News & Comment

The 11^th International Conference on Rare Diseases and Orphan Drugs (ICORD), South Africa, included the Africa-Rare initiative launch and facilitated multi-stakeholder engagement in the challenges facing, and opportunities for, Africans living with rare diseases. The following ICORD Global Call to Action, developed in collaboration with the International Rare Diseases Research Consortium, synthesizes the outcomes of the deliberations and emphasizes the international collaborative efforts required to address the global effects of rare diseases on public health.

As the year comes to a close and we start to look ahead to 2020, we thought that we would highlight some of our favorite Nature Genetics papers from 2019. This snapshot also captures some of the topics and themes in genetics that we are most excited to see develop in the near future.

Ancestral and geographical issues underlie the need to develop Africa-specific guidelines for the return of genomics research results in Africa. In this Commentary, we outline the challenges that will inform policies and practices in the future.

Popular crop plants have been bred and selected for desirable taste and color traits. Genomic approaches are increasingly being used to provide insights into the origins, evolution and biology of our favorite foods. Large-scale sequencing efforts have brought agriculture genomics into the big-data era, leading to sweet rewards.

A fundamental problem in rare-disease diagnostics is the lack of consensus as to which genes have sufficient evidence to attribute causation. To address this issue, we have created PanelApp (https://panelapp.genomicsengland.co.uk), a publicly available knowledge base of curated virtual gene panels.

A generic framework for providing participant information and implementing a tiered consent process for health genomic research in Africa can help to harness global health benefits from sharing and meta-analysis of African genomic data while simultaneously respecting and upholding the autonomy and individual choices of African research participants.

Understanding how to biologically interpret the loci identified in genome-wide association studies is a major goal of current genetics research. To achieve this goal, we need to understand where, when and how relevant genes are expressed in specific contexts, in order to explore the mechanistic links between genetic associations and diseases or complex traits.

To increase the utility of Gene Ontology (GO) annotations for interpretation of genome-wide experimental data, we have developed GO-CAM, a structured framework for linking multiple GO annotations into an integrated model of a biological system. We expect that GO-CAM will enable new applications in pathway and network analysis, as well as improve standard GO annotations for traditional GO-based applications.

The genome of the model genetic organism Pisum sativum, or pea plant, links nineteenth-century genetics to twenty-first-century genomics, serving as a symbol of how far the genetics field has developed and how greatly technologies have advanced. Almost every student’s introduction to genetics currently involves learning Mendel’s laws; we envision that genomics and genome sequencing will become just as foundational in the education of future geneticists.

Record high temperatures are being seen worldwide, thus placing strains on human health and disrupting the availability of essential resources such as food and water. Aberrant weather patterns in the form of intense storms or prolonged drought have put pressure on our agricultural systems and underscored the need for adaptation to a changing climate across many sectors. Complex problems require complex solutions, and genetic approaches could be a powerful tool for helping to mitigate the effects of climate change.

We are constantly amazed by the power of genetics and its ability to solve complex and seemingly intractable problems. The creative application of genetic and genomic analyses to diverse areas has led to advances across basic biology and human disease. We hope to continue to see technologies develop that expand the genetic and genomic toolkit and that bring new discoveries and insights into basic and applied research.

In the field of infectious diseases, genomics can be a useful tool for guiding vaccine development. Given the inevitability and increasing prevalence of antibiotic resistance, vaccines against pathogenic microbes can be even more valuable than antibiotics as a strategy to prevent serious or deadly infectious diseases. Genomic resources from global analysis of large numbers of clinical isolates can serve as a basis for identifying appropriate candidates for vaccine antigens, and we encourage continued efforts in the generation of pan-genome sequences for bacterial or viral pathogens.

The field of cancer genomics is currently in an exciting and fast-paced era. With advances in sequencing technologies, computational approaches and tumor models, understanding of cancer processes is at an all-time high, and the application of new methods to studying cancer holds great promise for developing important breakthroughs in cancer treatment and prevention.