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Population genetic screening shown to efficiently identify increased risk for inherited disease

A new study shows that community-based genetic screening can identify individuals at increased risk for three common inherited conditions, including Hereditary Breast and Ovarian Cancer, Lynch Syndrome, and Familial Hypercholesterolemia. The study found that up to 90% of carriers were not previously identified in a clinical setting.

SourceDesert Research Institute·JournalNature Medicine·DateJul 27, 2020

Cellular stress causes cancer cell chemoresistance

A recent study published in Nature Communications reveals the Unfolded Protein Response (UPR) regulon, a comprehensive list of genes activated to promote cell survival under stress. The researchers discovered that changes in one-carbon metabolism, relying on vitamin folate as a cofactor, contribute to chemoresistance in cancer cells.

SourceUniversity of Vienna·JournalNature Communications·DateJun 10, 2020

A step toward a better way to make gene therapies to attack cancer, genetic disorders

A UCLA-led research team has developed a new method for delivering DNA into stem cells and immune cells safely, rapidly and economically. The technique uses high-frequency acoustic waves to manipulate cells and insert cargo without damaging them, enabling the creation of gene therapies for various diseases.

SourceUniversity of California - Los Angeles·JournalProceedings of the National Academy of Sciences·DateApr 27, 2020

How many rare diseases are there?

Researchers estimate that there may be as many as 10 million people worldwide suffering from a rare disease, which is likely to hinder treatment development due to inconsistent and imprecise definitions. The study calls for a unified definition of rare diseases to improve care for patients and develop effective treatments.

SourceUniversity of New Mexico Health Sciences Center·JournalNature Reviews Drug Discovery·DateFeb 4, 2020

Personalized gene networks enhance study of disease

Researchers at Penn State College of Medicine developed a new method to model gene interactions and predict changes over time. The idopNetwork can create personalized networks for individual patients, showing complex gene connections and predicting outcomes.

SourcePenn State·Journalnpj Systems Biology and Applications·DateNov 7, 2019