Centre for Arab Genomic Studies Sheikh Hamdan Bin Rashid Al Maktoum Award for Medical Sciences
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Publications

Genetic Disorders in Arabs


1 - United Arab Emirates

2 - Bahrain

3 - Oman

3 - Qatar


Genetics Made Easy


1 - Blood Disorders

2 - Cancers

3 - Neonatal Screening


Research Articles


1 - Tadmouri GO. Biomedical science journals in the Arab world. Saudi Med J. 2004; 25(10):1331-6.


2 - Tadmouri GO, Al Ali MT, Al-Haj Ali S, Al Khaja N. CTGA: the database for genetic disorders in Arab populations. Nucleic Acids Res. 2006; 34(Database issue):D602-6.


3 - Naveed M, Al-Ali MT, Murthy SK, Al-Hajali S, Al-Khaja N, Deutsch S, Bottani A, Antonarakis SE, Nath SK, Radhakrishna U. Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred Arab family with an apparent autosomal dominant inheritance and reduced penetrance: clinical and genetic analysis. Am J Med Genet A. 2006; 140(13):1440-6.


4 - Naveed M, Nath SK, Gaines M, Al-Ali MT, Al-Khaja N, Hutchings D, Golla J, Deutsch S, Bottani A, Antonarakis SE, Ratnamala U, Radhakrishna U. Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1. Am J Hum Genet. 2007; 80(1):105-11.


5 - Tadmouri GO, Nair P, Obeid T, Al Ali MT, Al Khaja N, Hamamy HA. Consanguinity and reproductive health among Arabs. Reprod Health. 2009; 6:17.


6 - Tadmouri GO, Nair P. Cancers in Arab populations: concise notes. Hamdan Medical J. 2012, 5(1):79-82.


Abstract Books


1 - 1st Pan Arab Human Genetics Conference

2 - 2nd Pan Arab Human Genetics Conference

3 - 3rd Pan Arab Human Genetics Conference



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Contact Us

Mailing Address:
Centre for Arab Genomic Studies
P.O. Box 22252, Dubai
United Arab Emirates

Telephone: +971-4-398 6 777

Fax: +971-4-398 0 999

E-mail: cags@emirates.net.ae


Genetics Made Easy 3:
Neonatal Screening


Genetics Made Easy 3: Diseases Covered by Neonatal ScreeningAuthors: Alana Kinrich, Abdul Rezzak Hamzeh, Ghazi Omar Tadmouri, and Pratibha Nair


Congenital Adrenal Hyperplasia: Congenital Adrenal Hyperplasia (CAH) is a genetic disorder of the adrenal glands. People with CAH cannot make enough of certain essential hormones, particularly cortisol and aldosterone. At the same time,the body produces an excess of androgens such as testosterone, which can cause male characteristics to appear early or inappropriately. The most common cause ...


Congenital Hyperinsulinism: Congenital hyperinsulinism (also called hyperinsulinemic hypoglycemia) is a disorder of abnormally high insulin levels and the most frequent cause of severe, persistent hypoglycemia-low blood sugar levels-in newborn babies and children. Normally, insulin is secreted by the pancreas in response to high blood sugar levels after eating food. Insulin can then reduce blood sugar...


Congenital Hypothyroidism: The thyroid is a butterfly-shaped gland at the base of the neck. Its function is to make and secrete specific hormones, particularly thyroid hormone (also called thyroxine or T4). Congenital Hypothyroidism (CH) is a condition present at birth in which an infant fails to produce enough thyroid hormone, resulting in a deficiency.There are number of different causes for congenital hypothyroidism...


Cystic Fibrosis: Cystic Fibrosis (CF) is an inherited multi-system disease that primarily affects the lungs and digestive system. CF is caused by a defective gene that creates a protein called cystic fibrosis transmembrane conductance regulator (CFTR). When this protein works normally, it helps regulate the movement of chloride and water within the body. A mutated form of this gene causes the body to produce abnormally thick and sticky fluid...


Homocystinuria: Homocystinuria is an inherited disorder in which the body is unable to properly break down certain building blocks of proteins (called amino acids) from ingested food. There are multiple forms of homocystinuria, which are distinguished by their signs and symptoms and genetic cause. The classical form of homocystinuria is due to a mutation in the CBS gene, which produces an enzyme...


