Genetics

Researchers discover treatment option for rare genetic disorder

Researchers from the Icahn School of Medicine used a novel genetic sequencing technology to identify the genetic cause of—and a treatment for—a previously unknown severe auto inflammatory syndrome affecting an 18-year-old ...

Diseases, Conditions, Syndromes

New species of antibiotic-resistant bacteria found in infected wound

A hitherto unknown antibiotic-resistant bacteria species, in the same family as E. coli and Salmonella spp., has been found and classified in Sweden. The proposed taxonomic name of the species—the first of the new genus—is ...

Oncology & Cancer

Blood mutations could contaminate genetic analyses of tumors

Genetic mutations in blood cells that have made their way into tumors could be red herrings that mislead physicians looking for genetic changes in tumors that are helping to drive the cancer. This finding is significant because ...

Oncology & Cancer

New report: Labs differ widely in BRCA testing protocols

An international survey of genetic testing labs shows that - despite the availability of BRCA1 and BRCA2 testing for more than two decades - global protocols and standards are surprisingly inconsistent when it comes to analyzing ...

Genetics

A new mutation in kidney disease

Medullary cystic kidney disease type 1 (MCKD1) is a rare genetic kidney disease. Despite this, because it is an autosomal dominant disease, once the mutation is in a family, many family members are affected. Current diagnostic ...

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