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Munthe, Christian, 1962
(författare)
Etiska aspekter på regenerativ medicin : Ethical aspects on regenerative medicine
2003
Ingår i: SNIB-konferensen 2003, Chalmers tekniska högskola, Göteborg, 16-18 maj 2003.
Konferensbidrag (övrigt vetenskapligt/konstnärligt) abstract
Inom den regenerativa medicinen strävar man efter att ersätta skadat eller sjukligt biologiskt mänskligt material (celler, organ, kroppsdelar) med nya biologiska komponenter. Området aktualiserar en rad etiska frågeställningar vad gäller (1) produktionen av ersättningsmaterialet (t.ex. embryonala stamceller eller införskaffande av transplantationsvävnad från donatorer), (2) risker i samband med försök på människa (genmodifierat material, material från djur), samt (3) gränserna för hur långt man bör gå i denna slags försök att förlänga människans livsspann. Föredraget ger en kort översikt över dessa frågeställningar, ståndpunkter och argument i debatten kring dem.
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Mattsson, C. Mikael, et al.
(författare)
The ELITE project (Exercise at the Limit - Inherited Traits of Endurance) - the genetic profiles of the best endurance athletes in the world.
2017
Konferensbidrag (refereegranskat) abstract
Cardiovascular health exists as a spectrum of wellness and disease states. Moreover, a significant portion of what defines these states is due to genetics. We hypothesize that there exist genes and pathways that dually contribute to both disease and extreme health states. Interrogating the ‘adaptive’ tail of the distribution for individuals with extreme phenotypes, such as high maximum oxygen uptake (VO2max) in endurance athletes, will inform prevention, cause and treatment of pathogenic (‘maladaptive’) conditions. 1 To date, most genetic studies in the athlete population have examined a subset of genes (out of more than 21,000 in the genome), using small sample sizes and qualitative measures of performance. To the best of our knowledge, there has not been a comprehensive genetic study of endurance athletes with strict quantitative eligibility criteria.2-4The ELITE project (Exercise at the Limit – Inherited Traits of Endurance) intends to investigate the world’s best endurance athletes, i.e. individuals with extremely high VO2max. A primary goal is to determine what role genetic variation plays in athletic ability. One of the ancillary goals of the project is to understand the unique genetic differences contributing to extreme fitness in women versus men. We will sequence and analyze the genomes of elite level competitive athletes from various countries (including USA, Scandinavia, UK, Japan, and Brazil) who are highly successful in one of several endurance sports (such as running, cross country skiing, triathlon, cycling, rowing). We have recruited 750 elite athletes (142 women and 608 men) who have been consented and undergone enhanced whole exome sequencing and/or MEGA chip GWAS analysis. Inclusion criteria for the study restricts to the highest tail end (>99.98th percentile or 1/5000), i.e. VO2max >63 ml/kg for women and >75 ml/kg for men. Even with differential eligibility, skewed recruitment (1:4) is a challenge.Our preliminary results show tantalizing evidence for potentially beneficial genetic variants in several highly plausible genes. Additionally, pilot burden testing on a subset of the athletes also showed promising results. While already promising, rigorous analysis, increased sample size and orthogonal replication is required as our next step. Mattsson CM, Wheeler M, Waggott D, Caleshu C, Ashley EA. Sports genetics moving forward - lessons learned from medical research. Physiol Genomics. 2016; 48(3):175-182.Bouchard C, Sarzynski MA, Rice TK, Kraus WE, Church TS, Sung YJ, Rao DC, Rankinen T. Genomic predictors of the maximal O₂ uptake response to standardized exercise training programs. J Appl Physiol (1985). 2011; 110(5):1160-70.Eynon N, Morán M, Birk R, Lucia A. The champions' mitochondria: is it genetically determined? A review on mitochondrial DNA and elite athletic performance. Physiol Genomics. 2011;43(13):789-98.Pitsiladis YP, Tanaka M, Eynon N, Bouchard C, North KN, Williams AG, Collins M, Moran CN, Britton SL, Fuku N, Ashley EA, Klissouras V, Lucia A, Ahmetov II, de Geus E, Alsayrafi M; Athlome Project Consortium. Athlome Project Consortium: a concerted effort to discover genomic and other "omic" markers of athletic performance. Physiol Genomics. 2016;48(3):183-90.
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Munthe, Christian, 1962
(författare)
The Return of Lombroso? Ethical and Philosophical Aspects of (Visions of) Forensic Screening
2013
Ingår i: 33rd International Congress of Law and Mental Health, Amsterdam, July 14-19, 2013.
Konferensbidrag (refereegranskat) abstract
Italian nineteenth century criminologist Cesare Lombroso is notorious for his seminal ideas about criminality and anti-social behaviour resulting from physiological anomalies that should be detected by society and used for forensic preventive purposes. After an extended period of disrepute following World War II, similar ideas have been resurrected in psychiatry, genetics, neurology and criminology in the past decade or two. In particular, there is a growing focus on early detection and application of preventive measures. This development actualizes a complex web of ethics and policy issues having to do with the well-known fact that screening and prevention in the health area are far from ethically clear-cut activities and actualize vivid prospects of doing extensive harm to individuals as well as society. Also, taken to its extreme, it actualizes the idea of using prenatal or preimplantation testing to preselect against children with a predisposition for criminal or antisocial behaviour. In the forensic case, such screening-prevention strategies will connect further to a complicated issue about the proper use of risk-assessment models for societal decision-making for precautionary purposes. Based on former work in all of these areas, this presentation will outline and analyze the basic issue of the defensibility of activities of this sort, with the perspective of forestalling unintentional harm to individuals and society.
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Strenn, Nina, 1984, et al.
(författare)
Associations between NFKB and NFKBIL1 polymorphisms and autistic-like traits in a Swedish population of twins
2014
Ingår i: 29th World Congress of the International College of Neuropsychopharmacology (CINP), 22-26 June 2014; Vancouver, Canada.
Konferensbidrag (övrigt vetenskapligt/konstnärligt) abstract
Objectives Autism spectrum disorders are a complex group of neurodevelopmental disorders which are characterized by impairments in social interactions and both verbal and nonverbal communication. The immune system has been suggested to be of importance for the development of neuropsychiatric symptoms; for example, elevated levels of cytokines and the inflammation-related transcription factor nuclear factor kappa-B (NFKB) have been reported in autistic individuals. The aim of this study was to investigate possible associations between single nucleotide polymorphisms (SNPs) in NFKB and NFKB inhibitor-like protein 1 (NFKBIL1) and autistic-like traits in a Swedish population of twins. Methods The subjects in this study (n=12426, 9-12 years old) are from “The Child and Adolescent Twin Study in Sweden” (CATSS). Their parents participated in a telephone interview where the children were assessed by the Autism-Tics, ADHD, and Other Comorbidities Inventory (A-TAC) where autistic-like traits are measured using a continuous scale. DNA was extracted from saliva samples and polymorphisms were genotyped. Statistical analyses were performed in the SAS 9.3 (SAS Institute, Inc., Cary, NC) softwear. Results Four out of the five investigated SNPs (NFKB: rs4648022; NFKBIL1: rs2230365, 2239797 and rs2857605) showed significant associations with the A-TAC total autistic-like traits score. Conclusions To our best knowledge, polymorphisms in the genes encoding NFKB and NFKBIL1 have not been studied previously in relation to autism. These proteins may be involved in neuronal development and our findings support the hypothesis of the immune system being important in the aetiology of neuropsychiatric symptoms.
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