Scienmag

MAY 7, 2021

Credit: UPMC PITTSBURGH, May 7, 2021 – In a paper published today in Nature Communications, an international group of collaborators led by researchers at UPMC Children’s Hospital of Pittsburgh have identified a genetic cause of a rare neurological disorder marked by developmental delay and loss of coordination, or ataxia.

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Genetics Genetic Disease RNA Protein 95

Drug Discovery World

APRIL 17, 2024

DDW’s Diana Spencer speaks to Josh Mandel-Brehm , CEO of Massachusetts-based biotech CAMP4, to understand the role regulatory RNAs play in gene expression and how the founders overcame the challenge of launching a business based on brand new science. DS: You describe your therapeutics as RNA Amplifiers. How do they work?

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Gene Expression Gene Genetic Disease RNA 59

Drug Discovery World

JANUARY 11, 2024

Researchers have used messenger RNA (mRNA) to create an effective therapy for a rare liver disease in preclinical studies, demonstrating the technology’s potential therapeutic use in people. Patients affected by the disease are found to also experience an imbalance of glutathione regulation, which is important for liver detoxification.

Research 59

Research Gene Therapy RNA Gene 59

Drug Discovery World

NOVEMBER 7, 2022

WGS and Dante’s genomic reports will provide information about predisposition to genetic diseases, genetic carrier information and more. In April 2022, PacBio expanded a research collaboration with Children’s Mercy Kansas City in an effort to improve scientists’ understanding of the genetic underpinnings of rare diseases.

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Drug Discovery World

APRIL 30, 2024

Messenger RNA (mRNA) has come into focus within the drug discovery and development as an exciting tool to deliver genetic information. mRNA is a molecule made up of a single strand of ribonucleic acid (RNA). We believe it can now do the same for rare diseases.” “We

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XTalks

MAY 4, 2021

Researchers at the University of California San Francisco (UCSF) and the Whitehead Institute have developed a novel CRISPR-based tool called “CRISPRoff” that can switch off genes in human cells through epigenetic editing without altering the genetic sequence itself. It’s a great tool for controlling gene expression.”.

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Drug Discovery World

FEBRUARY 28, 2023

As we turn our focus to new potential applications and disease areas for the platform, scientists and companies must consider the potential life-saving impact on rare, inherited diseases, says Archana Gupta , PhD, staff scientist in genetic sciences at Thermo Fisher Scientific.

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