Phenylketonuria: Phenylketonuria (PKU) is a genetic metabolic disorder in which a baby is born without an important enzyme known as phenylalanine hydroxylase (PAH). PAH is necessary to break down an amino acid called phenylalanine, commonly found in most foods, into
certain hormones, neurotransmitters, and melanin. Patients with PKU have little to no PAH, and so they cannot digest and break down phenylalanine. Because phenylalanine is involved in the production of the pigment melanin, patients with PKU tend to have lighter skin, hair, and eyes than their siblings...




Genetic Disorders in the Arab World:
Qatar
(Volume 4, 2012)

Genetic Disorders in the Arab World: Qatar (Volume 4, 2012) "Genetic disorders constitute a serious medical problem worldwide. This is particularly true in the Arab World, where a unique combination of social, cultural, and environmental factors has led to the preponderance of such genetic afflictions. The Centre for Arab Genomic Studies (CAGS) was established in 2003 with the specific aim of dealing with the scourge of genetic ailments affecting the Arab World and to lessen the suffering due to these diseases. In the past seven years, the Centre has planned and implemented several projects, aimed at providing and spreading information on genetic disorders, both to the lay person, as well as medical and genetic professionals.

One of the Centre’s major projects has been the regular publication of its series of books on ‘Genetic Disorders in the Arab World’. So far, we have succeeded in publishing three volumes of this book, each one dealing with the issue of genetic disorders among Arabs in general, and one of the Arab countries, in particular. It is with great pride that I present to you the fourth volume in this series. After the United Arab Emirates, Bahrain, and Oman, we have concentrated on the State of Qatar. The Centre’s work regarding collection of published data on genetic disorders from this country and its curation for the Catalogue for Transmission Genetics in Arabs (CTGA) Database has led to some interesting results. We are only too eager to share these with you.

As always, I cannot find enough words to express my gratitude to our patron, H.H. Sheikh Hamdan Bin Rashid Al Maktoum, Deputy Ruler of Dubai, UAE Minister of Finance, and patron of the Sheikh Hamdan Award for Medical Sciences. It is his vision that led to the establishment of CAGS, and very little could have been accomplished without his constant encouragement. I would also like to record my appreciation and gratitude to the authors who have contributed to this book, especially those from Qatar. Credit is also due to the Executive Board and the Arab Council of CAGS, as well as the office bearers of the Sheikh Hamdan Award for Medical Sciences.

With the completion of its project on Qatar, CAGS has already embarked on its mission on a new Arab country. We hope to be able to present these results to you as soon as they are available. Meanwhile, I wish you a very pleasant and informative reading."


Prof. Najib Al Khaja
President, Centre for Arab Genomic Studies


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Cancers in Arab populations: Concise notes


Tadmouri GO, Nair P.
Centre for Arab Genomic Studies, P.O. Box 22252, Dubai, United Arab Emirates.
    
Hamdan Medical J. 2012; 5:79-82.


Summary
Rapid improvements in the field of health care and dramatic socioeconomic changes resulting in modified lifestyles are believed to have contributed to the increased incidence of cancers in Arab populations.1 For example, the UAE is experiencing a continually increasing proportion of cancer burden, imposing itself as the third leading cause of death after cardiovascular diseases and accidents.2 Very preliminary data from the CTGA (Catalogue for Transmission Genetics in Arabs) database for genetic disorders in Arab populations indicate the presence of at least 55 cancer types in Arab people. Although these types of cancers vary with regard to their incidence and frequency, strong indicators show clearly that cancers of the lung and prostate are the most common among males whereas breast and thyroid cancers are the most common among females in the region.


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Genetics Made Easy 2:
Cancers


Genetics Made Easy 2: CancersAuthors: Ghazi Omar Tadmouri, Pratibha Nair, Tasneem Obeid, and Shirine Gallala


Breast Cancer: Cancer involving the breast is the most common form of cancers in females around the world, affecting approximately one in every 12 women. Like other cancers, breast cancer arises when the cells of the breast lose control over their division and start to invade neighboring tissues. Unfortunately, breast cancer in its early stages is usually asymptomatic...


