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Genetics news

Oncology & Cancer

Mutation yields hot new clues for treating immune 'cold' tumors

Immune checkpoint inhibitors (ICIs) emerged in the US about 15 years ago as an exciting class of cancer treatments that have achieved complete and durable remissions for thousands of people with end-stage metastatic cancers. ...

Genetics

Common genetic causes across motor neuron diseases identified

Motor neuron diseases, such as amyotrophic lateral sclerosis (ALS) and hereditary spastic paraplegia (HSP), share physical similarities but have been largely viewed as genetically distinct. However, an analysis led by investigators ...

Genetics

MAGIC: AI-assisted 'laser tag' illuminates cancer origins

The human body relies on precise genetic instructions to function, and cancer begins when these instructions get scrambled. When cells accumulate genetic errors over time, they can break free of the normal controls on their ...

Genetics

3D genome mapping tool reveals hidden complexity in DNA

Standard laboratory tests can fail to detect many disease-causing DNA changes. Now, a novel 3D chromosome mapping method can reliably reveal these hidden structural variants and lead to new discoveries.

Genetics

Previously unknown genetic cause of microcephaly identified

Microcephaly is a congenital malformation that leads to a significantly reduced brain size and is often accompanied by developmental delay. An international research team led by Dr. Tran Tuoc from the Department of Human ...

Genetics

New world record set for fastest human whole genome sequencing

Boston Children's Hospital, along with Broad Clinical Labs and Roche Sequencing Solutions, has demonstrated that rapid genomic sequencing and interpretation are achievable in a matter of hours. This milestone not only sets ...

Genetics

Preclinical study identifies genetic misfire in lupus

Cedars-Sinai investigators have identified a "molecular switch" on a gene strongly associated with the autoimmune disease lupus, which appears to propel immune cells into overdrive, attacking and damaging healthy tissues ...

Genetics

Newborn genomic screening can enable more lifesaving diagnoses

Adding genomic sequencing to newborn blood screening would detect hundreds of additional childhood conditions, providing much earlier diagnosis and treatment, according to a new study. A baby's genome, which stays with them ...