The Al Jawhara Centre for Molecular Medicine & Inherited Disorders
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The Al Jawhara Centre for Molecular Medicine & Inherited Disorders is a center for research, education and diagnosis for molecular medicine and inherited disorders at the Arabian Gulf University in Bahrain.
This was its website for a number of years.
Content is from the site's 2011 archived pages.
If you have inadvertently ended up here while searching for the Al-Jawhara Centre (AJC), their current website is found at: al-jawhara-center.kau.edu.sa
VISION AND MISSION
Al-Jawhara Centre (AJC) is a specialized Centre in Molecular Medicine with a particular interest in Genetics and Inherited Disorders, providing clinical services, molecular diagnostics, and research. It is also an academic institute offering higher education in Molecular Medicine for medical students.
AJC is driven by its clinical and diagnostic services business units. It provides patients and their families with quality genetic care. It also provides data for research, content, teachers, and doctors to its knowledge hub for distribution to outreach partners.
Indeed, the Centre’s vision is to be a leading molecular medicine Centre, uniquely positioned to serve the health needs of the GCC citizens, and globally recognized for excellence in research and development, clinical services, and health education.
OUR OBJECTIVES, GOALS AND STRATEGY
Al-Jawhara Hospital for Fertility Applications and Genetic Diagnosis seeks to establish traditions which will promote creativity and growth of excellence in the line of cell-based therapy.
The Hospital has the following broad objectives:
- Provide the best counselling, evaluation, and treatment options for needy patients to these types of therapies (infertility, pre and post implantation genetic diagnosis and screening).
- Provide the best possible educational and hands-on facilities for training and upgrading collaborators in the technical and clinical fields.
- Provide a creative atmosphere in which higher studies and research thrive both amongst the colleagues, the students, and the faculty.
Organize short intensive courses, conferences, and seminars in collaboration with other leading teams in the world.
AJC aims at:
- providing a broad range of evidence based, integrated, clinical, and diagnostics services in molecular medicine, that meet the needs of the GCC population on a not-for-profit basis;
- raising awareness of genetic diseases and their impact on the health of the individual and of the society, as well as the knowledge of their causes, and methods of diagnosis and treatment;
- providing combined Assisted Reproduction Technologies (ART) and Pre-implantation Genetic Diagnosis (PGD) services to international standards, as well as being a referral Centre of choice from across the region;
- providing access to high quality screening programmes required by the Kingdom of Bahrain’s Ministry of Health, and supporting other public health screening programmes in the GCC;
- providing genetic clinics and genetic counselling services that complement AJC’s clinical and diagnostic services;
- establishing partnerships, affiliations, and collaborations to develop and enhance the Centre’s research capability both regionally and internationally;
- supporting Ph.D. and other graduate programmes in molecular medicine through access to a dynamic research environment and renowned expertise;
- and positioning AJC as a knowledge hub for research and findings in the areas of molecular medicine and related fields, as well as hosting conferences and providing CME opportunities for healthcare professionals.
PHD IN MOLECULAR MEDICINE
Molecular Medicine is a new field that exploits advances in molecular and cellular biology to characterize how normal cellular processes either fail, or subvert in disease. Increasingly, medical practitioners, professionals, and researchers in the health and life sciences need to understand and evaluate advances in molecular medicine in order to keep abreast with developments in their fields.
The PhD in Molecular Medicine, which started in 2006, was established with the aim of offering advanced learning and practical training to:
- Master holders in Medical Sciences planning an academic career in the area of Molecular Medicine;
- Technicians with Ms.C. degree wishing to upgrade their expertise in specialised areas of Molecular Medicine;
- Personnel engaged in the practice of Molecular Medicine, Genetics, and Inherited Disorders, including physicians, who wish to specialize in Molecular Medicine.
- Get theoretical background on the fundamental principles vital to the understanding of molecules that are keys to normal functioning of the body and those related to the deep-seated mechanisms of diseases;
- Conduct mission oriented research that is directed to resolving medical issues via in-depth analysis and investigation rendering to molecular diagnosis;
- Acquire various skills, among them mastering selected techniques for analysis, measurements and manipulation of these molecules to improve diagnosis, treatment, and prevention of diseases, as well expressing scientific findings in oral and written forms producing quality research papers.
