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De Novo Mutations may Play a Role in Male Infertility

In this interview, we speak to Dr. Miguel J. Xavier about his latest research into male infertility and how de novo mutations may play a part.

From Newcastle University 19 Nov 2021

CHOP-led network aims to unlock the genetic mysteries behind pediatric brain tumors

Unlocking the genetic mysteries behind pediatric brain tumors is at the heart of the mission of the Center for Data Driven Discovery in Biomedicine (D3b) at Children's Hospital of Philadelphia.

3 Nov 2021

Researchers discover the role of a retrotransposon in horizontal memory transfer in roundworms

When an organism encounters a threat in its environment, it is to the species' advantage to warn others of the peril.

6 Sep 2021

Researchers identify virus-derived variations in human genomes

Three geneticists from RIKEN identified previously undetected snippets of genetic material from viruses that were hidden in human DNA.

12 Aug 2021

Low representation of minority groups in genomic databases may impact therapy selection

Low representation of minority groups in public genomic databases may affect therapy selection for Black patients with cancer, according to new Mayo Clinic research published in npj Precision Oncology.

22 Mar 2021

Rare genetic variants contribute to increased risk for lung cancer

In the United States, lung cancer is the main cause of cancer death in both male and female populations.

19 Mar 2021

Testing for inherited genes can help understand future cancer risk in pediatric patients

Because cancers in children are rare, many details about their biology remain unknown. In the field of cancer genetics, there's a limited understanding of how inherited genetic changes may contribute to the formation and growth of tumors.

17 Feb 2021

Inherited genetic variation plays a role in how patients respond to cancer immunotherapy

For all their importance as a breakthrough treatment, the cancer immunotherapies known as checkpoint inhibitors still only benefit a small minority of patients, perhaps 15 percent across different types of cancer. Moreover, doctors cannot accurately predict which of their patients will respond.

11 Feb 2021

Glyphosate could be used as biomarkers to predict incurring diseases in future generations

Exposure to the widely used weed-killer glyphosate makes genetic changes to rats that can be linked to increased disease in their grandchildren and great-grandchildren, a new study has found.

10 Dec 2020

Scientists use new technology to observe DNA defects in children with Fanconi anemia

Scientists have successfully utilized a novel stem cell technology to examine the skin, specific to a group of living patients, in laboratory settings.

24 Nov 2020

Somatic mutation acts as natural gene therapy in patients with GATA2 deficiency

Researchers affiliated with the Center for Cell-Based Therapy (CTC) in Ribeirão Preto, Brazil, have identified for the first time a non-hereditary mutation in blood cells from a patient with GATA2 deficiency, a rare autosomal disease caused by inherited mutations in the gene that encodes GATA-binding protein 2 (GATA2).

18 Nov 2020

Differences in miRNA expression between sporadic and FAP-associated Desmoid tumors

Volume 11, Issue 26 of Oncotarget reported that in this study the authors studied the differences in mi RNA expression between sporadic and FAP-associated Desmoid tumors using microarray confirmed by quantitative PCR.

13 Oct 2020

Scientists explore the role of epigenetic regulator factors in embryonic development

A research team at the Max Planck Institute for Molecular Genetics in Berlin has explored the role of factors in embryonic development that do not alter the sequence of DNA, but only epigenetically modify its "packaging".

5 Aug 2020

Study shows KBTBD2 gene plays a key role in regulating insulin sensitivity

Deleting a key gene in mice in just their fat made tissues throughout these animals insulin resistant, in addition to other effects, a new study by UT Southwestern researchers shows.

24 Jul 2020

Study shows genetic factors may influence the susceptibility to COVID-19

A new Cleveland Clinic study has identified genetic factors that may influence susceptibility to COVID-19. Published today in BMC Medicine, the study findings could guide personalized treatment for COVID-19.

16 Jul 2020

Study uncovers why developing nerve cells take a wrong turn

A group of scientists from CECAD, the Cluster of Excellence 'Cellular Stress Responses in Aging-Associated Diseases,' have found a mechanism by which neurodevelopmental diseases concerning neurons can be explained: The loss of a certain enzyme, UBE2K, impeded the differentiation of stem cells by silencing the expression of genes important for neuronal differentiation and, therefore, the development and generation of neurons.

4 Jun 2020

Study shows the significance of genetics evaluation and testing for solid tumor cancers

A new study performed by Cleveland Clinic has underscored the significance of genetic testing and genetic evaluation for young adults, adolescents, and children suffering from solid tumor cancers.

6 May 2020

Large mutations may explain diverse outcomes from autism genes

Scientists have recently discovered large mutations that may explain diverse outcomes from autism genes and this story investigates further.

25 Mar 2020