients and rehabilitate those suffering from such disorders with the ultimate goal of limiting the prevalence of genetic disorders and prevention through early detection, pre-natal testing, pre-marital testing and creating awareness among the general public," Prof Sharqawi said.
Prof Sharqawi said using gene therapy to fix a defective gene or to stop a defective gene from causing a genetic disorder are theoretically valid approaches and animal tests have seen some success. But, problems arise when medical science comes face to face with ethical, cultural and even religious objections to gene therapy in humans.
Khaleej Times
Test to avoid thalassaemia among new-born babies
10.12.2003
In order to avoid birth of children with debilitating genetic disorders, such as thalassaemia, UAE nationals are encouraged to get tested before marriage to find out if they are carriers of the thalassaemia gene or other genetic disorders. For couples already married, who are carriers of such genes and expecting a baby, they now have an oppportunity to find out if the foetus will develop into a thalassaemic child or not.
According to an health official, each year an average of 70 expecting UAE couples are flown abroad on the government's expense to get pre-natal tests done that can determine if their foetus is thalassaemic or not before the third month of pregnancy. If the foetus is thalassaemic, the parents have the choice to abort the pregnancy if they wish. The tests are 99.5 per cent accurate.
Fatwas from the holy city of Makkah, the Al Azhar University in Egypt and from Iran, have permitted the abortion of foetuses before the first trimester is reached in cases where the foetus would be born with a debilitating genetic disease that will cause life-long suffering.
Dr M. Naveed, Clinical Geneticist at the Al Wasl Hospital's Genetic Research and Thalassaemia Centre and a lecturer at the Dubai Medical College, made a presentation yesterday on the Dubai experience in pre-natal diagnosis and on prevelent genetic disorders in the region, at a medical workshop on genetic disorders in the Arab world held at the Shangri-la Hotel.
Speaking to Khaleej Times, Dr Naveed said: "The carriers of the Beta-Thalassaemia gene among the local population has reached 49 per cent. Thalassaemia is also common among the expatriate population, with prevelance rates among the South East Asian community reaching 8.3 per cent.
"If two carriers of the gene marry, there is a 25 per cent chance that the child will be born with thalassaemia, a 50 per cent chance that the child will be born a carrier like his parents and a 25 per cent chance that the child will be completely normal."
He said that genetic diseases are not easy to manage and treat but they can be prevented. Awareness makes a big difference. In Sardinia on the Mediterranean, where thalassaemia was rampant at one point, there has not been a single child born with thalassaemia in the past 15 years due to increased awareness among the population on the dangers of consanguineous marriages, identification of carriers through compulsory blood tests and pre-natal testing.
Dr Naveed said that pre-natal tests are essential to set the parents' mind at ease, adding that a child born to two carrier parents still has a 75 per cent chance of being born without thalassaemia.
Couples who are both carriers can go for artificial insemination as a guaranteed method to have a non-thalassaemic child. An egg is taken from the female and fertilised by the male sperm. Then when the embryo divides into eight cells one of the cells is extracted and tested. Healthy embryos are then implanted into the female or stored for the couple until such a time as they wish to have a child.
"The first pre-implantation genetic diagnosis was recently carried out for a patient at the Genetic Research and Thalassaemia Centre at Al Wasl Hospital and the embryo was successfully implanted. The patient has given birth to a healthy baby one month ago," Dr Naveed said.
He said that the goal of the Centre for Arab Genomic Studies, an initiative of the Shaikh Hamdan bin Rashid Al Maktoum Award for Medical Sciences, which is expected to be up and running by the end of next year, is to collect data on genetic diseases to identify other rampant genetic disorders in the Arab countries with the aim of preventing these debilitating disorders.
The Emirates Thalassaemia Society, made up of the parents of thalassaemic children, has done a lot to increase awareness about this disease by introducing it as a subject in school curricula, by getting the UAE Marriage Fund to make pre-marital blood tests compulsory and by spreading awareness in the community. Dr Naveed said that it is time other genetic diseases in the Arab region are tackled with equal zeal.
Professor Ahmad Teebi, Professor of Paediatrics and Medical Genetics at the University of Toronto and Head of the Clinical Genetics and Dysmorphology Section, addressed the workshop yesterday delivering a lecture titled: Patterns of inherited diseases among Arabs.
