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2. A regionally based precision medicine implementation initiative in North Africa:The PerMediNA consortium

Author

Yosr Hamdi, Maroua Boujemaa, Jihenne Ben Aissa-Haj, Fouzia Radouani, Meriem Khyatti, Najah Mighri, Mariem Hannachi, Kais Ghedira, Oussema Souiai, Chaima Hkimi, Mohamed Selim Kammoun, Nesrine Mejri, Hanen Bouaziz, Mohamed Amine Beloufa, Hicham Charoute, Abdelhamid Barakat, Imène Najjar, Hiroaki Taniguchi, Natalia Pietrosemoli, Koussay Dellagi, Sonia Abdelhak, Mohamed Samir Boubaker, Claudia Chica, Etienne Rouleau, Abdellatif benider, Adil El-hamouchi, AIT YOUNES Sonia, Alia Ben Kahla, AMIMER Abdelmalik, AMIR Zine, charif, Amira Jaballah, Amira Louiza, Amina GIHBID, BACHIR Achouak, BELABDI Djihad, BELHADEF Said, BELNOUI Rafika, Belarbi Ayed, Benchakroune Nadia, Benchakroun Nadia, BENINAL Meriem, BENKALI Radja, BENSIHAMDI Asma, BENYOUCEF Hichem, BENDIMRED Thouraya, Bensouf Nadir, BENNOUI Rafika, Berrazegua Yosra, Biskri Latefa, BOUAOUNI Saida, BOUANIKA Meriem, Bouamra Abderezzak, Bouaziz Hanen, Boudinar Fatma Zohra, Bouhara Sabrina, Boussouf Nadir, Boutayeb Saber, BOUNEDJAR Adda, Chabati Omar, Charfeddine Cherine, Chilla Dalia, Chiraz Mehemmai, Cyrine Bouabid, Dahnane Souad, DIAB Soraya, Dib Hocine Adlane, Dorra Wider, DERRAR Fawzi, ELKEBOUB Amina, EL ATTAR Hicham, EL FAHIME Elmostafa, ELHADEF Djazia, Emna Fehri, Farid Hakkou, Farida Hadjam, Fanny Mamboisse, GAIS Widad, GHARNAOUT Merzak, Guessoum Amir Nidhal, HADJAM Farida, HADJ SAHRAOUI, Haifa Rachdi, Hamza Yaiche, HANNACHI Leila, Hassan Mahfouf, Hend Bouguerra, Hicham El Attar, Hichem Ben Hassine, Houda Filali, Houda Harmak, Houda Kanaane, Ichrak Benamri, Imane El Alami, KASSA Reda, Karima Bendahhou, Khaoula Errafii, Khalid El Bairi, Khaali Wafaa, KARKOURI Mehdi, Kabbage Maria, Kammoun Wafa, Kanaane Houda, Kassa Reda, LAOUAR Narimane, Latefa Biskri, Louiza Amira, Louise Marie, Charion Chevalier, MALOUM Nabila, Marc Monot, Mariem Saadi, Mario Campone, Mehdi Mrad, MEHDI KARKOURI, MELIZI Mohamed, Meriem Saadi, Meriem CHAHER, Monia Ardhaoui, Mourad TALEB, Nadia Ben Jmiaa, Nadia Benchakroun, Najet Hadhri, Nawel SALHI, Nezha Taoufiq, Nouha Jandoubi, OUAHIOUNE Wahiba, OULDSLIMANE Salima, Rafika BELNOUI, Rahman Amira Louiza, Rym Benkhalifa, Saber Boutaib, Saber Boutayeb, Samia Menif, Salima OULDSLIMANE, Samuel Valcke, SLIMANI Assia, Sonia Ben Nasr, Sonia Maatoug, Sonia Ait Younes, Souad BENCHEHIDA, Souad BEKOUACI, Souha Sahraoui, Tali Maamar Hassiba, Talha Soraya, TALEB Mourad, TERKMANI Fella, TALHA Soraya, TOUISI Wassila, Wafa Kammoun, Wahiba OUAHIOUNE, Yosra Berrazegua, ZEMMOUR Amel, ZEROUAL Sarah, Zine Charif AMIR, and Zineb Zouafi

Subjects
Precision medicine, Equity, North Africa, Capacity building, Affordable genetic testing, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
Abstract

