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PARK2 duplication or microdeletion and neurological diseases

In a recent study published in the Genes journal, researchers assessed the impact of PARK2 duplication or microdeletion on neurological diseases such as Parkinson's.

28 Feb 2023

Largest genomic study focuses on the prognosis of metastatic pheochromocytomas

Pheochromocytoma is a rare tumor, with an incidence of three to eight cases per million population per year.

28 Feb 2023

The rapid diagnosis of drug-resistant and drug-sensitive tuberculosis using mass spectrometry and machine learning

In a recent study posted to the Preprints with The Lancet SSRN* server, a team of researchers in China developed a machine learning-based diagnostic tool to detect tuberculosis and drug-resistant tuberculosis using nanoparticle-enhanced laser desorption/ionization mass spectrometry (NPELDI MS) to determine metabolic fingerprints from serum samples.

28 Feb 2023

Rare Diseases Action Plan for England focuses on providing better care and reducing health inequalities

A new Rare Diseases Action Plan for England will be published today (Tuesday 28 February) that will ensure those living with these conditions receive better care and treatment, fairer access to testing and have continued support.

28 Feb 2023

Tecan and Oxford Nanopore build alliance to create automated, seamless and fully compatible nanopore sequencing library preparation for any-length fragments of native DNA/RNA

The Tecan Group and Oxford Nanopore Technologies plc (Oxford Nanopore) today announce their collaboration to drive easier high-throughput nanopore library preparation in an automated, hands-free fashion.

From Tecan 27 Feb 2023

Does a negative COVID-19 test before air travel reduce the spread of COVID-19 transmission during and after travel?

Researchers assessed the impact of pre-departure testing on SARS-CoV-2-positivity rates post-arrival among international travelers.

27 Feb 2023

What is the effect of maternal circulating amino acids on offspring birthweight?

Researchers examined the effect of serum levels of 20 amino acids in a mother during pregnancy on offspring birthweight in a two-sample summary data Mendelian randomization framework.

27 Feb 2023

Study findings likely to guide the design of engineered TAPBPR variants with tailored HLA specificity

Researchers at Children's Hospital of Philadelphia (CHOP) have identified variants of a chaperone molecule that optimizes the binding and presentation of foreign antigens across the human population, which could open the door to numerous applications where robust presentation to the immune system is important, including cell therapy and immunization. The findings were published today in Science Advances.

24 Feb 2023

Research identifies proteins that may contribute to onset of common metabolic diseases

New research has identified hundreds of proteins that might contribute to the onset of common, chronic metabolic diseases such as type 2 diabetes, and consequently pathways to potential treatments.

24 Feb 2023

NHS COVID-19 contact tracing app worked well during the pandemic, research says

A team of experts at the Pandemic Sciences Institute at the University of Oxford and Department of Statistics at the University of Warwick estimate the NHS COVID-19 app prevented around 1 million cases, 44,000 hospitalizations and 9,600 deaths during its first year.

24 Feb 2023

Roadmap outlines a framework for moving COVID-19 vaccines forward

Researchers presented the coronavirus vaccines research and development roadmap to promote the development of broadly protective COVID-19 vaccines.

24 Feb 2023

Predicting the likelihood of kidney cancer recurrence by looking at DNA mutations

A decade-long international study into kidney cancer has shown that doctors can predict the likelihood of a patient's disease returning by looking at DNA mutations in their tumors.

24 Feb 2023

A network of interacting proteins created to aid drug discovery

Scientists at Open Targets, EMBL's European Bioinformatics Institute, and GSK are revealing the shared basis of diseases using a map of interacting human proteins.

24 Feb 2023

DNA sequencing may help predict a patient’s risk of kidney cancer recurrence

Studying the mutations in kidney cancer after surgery could help to better predict the risk of the disease coming back, according to the latest results of a decade-long international study.

23 Feb 2023

Present-day humans share stronger genetic ties with Neanderthals than previously thought

Like a merchant of old, balancing the weights of two different commodities on a scale, nature can keep different genetic traits in balance as a species evolves over millions of years.

21 Feb 2023

Whole genome sequencin provides clearest picture of the genetic changes leading to Hodgkin lymphoma

To create the most effective, personalized treatment plans for patients with Hodgkin lymphoma or other cancers, scientists and clinicians need the clearest picture of the genetic changes leading to the cancer's development.

21 Feb 2023

First induced bat iPSCs offer insights into the close relationship between bats and SARS-CoV-2 viruses

Researchers from the Icahn School of Medicine at Mount Sinai have generated the first induced pluripotent stem cells (iPSCs) from bats, gaining valuable insights into the close relationship between bats and viruses.

21 Feb 2023

Researchers report the circulation of a novel MERS-like coronavirus in Malayan pangolins

Researchers reported the circulation of a novel MERS-like coronavirus among Malayan pangolins, Manis javanica HKU4-associated CoV (MjHKU4r-CoV).

21 Feb 2023

Utilizing CRISPR to discover new therapy options for COPD

In this interview, we speak to Ceri Wiggins, a Director at AstraZeneca, about the many applications of CRISPR and its role in discovering new COPD therapies.

From Society for Laboratory Automation and Screening (SLAS) 20 Feb 2023

Genome editing prevents hypertrophic cardiomyopathy in mice

In a recent study published in the journal PLoS Digital Health, researchers pursued one-time cures for hypertrophic cardiomyopathy (HCM). They used a previously constructed murine model of HCM, designated as R403Q-129SvEv, to evaluate two different genetic therapies, as follows:

19 Feb 2023

Genomic News and Research

PARK2 duplication or microdeletion and neurological diseases

Largest genomic study focuses on the prognosis of metastatic pheochromocytomas

The rapid diagnosis of drug-resistant and drug-sensitive tuberculosis using mass spectrometry and machine learning

Rare Diseases Action Plan for England focuses on providing better care and reducing health inequalities

Tecan and Oxford Nanopore build alliance to create automated, seamless and fully compatible nanopore sequencing library preparation for any-length fragments of native DNA/RNA

Does a negative COVID-19 test before air travel reduce the spread of COVID-19 transmission during and after travel?

What is the effect of maternal circulating amino acids on offspring birthweight?

Study findings likely to guide the design of engineered TAPBPR variants with tailored HLA specificity

Research identifies proteins that may contribute to onset of common metabolic diseases

NHS COVID-19 contact tracing app worked well during the pandemic, research says

Roadmap outlines a framework for moving COVID-19 vaccines forward

Predicting the likelihood of kidney cancer recurrence by looking at DNA mutations

A network of interacting proteins created to aid drug discovery

DNA sequencing may help predict a patient’s risk of kidney cancer recurrence

Present-day humans share stronger genetic ties with Neanderthals than previously thought

Whole genome sequencin provides clearest picture of the genetic changes leading to Hodgkin lymphoma

First induced bat iPSCs offer insights into the close relationship between bats and SARS-CoV-2 viruses

Researchers report the circulation of a novel MERS-like coronavirus in Malayan pangolins

Utilizing CRISPR to discover new therapy options for COPD

Genome editing prevents hypertrophic cardiomyopathy in mice

Genetics & Genomics - Second Edition eBook

Bringing real-time analytics to downstream bioprocess monitoring

Designing fluidic architecture for scalable diagnostic platforms

Evaluating new approaches for rare disease genomics

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