He started by tracing the various migrations to and from the Arabian Peninsula, the first of which was around 3,500BC, the second at 2,500BC, the third during the emergence and expansion of Islam, the fourth during the Crusades, when Europeans mixed with the indigenous inhabitants. The last of these migrations was in the 19th and 20th centuries with the increase in international trade, making the Arab population ethnically diverse.
Prof Al Teebi said that in the Arab countries there is a high level of consanguineous marriages, reaching 90 per cent in some isolated communities in Saudi Arabia.
"The average Arab family size is six members and an extended family pattern is widely prevelant. There is usually a multi-generational practice of consanguinity and we see an increased frequency of autosomal recessive disorders," Prof Al Teebi said.
Khaleej Times
Top geneticists set to join CAGS
9.12.2003
The Centre for Arab Genomic Studies (CAGS), established by the Shaikh Hamdan bin Rashid Al Maktoum Award for Medical Sciences, will have now have a premise and a team of superb geneticists.
It be up and running by the end of next year, according to Dr. Yousef M Abdel Razak, Vice-Dean of the Faculty of Medicine and Health Sciences at UAE University and Chairman of the Scientific Committee of the Shaikh Hamdan Foundation.
"We know that genetic diseases are the leading cause of death among new born babies, now that other known killers, such as infectious diseases, have been brought under control.
"The high number of consanguineous marriages and marriages between close cousins in the Arab region, is the main cause of genetic disorders. The first step is to find the cause of these diseases and identify the genes responsible for the disease, the second step is to find a cures for these disorders and map the demographic prevalence of genetic diseases," Dr. Abdel Razak said.
He said the CAGS was set up to cater to the genetic research needs of all Arab countries, adding that it will be staffed by the best scientists and technicians. He said that delegations from the health authorities of several Arab countries have visited the UAE Minister of Health, Hamad Abdel Rahman Al Midfa, since the CAGS was formally established at a ceremony in June at Al Wasl Hospital, and have expressed enthusiasm for the project.
The workshop on genetic disorders in the Arab World held on Monday and the First International Genetic Congress, which was inaugurated today, are the first scientific meetings organised by the executive committee of the CAGS. Dr. Abdel Razak said that by the end of this year the CAGS premises should be completed.
Prof. Najeeb Al Khaja, President of the Centre for Arab Genomic Studies, in his opening speech at the start of the genetics workshop on Monday, said that the CAGS has been established due to the impact of genetic disorders in the region and the necessity to alleviate the substantial suffering of those stricken by these diseases, for which reason Shaikh Hamdan bin Rashid Al Maktoum, Dubai Deputy Ruler and UAE Minister of Finance and Industry, issued a decree for the establishment of the CAGS.
"Today we have pioneers in medicine from all over the world and the region to give us up-to-date information on a variety of inherited diseases occurring among Arab populations. I hope this workshop is successful in providing information as to the extent of the problem of genetic disorders in the Arab world," Prof. Al Khaja said.
Khaleej Times
Genetic-based infant deaths rise
21.11.2003
Prenatal care has decreased infant mortality rate to a great extent but infant deaths due to genetic disorders among UAE nationals have shot up sharply.
According to research-ers, the main reason for this is the high rate of consanguinity.
The infant mortality rate a decade ago was just one-third the current level, said Dr Yousef M. Abdulrazzaq, Vice Dean at the Faculty of Medicines and Health Sciences (FMHS) at the UAE University (UAEU).
"The UAE has a high incidence of single gene defects accounting for a high rate of autosomal (pertaining to chromosome other than the one that determines sex) recessive disorders. This is related to the high rate of consanguin-eous marriages."
Speaking at a press conference, Dr Abdulrazzaq, also an Associate Professor at the Paediatrics Department of the FMHS, said the rate of consanguineous marriages among nationals has been as high as 51 per cent. The rate of major congenital abnormalities at birth is 22 in 1,000 live births. "This is an under-estimate as many are detected later."
The FMHS houses the national registry for monitoring genetic disorders in the country. Established by the Ministry of Health, it registers all babies born with congenital abnormalities.
Research on congenital abnormalities is also one of the seven priority subjects at the FMHS as genetic disorders are given importance nationally, he said.
The registry gives researchers an idea of how prevalent genetic disorders are.
