Ask the expert: medical geneticists
Clinical geneticists
Dr. Loutradi A. Anagnostou
Dr. Loutradi Anagnostou was born in Athens, Greece in 1945. She graduated from the Medical School, of Athens University in 1969. She proceeded to specialize in Internal Medicine in 1973 and in Haematology in 1978, at the same time serving as a senior resident for a period of five years (1975 to 1980). She then completed her doctoral thesis at the University of Athens in 1977. She served as Director of the Unit for the Prevention of Thalassaemia during the years 1985-1986. Director of the Haematological Department of "Laikon" Hospital from 1986-1990. She was Director of the National Centre for Thalassaemia, including the Units of Prevention, Prenatal Diagnosis and Patient Care, during the years 1990 to 2006. Moreover, she has been the Director of the WHO Collaborating Centre for Community Control of Hereditary Diseases during the years 1988-2006. She was the President of the Hellenic Society of Haematology from 2002 to 2004. At the present time she is:
- President of the National Blood Transfusion Centre of Greece since 2010.
- President of the Committee for Thalassaemia of the Central Council of Health (Ministry of Health, Welfare, and Social Security), since 2000.
- Genetic Counsellor of Genomic Resource Centre, since 2000.
- Vice President of the Hellenic Foundation of Haematology Association since, 2005.
Dr. Arnold L. Christianson
arnold.christianson@nhls.ac.za
Arnold Christianson received his medicinal training at the Godfrey Huggins College of Medicine, University of Zimbabwe, qualifying MBChB (Birmingham) in 1974. After working for a few years in Zimbabwe, including a period as a general medical officer in rural hospitals, he trained in paediatrics at the Red Cross Children’s Hospital, Cape Town, South Africa, and obtained his MRCP (UK) in 1981. He was elected a Fellow of the Royal College of Physicians of Edinburgh in 1998. He practised paediatrics as a lecturer and specialist at the University of Cape Town in 1983 before entering private practice for six years. In 1990 he returned to academic paediatrics, working in the field of neuro-developmental paediatrics, at the University of the Witwatersrand, Johannesburg, before moving into the field of medical genetics. He is currently Professor and Head of the Division of Human Genetics, National Health Laboratory Service and University of the Witwatersrand, Johannesburg. His main research interests included the global epidemiology and burden of disease of birth defects, community genetics and the development of appropriate medical genetic services, including those needed at primary health care level, for developing countries. He has published and lectured, in many countries, on these topics and has advised some governments on community genetics and the development of their medical genetic services. He is a member of the World Health Organization’s expert advisory panel on Human Genetics, and has been involved with WHO since 1999 in developing international policy related to medical genetics and medical genetic services.
Dr. Victor B. Penchaszadeh
Dr. Penchaszadeh is a medical geneticist with extensive international experience in genetics and public health, ethical and social issues in genetics, and genetic services in developed and developing countries. He graduated from medical school in Argentina, and then did postgraduate trainings in pediatrics (Buenos Aires), medical genetics and public health (Johns Hopkins University, USA) and bioethics (Columbia University, USA). He worked for many years in the United States, where he became Professor of Genetics and Public Health in the Department of Epidemiology of the Mailman School of Public Health of Columbia University and Head of a WHO Collaborating Center in Community Genetics. He has served as consultant in medical genetic services to the Pan American Health Organization and the World Health Organization, where he has chaired several expert meetings and consultations and is a member of the Expert Advisory Panel in Human Genetics. In 2007 he returned to Argentina where he teaches in several academic institutions and serves as a senior consultant in genetics and public health and the ethical, legal and social issues in genetics for the Ministries of Health and of Science and Technology, while at the same time keeping his faculty appointment at Columbia University. Dr. Penchaszadeh is active in the fields of education in genetic services and bioethics in Latin America and other regions of the world. He is currently the president of the Latin American Bioethics Network of UNESCO. His main interests are the research on public policies for the appropriate and balanced use of genomic knowledge and environmental influences in the prevention and management of disease, within the frameworks of the right to health and the imperative to reduce inequities in global health.
Dr. Madhulika Kabra
Dr. Madhulika Kabra obtained her MBBS and MD in Paediatrics from Sawai Man Singh Medical College, Jaipur. She has received several gold medals throughout her illustrious academic career. She joined as faculty AIIMS in 1993 . She received prestigious Heinz Fellowship of British Paediatric Association in 1996 and trained in St Mary’s Hospital, Manchester. She is currently the Additional Professor and Officer-in-charge of Genetics Division, Department of Paediatrics, AIIMS, New Delhi. The Genetic Division is a WHO collaborating centre and DBT program support centre for training and research in genetic medicine. Her special interests are dysmorphology and inborn errors of metabolism.
