Categoría: Articulos
-
Genetic testing and counselling of patients with monogenic amyotrophic lateral sclerosis in Northern Finland: a retrospective, single-centre study
European Journal of Human Genetics, Published online: 08 October 2026; doi:10.1038/s41431-026-02246-zGenetic testing and counselling of patients with monogenic amyotrophic lateral sclerosis in Northern Finland: a retrospective, single-…
-
Parental reactions to and preferences for genomic newborn screening in Germany: findings from a scenario-based survey experiment
European Journal of Human Genetics, Published online: 08 October 2026; doi:10.1038/s41431-026-02253-0Parental reactions to and preferences for genomic newborn screening in Germany: findings from a scenario-based survey experiment
-
Genetic testing and counselling of patients with monogenic amyotrophic lateral sclerosis in Northern Finland: a retrospective, single-centre study
European Journal of Human Genetics, Published online: 08 October 2026; doi:10.1038/s41431-026-02246-zGenetic testing and counselling of patients with monogenic amyotrophic lateral sclerosis in Northern Finland: a retrospective, single-…
-
Parental reactions to and preferences for genomic newborn screening in Germany: findings from a scenario-based survey experiment
European Journal of Human Genetics, Published online: 08 October 2026; doi:10.1038/s41431-026-02253-0Parental reactions to and preferences for genomic newborn screening in Germany: findings from a scenario-based survey experiment
-
Distinct malaria parasites may help explain sickle cell trait’s protection against disease
Malaria is one of the deadliest infectious diseases on the planet, afflicting people throughout recorded history. In places where malaria is most common, it’s shaped human evolution by driving higher rates of a paradoxically protective genetic change. …
-
Distinct malaria parasites may help explain sickle cell trait’s protection against disease
Malaria is one of the deadliest infectious diseases on the planet, afflicting people throughout recorded history. In places where malaria is most common, it’s shaped human evolution by driving higher rates of a paradoxically protective genetic change. …
-
Current age-based genetic testing in patients with cancer may miss the majority of inherited gene variants
Germline genetic screening can identify whether a patient with cancer has inherited genetic alterations in a gene or genes that are implicated in cancer. These inherited genetic alterations, known as germline pathogenic variants, can cause predispositi…
-
Current age-based genetic testing in patients with cancer may miss the majority of inherited gene variants
Germline genetic screening can identify whether a patient with cancer has inherited genetic alterations in a gene or genes that are implicated in cancer. These inherited genetic alterations, known as germline pathogenic variants, can cause predispositi…
-
Fat-storing gene emerges as possible contributor to anorexia risk
A gene primarily active in fat and muscles could make a person more susceptible to anorexia nervosa, a deadly eating disorder with one of the highest mortality rates of any psychiatric disease.
-
NHS labs fail to share data vital for diagnosis and care of rare diseases, investigation finds
Three of England’s seven NHS genetics laboratories are failing to routinely share vital information about genetic variants in public databases that helps patients with rare diseases access diagnosis and care, an investigation by The BMJ reveals.