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What was the prevalence of germline genetic testing among patients diagnosed with cancer in California and Georgia between 2013 and 2019?

Researchers performed an observational study to determine the prevalence of germline genetic testing among all patients aged 20 years or older diagnosed with cancer between January 1, 2013, and March 31, 2019, in two United States, California and Georgia.

8 Jun 2023

Newborn genome sequencing project identifies unanticipated disease risks

Genomic sequencing of newborns reveals unanticipated genetic risks, prompting actionable medical interventions and potential life-saving care for infants and their families. This study highlights the value of comprehensive sequencing in newborns for early detection and management of genetic conditions.

7 Jun 2023

Parasite-host "coupling" mechanism could lead to new treatments for malaria

Transmitted through infected mosquitos, the malaria parasite, once in the human bloodstream, synchronously ruptures red blood cells and rapidly infects new red blood cells, beginning the cycle anew.

7 Jun 2023

ATTR amyloidosis cardiomyopathy can be reversed, study reports

Three men who had heart failure caused by the build-up of sticky, toxic proteins are now free of symptoms after their condition spontaneously reversed in an unprecedented case described by a team at UCL (University College London) and the Royal Free Hospital.

7 Jun 2023

Scientists uncover key molecular culprit in ALS: PEG10 gene implicated in pathogenesis

UBQLN2 dysfunction in ALS leads to elevated PEG10 levels, suggesting a role for retrotransposon activity in the disease. PEG10's nuclear localization alters gene expression involved in axon remodeling, implicating it as a contributing mechanism in ALS.

7 Jun 2023

Unlocking the complete potential of industrial hemp using genomics

Plant biologist Alex Harkess, PhD, and his lab at HudsonAlpha Institute for Biotechnology are on a mission to change the future of food and fiber crops, one flowering plant species at a time.

7 Jun 2023

New insights into the mechanisms underlying progression of Huntington's disease

New research led by a University of Ottawa Faculty of Medicine team is providing compelling insights into the mechanisms underlying the progression of Huntington's disease in an animal model.

7 Jun 2023

Patients with high-risk chronic lymphocytic leukemia may benefit from treatment with ibrutinib plus venetoclax

First-line ibrutinib (Imbruvica) plus venetoclax (Venclexta) led to high response and survival rates in patients with chronic lymphocytic leukemia (CLL) whether or not their cancer harbored high-risk genetic features typically associated with poor outcomes, according to results published in Clinical Cancer Research, a journal of the American Association for Cancer Research (AACR).

7 Jun 2023

Gene drive technology could help eradicate malaria

Population-level changes in the genetic make-up of one of the world's deadliest animals could provide a key in the fight against malaria, proponents of a radical new technology argue.

7 Jun 2023

Promising targeted therapy offers new hope to certain patients with advanced pancreatic cancer

A promising new targeted cancer therapy will soon be available to certain patients with advanced pancreatic cancer – from the comfort of their home.

7 Jun 2023

Participation in physical activity should be promoted in those with high genetic risk of type two diabetes

Study aimed to understand whether there is a dose-response association between physical activity and incident type 2 diabetes.

7 Jun 2023

Differences in tumor mutation burden are a major reason for divergence: Study

The expected course of a patient's cancer prognosis has traditionally been judged by its type, stage and microscopic aggressiveness, but patients with the same presentation can still have widely divergent outcomes. Researchers from Vanderbilt-Ingram Cancer Center have discovered that differences in tumor mutation burden are a major reason for this divergence.

7 Jun 2023

New deep learning model lays the foundation for specialized diagnostic models

Mount Sinai researchers have developed an innovative artificial intelligence (AI) model for electrocardiogram (ECG) analysis that allows for the interpretation of ECGs as language. This approach can enhance the accuracy and effectiveness of ECG-related diagnoses, especially for cardiac conditions where limited data is available on which to train.

7 Jun 2023

Spinal neural circuit dysfunction mediates movement symptoms in dystonia

Many neurological conditions that involve involuntary muscle contractions have long been considered as diseases of the brain.

6 Jun 2023

SickKids scientists shine light on the complex genetics that underlie blood pressure regulation

Scientists at The Hospital for Sick Children (SickKids) are delving deep into the non-coding genome to unravel the complex genetics that underlie blood pressure regulation and hypertension (high blood pressure) – the leading cause of cardiovascular disease affecting 1.25 billion people worldwide.

6 Jun 2023