She is a member of Member of the Board of directors of Asian Society for Inherited Metabolic Diseases, member Task force for Inborn Metabolic Disorders - ICMR , India, member, Editorial Board of Indian Journal of Paediatrics, member, Executive Committee member of Delhi society of Prenatal Diagnosis and therapy and Secretary, Indian society of Inborn Errors of Metabolism. She is heading various research projects including molecular pathology of idiopathic mental retardation, rapid prenatal detection of aneuploides, non-invasive prenatal diagnosis of common single gene disorders, identification of novel genes for non-syndromic hearing loss, newborn screening of CAH and CH, enzyme replacement for Type I Gaucher Disease. She has authored about 200 publications in reputed national and international journals and has written more than 25 chapters in various books.
Professor Helen Dolk
Helen Dolk is Professor of Epidemiology and Health Services Research at the University of Ulster, Northern Ireland. She previously held posts at London School of Hygiene and Tropical Medicine, and the University of Louvain, Belgium. She has been Project Leader of EUROCAT: European Surveillance of Congenital Anomalies (www.eurocat.ulster.ac.uk) since 1999. The Central Registry of EUROCAT at the University of Ulster is a WHO Collaborating Centre for the Epidemiologic Surveillance of Congenital Anomalies. Her main research interests are perinatal epidemiology (including the epidemiology of congenital anomalies and cerebral palsy) and environmental epidemiology. She has particular expertise in the use of congenital anomaly registers for research, and in investigating the environmental (rather than genetic) component of congenital anomaly aetiology.
Dr. Bernadette Modell
Bernadette Modell started her academic life in 1952 as a biologist with a particular interest in genetics, embryology and anthropology. She had the great good fortune to study for her PhD in Cambridge when the science of molecular biology was in its earliest exciting stages. She went on to study medicine, in order to explore the role of genetics in human health. Her present interest in public health aspects of medical genetics arose from a lifetime’s work on haemoglobin disorders, and in collaboration with WHO she developed the concept of "community genetics”. Her present focus is on genetics in primary care.
Dr. Shaikha Al Arrayed
Dr. Al Arrayed is a Consultant, Clinical Geneticist and Head of Genetic Department, Salmaniya Medical Complex, Kingdom of Bahrain since 1994. She graduated as a physician from Cairo university and did her Master’s in Human and clinical Genetics, from London University in 1984. She then did her Ph.D. in Genetics from Aberdeen University, Scotland, United Kingdom in 1993. She is presently the Coordinator of the National Committee for the control of hereditary diseases in the Ministry of Health, a member of WHO Expert Advisory Panel on Human Genetics. Her other memberships include American Society of Human Genetics, the European Society of Human Genetics, American college of Medical genetics, the Human Genome Organization (London) and the committee for studying Genetic diseases in the Arab world, Arab Health Ministers council. In addition to this she is a member of the Committee for Genetic Counselling, GCC Health Ministers council since 1993. She is Assistant Chief Editor at Bahrain Medical Bulletin since 1999. Dr Al Arrayed is the founding member of various societies such as Bahrain National Hereditary blood diseases society, Bahrain Child development Society and Bahrain Down's syndrome society. She has organized and directed many National projects including Premarital Counselling services in Bahrain (1992-2003)and Student screening for Genetic Blood diseases 1999-2003 in Ministry of Health, Ministry of Education and Bahrain Hereditary anaemia society. She has established and directed Bahrain Birth Defect Register project since 1999 and also the New Born Screening project 2002. She has participated in more than 130 international and national conferences and published nearly 50 publications in international and national journals, 6 health education booklets, and three books on Heredity and Genetic blood diseases. Her main interests are in community and clinical genetics as well as genetic testing.
