A call for global action for rare diseases in Africa

被引：32

作者：

Baynam, Gareth S. ^{[1
,2
,3
,4
]}

Groft, Stephen ^{[5
]}

van der Westhuizen, Francois H. ^{[6
]}

Gassman, Safiyya D. ^{[7
]}

du Plessis, Kelly ^{[8
]}

Coles, Emily P. ^{[9
]}

Selebatso, Eda ^{[10
]}

Selebatso, Moses ^{[10
]}

Gaobinelwe, Boikobo ^{[10
]}

Selebatso, Tebogo ^{[10
,11
]}

Joel, Dipesalema ^{[12
,13
]}

Llera, Virginia A. ^{[14
]}

Vorster, Barend C. ^{[15
]}

Wuebbels, Barbara ^{[16
]}

Djoudalbaye, Benjamin ^{[17
]}

Austin, Christopher P. ^{[5
]}

Kumuthini, Judit ^{[18
]}

Forman, John

Kaufmann, Petra ^{[19
]}

Chipeta, James ^{[20
]}

Gavhed, Desiree ^{[21
,22
]}

Larsson, Annika ^{[23
]}

Stojiljkovic, Maja ^{[24
]}

Nordgren, Ann ^{[25
,26
,27
]}

Roldan, Emilio J. A. ^{[28
]}

Taruscio, Domenica ^{[29
]}

Wong-Rieger, Durhane ^{[30
,31
]}

Nowak, Kristen ^{[9
]}

Bilkey, Gemma A. ^{[9
,32
]}

Easteal, Simon ^{[33
]}

Bowdin, Sarah ^{[34
]}

Reichardt, Juergen K. V. ^{[35
]}

Beltran, Sergi ^{[36
,37
]}

Kosaki, Kenjiro ^{[38
]}

van Karnebeek, Clara D. M. ^{[39
,40
,41
]}

Gong, Mengchun ^{[42
]}

Zhang Shuyang ^{[43
]}

Mehrian-Shai, Ruty ^{[44
]}

Adams, David R. ^{[45
]}

Puri, Ratna D. ^{[46
]}

Zhang, Feng ^{[47
]}

Pachter, Nicholas ^{[1
,48
,49
]}

Muenke, Maximilian ^{[50
]}

Nellaker, Christoffer ^{[51
,52
]}

Gahl, William A. ^{[45
,53
]}

Cederroth, Helene ^{[54
]}

Broley, Stephanie ^{[1
]}

Schoonen, Maryke ^{[6
]}

Boycott, Kym M. ^{[55
]}

Posada, Manuel ^{[56
,57
]}

机构：

[1] Govt Western Australia, Dept Hlth, Genet Serv Western Australia, Perth, WA, Australia

[2] Govt Western Australia, Western Australian Register Dev Anomalies, Dept Hlth, Perth, WA, Australia

[3] Univ Western Australia, Div Pediat, Sch Med, Perth, WA, Australia

[4] Univ Western Australia, Telethon Kids Inst, Perth, WA, Australia

[5] NIH, Natl Ctr Advancing Translat Sci, Bldg 10, Bethesda, MD 20892 USA

[6] North West Univ, Human Metabol, Mitochondria Res Lab, Potchefstroom, South Africa

[7] Pfizer USA, Corp Affairs Rare Dis, New York, NY USA

[8] Rare Dis South Africa, Johannesburg, South Africa

[9] Govt Western Australia, Dept Hlth, Off Populat Hlth Genom, Perth, WA, Australia

[10] Botswana Org Rare Dis BORDIS, Gaborone, Botswana

[11] Botswana Univ Agr & Nat Resources, Gaborone, Botswana

[12] Univ Botswana, Botswana Baylor Childrens Clin Ctr Excellence, Dept Pediat & Adolescent Med, Fac Med, Gaborone, Botswana

[13] Princess Marina Hosp, Gaborone, Botswana

[14] GEISER Fdn, Mendoza, Argentina

[15] Potchefstroom Campus North West Univ, CHM, Lab Inborn Errors Metab PLIEM, Potchefstroom, South Africa