Cervical Cancer: The cervix is a narrow region at the lower end of the uterus, connecting the rest of the uterus to the vagina. The cervix is a dynamic structure that narrows and stretches throughout each menstrual cycle, and during childbirth stretches to its maximum of up to 10 cm. Malignant growth within the cervix, or cervical cancer, is regarded to be the second most common cancer seen among women, and is also the fifth leading cause of death among women due to cancer...


Colon Cancer: The colon is a part of the large intestine and measures 1.2 meters. The glands lining the inner wall of the colon are the sites for most abnormal cell behavior such as uncontrolled cell growth, which results in polyps (non-cancerous growths) and later on in adenocarcinomas or tumors. The tumors deprive the normal surrounding tissues of nutrients and oxygen and can spread to the lymph nodes in the area and to other organs...


Gastric Cancer: Gastric cancer, or cancer of the stomach, is the fourth most common cause of cancer worldwide, and is also the second most common cause of death caused by cancer. The World Health Organization estimates that stomach cancer is more common in developing than in developed countries. The reducing incidence of stomach cancer in developed countries has been attributed to lifestyle changes, including the intake of diets high in fruits and vegetables, the wide-spread use of refrigeration, and reducing the use of salt as a preservative...


Leukemia: Leukemia is a form of cancer that targets the blood. Blood contains different types of cells such as red blood cells, white blood cells, and platelets. The normal life cycle of these cells (formation, growth, function and death) is controlled in part by the bone marrow...


Lung Cancer: Lung cancer, characterized by uncontrolled growth of cells of the lung, is not only the most common cancer, but also the most common cause of cancer related deaths worldwide. Initial symptoms of lung cancer may include shortness of breath, wheezing, chronic coughing, and/or coughing up of blood. Accumulation of fluid in the lung spaces and development of pneumonia is a further complication...


Thyroid Cancer: The thyroid, one of the largest endocrine glands of the human body, is a butterfly shaped structure located just under the Adam’s apple (a laryngeal prominence featuring at the human neck). Hormones produced by the thyroid gland, T3, T4, and calcitonin, are responsible for maintaining the body’s temperature, metabolic rate, heart rate, blood pressure, and weight. Worldwide incidence levels for thyroid cancer vary from very low in Europe (approx. 2 per 100,000) to the highest in the Hawaiian Chinese population (21 per 100,000)...


Other Cancers: Distribution of Other Cancer Types in Arab States; Basal Cell Carcinoma (Qatar), Basal Cell Nevus Syndrome (Egypt), Becker Nevus Syndrome (Saudi Arabia)...



Genetics Made Easy 1:
Blood Disorders


Genetics Made Easy 1: Blood DisordersAuthors: Ghazi Omar Tadmouri, Pratibha Nair, Tasneem Obeid, and Shirine Gallala


Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency: G6PD is an important element (enzyme) in the glucose oxidation (oxygen utilization) process of red blood cells and for maintaining their normal life span. G6PD deficiency is an inherited disorder caused by a defect or deficiency in the production of that enzyme. Consequently, G6PD deficiency may cause the destruction of RBCs leading to a condition known as hemolytic anemia in which the body cannot compensate for the destroyed cells...


Hemophilia: Hemophilia is the earliest known hereditary bleeding disorder. When injured, hemophiliacs tend to have a slow clotting (coagulation) process because of the lack of necessary blood factors (proteins). Consequently, those patients have prolonged bleeding after injury or surgery...


Sickle Cell Disease: All cells of the human body require a regular supply of oxygen to carry out their basic functions. Red blood cells (RBCs) are instrumental in carrying oxygen to the different parts of the body. This action is mediated by the help of a protein in the RBCs, called hemoglobin, which binds oxygen and transports it throughout the body...


Thalassemia: Thalassemia is an inherited blood related disorder due to absent or reduced production of hemoglobin, a protein present in red blood cells responsible for carrying oxygen through the body. Each red blood cell may contain between 240 and 300 million molecules of hemoglobin. A hemoglobin molecule has two sub-units commonly referred to as alpha and beta...


Thrombophilia: Blood contains many proteins regulating its substance. Some help keep it fluid to avoid blockage or strokes, while others help it to clot or thicken to stop bleeding in cases of wounds and cuts. Platelets are cellular fragments that play an important role in clot formation...




Consanguinity and reproductive health among Arabs


Tadmouri GO, Nair P, Obeid T, Al Ali MT, Al Khaja N, Hamamy HA.
Centre for Arab Genomic Studies, P.O. Box 22252, Dubai, United Arab Emirates.
    
