Results 201 to 210 of about 31,338 (290)

When Rare Is Not Small: Amyotrophic Lateral Sclerosis Initiatives and Therapy

Exploration, EarlyView.
In the precision‐medicine era, rare diseases must not be sidelined in translational infrastructure. The Mr. Cai Lei—led “Ice‐Breaking Team” turns an amyotrophic lateral sclerosis patient community into a sustainable ecosystem, realigning philanthropy, data, and research and development to reshape rare‐disease pipelines and guide precision therapies ...
Yang Liu, Xue Xia, Yingfang Chen, Haoying Yang, Xiaochen Chen, Lei Cai, Bingyang Shi   +6 more
wiley   +1 more source

Limited overlap between genetic effects on disease susceptibility and disease survival. [PDF]

Nat Genet
Yang Z, Pajuste FD, Zguro K, Cheng Y, Kurant DE, Eoli A, Wanner J, Jermy B, Rämö J, FinnGen, Kanoni S, van Heel DA, Genes & Health Research Team, Hayward C, Marioni RE, McCartney DL, Renieri A, Furini S, INTERVENE consortium, Mägi R, Gusev A, Drineas P, Paschou P, Heyne H, Ripatti S, Mars N, Ganna A.   +26 more
europepmc   +1 more source

Multi‐Cohort Analysis Reveals Genetic Predispositions to Clonal Hematopoiesis as Mutation‐Specific Risk Factors for Stroke

Advanced Genetics, Volume 6, Issue 1, March 2025.
This study comprehensively evaluated the differential effect of clonal hematopoiesis (CH) mutations on the risk of various stroke subtypes and functional recovery. It shows that TET2 is associated with small vessel stroke possibly via a pro‐inflammatory pathway. Abstract Recent observational studies have found an association between Clonal Hematopoesis
Shuyang Lin, Yang E. Li, Yan Wang
wiley   +1 more source

Perspectives from the 2025 ISCBI/ISCI joint workshop on genetic stability, clonal monitoring, ethical data governance, and global inclusion in stem cell banking. [PDF]

Stem Cell Res Ther
Kim JH, Kurtz A, Barbaric I, Inamdar MS, Pera MF, Benvenisty N, Shakiba N, Isasi R, Hanatani T, Stacey G.   +9 more
europepmc   +1 more source

Human and wildlife biobanks of germplasms and reproductive tissues can contribute to a broader concept of One Health. [PDF]

F S Rep
Fujihara M, Comizzoli P.
europepmc   +1 more source

Biorepositories For Global Rare Disease Research: A Narrative Review. [PDF]

Curr Rheumatol Rep
Pellico MR, Day J, Shah M, Yi BY, Saketkoo LA, Lood C, Gupta L.   +6 more
europepmc   +1 more source

Biobanking

, 2015
Kris Dierickx, Kristien Hens
openaire   +1 more source

Life sciences and biotechnology – A strategy for Europe. Third progress report and future orientations. Report from the Commission to the European Parliament, the Council and the Economic and Social Committee. COM (2005) 286 final, 29 June 2005 [PDF]

, 2005

core  

Quantifying the impact of biobanks and cohort studies. [PDF]

Proc Natl Acad Sci U S A
Dorantes-Gilardi R, Ivey KL, Costa L, Matty R, Cho K, Gaziano JM, Barabási AL.   +6 more
europepmc   +1 more source

Research opportunities in precision oncology: perspectives on biospecimen and genomic data sharing from adults with cancer in Ireland. [PDF]

Ir J Med Sci
O'Grady S, Ralston JC, McKiernan E, Drummond FJ, Rynne J, Mitchell D, Bray I, Gallagher WM, Drury A, Kolch W.   +9 more
europepmc   +1 more source