Genomics News and Research

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Genomics is the study of the complete genetic material, including genes and their functions, of an organism.

First cell-type specific multiomic study of the HIV brain

Researchers identify cell-type-specific differences in HIV integration sites in the brain.

19 Dec 2022

ACMG's new guideline strongly recommends the use of noninvasive prenatal screening for fetal chromosome abnormalities

The American College of Medical Genetics and Genomics (ACMG) has released a new Evidence-Based Clinical Practice Guideline (EBG), "Noninvasive prenatal screening for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics."

16 Dec 2022

NEJM study shows hidden genetic anomaly behind common late-onset cerebellar ataxia

Researchers at the University of Miami Miller School of Medicine, McGill University and other institutions have found that a well-concealed genetic variation in the gene FGF14, called a DNA tandem repeat expansion, causes a common form of late-onset cerebellar ataxia, a brain disorder that interferes with coordinated movement.

16 Dec 2022

New mutations near known genes could contribute to the increase in cleft lip and palate risk

Cleft lip and palate are among the most common congenital malformations, which are mainly due to genetic causes.

16 Dec 2022

Study reveals subtypes and EBV-associated regulatory epigenome reprogramming in nasopharyngeal carcinoma

Researchers from the Department of Clinical Oncology, School of Clinical Medicine, LKS Faculty of Medicine, The University of Hong Kong (HKUMed) discovered a novel subtype of Epstein-Barr Virus (EBV)-positive nasopharyngeal carcinoma (NPC) and EBV-associated immunosuppression in the tumor microenvironment (TME).

16 Dec 2022

Next-generation sequencing could change research on sexual assault cases

In this interview, Alexis Garloff talks to NewsMedical about her next-generation sequencing research and the possible applications in forensics, particularly in sexual assault cases.

From Verogen, Inc. 16 Dec 2022

Natural substances show great therapeutic potential to inhibit influenza viruses

Fever, cough, sore throat, and general malaise - the cold season is here, and not only corona but also influenza viruses are spreading again at a rapid pace.

16 Dec 2022

mRNA vaccine methodologies: Production, value and spectrometer use

To be decided by the editor

From Thermo Fisher Scientific – Pharmaceutical and Biopharmaceutical Solutions 16 Dec 2022

Assessing clinical adoption of 2017 guidelines for interpretation and reporting of sequence variants in cancer

The Association for Molecular Pathology (AMP), the premier global molecular diagnostic professional society, has published a report that was designed to assess clinical adoption, identify classification inconsistencies, and evaluate implementation barriers for the 2017 report, "Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer: A Joint Consensus Recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists.

15 Dec 2022

New clue may explain why women are at greater risk for Alzheimer's disease

Scientists at Scripps Research and Massachusetts Institute of Technology (MIT) have found a clue to the molecular cause of Alzheimer's - a clue that may also explain why women are at greater risk for the disease.

15 Dec 2022

Study uncovers a new immune culprit in Alzheimer’s disease

The reason your three-pound brain doesn't feel heavy is because it floats in a reservoir of cerebrospinal fluid (CSF), which flows in and around your brain and spinal cord.

13 Dec 2022

NIH's All of Us Research Program begins returning personalized health-related DNA results to participants

The National Institutes of Health's All of Us Research Program has begun returning personalized health-related DNA results to more than 155,000 participants, with reports detailing whether participants have an increased risk for specific health conditions and how their body might process certain medications.

13 Dec 2022

RNA-targeting CRISPR technology alleviates disease-related phenotypes in Huntington’s models

Huntington's disease (HD) is a neurological disorder that causes progressive loss of movement, coordination and cognitive function.

12 Dec 2022

CRISPR/Cas9-engineered avatar mouse model of rare disease paves the way for targeted therapy

An international research team led by Dr Ana Guadaño at the Alberto Sols Biomedical Research Institute (IIBM, a combined CSIC-UAM center) and involving the Complutense University of Madrid (UCM), used CRISPR gene editing techniques to incorporate into the mice a mutation of the MCT8 protein responsible for transporting thyroid hormones to the interior of the cell.

12 Dec 2022

Scientists use single-cell multi-omics data to map disease regulatory circuits

Researchers apply MAGICAL for the identification of modulated host response regulatory circuits in response to Staphylococcus aureus.

12 Dec 2022

How human cell atlases provide the missing links between genes, diseases and therapies

A Nature Medicine journal perspective article describes the potential of cell atlases in shaping the future of medicine. Providing the missing link between genes and diseases, single-cell atlases make it possible to develop more precise and specific diagnostic tools by understanding the mechanisms of complex diseases.

12 Dec 2022

Many genetic disorders respond well to specialized gene therapy

When the normal DNA sequence in an individual changes or mutates it can cause disease. The mutation may involve multiple genes and may be caused by environmental factors, or there may be chromosomal defects that are harmful at birth, in infancy or environment at a later stage.

12 Dec 2022

Structural studies pave the way for cancer drugs that could target only mutated versions

To design drugs that stall the growth of aggressive cancers, it helps to know the structures of the proteins that are revving the cancers' engines.

9 Dec 2022

Overexpression of lncRNA MVIH may serve as a potential diagnostic biomarker in cervical cancer

A new research paper was published in Genes & Cancer on November 23, 2022, entitled, "Ectopic expression of lncRNA MVIH as a potential diagnostic biomarker in cervical cancer."

9 Dec 2022

Scientists trace how livestock systems act as a reservoir for antimicrobial-resistant bacteria

Scientists from the International Livestock Research Institute (ILRI), the University of Liverpool, the University of Edinburgh and elsewhere have traced how livestock systems act as a reservoir for antimicrobial-resistant (AMR) bacteria and AMR genetic determinants that may infect or colonize people.

9 Dec 2022

Genomics News and Research

Further Reading

First cell-type specific multiomic study of the HIV brain

ACMG's new guideline strongly recommends the use of noninvasive prenatal screening for fetal chromosome abnormalities

NEJM study shows hidden genetic anomaly behind common late-onset cerebellar ataxia

New mutations near known genes could contribute to the increase in cleft lip and palate risk

Study reveals subtypes and EBV-associated regulatory epigenome reprogramming in nasopharyngeal carcinoma

Next-generation sequencing could change research on sexual assault cases

Natural substances show great therapeutic potential to inhibit influenza viruses

mRNA vaccine methodologies: Production, value and spectrometer use

Assessing clinical adoption of 2017 guidelines for interpretation and reporting of sequence variants in cancer

New clue may explain why women are at greater risk for Alzheimer's disease

Study uncovers a new immune culprit in Alzheimer’s disease

NIH's All of Us Research Program begins returning personalized health-related DNA results to participants

RNA-targeting CRISPR technology alleviates disease-related phenotypes in Huntington’s models

CRISPR/Cas9-engineered avatar mouse model of rare disease paves the way for targeted therapy

Scientists use single-cell multi-omics data to map disease regulatory circuits

How human cell atlases provide the missing links between genes, diseases and therapies

Many genetic disorders respond well to specialized gene therapy

Structural studies pave the way for cancer drugs that could target only mutated versions

Overexpression of lncRNA MVIH may serve as a potential diagnostic biomarker in cervical cancer

Scientists trace how livestock systems act as a reservoir for antimicrobial-resistant bacteria

The art of CRISPR: The power and promise of gene editing eBook

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