Precision Medicine is being increasingly used in the developed world to improve health care. While several Precision Medicine (PM) initiatives have been launched worldwide, their implementations have proven to be more challenging particularly in low- and middle-income countries. To address this issue, the “Personalized Medicine in North Africa” initiative (PerMediNA) was launched in three North African countries namely Tunisia, Algeria and Morocco. PerMediNA is coordinated by Institut Pasteur de Tunis together with the French Ministry for Europe and Foreign Affairs, with the support of Institut Pasteur in France. The project is carried out along with Institut Pasteur d’Algérie and Institut Pasteur du Maroc in collaboration with national and international leading institutions in the field of PM including Institut Gustave Roussy in Paris. PerMediNA aims to assess the readiness level of PM implementation in North Africa, to strengthen PM infrastructure, to provide workforce training, to generate genomic data on North African populations, to implement cost effective, affordable and sustainable genetic testing for cancer patients and to inform policy makers on how to translate research knowledge into health products and services. Gender equity and involvement of young scientists in this implementation process are other key goals of the PerMediNA project.In this paper, we are describing PerMediNA as the first PM implementation initiative in North Africa. Such initiatives contribute significantly in shortening existing health disparities and inequities between developed and developing countries and accelerate access to innovative treatments for global health.

Published
2024
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3. A regionally based precision medicine implementation initiative in North Africa:The PerMediNA consortium

Author

Hamdi, Yosr, primary, Boujemaa, Maroua, additional, Ben Aissa-Haj, Jihenne, additional, Radouani, Fouzia, additional, Khyatti, Meriem, additional, Mighri, Najah, additional, Hannachi, Mariem, additional, Ghedira, Kais, additional, Souiai, Oussema, additional, Hkimi, Chaima, additional, Kammoun, Mohamed Selim, additional, Mejri, Nesrine, additional, Bouaziz, Hanen, additional, Beloufa, Mohamed Amine, additional, Charoute, Hicham, additional, Barakat, Abdelhamid, additional, Najjar, Imène, additional, Taniguchi, Hiroaki, additional, Pietrosemoli, Natalia, additional, benider, Abdellatif, additional, El-hamouchi, Adil, additional, Sonia, AIT YOUNES, additional, Kahla, Alia Ben, additional, Abdelmalik, AMIMER, additional, Zine, AMIR, additional, Jaballah, Amira, additional, Louiza, Amira, additional, GIHBID, Amina, additional, Achouak, BACHIR, additional, Djihad, BELABDI, additional, Said, BELHADEF, additional, Rafika, BELNOUI, additional, Ayed, Belarbi, additional, Nadia, Benchakroune, additional, Nadia, Benchakroun, additional, Meriem, BENINAL, additional, Radja, BENKALI, additional, Asma, BENSIHAMDI, additional, Hichem, BENYOUCEF, additional, Thouraya, BENDIMRED, additional, Nadir, Bensouf, additional, Rafika, BENNOUI, additional, Yosra, Berrazegua, additional, Latefa, Biskri, additional, Saida, BOUAOUNI, additional, Meriem, BOUANIKA, additional, Abderezzak, Bouamra, additional, Hanen, Bouaziz, additional, Zohra, Boudinar Fatma, additional, Sabrina, Bouhara, additional, Nadir, Boussouf, additional, Saber, Boutayeb, additional, Adda, BOUNEDJAR, additional, Omar, Chabati, additional, Cherine, Charfeddine, additional, Dalia, Chilla, additional, Mehemmai, Chiraz, additional, Bouabid, Cyrine, additional, Souad, Dahnane, additional, Soraya, DIAB, additional, Adlane, Dib Hocine, additional, Wider, Dorra, additional, Fawzi, DERRAR, additional, Amina, ELKEBOUB, additional, Hicham, EL ATTAR, additional, Elmostafa, EL FAHIME, additional, Djazia, ELHADEF, additional, Fehri, Emna, additional, Hakkou, Farid, additional, Hadjam, Farida, additional, Mamboisse, Fanny, additional, Widad, GAIS, additional, Merzak, GHARNAOUT, additional, Nidhal, Guessoum Amir, additional, Farida, HADJAM, additional, SAHRAOUI, HADJ, additional, Rachdi, Haifa, additional, Yaiche, Hamza, additional, Leila, HANNACHI, additional, Mahfouf, Hassan, additional, Bouguerra, Hend, additional, Attar, Hicham El, additional, Hassine, Hichem Ben, additional, Filali, Houda, additional, Harmak, Houda, additional, Kanaane, Houda, additional, Benamri, Ichrak, additional, Alami, Imane El, additional, Reda, KASSA, additional, Bendahhou, Karima, additional, Errafii, Khaoula, additional, Bairi, Khalid El, additional, Wafaa, Khaali, additional, Mehdi, KARKOURI, additional, Maria, Kabbage, additional, Wafa, Kammoun, additional, Houda, Kanaane, additional, Reda, Kassa, additional, Narimane, LAOUAR, additional, Biskri, Latefa, additional, Amira, Louiza, additional, Marie, Louise, additional, Chevalier, Charion, additional, Nabila, MALOUM, additional, Monot, Marc, additional, Saadi, Mariem, additional, Campone, Mario, additional, Mrad, Mehdi, additional, KARKOURI, MEHDI, additional, Mohamed, MELIZI, additional, Saadi, Meriem, additional, CHAHER, Meriem, additional, Ardhaoui, Monia, additional, TALEB, Mourad, additional, Jmiaa, Nadia Ben, additional, Benchakroun, Nadia, additional, Hadhri, Najet, additional, SALHI, Nawel, additional, Taoufiq, Nezha, additional, Jandoubi, Nouha, additional, Wahiba, OUAHIOUNE, additional, Salima, OULDSLIMANE, additional, BELNOUI, Rafika, additional, Louiza, Rahman Amira, additional, Benkhalifa, Rym, additional, Boutaib, Saber, additional, Boutayeb, Saber, additional, Menif, Samia, additional, OULDSLIMANE, Salima, additional, Valcke, Samuel, additional, Assia, SLIMANI, additional, Nasr, Sonia Ben, additional, Maatoug, Sonia, additional, Younes, Sonia Ait, additional, BENCHEHIDA, Souad, additional, BEKOUACI, Souad, additional, Sahraoui, Souha, additional, Hassiba, Tali Maamar, additional, Soraya, Talha, additional, Mourad, TALEB, additional, Fella, TERKMANI, additional, Soraya, TALHA, additional, Wassila, TOUISI, additional, Kammoun, Wafa, additional, OUAHIOUNE, Wahiba, additional, Berrazegua, Yosra, additional, Amel, ZEMMOUR, additional, Sarah, ZEROUAL, additional, AMIR, Zine Charif, additional, Zouafi, Zineb, additional, Dellagi, Koussay, additional, Abdelhak, Sonia, additional, Boubaker, Mohamed Samir, additional, Chica, Claudia, additional, and Rouleau, Etienne, additional