The Genetics Group at the faculty is also a member of International Clearing House for Birth Defects Monitoring System, an organisation to which all genetic diseases from member counties are reported.
Dr Abdulrazzaq said the Sheikh Hamdan bin Rashid Al Maktoum Award recently established the Centre for Arab Genomic Studies to bring together geneticists and research scientists from different Arab countries.
"These researchers are working for a common goal of identifying genetic disorders, studying the demography of these diseases, performing research on prevention of genetic disorders and finding treatment for these problems.
"A separate fund has also been constituted to encourage scientists to do research in this field."
He also announced the holding of the First International Genetics Cong-ress next month in Dubai. The three-day event will open on December 9.
The congress will be organised by the Genetics Research Group from the FMHS. Sheikh Hamdan Award for Medical Sciences is a major sponsor of the event.
He said a number of internationally renowned scientists will give lectures on different aspects of the genetic disorders and their treatments.
The congress will also be attended by more than 350 participants from 30 different countries.
A total of 52 oral presentations and 117 poster presentations will be made at the gathering.
Gulf News
Study discovers rare case of X chromosome
27.6.2003
A rare case of '49,XXXXY' syndrome - X chromosome aneuploidy - which results in multiple malformations and delayed psychomotor development, was discovered in a UAE national boy at birth. The study was carried out to collect data on genetic diseases in the UAE.
The Centre for Arab Genomic Studies (CAGS) project, launched by the UAE Minister of Health last week, aims at identifying disease-causing genes in the Arab population and to develop a database of genetic diseases prevalent in the Arab world.
Although 47,XXX, 47,XXY, 47,XYY and 45,X karyotypes are frequent and occur in at least one in every 400 births, patients with more than one extra sex chromosomes are very rare.
One such case is a three-and-half-year old male patient born to blood-related UAE national parents was referred to the genetics clinic for evaluation for dysmorphic features. He has three normal elder siblings, two females and one male. His mother had two spontaneous abortions in the first trimester.
His antenatal period was uneventful. He was delivered by caesarian section at full term because of foetal distress. The weightage at the time of birth was 1.5kg. He had feeding-difficulty in the neonatal period in view of the cleft palate, in addition to recurrent lower respiratory infections and behavioural disorders.
These clinical findings were consistent with diagnosis for 49,XXXXY syndrome that was confirmed by cytogenetic studies. Chromosomal analyses of both parents were normal.
Among the genetic diseases on which data has been collected in the UAE and which is currently available on the CAGS's online database, are: Down Syndrome, Edwards Syndrome, Klinefelter Syndrome, Patau Syndrome, Ring Chromosome, Thalassemia beta, Turner Syndrome and West Syndrome.
The number of Thalassemia beta cases recorded in the UAE among both local and expatriate populations came to 167, with 31 mutations. Thalassemia is a life-long debilitating genetic disease that results in the body's inability to produce adequate amounts of Hoemoglobin inside the red blood cells.
The result is severe anaemia. Children suffering from this blood disorder require blood transfusions every month of their lives in addition to treatment for iron overload due to the excessive number of transfusions.
Recent studies show that eight to ten per cent of UAE nationals are carriers of the Beta-globin gene located on Chromosome 11 of human DNA. Carriers of this gene, should they marry other carriers, would risk giving birth to children suffering from Thalassaemia Major, a rare but severe anemia that requires regular blood transfusions and treatment for iron overload.
Dr Mahmood Taleb, Chairman of the Emirates Thalassaemia Society (ETS) and Director of the CAGS Executive Committee, pointed to the pressing need to spread awareness about this disease among the general population and encourage people to have pre-marital blood tests as a means to screen carriers of the Beta-globin gene...
Khaleej Times
Arab Genomic Studies Centre Inaugurated
26.6.2003
The Centre for Arab Genomic Studies (CAGS) was officially inaugurated at Al Wasl Hospital in Dubai yesterday. It has been operating for the last eight years. It serves both national and expatriate patients from the UAE and the region. At present, the research budget is about Dh1 million but it will increase in the future. Hamad Abdul Rahman Al Madfa, Minister of Health, who inaugurated the centre said conducting genetic studies on the Arab populations will represent the principal way to address a number of serious diseases.