Areas of Specialization
The Programme offers specialties in the following areas:
- Molecular Genetics
- Biochemical Genetics
- Molecular Immunology
Methods of Learning
The programme is organised in a semester form where certain courses and research work should be accomplished. The programme deals with a highly specialised part of Medicine that explains the fundamental principles vital to an understanding of:
- Molecules that are key to the normal functioning of the body and those related to the fundamental mechanisms of the diseases;
- Manipulation of these molecules to improve the diagnosis, treatment, and prevention of diseases;
- Human genome and genetic engineering.
Principles are then applied to the diagnosis and treatment of human disease in:
- Gene regulated disorders
- Inherited genetic diseases
- Inborn errors of metabolism
- Infectious diseases
- Immune system and blood cells
- Public health
The technology utilised in the programme includes basic and advanced techniques in Biochemistry, Molecular Biology, Immunology, Cell Biology, Cytogenetics, Imaging technology, and Experimental Models.
A PhD holder in Molecular Medicine will be able to:
- Conduct scientific research investigating a problem in Molecular Medicine, Genetics, and Inherited Disorders, demonstrating his ability to use a sound scientific approach and competence in Molecular Medicine techniques and methods related to his field of research;
- Write scientific papers, grant applications and work independently;
- Teach and supervise undergraduate, graduate students and technical staff;
- Gain administrative responsibilities, which will allow him to develop, supervise and organize a molecular lab.
Students must have a Master in Science prior to enrolment in the PhD programme.
Duration of the Programme
The duration of the programme is 2 – 3 years during which the students study 48 credit-hours inclusive of a PhD thesis which is equivalent to 24 hours
- Successfully complete a minimum of 24 credit hours of course work.
- Carry out a laboratory-based research project, and submit and successfully defend a written thesis (24 credit hours).
The curriculum is organised around 4 - 6 semesters (of 16 weeks duration each). The first semester consists of core courses, while the second semester is devoted to specialised courses. During each semester, the student organizes with the supervisor/s the required courses and the research work, which all spread over the semesters of the academic year.
Topics for the thesis will be decided in consultation with the Director of the PhD programme taking into consideration the students’ interests and ongoing research activities. Thesis work can be partly performed by the student in his/her institution provided that a qualified supervisor is identified and technical facilities are available to carry out the planned experiments. Internal and external examiners evaluate the written dissertation and examine the student orally.
The PhD degree requirements include 24 credit hours of courses and a 24 credit hour thesis to be completed within 2 - 3 academic years (Total = 48 credit hours).
The programme is implemented by a Director and decisions are made by an Academic Committee consisting of members representing the major specialties in the programme.
Course Description for the PhD in Molecular Medicine
A. Core Courses in General Science
B. Basic Courses in Molecular Medicine
C. Specific Courses in Molecular Medicine
D. Molecular Genetics
E. Advanced Specific Courses
IVF PATIENT GUIDE
What is infertility?
Infertility is a condition where a couple fails to have children within a year of marriage and without using any means of contraception. Conception is a complicated process that depends upon many factors: production of healthy sperm by the man and healthy eggs by the woman, normal sperm shape and movement, unblocked fallopian tubes that allow the sperm to reach the egg, ability of the fertilised egg (embryo) to become implanted in the woman's uterus, and a good quality embryo.
A full term pregnancy requires healthy embryo and the normal mother's hormonal environment adequate for embryo development. When any of these factors is impaired, infertility can result.
Infertility is not a "woman's" problem. It is a medical problem of the male or female reproductive system. In about one third of cases, the cause is traced to the woman, another third of cases are traced to the man. The rest are caused by unknown factors or a physiological incompatibility.
Infertility is associated with emotional and social stress. Infertile couples need support and consideration from the treatment team, friends, family, and, of course, from each other.
What is the cause of male infertility and female infertility?
Roughly one-third of infertility cases can be attributed to male factors and another one-third to factors that affect women. For the remaining infertile couples, infertility is caused by a combination of problems in both partners (about 13%) or is unexplained (about 10%).
The most common causes of male infertility include azoospermia (no sperm cells are produced) and oligozoospermia (few sperm cells are produced). Sometimes, sperm cells are malformed or they die before they can reach the egg. In rare cases, male infertility is caused by a genetic disease such as cystic fibrosis or a chromosomal abnormality. It can also be due to immunological causes.
The most common cause of female infertility is an ovulation disorder. Other causes of female infertility include blocked fallopian tubes, polycystic ovary syndrome (PCOS), and endometriosis. Repeated miscarriages may be caused by congenital anomalies (birth defects) involving the structure of the uterus, uterine fibroids, and chromosomal abnormalities in the embryo.