Published
2024
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7. Expression of Immune Response Markers in Arab Patients With Lung Cancer

Author

Jazieh, Abdul Rahman, primary, Bounedjar, Adda, additional, Bamefleh, Hanaa, additional, Alfayea, Turki, additional, Almaghraby, Hatim Q., additional, Belarabi, Ayed, additional, Ouahioune, Wahiba, additional, Derbouz, Zoubir, additional, Alkaiyat, Mohammad, additional, Alkattan, Khaled, additional, Damlaj, Moussab, additional, and Khalbuss, Walid E., additional

Published
2020
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10. Linked homozygous BMPR1Band PDHA2variants in a consanguineous family with complex digit malformation and male infertility

Author

Yıldırım, Yeşerin, Ouriachi, Toufik, Woehlbier, Ute, Ouahioune, Wahiba, Balkan, Mahmut, Malik, Sajid, and Tolun, Aslıhan

Abstract

In affected members of a consanguineous family, a syndrome, which is concurrence of set of medical signs, is often observed and commonly assumed to have arisen from pleiotropy, i.e., the phenomenon of a single gene variant affecting multiple traits. We detected six sibs afflicted with a unique combination of digit malformation that includes brachydactyly, symphalangism and zygodactyly plus infertility in males owing to azoospermia, sperm immotility or necrospermia, which we hypothesised to have arisen from a defect in a single gene. We mapped the disease locus and by exome sequencing identified in patients homozygous missense variants bone morphogenetic protein receptor type IB (BMPR1B)c.640C>T (p.(Arg214Cys)) and alpha-2 pyruvate dehydrogenase (PDHA2)c.679A>G (p.(Met227Val)). Structural protein modelling, protein sequence conservation and in silicoanalysis indicate that both variants affect protein function. BMPR1Bis known to be responsible for autosomal dominant brachydactyly and autosomal recessive acromesomelic chondrodysplasia. Our findings show that also recessive complex digit malformation can be caused by BMPR1Bvariant and not all biallelic BMPR1Bvariants cause acromesomelic dysplasia. PDHA2is a novel candidate gene for male infertility; the protein product is a mitochondrial enzyme with highest expression in ejaculated sperm. Our findings are a unique example of two linked variants, ~ 711 Kb apart, in different genes that together manifest as a novel syndrome. They demonstrate that exome sequencing and not candidate gene approach should be employed in disease gene hunt, defining new diseases and genetic testing, to rule out the coincidental presence of two variants contributing together to the phenotype, which may be discerned as a novel disease.

Published
2018
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