Professor Olu O. Akinyanju
Professor Olu Akinyanju attended medical school in London and stayed on in Britain to receive specialist training and qualifications in internal medicine before returning to Nigeria to work in the Lagos University Teaching Hospital where he became involved in the running of a general haematology clinic. This exposed him to many patients with sickle cell disorder and he proceeded to separate them, for better care, into a dedicated sickle cell clinic which he created. His encounter with them induced his travel to Toronto, Canada for formal training in haematology. On return, he wrote a Doctor of Medicine thesis on “Bacterial Infection in Sickle Cell Disease in Lagos” and tackled the total absence of programs for people with sickle cell disorder in the community and soon resuscitated the Sickle Cell Club a patient/parent support and advocacy NGO in 1984 and organized an International Symposium on Sickle Cell Disorder in Lagos in 1985. This was followed by regular training courses on genetic counselling from 1986 and the introduction of prenatal diagnosis in 1993 and other training, awareness and clinical programmes. In 1991, he founded the Federation of Sickle Cell Clubs of Nigeria (FESCCON) for mutual support and harmonization. For the same reasons he co-founded in 1996, the Federation des Association contre la lutte de la depranocytose en Afrique (FALDA) to link the sickle cell NGOs in 13 West African countries.
The need to develop a dedicated National Sickle Cell Centre in order to intensify and extend the coverage of beneficial programs, build capacity, promote research and ensure sustainability soon became clear and he founded the Sickle Cell Foundation Nigeria in 1994 for this purpose. The National Sickle Cell Centre, the first comprehensive sickle cell centre in Africa, was commissioned by the President of the Federal Republic of Nigeria in 2007 and can be found at the website below. He has made numerous publications and presentations on sickle cell disorder and he is a member of WHO expert committee on hereditary disease and has advised the WHO on the introduction of sickle cell programming in developing countries.
Dr Muin. J. Khoury
Dr. Khoury is the founding director of the CDC's Office of Public Health Genomics. The Office was formed in 1997 to assess the impact of advances in human genetics and the Human Genome Project on public health and disease prevention. CDC's Office of Public Health Genomics serves as the national focus for integrating genomics into public health research and programs for disease prevention and health promotion. Dr. Khoury has developed a number of successful ongoing national and international initiatives to translate advances in genomics and related technologies to recommendations and actions that improve health and prevent disease throughout the life stages. Examples of collaborative initiatives that Dr. Khoury started are the Human Genome Epidemiology Network (HuGENet), the Evaluation of Genomic Applications in Practice and Prevention initiative (EGAPP™ ), and the Genomic Applications in Practice and Prevention Network (GAPPNet™). Since 2007, Dr. Khoury has served NCI as a senior consultant in Public Health Genomics. He has helped integrate public health genomics research into the Division’s research portfolio, such as comparative effectiveness research in genomics and personalized medicine.
Dr. Khoury received his B.S. degree in Biology/Chemistry from the American University of Beirut, Lebanon and his medical degree and Pediatrics training from the same institution. He received a Ph.D. in Human Genetics/Genetic Epidemiology and training in Medical Genetics from Johns Hopkins University. Dr. Khoury is board certified in Medical Genetics.
Dr. Khoury received the Public Health Service Special Recognition Award in 1990 for his outstanding contribution to the scientific literature in the areas of birth defects and genetic epidemiology. In 1994, he received the Arthur Fleming Award for outstanding government service. In 1998, Dr. Khoury was credentialed for the Senior Biomedical Research Service for outstanding contributions to public health. In 2000, he received the CDC Research Honor Award for outstanding national leadership in genetics and public health. In 2005, he received the National Cancer Institute visiting scholar award for leadership and vision in genetic epidemiology and public health.
Dr. Khoury has published extensively in the fields of genetic epidemiology and public health genetics. He has over 400 scientific publications including articles, books and book chapters. In 1993, he published a textbook entitled: "Fundamentals of Genetic Epidemiology". In 2000, he was the lead editor for the book entitled: "Genetics and Public Health in the 21st Century: Using Genetic Information to Improve Health and Prevent Disease". His 2004 book entitled "Human Genome Epidemiology" illustrates the applications of epidemiologic methods and approaches to the continuum of genomic information from research to practice. In 2010, he published a completely updated second edition of "Human Genome Epidemiology".
Dr. Khoury is a member of many professional societies and serves on the editorial boards of several journals. He is a frequent keynote speaker at many academic institutions, professional organization meetings, as well as state, regional, national and international conferences. He also serves on several scientific, public health, and health policy national and international committees. He is an adjunct professor in the Departments of Epidemiology and Environmental and Occupational Health at Emory University Rollins School of Public Health and an associate in the Department of Epidemiology at Johns Hopkins University Bloomberg School of Public Health.