Reprod Health. 2009 Oct 8; 6:17.


Summary
Consanguineous marriages have been practiced since the early existence of modern humans. Until now consanguinity is widely practiced in several global communities with variable rates depending on religion, culture, and geography. Arab populations have a long tradition of consanguinity due to socio-cultural factors. Many Arab countries display some of the highest rates of consanguineous marriages in the world, and specifically first cousin marriages which may reach 25-30% of all marriages. In some countries like Qatar, Yemen, and UAE, consanguinity rates are increasing in the current generation. Research among Arabs and worldwide has indicated that consanguinity could have an effect on some reproductive health parameters such as postnatal mortality and rates of congenital malformations. The association of consanguinity with other reproductive health parameters, such as fertility and fetal wastage, is controversial. The main impact of consanguinity, however, is an increase in the rate of homozygotes for autosomal recessive genetic disorders. Worldwide, known dominant disorders are more numerous than known recessive disorders. However, data on genetic disorders in Arab populations as extracted from the Catalogue of Transmission Genetics in Arabs (CTGA) database indicate a relative abundance of recessive disorders in the region that is clearly associated with the practice of consanguinity.


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Genetic Disorders in the Arab World:
Oman
(Volume 3, 2008)

Genetic Disorders in the Arab World: Oman (Volume 3, 2008)"The field of medical genetics has grown by leaps and bounds in the past few decades. This global trend is mirrored in the Arab World in the increased importance being afforded to genetic disorders and their mitigation in the region, especially since the beginning of this millennium. It is to the advantage of geneticists in the region that several international organizations, including the Human Genome Organisation (HUGO), are now taking an active interest in the genetics of emerging countries.

In 2004, the Centre for Arab Genomic Studies (CAGS) published its first comprehensive book on ‘Genetic Disorders in the Arab World’. Although this book touched on genetic disorders in the entire region, it focused on the spectrum of genetic disorders within the United Arab Emirates. Two years later, a similar book, but with results specifically pertaining to the Kingdom of Bahrain was brought out by the Centre. It is with great pride that I now present the third book in this series, which comes at the end of an intensive data collection and curation process for the Catalogue for Transmission Genetics in Arabs (CTGA) database from the Sultanate of Oman. I would like to mention at this point that with each completed project of the CTGA database, modifications are made to the data collection and curation methodologies. With the Omani project, for the first time, CAGS applied the strategy of having an on-site research assistant stationed in Muscat and working on the database. This was one of the main reasons for the timely completion of the Omani effort, especially considering the volume of work involved in this country. The completion of the Omani project also means that we are now in a position to actively compare data from the three states of the South Eastern Arabian Peninsula, i.e., Bahrain, Oman, and the UAE. Preliminary results of such comparative studies are also presented in this book. With the completion of the Omani project, the CTGA Database Team has now initiated new projects of data collection in other Arab countries. We hope that in a short while, we will be able to present you with results from the State of Qatar.

The publication of this book would not have been possible without the support of H.H. Sheikh Hamdan Bin Rashid Al Maktoum, Deputy Ruler of Dubai and UAE Minister of Finance, who first envisioned the Centre and whose constant encouragement has been a source of great inspiration for all those working at CAGS. I would also like to place on record my appreciation for the members of the Executive Board and the Arab Council of CAGS, especially Dr. Anna Rajab and Prof. Riad Bayoumi, for their contributions to and critical appraisal of this book.

We have tried our best to present a book which captures the essence of genetic studies in the region, and I hope that medical and genetic researchers will find it useful in their studies."


Prof. Najib Al Khaja
President, Centre for Arab Genomic Studies


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Ethical Perspectives of Genetic Applications in the Arab World

Ethical Perspectives of Genetic Applications in the Arab WorldThe entire world and the medical circle in particular, is witnessing a growing interest in all aspects of genetic sciences. New discoveries have been made in recent years and efforts in this field have recently culminated in the drawing of the human genome, thanks to the support rendered by the Human Genome Organisation. Consequently, several discoveries have been made, deciphering the genome of several living organisms, thus revealing many of the secrets surrounding the makeup of human beings as well as of numerous other living organisms. This has enhanced man’s ability to determine the causes of numerous diseases within his own genetic structure.