How is infertility diagnosed?
Couples are generally advised to seek medical help if they are unable to achieve pregnancy after a year of unprotected intercourse. The doctor conducts a physical examination of both partners to determine their general state of health and to evaluate physical factors that may be causing infertility. Usually both partners are interviewed about their sexual habits in order to determine whether intercourse is taking place for conception.
If the physician cannot find a cause for infertility at this point, more specific tests may be recommended. For women, these include fertility hormones analysis, checking the patency of fallopian tubes, hysteroscopy of uterus, and sometimes laparoscopy. The male partner is usually requested to have semen analysis on two occasions.
Surgery and hormone therapy can correct some infertility problems. If those methods fail, doctors advise couples to enter an ART programme which may be the best chance and last hope for achieving pregnancy.
The evaluation and treatment of infertility requires a great deal of time, resources, and energy. It also requires the participation of the couple, physicians, nurses, technicians, counsellors, and many others.
How successful are infertility treatments?
Each couple's condition and response to infertility treatment is unique. The answer is difficult to calculate because it depends on several factors: the woman's body, the man's body, the clinic's success rate, and luck. Physiological factors that affect success include the age of the woman, uterine abnormalities, and whether both partners have infertility factors.
Your initial appointment is important as it helps set the agenda for your treatment programme. For most of the couples, the initial consultation includes a semen analysis as this can indicate a number of infertility causes and may let us move directly to specific treatments. This saves time and can eliminate a number of other tests at a later stage. Moreover, because it is a fixed price, it appeals to many couples as an excellent investment in first-stage analysis.
At the initial consultation, we will look at your medical and fertility history, as well as your partner’s one; the male partner may be asked to provide a semen sample at the beginning of the consultation so that the results are available for discussion with the doctor. The female partner will have a physical examination and, in some cases, the male partner may also be examined.
This examination and the semen analysis may help to identify the underlying problem and provide firm guidelines as to the most appropriate treatment, although this is not always the case. The type of treatment the doctor decides for the highly couple depends on the cause of infertility being diagnosed.
More than the usual degree of medical confidentiality covers information about IVF treatment. Except in case of an emergency, the Centre undertaking treatment is not allowed to communicate with others (including GPs) about it, except with the express written permission of the couple concerned. However, information is sometimes given to the couple to pass on to their doctor or to others. Because of this regulation, it may be necessary to obtain written permission to pass on some general details of treatment to hospital and Health Authority staff who may be involved in a peripheral way, and with the administration of its funding. This information would be treated with the same confidentiality as that accorded to other medical information.
Assisted Reproduction Technologies (ART) are a group of technical applications performed in laboratory to help the human egg and sperm to merge and produce an embryo. Due to certain physiological or anatomical difficulties in some couples, the formation of embryo with natural means may not be possible without intervention of these procedures.
In-Vitro Fertilisation (IVF) is one of several ART techniques available to help couples with fertility problems to have a baby. An alternative technique, Intra Cytoplasmic Sperm Injection (ICSI) is used in infertile couples with compromised semen parameters. This procedure is a mandatory application in treating couples presenting genetic problems in order to achieve pregnancy with a healthy baby.
IVF involves surgically removing an egg from the woman's ovaries, treating with fertility drugs, and fertilising it with sperm in the IVF laboratory. The fertilised egg is cultured in suitable conditions and allowed to grow in the embryo lab over a period of 5 days. The developed embryo is assessed morphologically and genetically, if indicated, before being placed back into the woman's womb to grow and develop further.
Indications of Origins
- Absent or damaged Fallopian Tubes
- Male factor infertility
- Age-related infertility
- Polycystic ovarian syndrome
- Unexplained infertility
- Recurrent intrauterine insemination failure
- Tubal and pelvic adhesions
GENERAL INFORMATION ON INFERTILITY
Infertility is a stressful situation for the couple and their families in our societies. The Al-Jawhara Hospital for Fertility Applications and Genetic Diagnosis proposes a professional and a personalised medical service. One of our goals is to propose compassionate and confidential counselling sessions during different phases of treatment, as an integral part of the programme.
The Al-Jawhara Hospital for Fertility Applications and Genetic Diagnosis is located in the main building of the Al-Jawhara Centre for Molecular Medicine, Genetics, and Inherited Disorders, in a convenient area of Manama, and nearby the main AGU university compass, with easy accessibility.
