Behavioural Genetics in Criminal Cases: Past, Present and Future

Researchers studying human behavioral genetics have made significant scientific progress in enhancing our understanding of the relative contributions of genetics and the environment in observed variations in human behavior. Quickly outpacing the advances in the science are its applications in the criminal justice system. Already, human behavioral genetics research has been introduced in the U.S. criminal justice system, and its use will only become more prevalent. This essay discusses the recent historical use of behavioral genetics in criminal cases, recent advances in two gene variants of particular interest in the criminal law, MAOA and SLC6A4, the recent expert testimony on behalf of criminal defendants with respect to these two gene variants, and the future direction of behavioral genetics evidence in criminal cases

Misinformation, Misrepresentation, and Misuse of Human Behavioral Genetics Research

Kaplan discusses the limitations of human behavioral genetics studies, highlighting the research limitations inherent in studying humans and the narrow policy and legal applicability of results arising from behavioral genetics studies

Genetics of human neural tube defects

Neural tube defects (NTDs) are common, severe congenital malformations whose causation involves multiple genes and environmental factors. Although more than 200 genes are known to cause NTDs in mice, there has been rather limited progress in delineating the molecular basis underlying most human NTDs. Numerous genetic studies have been carried out to investigate candidate genes in cohorts of patients, with particular reference to those that participate in folate one-carbon metabolism. Although the homocysteine remethylation gene MTHFR has emerged as a risk factor in some human populations, few other consistent findings have resulted from this approach. Similarly, attention focused on the human homologues of mouse NTD genes has contributed only limited positive findings to date, although an emerging association between genes of the non-canonical Wnt (planar cell polarity) pathway and NTDs provides candidates for future studies. Priorities for the next phase of this research include: (i) larger studies that are sufficiently powered to detect significant associations with relatively minor risk factors; (ii) analysis of multiple candidate genes in groups of well-genotyped individuals to detect possible gene–gene interactions; (iii) use of high throughput genomic technology to evaluate the role of copy number variants and to detect ‘private’ and regulatory mutations, neither of which have been studied to date; (iv) detailed analysis of patient samples stratified by phenotype to enable, for example, hypothesis-driven testing of candidates genes in groups of NTDs with specific defects of folate metabolism, or in groups of fetuses with well-defined phenotypes such as craniorachischisis

Protease inhibitor (Pi) locus, fertility and twinning

In a sample of 160 Dutch twin pairs and their parents, we found that mothers of dizygotic twins had frequencies of the S and Z alleles at the protease inhibitor (Pi) locus that were 3 times higher than a control sample. Mothers of identical twins also had a higher frequency of S than controls. The S allele may thus both increase ovulation rate and enhance the success of multiple pregnancies. There was also an increased frequency of the S allele in fathers of dizygotic twins; however, this may be a secondary effect of assortative mating for family size (indicating by the number of siblings of the parents), for which a correlation of 0.2 was observed. Parents of dizygotic twins came from larger families than parents of monozygotic twins, but no effect of Pi type on family size was seen. © 1992 Springer-Verlag

Rewriting Human History and Empowering Indigenous Communities with Genome Editing Tools.

Appropriate empirical-based evidence and detailed theoretical considerations should be used for evolutionary explanations of phenotypic variation observed in the field of human population genetics (especially Indigenous populations). Investigators within the population genetics community frequently overlook the importance of these criteria when associating observed phenotypic variation with evolutionary explanations. A functional investigation of population-specific variation using cutting-edge genome editing tools has the potential to empower the population genetics community by holding "just-so" evolutionary explanations accountable. Here, we detail currently available precision genome editing tools and methods, with a particular emphasis on base editing, that can be applied to functionally investigate population-specific point mutations. We use the recent identification of thrifty mutations in the CREBRF gene as an example of the current dire need for an alliance between the fields of population genetics and genome editing

Human Genetics

http://deepblue.lib.umich.edu/bitstream/2027.42/88819/1/1987_Human_Genetics_3-5-87.pd

Webcast courses in Medical Genetics and next generation sequencing

The European School of Genetic Medicine organised the 26th Course in Medical Genetics and the 2nd Course in Next Generation Sequencing, between the 12th and 20th May 2013. Both courses were webcast live from the Bologna University Residential Centre, Bertinoro, Italy. Participants in Malta attended these courses at the University’s Medical School. The course in Medical Genetics covered various aspects of this rapidly developing field of Medicine. The different methodologies used in human genome analysis, an introduction to Next Generation Sequencing (NGS), approaches to clinical and molecular genetics, complex genetic disorders, therapy and gene regulation, were covered. The second course provided a comprehensive insight into NGS technologies, from the basics to the new world of disease gene identification by hand-held devices. It also covered insights into bioinformatics challenges, sample preservation and trans-omic studies, and new frontiers including the investigation of single cells and of the non-coding genome.peer-reviewe