Such remarkable advances have increased nations’ interest in this immensely rich science so that they may not lag behind, especially in view of the possible manipulation of genes in unethical ways and for unethical purposes. They have also recognized the need to set forth sound legal controls in this area in light of the daily breakthroughs made in this discipline at both the regional and global level.

Genetic applications also have an impact on the economic sector, especially in sectors that involve the production of genetically modified crops, the production of medicines, the management of genetic diseases, and the uses of IVF and its application. We should not forget that genetics also plays an important role in determining the human physical and behavioral characters, such as skin color, intelligence, aggressiveness, and others. All these reasons led to nations’ interest in this field to reach such high levels that budgets are allocated and new institutes are built to train competitive scientists. The best evidence testifying to this is the fact that the many of the Nobel Prize winners in medicine were won by scientists engaged in genetic sciences.

In 2003, with limitless support from H.H. Sheikh Hamdan Bin Rashid Al Maktoum, Deputy Ruler of Dubai and UAE Minister of Finance, the Centre for Arab Genomic Studies (CAGS) was founded. Its objective include the promotion of interest in all forms of genetic sciences. It is unfortunate that genetic diseases occur at high incidence in the Arab World. It is high time that such diseases receive due attention.

In spite of the short time that has passed since its establishment, CAGS has made great accomplishments. We are proud that it has managed to bring to the limelight the prevalence of genetic diseases in our region, and has thus enhanced awareness of this serious problem at organizational and individual levels. The Centre has also managed to establish and maintain ties with prestigious Arab and international institutes and organizations in this sphere. The 2nd Pan Arab Human Genetics Conference is one such example of collaboration between the Centre and the Dubai Islamic Affairs and Charitable Activities Department. This conference was distinguished by a discussion on the ethical aspects of genetic research and was graced by the presence of Arab and world scientists, doctors, jurists and Islamic scholars and charity officials, who strived to set forth scenarios and formulas for handling fresh findings in the field of genetics. This book represents the outcome of these endeavors. This accomplishment is only the beginning of such activities in this field and stems from effective collaboration between Arab scientists and their colleagues in Arab and international organizations. Such collaborations will receive all support from CAGS, because the Centre believes that research in the field requires the consideration of rules and principles regulating these activities that form the framework of our society and beliefs.

Prof. Najib Al Khaja
President, Centre for Arab Genomic Studies


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Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1


Naveed M, Nath SK, Gaines M, Al-Ali MT, Al-Khaja N, Hutchings D, Golla J, Deutsch S, Bottani A, Antonarakis SE, Ratnamala U, Radhakrishna U.
Centre for Arab Genomic Studies, P.O. Box 22252, Dubai, United Arab Emirates.
    
Am J Hum Genet. 2007 Jan; 80(1):105-11.


Summary
Split-hand/foot malformation with long-bone deficiency (SHFLD) is a rare, severe limb deformity characterized by tibia aplasia with or without split-hand/split-foot deformity. Identification of genetic susceptibility loci for SHFLD has been unsuccessful because of its rare incidence, variable phenotypic expression and associated anomalies, and uncertain inheritance pattern. SHFLD is usually inherited as an autosomal dominant trait with reduced penetrance, although recessive inheritance has also been postulated. We conducted a genomewide linkage analysis, using a 10K SNP array in a large consanguineous family (UR078) from the United Arab Emirates (UAE) who had disease transmission consistent with an autosomal dominant inheritance pattern. The study identified two novel SHFLD susceptibility loci at 1q42.2-q43 (nonparametric linkage [NPL] 9.8, P=.000065) and 6q14.1 (NPL 7.12, P=.000897). These results were also supported by multipoint parametric linkage analysis. Maximum multipoint LOD scores of 3.20 and 3.78 were detected for genomic locations 1q42.2-43 and 6q14.1, respectively, with the use of an autosomal dominant mode of inheritance with reduced penetrance. Haplotype analysis with informative crossovers enabled mapping of the SHFLD loci to a region of approximately 18.38 cM (8.4 Mb) between single-nucleotide polymorphisms rs1124110 and rs535043 on 1q42.2-q43 and to a region of approximately 1.96 cM (4.1 Mb) between rs623155 and rs1547251 on 6q14.1. The study identified two novel loci for the SHFLD phenotype in this UAE family.


