One hundred years of pleiotropy: a retrospective

Pleiotropy is defined as the phenomenon in which a single locus affects two or more distinct phenotypic traits. The term was formally introduced into the literature by the German geneticist Ludwig Plate in 1910, 100 years ago. Pleiotropy has had an important influence on the fields of physiological and medical genetics as well as on evolutionary biology. Different approaches to the study of pleiotropy have led to incongruence in the way that it is perceived and discussed among researchers in these fields. Furthermore, our understanding of the term has changed quite a bit since 1910, particularly in light of modern molecular data. This review traces the history of the term "pleiotropy" and reevaluates its current place in the field of genetics.     

One hundred years ago: How to be happy though a doctor

ObjectivesTo assess the growth of quality of life measures and to examine the availability of measures across specialties.DesignSystematic searches of electronic databases to identify developmental and evaluative work relating to health outcome measures assessed by patients.Results3921 reports that described the development and evaluation of patient assessed measures met the inclusion criteria. Of those that were classifiable, 1819 (46%) were disease or population specific, 865 (22%) were generic, 690 (18%) were dimension specific, 409 (10%) were utility, and 62 (1%) were individualised measures. During 1990-9 the number of new reports of development and evaluation rose from 144 to 650 per year. Reports of disease specific measures rose exponentially. Over 30% of evaluations were in cancer, rheumatology and musculoskeletal disorders, and older people''s health. The generic measures—SF-36, sickness impact profile, and Nottingham health profile—accounted for 612 (16%) reports.ConclusionsIn some specialties there are numerous measures of quality of life and little standardisation. Primary research through the concurrent evaluation of measures and secondary research through structured reviews of measures are prerequisites for standardisation. Recommendations for the selection of patient assessed measures of health outcome are needed.

What is already known on this topic

Quality of life measures are increasingly used for measuring health outcomes in evaluative researchThere is little standardisation in the use of such measures within clinical trials

What this study adds

There has been exponential growth in reports relating to the development and evaluation of quality of life measuresThe number of reports varies considerably according to the health problem     

From Pasteur to genomics: progress and challenges in infectious diseases

Over the past decade, microbiology and infectious disease research have undergone the most profound revolution since the times of Pasteur. Genomic sequencing has revealed the much-awaited blueprint of most pathogens. Screening blood for the nucleic acids of infectious agents has blunted the spread of pathogens by transfusion, the field of antiviral therapeutics has exploded and technologies for the development of novel and safer vaccines have become available. The quantum jump in our ability to detect, prevent and treat infectious diseases resulting from improved technologies and genomics was moderated during this period by the greatest emergence of new infectious agents ever recorded and a worrisome increase in resistance to existing therapies. Dozens of new infectious diseases are expected to emerge in the coming decades. Controlling these diseases will require a better understanding of the worldwide threat and economic burden of infectious diseases and a global agenda.     

A hundred years of gemellology

Over the past hundred years, since Sir Francis Galton first pointed out its scientific value, the study of twins has considerably widened its scope and significance. Gemellology has come to represent an important branch of human genetics and to be applied to the most diverse fields of biomedical and behavioral research, besides obviously contributing to the study of the specific biological, medical, and psychological aspects of the twin condition. More recently, then, it has in turn originated a new branch of modern genetic research, chronogenetics. Finally, sponsored and coordinated by the Mendel Institute in Rome, an International Society for Twins Studies has developed.