Literature DB >> 31873296

A call for global action for rare diseases in Africa.

Gareth S Baynam1,2,3, Stephen Groft4, Francois H van der Westhuizen5, Safiyya D Gassman6, Kelly du Plessis7, Emily P Coles8, Eda Selebatso9, Moses Selebatso9, Boikobo Gaobinelwe9, Tebogo Selebatso9,10, Dipesalema Joel11, Virginia A Llera12, Barend C Vorster13, Barbara Wuebbels14, Benjamin Djoudalbaye15, Christopher P Austin4, Judit Kumuthini16, John Forman17, Petra Kaufmann18, James Chipeta19, Désirée Gavhed20, Annika Larsson21, Maja Stojiljkovic22, Ann Nordgren23,24, Emilio J A Roldan25, Domenica Taruscio26, Durhane Wong-Rieger27,28, Kristen Nowak8, Gemma A Bilkey8,29, Simon Easteal30, Sarah Bowdin31, Juergen K V Reichardt32, Sergi Beltran33,34, Kenjiro Kosaki35, Clara D M van Karnebeek36,37, Mengchun Gong38, Zhang Shuyang39, Ruty Mehrian-Shai40, David R Adams41, Ratna D Puri42, Feng Zhang43, Nicholas Pachter1,44,45, Maximilian Muenke46, Christoffer Nellaker47, William A Gahl48, Helene Cederroth49, Stephanie Broley1, Maryke Schoonen50, Kym M Boycott51, Manuel Posada52.   

Abstract

Mesh：

Year:  2020        PMID： 31873296     DOI： 10.1038/s41588-019-0552-2

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


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  9 in total

1.  Increasing African genomic data generation and sharing to resolve rare and undiagnosed diseases in Africa: a call-to-action by the H3Africa rare diseases working group.

Authors:  Aimé Lumaka; Nadia Carstens; Koenraad Devriendt; Amanda Krause; Benard Kulohoma; Judit Kumuthini; Gerrye Mubungu; John Mukisa; Melissa Nel; Timothy O Olanrewaju; Zané Lombard; Guida Landouré
Journal:  Orphanet J Rare Dis       Date:  2022-06-16       Impact factor: 4.303

Review 2.  Knowledge-based approaches to drug discovery for rare diseases.

Authors:  Vinicius M Alves; Daniel Korn; Vera Pervitsky; Andrew Thieme; Stephen J Capuzzi; Nancy Baker; Rada Chirkova; Sean Ekins; Eugene N Muratov; Anthony Hickey; Alexander Tropsha
Journal:  Drug Discov Today       Date:  2021-10-27       Impact factor: 8.369

3.  Reducing global health inequalities for a rare disorder: evaluating the international Prader-Willi Syndrome Organisation's Echo® programme.

Authors:  Tanzil Rujeedawa; Nora McNairney; Shelly Cordner; James O'Brien; Georgina Loughnan; Anthony Holland
Journal:  Orphanet J Rare Dis       Date:  2022-10-21       Impact factor: 4.303

4.  Rare disease awareness and perspectives of physicians in China: a questionnaire-based study.

Authors:  Xuefeng Li; Xiangyu Zhang; Shu Zhang; Zijuan Lu; Jianyong Zhang; Jincheng Zhou; Bingzhe Li; Li Ou
Journal:  Orphanet J Rare Dis       Date:  2021-04-13       Impact factor: 4.123

Review 5.  Genetic counseling in the context of Bangladesh: current scenario, challenges, and a framework for genetic service implementation.

Authors:  Mohammad Jakir Hosen; Saeed Anwar; Jarin Taslem Mourosi; Sourav Chakraborty; Md Faruque Miah; Olivier M Vanakker
Journal:  Orphanet J Rare Dis       Date:  2021-04-09       Impact factor: 4.123

6.  Effects of socio-economic factors on research over systemic sclerosis: an analysis based on long time series of bibliometric data.

Authors:  Wei Guo; Zeyu Zhou; Yinhe Liang; Chuanhui Xu; Lin Zeng; Zhiyong Dong; Rong Mu
Journal:  Orphanet J Rare Dis       Date:  2021-12-20       Impact factor: 4.123

7.  Whole Exome Sequencing in South Africa: Stakeholder Views on Return of Individual Research Results and Incidental Findings.

Authors:  Nicole Van Der Merwe; Raj Ramesar; Jantina De Vries
Journal:  Front Genet       Date:  2022-06-08       Impact factor: 4.772

8.  Rare diseases in Tanzania: a National Call for Action to address policy and urgent needs of individuals with rare diseases.

Authors:  Frida Kaywanga; Mohamed Zahir Alimohamed; Aneth Bella David; Daniel Maeda; Sharifa Mbarak; Togolani Mavura; Siana Nkya; Deus S Ishengoma
Journal:  Orphanet J Rare Dis       Date:  2022-09-05       Impact factor: 4.303

Review 9.  Children with a rare congenital genetic disorder: a systematic review of parent experiences.

Authors:  Charlotte von der Lippe; Ingrid Neteland; Kristin Billaud Feragen
Journal:  Orphanet J Rare Dis       Date:  2022-10-17       Impact factor: 4.303
  9 in total

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