Staffed by highly qualified physicians, trained nurses, and efficient technologists, our facility specialises in assisted reproduction, and is dedicated to the detection of genetic disorders by prenatal and pre-implantation genetic diagnosis and screening.
Working closely with general practitioners and referring specialists, our team proposes a full range of diagnostic and treatment services, covering many areas of reproductive medicine. In addition to helping patients with infertility problems, we also treat patients with hormonal disorders, recurrent miscarriages, and other related problems.
Newborn Screening for Early Diagnosis of Inborn Errors of Metabolism
The Newborn Screening Test
Screening newborns for health problems (congenital disorders) is an established worldwide public health practice. The newborn screening test is performed to detect rare, but serious health problems, often before there is any sign that the problem exists. Early diagnosis and appropriate treatment can greatly reduce and often prevent the risk of mental retardation, as well as often prevent, the effects of the problem for the rest of the child‘s life.
A blood-spot sample is collected either by a nurse in the hospital where the baby was born or parents with a doctor’s request can bring children to Al-Jawhara Centre. To collect the blood, the baby’s heel is pricked, and a small piece of special filter paper is soaked with four small spots of blood, and then allowed to dry. Using advanced technology known as ‘Tandem Mass Spectrometry’, over 49 disorders that could be in 1 out of every 300 babies are detected and reported within 2 days.
We immediately contact the concerned doctors if there is any suggestion of Inborn Errors of Metabolism and refer the child to metabolic specialist pediatricians. A repeat specimen may be required because of a poor sample or for a slightly elevated result.
Inborn errors of metabolism that can be detected in newborn screening include:
AMINO ACID METABOLISM DISORDERS
These are a group of inborn errors of amino acids metabolism (PHENYLKETONURIA, MAPLE SYRUP URINE DISEASE, TYROSINEMIA, UREA CYCLE DISORDERS and HYPERHOMOCYSTEINEMIA). If children are late diagnosed and untreated, high levels of amino acids and their by-products will cause a significant brain damage. Treatment by a special diet after diagnosis started soon after birth allows children to develop normally.
ORGANIC ACID AND FATTY ACID OXIDATION DISORDERS
These include organic academia (ISOVALERIC, PROPIONIC, GLUTARIC and METHYMALANOIC ACIDEMIAS) and fatty acid oxidation disorders (SCAD, MCAD, LCAD, and VLCAD). Newborns with fatty acid oxidation disorders cannot use their stored fat to provide energy during a time of stress, causing the body to use all of its blood sugar instead. This results in low blood sugar levels that can be fatal if not treated. Children with a fatty acid oxidation disorders are generally well unless they have a viral infection (cold or flu) or go for longer than usual between meals, when they may develop a severe problem. Treatment for this group of disorders usually involves a special diet and avoiding prolonged periods of fasting.
If the thyroid gland is not able to produce an adequate amount of thyroid hormone, it is mostly due to the thyroid gland formation (thyroid dysgenesis). If this condition is not diagnosed early after several months, children may have a delay in development and growth. Early detection by newborn screening and treatment with thyroid hormone allow these children to grow and develop normally.
This inherited problem mostly affects the lungs (sticky mucus) and gut (digestion of food). Children with cystic fibrosis are prone to serious chest infections, and have problems digesting and absorbing food, causing serious health issues. The newborn screening test for cystic fibrosis detects 96% of all babies with this disorder. Finding the problem early has been shown to significantly improve the life of children suffering from cystic fibrosis.
Babies with galactosemia cannot break down galactose in the milk. In the body, lactose (one of the main sugars in milk) is normally broken down to galactose and glucose. High levels of galactose can cause major health problems such as cataracts and liver damage. Without treatment, on rare occasions, it can be fatal. A special diet can prevent most of these health problems. Classical galactosemia present in the first few days of life may be fatal without treatment. Signs include poor feeding, vomiting, jaundice and, sometimes, lethargy and/or bleeding. Neonatal E. coli sepsis can occur and is often fatal. Treatment is withdrawal of milk and, if symptomatic, emergency measures.
CONGENITAL ADRENAL HYPERPLASIA
In this disorder, adrenal glands do not function normally. Ambiguous genitalia in females may appear to be male with non-palpable testes. Infants with congenital adrenal hyperplasia are at risk for life-threatening adrenal crises, shock, and death in males and females. Newborn with congenital adrenal hyperplasia will have growth retardation.
