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How advances in genomics can map disease and find cures for cancer


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Every week, Dr. Gudrun Schleiermacher participates in a meeting that brings together pediatric oncologists from all over France, to analyze the cancer cells of young patients, in a move aimed at determining the most effective treatment for their condition based on the genome of a particular type of cancer.

This meeting is considered a revolution for sick children who do not respond to conventional treatments, as the pediatrician, a German researcher at the Curie Institute, the first French center for cancer control, explains. Thanks to state-of-the-art genome analysis techniques, specialists are now able to identify molecular changes in cancer cells and place a treatment in a clinical trial stage for a patient.

Twenty years ago, the medical field made great progress thanks to genomics, which deals with the functioning of various cells, including cancerous ones, based on genes. Gordon describes what has been achieved as “the rapid advancement of knowledge.”

And in 2003, the first major breakthrough was made: the complete sequencing of the human genome. “It was not possible to analyze all genes before,” says the pediatric oncologist, adding, “Then this method became available to us, in addition to high-performance machines that provide doctors with a comprehensive view of all genes.”

“We can also see the changes in the cancer cells,” she says.

This progress is making a very big difference in the treatment of cancer, which affects 2,500 children in France annually. Gordon’s work focuses specifically on neuroblastoma or neuroblastoma, which is one of the most common cancers in children, with 150 cases diagnosed in young people annually in France.

“actual hope”

Thanks to genomics, children who have changes in a gene can benefit from targeted therapy that specifically targets the altered gene. One of the drugs is undergoing clinical trials at the Curie Institute, while Gordon points out that “the initial results look very positive,” and she says, “This treatment really holds hope.”

On a broader level, genomics has contributed to the creation of more than 100 targeted therapies that target altered cancer cells, explains Pascal Pujol, head of the oncology department at the University Hospital of Montpellier (South).

He says, “Obtaining genetic information provides several possibilities, including issuing predictive diagnoses for diseases, such as breast cancer, for example.”

Patients with a BRCA mutation face a 70% risk of breast cancer and a 20-30% risk of ovarian cancer. Diagnosis and prevention are appropriate in ovarian cancer, with ovaries removed when approaching menopause, for example.

Women who have had breast and ovarian cancer for many years benefit from a drug that targets these changes, thanks to knowledge about the BRCA mutation.

Rare diseases

Genomics also helps treat rare diseases. As part of a project promoted by the “Genethon” company, doctors and researchers from the “Nkr-Infan Malad Hospital” and the “Imagine” Institute are working on a rare disease that affects the immune system, “Chronic granulomatous disease”, which causes permanent infections of organs due to Immunodeficiency.

The researchers used new tools that allowed them to “create maps and analyze hundreds of individual cells,” says Emmanuel Cis from the Imagine Institute.

They were able to show 51 biomarkers that can predict the success or failure of gene therapy.

But will this type of treatment be reserved for everyone? Specialists express their observations in this regard, because devising customized treatments for each rare disease will not be possible.

In addition, a number of authorities do not show a great desire to learn about these new technologies, according to Pascal Pujol, who calls on health authorities to pay attention to these costly innovations.

Merry C. Vega is a highly respected and accomplished news author. She began her career as a journalist, covering local news for a small-town newspaper. She quickly gained a reputation for her thorough reporting and ability to uncover the truth.

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