Articles related to Medical Genetics

After diagnosis during a partial mastectomy, this patient’s estimated blood loss was 58 mL, causing anemia and requiring a red blood cell transfusion along with ventriculoperitoneal drain placement. With a substantive bleeding history before the diagnosis, what would you do next with this patient? Work her up for von Willebrand disease? Do a complete blood count test to look at platelet count, a peripheral smear to look at the morphology of the platelets, and a coagulation profile? Offer genetic testing for fibrinogen disorders? What would your next steps be? Read the full case presentation and expert opinion to see how your peers responded.

In a study in the journal Nature Cancer, the researchers found that in laboratory cell lines and tumor models novobiocin selectively killed tumor cells with abnormal BRCA1 or BRCA2 genes, which help repair damaged DNA. The drug, developed in the 1950s and largely supplanted by newer drugs, was effective even in tumors resistant to agents known as PARP inhibitors, which have become a prime therapy for cancers with DNA-repair glitches.

Messenger RNA (mRNA) is in the spotlight right now as the basis of the Moderna and Pfizer/BioNTech vaccines for COVID-19. Thanks to this newfound prominence, its profile has been raised as a powerful tool in cancer research as well. As a courier of genetic information and protein assembler, mRNA can tell scientists which genes are active within a cell and produce the proteins that alert the immune system to the presence of cancer.

There are several reasons why the COVID-19 Delta variant – responsible for the COVID crisis in India – has public health experts and doctors concerned, including its transmissibility and disease severity. You likely already know the Delta “variant of concern” is more contagious than previous variants (denoted by the Greek alphabet), but here are five other important details you should be aware of.

The 27-member petition, which is led by Dr. Linda Wastila, a professor of pharmaceutical health services research at the University of Maryland School of Pharmacy, calls the notion of approval to stimulate vaccination rates “backward logic.” The group of clinicians and researchers claim data should be from completed phase III trials, not interim results. “Slow down and get the science right,” the group wrote in a blog post published in The British Medical Journal.

The investigational new drug (IND) application is for GDX012, which also received an FDA orphan drug designation for the treatment of acute myeloid leukemia (AML). The drug’s manufacturer, GammaDelta Therapeutics, is developing the T-cell platform in partnership with Takeda and will initiate a phase I study in late 2021 that will evaluate the treatment’s safety and activity in patients with measurable residual disease-positive AML.