[16] PPALS, Danbury, CT USA

[17] African Union Commiss, Africa Ctr Dis Control & Prevent, Addis Ababa, Ethiopia

[18] Ctr Prote & Genom Res, Cape Town, South Africa

[19] AveXis, San Diego, CA USA

[20] Univ Zambia, Univ Teaching Hosp, Lusaka Children Hosp, Dept Pediat & Child Hlth,Sch Med, Lusaka, Zambia

[21] Karolinska Univ Hosp, Karolinska Inst, Childhood Canc Res Unit, Dept Womens & Childrens Hlth, Stockholm, Sweden

[22] Karolinska Univ Hosp, Karolinska Ctr Rare Dis, Stockholm, Sweden

[23] Reg Canc Ctr Uppsala Orebro, Uppsala, Sweden

[24] Univ Belgrade, IMGGE, Lab Mol Biomed, Belgrade, Serbia

[25] Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden

[26] Karolina Inst, Dept Mol Med & Surg, Stockholm, Sweden

[27] Karolina Inst, Ctr Mol Med, Stockholm, Sweden

[28] GADOR SA, Innovat Div, Buenos Aires, DF, Argentina

[29] Ist Super Sanita, Natl Ctr Rare Dis, Rome, Italy

[30] Canadian Org Rare Disorders, Toronto, ON, Canada

[31] Rare Dis Int, Geneva, Switzerland

[32] Govt Western Australia, Publ & Aboriginal Hlth Div, Off Chief Hlth Officer, Dept Hlth, Perth, WA, Australia

[33] Australian Natl Univ, John Curtin Sch Med Res, Canberra, ACT, Australia

[34] Cambridge Univ Hosp NHS Fdn Trust, Addenbrookes Hosp, Cambridge, England

[35] James Cook Univ, AITHM, Smithfield, Qld, Australia

[36] Barcelona Inst Sci & Technol, Ctr Genom Regulat CNAG CRG, Ctr Nacl Anal Genom, Barcelona, Spain

[37] Univ Pompeu Fabra, Barcelona, Spain

[38] Keio Univ, Ctr Med Genet, Tokyo, Japan

[39] Univ Amsterdam, Emma Childrens Hosp, Med Ctr, Dept Pediat, Amsterdam, Netherlands

[40] Univ Amsterdam, Emma Childrens Hosp, Med Ctr, Dept Clin Genet, Amsterdam, Netherlands

[41] Radboud Univ Nijmegen, Med Ctr, Dept Pediat, Nijmegen, Netherlands

[42] Natl Rare Dis Registry Syst China NRDRS, Beijing, Peoples R China

[43] Peking Union Med Coll Hosp, Beijing, Peoples R China

[44] Sheba Med Ctr, Pediat Hematooncol, Ramat Gan, Israel

[45] NIH, Undiagnosed Dis Program, Bldg 10, Bethesda, MD 20892 USA

[46] Sir Ganga Ram Hosp, Inst Med Genet & Genom, New Delhi, India

[47] SeekIn Inc, Shenzhen, Guangdong, Peoples R China

[48] Univ Western Australia, Div Med & Pharmacol, Sch Med, Perth, WA, Australia

[49] Curtin Univ, Sch Med, Perth, WA, Australia

[50] NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USA

来源：

NATURE GENETICS | 2020年 / 52卷 / 01期

基金：

英国医学研究理事会;

关键词：

CONGENITAL-ANOMALIES; PRIMARY PREVENTION;

D O I：

10.1038/s41588-019-0552-2

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The 11(th) International Conference on Rare Diseases and Orphan Drugs (ICORD), South Africa, included the Africa-Rare initiative launch and facilitated multi-stakeholder engagement in the challenges facing, and opportunities for, Africans living with rare diseases. The following ICORD Global Call to Action, developed in collaboration with the International Rare Diseases Research Consortium, synthesizes the outcomes of the deliberations and emphasizes the international collaborative efforts required to address the global effects of rare diseases on public health.

引用

页码：21 / 26

页数：6

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