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Overactive enzyme causes an inherited form of high blood pressure

A Turkish family from a village near the Black Sea first caught the attention of medical researchers in the early 1970s.

11 Jun 2020

Novel fungal compound can turn on p53 gene in cancer cells

Cancers cells use a special technique to propagate; they delete their "programmed death" gene through mutation, "forget" to die when their lifetime is over, and continue to grow instead.

11 Jun 2020

Study highlights role of EGFR mutations in predicting recurrence in lung cancer

Volume 11, Issue 22 of @Oncotarget reported that while lobectomy can improve mortality in this group, about 30 55% of patients will experience disease recurrence.

10 Jun 2020

New insights on DNA replication can help develop novel cancer treatments

A study by the Centre for Chromosome Biology at NUI Galway, Ireland, in partnership with the University of Zurich, has uncovered new insights into how the replication of DNA occurs which can be applied to help develop novel cancer treatments.

10 Jun 2020

Unique mutations could weaken Indian SARS-CoV-2 strain

A new study published on the preprint server bioRxiv in June 2020 suggests that the presence of unique mutations in the viral strains circulating in India has led to their attenuation.

9 Jun 2020

New technique to identify genes implicated in the development of malignant brain tumor

Researchers at Uppsala University have developed a method for identifying functional mutations and their effect on genes relevant to the development of glioblastoma - a malignant brain tumor with a very poor prognosis. The study is published in Genome Biology.

9 Jun 2020

Better testing could lead to improved treatments for a specific type of ovarian cancer

Scientists have found that a specific type of ovarian cancer could possibly benefit from existing platinum-based chemotherapy and new DNA repairing treatments, following better testing.

8 Jun 2020

Researchers confirm new therapeutic target for myelodysplastic syndrome

A research group from Kumamoto University, Japan analyzed the pathophysiology of myelodysplastic syndrome (MDS), a blood cancer that presents often in the elderly, and found the presence of the transcription factor RUNX3, thereby revealing a cancer growth function for what had been considered a tumor suppressor.

8 Jun 2020

Researchers discover important molecular mechanism of Charcot-Marie-Tooth disease

Charcot-Marie-Tooth (CMT) disease is the most common form of inherited neuropathies. A genetic mutation causes the insulating myelin layer of peripheral nerves to become progressively damaged, resulting in severe disabilities in the case of CMT type 4B, for instance.

8 Jun 2020

SARS-CoV-2 genome variants in India

A new study published online on the preprint server bioRxiv in June 2020 surveys the genetic diversity of SARS-CoV-2 strains in India.

7 Jun 2020

New images of LSD1 enzyme in action shed light on gene regulation

New images of an enzyme in action as it interacts with the chromosome could provide important insight into how cells--including cancer cells--regulate their genes.

5 Jun 2020

SARS-CoV-2 gene deletions may cause milder infections and increase human-to-human transmission

In their recent paper released on the bioRxiv preprint server, a research group from Spain demonstrated how genome changes and deletions in severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) could represent a strategy of natural selection used for lessening the impact of infection in order to increase viral transmission potential.

4 Jun 2020

Study offers potential targets for treating people with Ehlers-Danlos syndrome

Researchers have discovered that a defective form of the protein aortic carboxypeptidase-like protein (ACLP) from patients with Ehlers-Danlos syndrome (EDS) is retained in cells and induces cellular stress.

4 Jun 2020

Researchers treat TMC1-related deafness with gene therapy

When Wei Hsi (Ariel) Yeh was a young undergraduate student, one of her close friends went from normal hearing to complete deafness in the span of one month.

4 Jun 2020

Using advanced microscopy techniques to see single molecules of telomerase in living cells

Canadian scientists have achieved a first in the study of telomerase, an essential enzyme implicated in aging and cancer.

3 Jun 2020

New technique opens the door to treating genetic forms of hearing loss

Using a new genetic engineering technique, known as base editing, researchers from Boston Children's Hospital and the Broad Institute of MIT and Harvard, have restored hearing in mice with a known recessive genetic mutation.

3 Jun 2020

Genetic variations linked to COVID-19 severity

A new report by researchers from Thailand's Mahidol University and published on the preprint server medRxiv in May 2020 reports that the clinical severity of COVID-19 may be linked to the genetic makeup of the patient in addition to external factors.

3 Jun 2020

New test identifies CAD-affected children who may benefit from uridine

Scientists at Sanford Burnham Prebys Medical Discovery Institute and the Centro de Biología Molecular Severo Ochoa in Spain have created a test that determines which children with CAD deficiency - a rare metabolic disease - are likely to benefit from receiving uridine, a nutritional supplement that has dramatically improved the lives of other children with the condition.

3 Jun 2020

KinaRx receives SBIR grant to speed up clinical trials for AML and other diseases

Acute myeloid leukemia (AML), an aggressive blood cancer, is one of the most lethal cancers. More than 19,000 new cases are diagnosed a year, and more than 11,000 people a year die from it, according to the American Cancer Society.

3 Jun 2020

New advance addresses a big challenge with using CRISPR in cancer patients

A mutation unique to certain cancer tumors is a potential homing beacon for safely deploying CRISPR gene editing enzymes to disarm DNA that makes cancer cells resistant to treatment, while ignoring the gene in normal cells where it's critical to healthy function, according to a new study from ChristianaCare's Gene Editing Institute in the journal Molecular Cancer Research.

2 Jun 2020