#genomics

#genomics

Called AlphaGenome, the model could help scientists discover why subtle differences in our DNA put us at risk of conditions such as high blood pressure, dementia and obesity. It could also dramatically accelerate our understanding of genetic diseases and cancer. The developers of the model acknowledge it's not perfect, but experts have described it as "an incredible feat" and "a major milestone".

In her 10 years as a health-care administrator, Cheryl Prescod has seen firsthand the ways Black Canadians can feel left behind by the blanket approach sometimes taken by the country's health-care system. As executive director at the Black Creek Community Health Centre in Toronto's Jane and Finch neighbourhood. Prescod serves a diverse clientele, including a large proportion of Black and racialized individuals people who say it can be difficult to access health care that makes them feel safe and culturally respected.

Researchers have created a 'pangenome' containing the genomes of multiple potato types, something they believe can help make it easier to breed and sequence new varieties. The potato's complicated genetics has made it difficult to sequence the plant's genome, but improvements in technology have allowed the team to combine sequences, allowing them to look for subtle differences in between varieties.

Now scientists at the University of East Anglia have found that some genes related to heat stress, ageing and metabolism are behaving differently in polar bears living in south-east Greenland, suggesting they may be adjusting to warmer conditions. The researchers analysed blood samples taken from polar bears in two regions of Greenland and compared jumping genes: small, mobile pieces of the genome that can influence how other genes work. Scientists looked at the genes in relation to temperatures in the two regions and at the associated changes in gene expression.

Gidziela, A. et al. A meta-analysis of genetic effects associated with neurodevelopmental disorders and co-occurring conditions. Nat. Hum. Behav. 7, 642656 (2023). PubMed PubMed Central Google Scholar Buescher, A. V. S., Cidav, Z., Knapp, M. & Mandell, D. S. Costs of autism spectrum disorders in the United Kingdom and the United States. JAMA Pediatr. 168, 721728 (2014). PubMed Google Scholar

Longitudinal studies - which follow individuals to collect data about health, lifestyle and environment over a period of months, years or even decades - have helped researchers understand disease risk, inform prevention strategies and improve public health planning. But the majority of large-scale longitudinal research has historically taken place in Europe or North America, meaning many populations remain under-represented in the data. A new generation of longitudinal studies is aiming to better reflect population diversity - not just by recruiting from underserved groups, but by embedding community involvement, local scientific leadership and context-specific questions into their design.

NeuralTech (NTKX) has become a global leader in genomics, studying drug responses and disease while transforming bioprinted organs and food production.

Long-read sequencing (LRS) technologies have been pivotal in the human genome's completion, enhancing sensitivity for detecting structural variants and assembling haplotypes effectively.

In 2022, NIST began the Cancer Genome in a Bottle program, aiming to sequence cancer genomes for improved detection and treatment accuracy, with expectations of results in a decade.

The Synthetic Human Genome project aims to build human genetic material from scratch over the next five years to advance medical therapies by understanding DNA better.