3 research outputs found
Equity, diversity, and inclusion at the Global Alliance for Genomics and Health
- Author
- Baichoo Shakuntala
- Baichoo Shakuntala
- Boughtwood Tiffany F.
- Boughtwood Tiffany F.
- Casas-Silva Esmeralda
- Casas-Silva Esmeralda
- Chandrasekharan Subhashini
- Chandrasekharan Subhashini
- Corpas Manuel
- Corpas Manuel
- Dave Sanjay M.
- Dave Sanjay M.
- Fakhro Khalid A.
- Fakhro Khalid A.
- Falcon de Vargas Aida B
- Falcon de Vargas Aida B
- Gayle Sylvia S.
- Gayle Sylvia S.
- Gupta Vivek K.
- Gupta Vivek K.
- Hendricks-Sturrup Rachele
- Hendricks-Sturrup Rachele
- Hobb Ashley E.
- Hobb Ashley E.
- Kumuthini Judit
- Kumuthini Judit
- Li Stephanie
- Li Stephanie
- Llamas Bastien
- Llamas Bastien
- Lopez-Correa Catalina
- Lopez-Correa Catalina
- Machirori Mavis
- Machirori Mavis
- Melendez-Zajgla Jorge
- Melendez-Zajgla Jorge
- Millner Mareike A.
- Millner Mareike A.
- Page Angela J.H.
- Page Angela J.H.
- Paglione Laura D.
- Paglione Laura D.
- Raven-Adams Maili C.
- Raven-Adams Maili C.
- Skantharajah Neerjah
- Skantharajah Neerjah
- Smith Lindsay
- Smith Lindsay
- Thomas Ericka M.
- Thomas Ericka M.
- Publication venue
- Elsevier
- Publication date
- 01/01/2023
- Field of study
A lack of diversity in genomics for health continues to hinder equitable leadership and access to precision medicine approaches for underrepresented populations. To avoid perpetuating biases within the genomics workforce and genomic data collection practices, equity, diversity, and inclusion (EDI) must be addressed. This paper documents the journey taken by the Global Alliance for Genomics and Health (a genomics-based standard-setting and policy-framing organization) to create a more equitable, diverse, and inclusive environment for its standards and members. Initial steps include the creation of two groups: the Equity, Diversity, and Inclusion Advisory Group and the Regulatory and Ethics Diversity Group. Following a framework that we call "Reflected in our Teams, Reflected in our Standards," both groups address EDI at different stages in their policy development process. [Abstract copyright: © 2023 The Author(s).
Whole-genome sequencing reveals host factors underlying critical COVID-19
- Author
- Abd Elghafar Mohamed S.
- Abdel-Aziz Mahmoud
- Abdelrazik Marwa
- Abdollahi Hamed
- Abdullah T.
- Abecasis Goncalo
- Abedalthagafi M.
- Abel Lynn
- Abernathy C.
- Abraheem Azmeralde
- Abul-Husn Noura S.
- Acquilini D.
- Adams C.
- Adams Emma L.
- Adams K.
- Adamsara Alireza
- Adanini Olurenke
- Adeleye O.
- Adra D.
- Afilalo J.
- Afilalo M.
- Afolabi D.
- Afrasiabi Z.
- Agasou A.
- Agrawal Shruti
- Agüero D.
- Ahmad N.
- Ahmadi Saeideh
- Ahmed A.
- Ahmed Cecilia
- Akeroyd L.
- Akhtar M.N.
- Akinkugbe O.
- Aksentijevich Alexandra
- Al-Afghani H.
- Al-Awdah L.
- Alaamery M.
- Alahmadey Z.Z.
- Alaverdian D.
- Alavere H.
- Albader A.
- Albaiceta G.M.
- Albakri J.K.
- AlBardis H.
- Albeladi M.
- Albesher N.
- Albrich W.
- AlDhawi N.
- Aldridge J.
- Aleagha Afshar Etemadi
- Alexander Peter.
- Alfonso J.
- Alghamdi B.
