Al Arabiya Net opens the file of metabolic diseases and the way to treat them with genes

An old child in his eighties, no more than five years old, has been diagnosed with a rare genetic disease, and this Bangladeshi child, according to the British newspaper “Daily Mail”, suffers from swelling of the face and sagging skin, and his eyes appear hollow, his joints hurt, and he cannot urinate easily. His teeth look weak and broken, and his parents hope for a miracle for his recovery.

This child with “Guilford Hutchinson Syndrome”, named Bayazid Hussein, turned into a cinematic work with an inspiring human color, taken by the director of the movie “Benjamin Button” penetrating the psyche of the child, and according to the story of the film, children are afraid to play and deal with it, and despite that, he has great abilities. in intelligence.

Bayazid Hussein with his mother

A technological revolution in the future of “precision medicine”

Rare metabolic genetic diseases are classified into types, including “Fabri”, “Gaucher” and “Hunter”, and in light of this, Saudi Dr. Majid Al-Fadl, Head of the Genetic Diseases Department at the National Guard Hospital in Riyadh, confirmed in an exclusive interview with , that Saudi Arabia possesses medical expertise and ingredients comparable to major countries in the field of genetic treatment, with specialized minds and scientific expertise with advanced medical capabilities, noting that with the development of science and technology, it has become possible to treat a person according to his genes, with what is known as “accurate medicine”, considering that This field is the future of medicine in the next two decades, and it will be effective in treating all serious diseases, ensuring full recovery and recovery.

Bayazid Hussein with his mother

Bayazid Hussein with his mother

Genetic diseases that cause mental retardation, blindness, enlargement of the liver and spleen

During a medical conference recently held in Dubai, sponsored by the Genetic Diseases Society in Saudi Arabia in cooperation with the Emirates Genetic Society in the Emirates, specialists discussed the treatment of genetic diseases, in which Dr. Majed Al-Fadl, who presented more than 170 research papers published on genetic diseases on the pages of international medical journals.

Dr. said. Al-Fadl that some conditions cause stress in some organs, including mental retardation, total blindness, and enlarged liver and spleen, and many of these conditions cannot be diagnosed easily.

Dr. Majid Al-Fadl

Dr. Majid Al-Fadl

Effective solutions and awareness of conducting pre-marital laboratory tests

The importance of medical discoveries for these diseases, according to d. Al-Fadl, because it costs the state treasury financial bills, adding: Medicines do not represent a “effective solution” in any case, but they should be accompanied by excessive awareness doses, and counter preventive programs such as encouraging pre-marital laboratory tests and early birth examinations, in addition to sequencing Comprehensive exons, and genome sequencing, in order to immunize the community against these dangerous diseases.

Dr. Al-Fadl pointed out that the rate of rare genetic diseases in the Gulf region ranges from 1.1000 to 1.2000. People are infected, and some of these diseases may lead to early death.

In his speech to Al, he added that it is common knowledge that these metabolic diseases have no cure, although there are recent medical discoveries confirming the presence of medicines available in Saudi Arabia and the Gulf, which have succeeded in curing many cases.

About 7000 genetic diseases in the world are difficult to diagnose

In the same context, Dr. Sherif Ibrahim, medical chief of “Takeda”, which specializes in genetic diseases in the Middle East, said that there are about 7000 genetic diseases in the world that are difficult for specialized doctors to diagnose, because the patient arrives to the doctor late, so he cannot obtain any tangible therapeutic benefit.

He pointed out that there are from 5 to 10 cases of genetic disease among every million citizens of any country in the world, stressing that there are treatments that have achieved important medical breakthroughs and breakthroughs, but in many cases they are less efficient and do not guarantee satisfactory results, except for cases that have undergone early diagnosis. With it, the available treatments have proven very effective, and contributed to raising patients’ recovery rates easily.

Dr. Sherif Ibrahim

Dr. Sherif Ibrahim

Family embarrassment..the solution is to raise awareness

In parallel, there are no accurate medical studies on the number of genetic diseases. The greater the awareness, the greater the opportunity to find and treat cases. Awareness messages about the importance of early examination help to discover cases and be able to eliminate various types of genetic diseases in societies.

But the biggest challenge, according to Dr. Sherif Ibrahim, lies in changing the behavior of some families, who find social embarrassment in declaring a member of their family with a genetic disease, and we seek, through our participation in international medical conferences or through genetic association programs and media platforms, to raise awareness of the need to detect diseases and start treating them, to The side of pushing early periodic examination procedures to avoid subsequent pathological shocks, with which no treatment solutions may succeed.

Most popular approved treatments

He drew d. Sharif Ibrahim pointed out that “there is a rare genetic disease that affects one person out of 50,000 to 200,000 of the total population of any country,” considering that these diseases have modern and advanced treatments available in the Gulf, unlike what most people believe do not respond to any treatment.

He continued, “The most popular and most efficient approved treatments are gene therapy and treatment by providing the patient with an enzyme replacement, in addition to stem cell therapy. There are treatments under study to change the genetic makeup of patients to help them produce these enzymes, and any of these treatments is chosen according to what is required. Each case requires it.

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