In this disorder, newborns are not able to metabolize a vitamin called ‘biotin’. The neonate is usually asymptomatic but episodic hypoglycaemia, lethargy, hypotonia, and mild developmental delay can occur at any time from the neonatal period through childhood. Untreated biotinidase deficiency leads to developmental delay, seizures, alopecia, and hearing deficits. After diagnosis through newborn screening, biotin treatment is available and highly effective.
QUALITY ASSURANCE PROGRAM FOR NEWBORN SCREENING
Newborn Screening laboratory at Al-Jawhara Centre is committed to maintaining the highest level and quality of service. Our Newborn Screening laboratory is part of worldwide Quality Control Programme operated by Center of Disease Control (CDC) and Prevention based in the U.S. The quality assurance programme reports provided by CDC for Al-Jawhara Centre would be available for all doctors, hospitals, and laboratories.
Research at AJC is conducted in close collaboration with the Industry, and meant to be clinically relevant. The strategy of research addresses research collaborations, Biostats & Bioinformatics, Biobank, Research grants & contracts with initial Research Themes on (a) Common GCC genetic disorders, (b) Type 2 diabetes, (c) Endemic cardiovascular diseases, (d) Genetically driven variations in drug metabolism, (e) Genome wide association studies, and (f) Biomarkers.
Within the research themes, a recent discovery was made at the AJC where a novel immune system mediator: a polypeptide which is induced by a nervous stimulus, and which has been found to mediate the transmission of signals between the immune system and the nervous system following an immune challenge. To date, there was no identification of any single or group of molecules that function as mediators between the nervous and immune systems in response to a nervous stimulus following an immune challenge. We have now identified such a molecule, which may be particularly advantageous in further understanding the mechanism for innate immunity commencement and action. Furthermore, such a mediator also offers particular benefits as a potential therapeutic agent for modulating the natural responses in immune system disorders, or in immunosupressed or immunocompromised individuals. In addition, compounds or molecules that inhibit that function of such a mediator may be particularly advantageous as a therapeutic treatment in individuals with an over stimulated immune system. This work has resulted in the following international patent: Immune System Mediator UK, Patent Number: 0703887.0 PCT/EP2008/052399. The data was published by Moiz Bakhiet and Safa Taha: A novel nervous system-induced factor inducing immune responses in the spleen. Imm Cell Biol. 86: 688-699. 2008.
BY YOUR SIDE
PROFESSOR MOIZ BAKHIET, SUDAN/SWEDEN, M.D., PH.D.
CHIEF EXECUTIVE DIRECTOR
Moiz Bakhiet is the Chief Executive Director (Founder) of Princess Al-Jawhara Centre for Molecular Medicine, Genetics, and Inherited Disorders.
DR. MARIAM A.G. DASHTI, BAHRAIN, PH.D.
Dr. Dashti is a senior scientist in the field of In Vitro Fertilization and Pre-Implantation Genetic Diagnosis. She is the managing director of Al-Jawhara Hospital for Fertility Applications and Genetic Diagnosis,
DR. JAMAL GOLBAHAR, U.K., PH.D.
ASSOCIATE PROFESSOR OF CLINICAL AND NEONATAL BIOCHEMISTRY, MANAGING DIRECTOR OF THE DIAGNOSTICS SERVICES
Dr. Jamal Golbahar is an Associate Professor of Clinical and Neonatal Biochemistry in the Department of Molecular Medicine at the College of Medicine and Medical Sciences, AGU, in the Kingdom of Bahrain,
DR. MARIAM FIDA, M.D., PH.D, BAHRAIN / OMAN
PRE-IMPLANTATION GENETIC DIAGNOSIS (PGD) DEPARTMENT SUPERVISOR
After receiving her medical degree (M.D.) from the Arabian Gulf University (AGU) in the Kingdom of Bahrain, Dr. Mariam Fida worked as a surgical resident at the Bahrain Defense force Hospital (BDF).
DR. CRISTINA SKRYPNYK, ROMANIA, M.D., PH.D.
CONSULTANT MEDICAL GENETICS, ASSISTANT PROFESSOR, CYTOGENETICS UNIT IN CHARGE
Dr. Cristina Skrypnyk received her M.D. title in 1996 from the University of Medicine and Pharmacy ‘Gr. T. Popa ‘ Iasi Romania.