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The role of maternal age in chromosomal non-disjunction was investigated by studying 51 families in whom the origin of the meiotic anomaly had been identified. Results of this study were compared with previously published data. This comparison did not show any difference in mean maternal age, nor in distribution of maternal ages when the origin of non-disjunction was maternal, or paternal, or occurred at the first or second meiotic division. These results make questionable the role of maternal age in the birth of Down's syndrome children. [ABSTRACT FROM PUBLISHER]

The last few years have witnessed an important expansion of human DNA sampling and data collecting. This activity has strategic importance for genetic research, clinical care and future treatments. Collections should be maintained and their use optimized. Human DNA, tissue or cell collections and the attached databases have been extensively exchanged for scientific purposes. Collections and databases are expensive to establish and maintain. They are of high interest to scientists, to industrial partners, to health care professionals and ultimately for the community. It is difficult to separate public and private research, as researchers from both sectors are often involved in the same project.

Genetic screening is increasingly possible for a large number of disorders. The question of whether or not this approach should be offered at the population level is a challenge to health-care providers, the medical community and policy makers. Genetic screening can be of benefit but can also do harm. Screening may be concerned with the general population or with specific subpopulations defined on some basis other than their health. Before starting any population genetic screening programme, all alternative options have to be explored.

The article discusses various issues related to genetic services in Europe. The rapid development of the understanding of molecular genetics has permitted a better understanding of the pathogenesis of a growing number of diseases and has changed the way in which one think about health and illness. It has also created new possibilities of diagnosing genetic disorders prenatally offering predictive tests for family members and detecting carriers of mutations at the population level. The aim of a genetic service is to respond to the needs of individuals and families who are threatened by genetic disease, particularly their wish to know whether or not they are at risk of developing or transmitting a disorder with a genetic component.

One of the more complex policy issues accompanying developments in genetic knowledge relates to how personal genetic information, such as the results of genetic tests, are to be used. Basic insurance is an essential element of social structure. The definition of what constitutes basic needs should be subject to policy discussions, and must be a matter of social and political negotiation within each country. Consumer and commercial confidence in the validity of the use of genetic information in underwriting will be best maintained by the use of an independent review system.

Background and Purpose: Rare diseases affect up to 29 million people in the European Union, and almost 50% of them affect the nervous system or muscles. Delays in diagnosis and treatment onset and insufficient treatment choices are common. Clinical practice guidelines (CPGs) may improve the diagnosis and treatment of patients and optimize care pathways, delivering the best scientific evidence to all clinicians treating these patients. Recommendations are set for developing and reporting high-quality CPGs on rare neurological diseases (RNDs) within the European Academy of Neurology (EAN), through a consensus procedure., Methods: A group of 27 experts generated an initial list of items that were evaluated through a two-step Delphi consensus procedure and a face-to-face meeting. The final list of items was reviewed by an external review group of 58 members., Results: The consensus procedure yielded 63 final items. Items are listed according to the domains of the AGREE instruments and concern scope and purpose, stakeholder involvement, rigour of development, and applicability. Additional items consider reporting and ethical issues. Recommendations are supported by practical examples derived from published guidelines and are presented in two tables: (1) items specific to RND CPGs, and general guideline items of special importance for RNDs, or often neglected; (2) items for guideline development within the EAN., Conclusions: This guidance aims to provide solutions to the issues specific to RNDs. This consensus document, produced by many experts in various fields, is considered to serve as a starting point for further harmonization and for increasing the quality of CPGs in the field of RNDs., (© 2022 European Academy of Neurology.)

Rare disease registries (RDRs) are an essential tool to improve knowledge and monitor interventions for rare diseases. If designed appropriately, patient and disease related information captured within them can become the cornerstone for effective diagnosis and new therapies. Surprisingly however, registries possess a diverse range of functionality, operate in different, often-times incompatible, software environments and serve various, and sometimes incongruous, purposes. Given the ambitious goals of the International Rare Diseases Research Consortium (IRDiRC) by 2020 and beyond, RDRs must be designed with the agility to evolve and efficiently interoperate in an ever changing rare disease landscape, as well as to cater for rapid changes in Information Communication Technologies. In this paper, we contend that RDR requirements will also evolve in response to a number of factors such as changing disease definitions and diagnostic criteria, the requirement to integrate patient/disease information from advances in either biotechnology and/or phenotypying approaches, as well as the need to adapt dynamically to security and privacy concerns. We dispel a number of myths in RDR development, outline key criteria for robust and sustainable RDR implementation and introduce the concept of a RDR Checklist to guide future RDR development.