Genomic News and Research

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Genetic cause behind novel DEE syndrome discovered

Autism and epilepsy are two highly prevalent conditions that fall under the umbrella of neurodevelopmental disorders (NDD), which affect 1–3% of the world’s population just in terms of cognitive disabilities.

20 Dec 2022

Analyzing progenitor fate and dynamics long after embryonic development

According to Johns Hopkins Medicine researchers, they have devised a computer model called quantitative fate mapping that looks back in time to track the origin of cells in a fully grown organism.

14 Dec 2022

Preventing protein-protein interactions with a new tool

Proteins constantly interact with one another inside cells to perform various tasks. Blocking the binding of two or more proteins appears as a potential treatment for some diseases where these functions are altered.

1 Dec 2022

Research could advance our understanding of evolution and the origins of cell motility

The origin of all biological movements, including walking, swimming, or flying, can be traced back to cellular movements; however, little is known about how cell motility arose in evolution.

1 Dec 2022

Revealing the mechanism that ensures genome stability in normal cells

To create new cells, the old cells must divide. This is a constant, frequent, and pervasive process that begins with conception and culminates with death.

30 Nov 2022

Importance of localizing BRCA gene mutations for ovarian cancer treatment

Mutations in the BRCA1 and BRCA2 genes, which are inherited by 1 in 400 and 1 in 800 persons, respectively, elevate the risk of various malignancies such as ovarian, breast, pancreatic, and prostate cancer considerably.

30 Nov 2022

Newly developed tool helps snip out faulty genes in a safe manner

Scientists from the Massachusetts Institute of Technology (MIT) have come up with a new tool that has the potential to detach faulty genes and exchange them with new ones in a highly safe and effective way.

From Massachusetts Institute of Technology (MIT) 25 Nov 2022

Fastest-evolved regions of the human genome diverged rapidly after split from chimpanzee ancestor

A team of Duke researchers has identified a group of human DNA sequences driving changes in brain development, digestion and immunity that seem to have evolved rapidly after our family line split from that of the chimpanzees, but before we split with the Neanderthals.

24 Nov 2022

New effort to generate high quality reference genomes for 1,000 known species of euglenoids

The Euglena International Network (EIN) (https://euglenanetwork.org/), founded in 2020, is a global consortium of hundreds of scientists around the world with the collective goal of supporting euglenoid science through collaborative and integrative omics between academics and industry.

23 Nov 2022

The influence of genes and small molecules on personal disease risk

Each individual has a unique chemical fingerprint. Small molecules in the blood, like fats or sugars, have a significant impact on how the human body responds to stress, which diseases people are predisposed to, and how serious an illness will be.

23 Nov 2022

Revealing the functional significance of DDX41 in great detail

The DDX41 gene encodes the nuclear enzyme DEAD-box-type RNA helicase. Hematopoietic malignancies are caused by DDX41 mutations. However, the mechanism behind the development of this malignancy remains unknown.

21 Nov 2022

New guidelines for genomic consent benefit patients and researchers

How can Canada maximize the benefits of human genomic sequencing to deepen knowledge of disease? For researchers and decision-makers in this expanding field, new guidance published in CMAJ (Canadian Medical Association Journal) establishes the essential components for obtaining patient consent.

16 Nov 2022

Revealing cancer development in people carrying inherited BRCA1 mutations

Researchers from Weill Cornell Medicine have discovered that people who inherit a mutant copy of the BRCA1 gene may develop mutations and cancer due to error-prone DNA replication and repair.

16 Nov 2022

New study figures out which patients will react to immunotherapy

According to a new study, patients with head and neck cancer who have more chromosome 9 genetic material in their cancer cells survive three times longer after accepting immunotherapy than patients who have less of it.

From New York University (NYU) 15 Nov 2022

Statistical methodology uncovers changes in genomic data

A novel statistical technique makes it easier to find biologically significant changes in genomic data that span multiple conditions, like cell types or tissues.

From Penn State University 15 Nov 2022

New insights into the genetics underlying autism spectrum

At The Hospital for Sick Children (SickKids), scientists have untangled new genes and genetic changes linked to autism spectrum disorder (ASD) in the biggest autism whole genome sequencing analysis so far.

14 Nov 2022

Multidisciplinary analysis of WGS improves diagnostic rates

The NHS Genomic Medicine Service, launched by the Department of Health in the United Kingdom in 2018, enables patients with unusual conditions to have their complete genetic code evaluated in the hopes of gaining a critical diagnosis.

From University College London 8 Nov 2022

Role of p53-mediated metabolism in preventing genomic instability

The gene that codes for the protein p53 is most likely the most significant factor in defending human cells against DNA-damaging agents that cause cancer. The protein permits cells to repair DNA damage and so prevents the formation of malignancies, earning it the nickname “guardian of the genome.”

4 Nov 2022

RNA-edited regions in brain shed light on neurodevelopment and disease

Numerous sites in the brain where RNA is altered over the course of a person’s lifespan through a process known as adenosine-to-inosine (A-to-I) editing have been identified by Mount Sinai researchers.

3 Nov 2022