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Genetic Disorders in the Arab World:
Bahrain
(Volume 2, 2006)

Genetic Disorders in the Arab World: Bahrain (Volume 2, 2006)"Genetic disorders have a significant impact on society. The vast majority of such disorders are serious, for the moment none are curable, and relatively few are amenable to satisfactory management. The Arab World, due to its geography as well as its social customs, has gained a very unique position in terms of its genetic background. For instance, the wide-spread custom of relative marriages has led not only to a preponderance of genetic disorders in the region, but also to the presence of many genetic defects seen nowhere else in the world. A very large proportion of the population is affected by serious genetic defects. Added to this, the general lack of public awareness makes for a very grave state of affairs.

The Centre for Arab Genomic Studies came into being in 2003, under the aegis of the Sheikh Hamdan Bin Rashid Al Maktoum Award for Medical Sciences, with the intent to better understand the spectrum of genetic disorders afflicting the Arab population. The First volume of the book “Genetic Disorders in the Arab World”, served to present the situation of genetic disorders, from the perspective of the United Arab Emirates. Since the publication of the book a couple of years ago, CAGS, with the help of its online ‘Catalogue for Transmission Genetics in Arabs’ (CTGA) database, has been able to reveal almost all the genetic disorders prevalent in the UAE. This, in itself, is a great step forward. However, CAGS has now started working on a new country, the Kingdom of Bahrain. This Second volume of the book, therefore, aims to provide an update on the situation of genetic disorders in the UAE, as well as an overview of genetic disorders and genetic research undertaken in Bahrain.

Words would fail to express the gratitude of the Centre towards H.H. Sheikh Hamdan Bin Rashid Al Maktoum, for his constant encouragement and support, which has been instrumental in the great output of work that the Centre has produced in the past two years, and consequently in the release of this book. Thanks are also due to the Members of the Board of Trustees and the General Secretariat of the Sheikh Hamdan Award for Medical Sciences, Members of the Executive Board and the Arab Council of CAGS, as well as authors who contributed to this book, for their invaluable guidance and support. I hope that this book goes a long way, not only in spreading awareness of genetic disorders in the Arab World, but also in allying geneticists and medical professionals working on such disorders among the Arab population."


Prof. Najib Al Khaja
President, Centre for Arab Genomic Studies


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A Pocket Guide on Genetic Blood Disorders


G-6-PD Hemophilia Leukemia Sickle Cell Disease Thalassemia Thrombophilia

The Centre for Arab Genomic Studies (CAGS) has decided to address the public with a collection of pocket guide leaflets on genetic blood disorders common to the region. Each of these leaflets provides a general description of an inherited blood disorder, along with its symptoms and major characteristics, and follows it up with causes and risk factors, diagnosis and management of the disease. Also provided in each leaflet is information on studies undertaken in the Arab world on the disease. The leaflets are freely available at the office of CAGS and also downloadable from the website in PDF format to allow a more global benefit. This collection of leaflets on blood disorders is the first in a series of several such collections to be released by CAGS in the near future, each dealing with a specific group of genetic disorders prevalent among Arabs.

