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Woman of Science

Habiba Bouhamed Chaabouni has devoted her medical and research career to improving conditions for children and families affected by genetic disorders in Tunisia. A pioneer in her country, she has fought for over 20 years to get medical genetics recognized as an essential discipline, in terms of both research and medical training.

As a young student, Habiba Bouhamed Chaabouni spent many days weighing out the pros and cons between medicine and chemistry for her university studies. Only after much thought and deliberation did she finally set upon her chosen career in medicine, and qualified as a medical doctor in 1977.

However, during her time as a medical student in the Paediatrics Department, she became aware of the difficulties faced by families with children suffering from genetic diseases such as â-thalassemia and Down's Syndrome, and the poor quality of care they received. The revelation was to define the rest of her career path. The problem of appropriate medical care for patients with genetic disorders is particularly relevant in Tunisia. The country has one of the world's highest rates of consanguineous marriages, and as a result, a high prevalence of genetic disorders.

In an epidemiological study undertaken by her in Northern Tunisia in 1983, Professor Chaabouni realised that a quarter of marriages there take place between first cousins and that this rate has remained unchanged over recent generations. Many genetic disorders are recessive and result from the inheritance of two copies of an identical gene mutation. Cousins are more likely to inherit an identical mutation because they share one set of grandparents, one of whom might carry a mutation that could be passed on to their children and grandchildren. A recessive disorder in a child born of a consanguineous marriage raises the possibility that other members of the family are unaffected carriers of the mutation and risk having affected children.

Early on in her career, Habiba Bouhamed Chaabouni realized the importance of genetic counseling as the best way to manage hereditary disease in Tunisia. For over a decade, she has worked towards putting in place the infrastructure necessary to make this a reality - training clinicians in diagnostic techniques for genetic disorders, developing genetic counseling facilities and establishing modern laboratory equipment to ensure accurate diagnoses, despite the difficulties of the social and economic context. In 1981, genetic counseling was offered for the first time to Tunisian patients and their families, and in 1993, thanks to her persistence and hard work, the first Medical Genetics Department in Tunisia was inaugurated, including an outpatient clinic, a cytogenetics laboratory and a molecular biology laboratory. Since then, over 40,000 people have been referred there for genetic counseling or prenatal diagnosis.

Professor Bouhamed Chaabouni has made important contributions to the reform of medical training in Tunisia, ensuring that all medical students receive some teaching in medical genetics and she was behind an initiative aimed at providing physicians across Tunisia with practical training in genetic disorders, genetic counseling and prenatal diagnosis. She has also done much to educate the general public in her country about the prevention of genetic diseases, and has promoted genetic
counseling through media awareness campaigns.

Despite having limited access to high-level scientific facilities in the early years of her career, Professor Bouhamed Chaabouni made significant contributions to medical genetics research, identifying and describing new mutations in disorders such as congenital adrenal hyplasia, familial Mediterranean fever and X-linked cleft palate. She strongly defends the importance of linking medicine and research.

Like the scientists she admires, whether historical figures like the 19th century French physiologist Claude Bernard or contemporary researchers such as French geneticist Axel Kahn, Professor Bouhamed Chaabouni has always believed in the importance of challenging beliefs and of developing and applying knowledge to further her science and provide solutions to help those in need. She has contributed to a number of international initiatives related to hereditary diseases, including UNESCO's universal declaration on the human genome and human rights.
In her own words: “I fulfilled a childhood dream of understanding how life started and how all human beings are eternal.”
As a child, Habiba Bouhamed Chaabouni was always asking questions of everybody about the evolution of the cosmos and the end of the world.

‘My early desire to understand life and the universe and my curiosity were probably at the origin of my choice of a scientific career,” she says. “I think that by following a career in the area of genetics, I fulfilled a childhood dream of understanding how life started and how all human beings are eternal. Their basic material, DNA, can last eternally on Earth.”
Although she enjoyed literature and language, Professor Bouhamed Chaabouni had no hesitation in taking up scientific studies. “Brought up in a family where discipline was ‘de rigueur', I found it easy to follow scientific logic and mathematical reasoning. Scientific subjects corresponded well to my hopes and brought me a certain satisfaction of spirit.”
“My generation benefited from a policy of education. Both boys and girls were encouraged to go to school and all university
students had a study grant. My father, although he had no academic diploma, was a great defender of knowledge, culture
and the education of his children. He told us that study and gaining a qualification were the best guarantees of independence
and liberty. As Tunisia opened up to Europe, the access to higher education and the availability of the scientific press, however partial, meant that science was quite highly valued. All these elements had a favorable impact on my scientific career”.

But Professor Bouhamed Chaabouni's career path was not always a smooth one. “A woman was not supposed to evolve in a masculine world. At the time, thirty-five years ago, science was a male domain. Medical studies were not for women and a
woman was not supposed to have an ambitious career. She was supposed to leave a security margin with respect to men in
her professional life. These cultural beliefs sometimes penalized my career, especially later on. I was once refused a post of responsibility in favor of a male colleague, the only argument being that I was a happily married mother!”
In spite of these difficulties, her deep desire to develop a medical and scientific specialty and to put in place a different approach to medicine in Tunisia pushed her to continue her scientific career.

“I enjoy the area I work in; I learn, I produce, I train scientists and doctors from the next generation and I communicate with the public to demystify genetic disease”. Above all, Habiba Bouhamed Chaabouni values the knowledge that her research could be exploited to help patients and their families, and the population in general. “Not only is it important
but it is my professional raison d'ętre,” she says, “to help affected families and ill patients to understand what has happened to them and, above all, to help them to have healthy descendants.”

Courtesy Arabian Woman

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