- Alghamdi J.
- Ali A.
- Ali Altaf
- Ali I.A.M.
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- Zöllner S.
- Åsvold Bjørn Olav
- Publication venue
- Publication date
- 01/01/2022
- Field of study
Altres ajuts: Department of Health and Social Care (DHSC); Illumina; LifeArc; Medical Research Council (MRC); UKRI; Sepsis Research (the Fiona Elizabeth Agnew Trust); the Intensive Care Society, Wellcome Trust Senior Research Fellowship (223164/Z/21/Z); BBSRC Institute Program Support Grant to the Roslin Institute (BBS/E/D/20002172, BBS/E/D/10002070, BBS/E/D/30002275); UKRI grants (MC_PC_20004, MC_PC_19025, MC_PC_1905, MRNO2995X/1); UK Research and Innovation (MC_PC_20029); the Wellcome PhD training fellowship for clinicians (204979/Z/16/Z); the Edinburgh Clinical Academic Track (ECAT) programme; the National Institute for Health Research, the Wellcome Trust; the MRC; Cancer Research UK; the DHSC; NHS England; the Smilow family; the National Center for Advancing Translational Sciences of the National Institutes of Health (CTSA award number UL1TR001878); the Perelman School of Medicine at the University of Pennsylvania; National Institute on Aging (NIA U01AG009740); the National Institute on Aging (RC2 AG036495, RC4 AG039029); the Common Fund of the Office of the Director of the National Institutes of Health; NCI; NHGRI; NHLBI; NIDA; NIMH; NINDS.Critical COVID-19 is caused by immune-mediated inflammatory lung injury. Host genetic variation influences the development of illness requiring critical care or hospitalization after infection with SARS-CoV-2. The GenOMICC (Genetics of Mortality in Critical Care) study enables the comparison of genomes from individuals who are critically ill with those of population controls to find underlying disease mechanisms. Here we use whole-genome sequencing in 7,491 critically ill individuals compared with 48,400 controls to discover and replicate 23 independent variants that significantly predispose to critical COVID-19. We identify 16 new independent associations, including variants within genes that are involved in interferon signalling (IL10RB and PLSCR1), leucocyte differentiation (BCL11A) and blood-type antigen secretor status (FUT2). Using transcriptome-wide association and colocalization to infer the effect of gene expression on disease severity, we find evidence that implicates multiple genes-including reduced expression of a membrane flippase (ATP11A), and increased expression of a mucin (MUC1)-in critical disease. Mendelian randomization provides evidence in support of causal roles for myeloid cell adhesion molecules (SELE, ICAM5 and CD209) and the coagulation factor F8, all of which are potentially druggable targets. Our results are broadly consistent with a multi-component model of COVID-19 pathophysiology, in which at least two distinct mechanisms can predispose to life-threatening disease: failure to control viral replication; or an enhanced tendency towards pulmonary inflammation and intravascular coagulation. We show that comparison between cases of critical illness and population controls is highly efficient for the detection of therapeutically relevant mechanisms of disease
Canada
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- A. D. Armitage
- A. Dawe
- A. Mandel
- A. Mitcham
- A. Yandle.
- A.Mitcham
- Allen Dale.
- Ammeter A.E.
- Amprimoz Alexandre.
- Annand Alan Mark.
- Aspler Tony.
- Atkinson Steve.
- Atwood Margaret.
- B. Bailey
- B. Cameron
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- B. Mitchell
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- Bartlett Brian.
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- Beissel Henry.
- Bell John.
- Benger Joanne.
- Bessette Gérard.
- Bishop Billy.
- Bissett Bill.
- Black Simon.
- Blais Marie-Claire.
- Blaise Clark.
- Blodgett E.D.
- Bolechala Josephine.
- Bolen Dennis E.
- Bolt Carol.
- Bowering George.
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- Brenner David Norman.
- Brewster Elizabeth.
- Brian Lee.
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- Bruce John.
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- C. Covert
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- Publication venue
- 'SAGE Publications'
- Publication date
- Field of study