Malaria parasite found to evade the immune system by shutting down key genes

Researchers at Weill Cornell Medicine have discovered how a parasite that causes malaria when transmitted through a mosquito bite can hide from the body’s immune system, sometimes for years. It turns out that the parasite, Plasmodium falciparum, can shut down a key set of genes, rendering itself “immunologically invisible.” “This finding provides another piece of … Read more

Two genetic variants linked to breast cancer discovered in black South African women

Genetic factors contribute to some 30% of breast cancer cases in SA, necessitating investment in genomic research in African contexts. A seminal genetic study published in Nature Communication has discovered two genetic variants linked to breast cancer in black South African women, deepening knowledge about the genetic basis for this disease in African populations. The genome-wide association … Read more

Injecting medicine into amniotic fluid shows promise for treating genetic disorders

Injecting medicine into the amniotic fluid staves off progression of spinal muscular atrophy in utero.  Evidence is mounting that clinicians can treat serious genetic disorders prenatally by injecting medicine into the amniotic fluid, thus preventing damage that begins in utero. A UC San Francisco-led study found that delivering medicine for spinal muscular atrophy (SMA) via … Read more

DiffInvex identifies key genes driving chemotherapy resistance

Just as species adapt over generations, our body’s cells accumulate DNA changes throughout life. Most are harmless, yet a few “driver” mutations give a cell a competitive edge and can spark cancer. Chemotherapy then adds a new evolutionary pressure, encouraging further genetic changes that let tumors bounce back. Researchers at IRB Barcelona have developed DiffInvex, … Read more

Newly identified gene mutation causes severe form of Fanconi anemia

Fanconi anemia is an aggressive, life-threatening disorder. Most individuals living with this rare genetic condition, characterized by bone marrow failure and cancer predisposition, survive into adulthood only with bone marrow transplantation and regular cancer screening. But a new study demonstrates that mutations in one particular gene in the Fanconi anemia pathway result in an even … Read more

Machine learning model guides smarter gene selection in newborn screening

More than a decade ago, researchers launched the BabySeq Project, a pilot program to return newborn genomic sequencing results to parents and measure the effects on newborn care. Today, over 30 international initiatives are exploring the expansion of newborn screening using genomic sequencing (NBSeq), but a new study by researchers from Mass General Brigham highlights … Read more

New RNA-based blood test offers insight into cancer and tissue damage

Stanford Medicine researchers have developed a blood test capable of detecting cancers, the ways cancer resists treatments and tissue injury caused by non-cancerous conditions. The new test analyzes RNA molecules in the bloodstream. This type of RNA is called cell-free RNA because the tiny molecules no longer inhabit a cell. There are always fragments of … Read more

Cells Hear Sound: New Study Reveals Cellular Sensitivity

Sound’s Surprising Impact: Cells Respond to Acoustic Waves Imagine the deep resonance felt near a roaring jet engine or the thrumming bass at a concert. It’s more than just hearing; it’s a sensation that permeates your entire being. new research suggests this feeling is not just psychological but also cellular. Scientists are discovering that sound, … Read more

New genetic clues uncovered in epilepsy drug resistance

Certain common genetic changes might make some people with focal epilepsy less responsive to seizure medications, finds a new global study led by researchers at UCL and UTHealth Houston. Focal epilepsy is a condition where seizures start in one part of the brain. It is the most common type of epilepsy. Antiseizure medication is usually … Read more