  • Glucose-6-Phosphate Dehydrogenase Deficiency: G6PD deficiency is an inherited disorder caused by a defect or deficiency in the production of an important red blood cell enzyme called G6PD. G6PD is an important element for the glucose oxidation (oxygen utilization) process of red blood cells (RBCs) and for maintaining their normal life span. Consequently, G6PD deficiency may cause the sudden destruction of premature RBCs leading to hemolytic anemia since the body cannot compensate for the destroyed cells. In this condition, the patient may show jaundice (pallor, yellowing of the skin, and discoloration of the eyes), dark urine, fatigue, shortness of breath, and a rapid heart rate. Many patients, however, remain asymptomatic...
  • Hemophilia: Is the earliest known hereditary bleeding disorder. When injured, hemophiliacs tend to have a slow clotting (coagulation) process because of the lack of necessary blood factors (proteins). Consequently, those patients have prolonged bleeding after injury or surgery...
  • Leukemia: It is a well-known fact that white blood cells (WBCs) form an important defense line in the body against foreign elements. The number and quality of newly formed WBCs is controlled in the bone marrow and leukemia results when this control is disturbed. Due to over production of abnormal white blood cells, the other blood cells produced by the bone marrow (red blood cells, platelets, and normal WBCs) will be outnumbered. If leukemia is not treated early, abnormal cells enter the bloodstream and consequently invade many organ systems like lymph nodes, spleen, liver, and the central nervous system...
  • Sickle Cell Disease: All cells of the human body require a regular supply of oxygen to carry out their basic functions. Red Blood cells (RBCs) are instrumental in carrying oxygen to the different parts of the body. This action is mediated by the help of a protein in the RBCs, called hemoglobin, which binds oxygen and transports it throughout the body. Normally, RBCs are smooth and shaped like a doughnut and are able to easily pass through the narrowest blood vessels...
  • Thalassemia: Is a genetic blood-related disorder due to absent or reduced production of hemoglobin, a protein responsible for carrying oxygen to the tissues. Each red blood cell may contain between 240 and 300 million molecules of hemoglobin. A hemoglobin molecule has two sub-units commonly referred to as alpha and beta. Both sub-units are necessary to bind oxygen and deliver it to cells and tissues in the body. The alpha globin gene cluster controls the production of alpha chains, and similarly the beta globin gene cluster produces beta chains. A lack of a particular subunit determines the type of the resulting thalassemia (alpha or beta)...
  • Thrombophilia: Blood contains many proteins that either inhibit the formation of a clot or act to dissolve it. Platelets are cellular fragments that play an important role in clot formation. The balance between clot formation and clot breakdown in blood vessels is normally very efficient in preventing the development of a blood clot (thrombus) in the circulation. If this balance is impaired, as in the case of excess clotting (coagulation), the signs and symptoms of thrombophilia will result...

The Catalogue for Transmission Genetics in Arabs (CTGA) Database:
A User's Guide


The Catalogue for Transmission Genetics in Arabs (CTGA) Database: A User's GuideThis user’s guide on the CTGA database is an effort to simplify the database, its structure, and function for the end-user. This book is organized into stand-alone topics related to bioinformatics, the development of the CTGA database, mining of information from the database, as well as 2:21 PM 15.04.2010submission of data to CTGA. Many practical examples have been incorporated in order to make it simpler to understand the various search options available. Also attached are appendices, by way of further explanation, that provide a few examples of the records present in the CTGA database. For readers new to the field of databases, the best way to benefit from this guide is to simply read each chapter in order; however, because each chapter is written as a stand-alone module, readers interested in, for example, data-mining techniques can go directly to Chapter 3. In addition, readers who want to delve deeper into bioinformatics are encouraged to refer to the list of suggested reading material listed towards the end of this guide.


Authors: Ghazi Omar Tadmouri, Pratibha Nair, and Abeer Fareed


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  • Preface and Contents (1 Mb)
  • Chapter 1. The Internet, Genetics, and Databases (247 kb)
  • Chapter 2. CTGA: The Database for Genetic Disorders in Arabs (806 kb)
  • Chapter 3. A Primer for Data Mining in the CTGA Database (687 kb)
  • Chapter 4. Guidelines for Data Submission to the CTGA Database (151 kb)
  • Suggested Reading (73.8 kb)
  • Appendix 1. Excerpts from CTGA Database Static (N.B.: Link refers to CTGA Static webpage for extensive examples in PDF Format)
  • Appendix 2. The CTGA Database Information Submission Form (N.B.: Microsoft Word format)


Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred Arab family with an apparent autosomal dominant inheritance and reduced penetrance: clinical and genetic analysis.


Naveed M, Al-Ali MT, Murthy SK, Al-Hajali S, Al-Khaja N, Deutsch S, Bottani A, Antonarakis SE, Nath SK, Radhakrishna U.
Centre for Arab Genomic Studies, P.O. Box 22252, Dubai, United Arab Emirates.
    
Am J Med Genet A. 2006 Jul 1; 140(13):1440-6.