The centre is established under the directives of Sheikh Hamdan bin Rashid Al Maktoum, Deputy Ruler of Dubai, Minister of Finance and Industry and the patron of the Sheikh Hamdan Award for Medical Sciences, to bring together expertise in human genetics from the Arab world. Recent studies showed that many human diseases have a genetic basis. "In the Arab world, genetic diseases represent a major public health problem due to the high rate of consanguinity and lack of public awareness," he said. The CAGS will be the forum where collaborative research will be fostered and supported. It will also identify and elucidate the genetic basis of diseases.
The centre aimed at raising public awareness on the importance of genetic diseases, identify disease-causing genes and develop database of genetic diseases prevalent in the Arab world. "It is incumbent upon us to cope with the latest scientific developments and have our own contributions. Moreover, Arab scientists must join hands and benefit from each other's experience as well as from the advances made anywhere in this vital field," said Al Madfa.
The centre will also bring together diverse expertise and resources in the field of genetics and related areas and promote understanding between experts and facilitate multi-disciplinary research through supporting highly qualified investigators. It will contribute to preventing genetic diseases by providing comprehensive services by translating research achievements into well-integrated patient treatment programmes. It will cooperate with other research and medical institutions to ensure global access to new findings and technical developments.
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Centre for Arab Genomic Studies
25.6.2003
The Human Genome Project is the latest scientific phenomenon with far reaching implications in the understanding of genetic diseases affecting humankind. A 10-year multinational project was initiated in collaboration with the National Institute of Health (NIH), USA and the European Consortium to sequence the entire Human Genome. The giant project was finished ahead of schedule with the identification of all functional genes.
Under the directives of His Highness Sheikh Hamdan Bin Rashid Al Maktoum, Deputy Ruler of Dubai, Minister of Finance and Industry and the patron of the awards, the members of the Board of Trustees and the General Secretariat are pleased to announce the establishment of the Centre, known as "Centre for Arab Genomic Studies" (CAGS).
We are pleased to announce the official opening of the CAGS office on Wednesday 25 June 2003 at 11:30am, in the Genetic Centre of Al Wasl Hospital, Dubai.
A growing number of human diseases have been found to have a genetic basis. In the Arab world, genetic diseases represent a major public health problem due to the high rate of consanguinity and lack of public awareness. Genetic studies on the Arab populations would represent the principal way to address these diseases. CAGS will be the forum at which collaborative research is fostered and supported, aiming at identifying and elucidating the genetic basis of diseases in the Arab world as well as at supporting preventive approaches to genetic diseases. CAGS is established through an endowment bestowed by His Highness Sheikh Hamdan Bin Rashid Al Maktoum to bring together diverse expertise, in the field of human genetics and related areas, from the Arab world.
Professor Najib Al Khaja is the President of this organisation and Dr. Mahmoud Taleb Al Ali is the Director of the Executive Committee and the members are:
- Prof. Taher El Sharkawy
- Dr. Ayman Saleh
- Dr. Ahmed Al Marzouqi
- Dr. Erol Baysal
- Dr. Tahir A Rizvi
- Dr. Mohammed Naveed
- Dr. Lihadh Al Gazali
- Dr. Mansor Al Zarouni
- Dr. Najat Rashid
The vision of the planners of this Centre is to alleviate human suffering from Genetic Diseases in the Arab World through the work carried out by the centre or by any of its potential collaborators.
The Mission of this Centre is to characterize genetic diseases, prevent their occurence and alleviate suffering from human genetic disorders in the Arab countries based on the recent advances in human genetics and information available from the Human Genome Project.
Objectives
- To raise public awareness on the importance of genetic diseases in the Arab world.
- To identify disease-causing genes in the Arab population and develop a database of genetic diseases prevalent in the Arab world.
- To bring together diverse expertise and resources in the filed of genetics and related areas in the Arab world, promote understanding between experts and facilitate multidisciplinary research through supporting highly qualified investigators.
- To prevent genetic diseases by providing comprehensive genetic services by translating research achievements into well-integrated patient treatment programmes.
- To develop a centre for excellence in Dubai for genetic research and clinical services in the Arab world.
- To address the ethical, legal and social issues that may arise from the project.
- To cooperate with other research and medical institutions to ensure global access to new findings and technical developments.
- To implement the strategies for a financially independent centre through revenue generating approaches.
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