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- Boggio, Andrea, et al.
(författare)
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The Human Right to Science and the Regulation of Human Germline Engineering
- 2019
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Ingår i: CRISPR Journal. - : Mary Ann Liebert Inc. - 2573-1599 .- 2573-1602. ; 2:3, s. 134-142
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Tidskriftsartikel (refereegranskat)abstract
- There is currently no international consensus on how human germline engineering should be regulated. Existing national legislation fails to provide the governance framework necessary to regulate germline engineering in the CRISPR era. This is an obstacle to scientific and clinical advancements and inconsistent with human rights requirements. To move forward, we suggest that the human right to science is an ideal starting point for building consensus, at the national and international levels, on governing principles that promote responsible scientific and technological advancements. Regulatory frameworks must recognize the international nature of modern germline genome engineering research, the need for shared governance rather than tech-locked prohibitions, and the fact that humans are not their germline.
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- Cunningham, Thomas J., et al.
(författare)
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DNA Editing for Amyotrophic Lateral Sclerosis : Leading Off First Base
- 2020
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Ingår i: The CRISPR Journal. - : Mary Ann Liebert. - 2573-1599 .- 2573-1602. ; 3:2, s. 75-77
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- Gene therapy in a mouse model for amyotrophic lateral sclerosis (ALS) illustrates the rapid deployment of base editing in therapeutic modeling of neurodegenerative disease.
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- Leclerc, D., et al.
(författare)
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Gene Editing Corrects In Vitro a G > A GLB1 Transition from a GM1 Gangliosidosis Patient
- 2023
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Ingår i: Crispr Journal. - : Mary Ann Liebert Inc. - 2573-1599 .- 2573-1602. ; 6:1
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Tidskriftsartikel (refereegranskat)abstract
- Ganglioside-monosialic acid (GM1) gangliosidosis, a rare autosomal recessive disorder, is frequently caused by deleterious single nucleotide variants (SNVs) in GLB1 gene. These variants result in reduced beta-galactosidase (beta-gal) activity, leading to neurodegeneration associated with premature death. Currently, no effective therapy for GM1 gangliosidosis is available. Three ongoing clinical trials aim to deliver a functional copy of the GLB1 gene to stop disease progression. In this study, we show that 41% of GLB1 pathogenic SNVs can be replaced by adenine base editors (ABEs). Our results demonstrate that ABE efficiently corrects the pathogenic allele in patient-derived fibroblasts, restoring therapeutic levels of beta-gal activity. Off-target DNA analysis did not detect off-target editing activity in treated patient's cells, except a bystander edit without consequences on beta-gal activity based on 3D structure bioinformatics predictions. Altogether, our results suggest that gene editing might be an alternative strategy to cure GM1 gangliosidosis.
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- Niemiec, Emilia, Dr, et al.
(författare)
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Germline Genome Editing Research : What Are Gamete Donors (Not) Informed About in Consent Forms?
- 2020
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Ingår i: The CRISPR Journal. - : Mary Ann Liebert. - 2573-1599 .- 2573-1602. ; 3:1, s. 52-63
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Tidskriftsartikel (refereegranskat)abstract
- The potential for using germline genome editing (GGE) in humans has garnered a lot of attention, both for its scientific possibilities as well as for the ethical, legal, and social challenges it ignites. The ethical debate has focused primarily on the suggestions of using GGE to establish a pregnancy (i.e., to offer it in a clinical setting), which is, to date, illegal in many jurisdictions. The use of GGE in research (where a pregnancy would not be established) has received much less attention, despite the fact that it raises serious ethical and social issues as well. Herein, we report on the analysis of informed consent forms for egg and sperm donation used in a widely publicized study where genome editing was used to correct a disease-causing genetic mutation in human embryos. Importantly, embryos were created using eggs and sperm obtained specifically for these experiments. The analysis indicates deficiencies in how the forms addressed various issues, including limited and potentially misleading information about the sensitive nature of the study, the lack of an explicit mention of genomic sequencing, as well as the poor readability of the forms. Furthermore, the arguably high compensation of U.S.$5,000 for egg donors raises questions about undue inducement to participate in research. Moreover, since the procurement of eggs involves serious health risks, it may be questioned whether research requiring such a procedure should be pursued. If such experiments are continued, donors should be informed about all relevant aspects in order to make informed decisions about participating.
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- Andersson, Maj-Britt, 1955-
(författare)
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Caravaggios queera allegori om alkemi
- 2013
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Ingår i: Lambda Nordica. - Lambda Nordica. - 1100-2573 .- 2001-7286. ; 18:2, s. 79-92
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Tidskriftsartikel (refereegranskat)abstract
- Det kan förefalla omöjligt att tillfoga något nytt om konstnärer som Leonardo da Vinci, Michelangelo, Rafael och Caravaggio som det skrivits så oändligt mycket om. Men än finns det förbisedda verk och verk att återupptäcka. Ett sådant är den ganska okända takmålning från omkring 1599 av Caravaggio, i ett litet sidorum, en studerkammare, i Casino Ludovisi i Rom. Målningen återupptäcktes 2010 då 400-års- minnet av Caravaggios död uppmärksammades med utställningar och visningar av hans verk i kyrkor, museer och privat ägo. Den visas nu efter tidsbokning och mot en större avgift. ”Estremamente potente”, ex- tremt kraftfull, brukar besökare utbrista om målningen med molnig himmel och en sfär med zodiaken, omgiven av tre nakna män. Männen har identifierats som ett trippelsjälvporträtt av Caravaggio som gudarna Jupiter, Neptunus och Pluto (bild 1) i ett komplext kultur- och naturve- tenskapligt program som handlar om alkemi. Med queert läckage, ska det här tilläggas. I det följande kommer jag att redogöra för hur detta program också involverar ett dåtida normsystem kring sexualitet.
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