Summary
Ectrodactyly with aplasia of long bones syndrome is one of the most recognizable defects involving the extremities. We have studied a very large eight-generation consanguineous Arab family from the United Arab Emirates (UAE) with multiple severe limb anomalies resembling this condition (OMIM; 119100), for which the affected gene is unknown. The pedigree consists of 145 individuals including 23 affected (14 males/9 females) with limb anomalies. Of these, 18 had tibial aplasia (TA) usually on the right side. The expression of the phenotype was variable and ranged from bilateral to unilateral TA with ectrodactyly and other defects of the extremities. The mode of inheritance appears to be autosomal dominant with reduced penetrance. There were 10 consanguineous marriages observed in this pedigree. This could suggest possible pseudodominance due to high frequency of the mutant allele. Candidate loci for the described syndrome include GLI3 (OMIM: 165240) on 7p13, sonic hedgehog; (OMIM: 600725) on 7q36, Langer-Giedion syndrome (OMIM: 150230) on 8q24.1 and split-hand/foot malformation 3 (OMIM: 600095) on 10q24. In addition, bilateral tibial hemimelia and unilateral absence of the ulna was previously observed to co-segregate with deletion of 8q24.1. Two-point linkage and haplotype analyses did not show the involvement of the above regions in this family.

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CTGA: the database for genetic disorders in Arab populations


Tadmouri GO, Al Ali MT, Al-Haj Ali S, Al Khaja N.
Centre for Arab Genomic Studies, P.O. Box 22252, Dubai, United Arab Emirates.
    
Nucleic Acids Res. 2006 Jan 1; 34 (Database issue): D602-6.


Click to download PDF of 'CTGA: the database for genetic disorders in Arab populations'Summary
The Arabs comprise a genetically heterogeneous group that resulted from the admixture of different populations throughout history. They share many common characteristics responsible for a considerable proportion of perinatal and neonatal mortalities. To this end, the Centre for Arab Genomic Studies (CAGS) launched a pilot project to construct the 'Catalogue for Transmission Genetics in Arabs' (CTGA) database for genetic disorders in Arabs. Information in CTGA is drawn from published research and mined hospital records. The database offers web-based basic and advanced search approaches. In either case, the final search result is a detailed HTML record that includes text-, URL- and graphic-based fields. At present, CTGA hosts entries for 692 phenotypes and 235 related genes described in Arab individuals. Of these, 213 phenotypic descriptions and 22 related genes were observed in the Arab population of the United Arab Emirates (UAE). These results emphasize the role of CTGA as an essential tool to promote scientific research on genetic disorders in the region. The priority of CTGA is to provide timely information on the occurrence of genetic disorders in Arab individuals. It is anticipated that data from Arab countries other than the UAE will be exhaustively searched and incorporated in CTGA (http://www.cags.org.ae).

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Genetic Disorders in the Arab World:
United Arab Emirates
(Volume 1, 2004)



Genetic Disorders in the Arab World: United Arab Emirates (Volume 1, 2004) "...The present book is one of the first publications of the Centre for Genomic Studies and is a valuable contribution to the international scientific community. The book includes the results of lots of research conducted in the United Arab Emirates by renowned authors in the fields of medicine, healthcare, and genetics. While the book delineates the status of genetic disorders in the Arab World, it also includes special extensive reviews on the occurrence of genetic disorders in the population of the United Arab Emirates. Along with the public release of its electronic database “Catalogue for Transmission Genetics in Arabs”, this book represents an initial step for the Centre for Arab Genomic Studies towards producing a series of future publications that will discuss in detail the different aspects of genetic disorders in other Arab countries..."


Prof. Najib Al Khaja
President, Centre for Arab Genomic Studies


Contents



Biomedical science journals in the Arab world


Tadmouri GO
Centre for Arab Genomic Studies, P.O. Box 22252, Dubai, United Arab Emirates.
    
Saudi Med J. 2004; 25(10):1331-6.


Summary
Medieval Arab scientists established the basis of medical practice and gave important attention to the publication of scientific results. At present, modern scientific publishing in the Arab world is in its developmental stage. Arab biomedical journals are less than 300, most of which are published in Egypt, Lebanon, and the Kingdom of Saudi Arabia. Yet, many of these journals do not have on-line access or are indexed in major bibliographic databases. The majority of indexed journals, however, do not have a stable presence in the popular PubMed database and their indexes are discontinued since 2001. The exposure of Arab biomedical journals in international indices undoubtedly plays an important role in improving the scientific quality of these journals. The successful examples discussed in this review encourage us to call for the formation of a consortium of Arab biomedical journal publishers to assist in redressing the balance of the region from biomedical data consumption to data production.

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