Medical Xpress

MAY 16, 2023

Sometimes scientists arrive at new findings and discoveries by chance. They study gene variation and mutations that cause rare genetic diseases. A mutation is a permanent change in the genetic material. A mutation is a permanent change in the genetic material.

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Medical Xpress

MARCH 15, 2023

Scientists have developed a test that could greatly improve quality of life for infants with homocystinuria (HCU), a congenital disease that—if not treated early—causes serious complications. Research demonstrating the efficacy of this test was published today in Clinical Chemistry.

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Scienmag

SEPTEMBER 29, 2021

JUPITER, FL – The American Chemical Society announced that its prestigious 2022 Nobel Laureate Signature Award for Graduate Education in Chemistry honors a student from the Skaggs Graduate School of Chemical and Biological Sciences at Scripps Research and her faculty advisor, for their pioneering work developing RNA-targeting medications for genetic (..)

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XTalks

NOVEMBER 10, 2020

Expeditious and accurate diagnoses are necessary for patients to access healthcare services and treatment options for rare genetic diseases. Increasing the efficiency of case analysis and interpretation is essential to providing timely care for patients with genetic diseases.

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Scienmag

MAY 2, 2022

WINSTON-SALEM, NC – May 2, 2022 — Wake Forest Institute for Regenerative Medicine (WFIRM) scientists working on CRISPR/Cas9-mediated gene editing technology have developed a method to increase efficiency of editing while minimizing DNA deletion sizes, a key step toward developing gene editing therapies to treat genetic diseases.

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Scienmag

FEBRUARY 3, 2021

Scientists illuminate the protein’s role in rare genetic diseases often diagnosed during infancy or childhood Scientists at Scripps Research have clarified the workings of a mysterious protein called G?o, o, which is one of the most abundant proteins in the brain and, when mutated, causes severe movement disorders.

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XTalks

AUGUST 29, 2022

CRISPR is notable for engineering living cells, allowing scientists to edit, turn off, delete, or replace genes in a cell’s genome. This technology has powerful implications for therapeutic uses, such as replacing mutated or disease-causing genes or increasing the activity of cancer-fighting cells.

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XTalks

OCTOBER 1, 2020

Leaving academia for industry is a route that academic scientists and professors did not traditionally pursue in the past due to perceived differences in skillsets, experiences and even associated stigmas. WeiQi Lin, MD, PhD, executive vice president of research & development and principal scientist, DURECT Corporation.

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XTalks

SEPTEMBER 29, 2021

Some scientists and researchers have been visiting their workplaces during the pandemic. Scientists and researchers have already begun experiencing and living the hybrid model of work that many companies in all fields are now exploring.

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The Pharma Data

OCTOBER 18, 2020

Telomeres degrade and shorten with age and can become excessively damaged in certain genetic diseases, as well as from lifestyle factors such as smoking, poor diet, and chronic stress. Shortening of telomeres is associated with the symptoms of aging, heart disease, DNA damage and uncontrolled cell replication, which can lead to cancer.

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Delveinsight

FEBRUARY 11, 2021

The scientists analyzed samples from patients with the most common pancreatic cancer, pancreatic ductal adenocarcinoma (PDAC). The observations published in Science Immunology could inform the development of therapies that target IL-17 signaling for chronic inflammatory diseases as per the researchers.

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XTalks

AUGUST 7, 2024

In this episode, Ayesha spoke with Lawreen Asuncion, a patient advocate who works to raise awareness for the rare disease Usher syndrome. She began her career as a research scientist, working for more than eight years in this role before transitioning into product management and marketing.

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pharmaphorum

JANUARY 18, 2023

In 2016, scientists behind a study called the Resilience Project analysed genetic data from 589,000+ people and found 13 adults who carried genetic variants that should have resulted in serious – even deadly – childhood disease, but who were apparently healthy. Giving participants something in return.

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pharmaphorum

SEPTEMBER 9, 2020

Geneticist Dr Charles Steward has spent his career studying the human genome – but his work became much more personal when his children were diagnosed with severe neurological diseases. Charlie told pharmaphorum how his search for a genetic cause has led him to straddle the divide between scientist and patient advocate.

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pharmaphorum

SEPTEMBER 9, 2020

Geneticist Dr Charles Steward has spent his career studying the human genome – but his work became much more personal when his children were diagnosed with severe neurological diseases. Charlie told pharmaphorum how his search for a genetic cause has led him to straddle the divide between scientist and patient advocate.

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STAT News

FEBRUARY 22, 2023

The Cambridge biotech company announced Wednesday that it will partner with Life Edit Therapeutics to develop potentially permanent treatments for rare genetic diseases and other conditions. Life Edit is the North Carolina subsidiary of ElevateBio, a cell and gene therapy manufacturing firm in Waltham.

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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.

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Pharma Mirror

APRIL 21, 2024

This represents an increasingly promising field of precision medicine, holding significant prospects for preventing and treating numerous challenging or genetic diseases. Scientists have been striving to optimize mRNA stability, immunogenicity, translation efficiency, and delivery systems to achieve efficient and safe mRNA delivery.

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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 without editing the genetic sequence itself. These modifications regulate gene expression without altering the sequence or structure of DNA.

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XTalks

MARCH 3, 2021

The US Food and Drug Administration (FDA) has granted approval to Nulibry (fosdenopterin) for reducing the risk of death associated with molybdenum cofactor deficiency type A (MoCD Type A), making it the first treatment for the ultra-rare, genetic metabolic disorder. The approval was granted to BridgeBio Pharma, Inc.

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The Pharma Data

DECEMBER 20, 2020

Klisyri is a home-grown product discovered and characterized by Athenex scientists and developed from pre-IND to NDA by the Athenex team. CF is a rare, life-shortening genetic disease that affects the lungs, liver, GI tract, sinuses, sweat glands, pancreas and reproductive tract.

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The Pharma Data

OCTOBER 15, 2020

F4 Pharma — In order to help F4 Pharma advance its COVID-19 asset FX06 and to provide strategic guidance, F4 Pharma has appointed a scientific advisory board consisting of clinicians and scientists. Prior to joining Inozyme, Sabbagh served as the head of rare renal and musculoskeletal diseases research at Sanofi.

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pharmaphorum

JANUARY 27, 2023

million people in the UK that have a rare disease,” she continued, “and that’s where a lot of the innovation is, in more of these rare genetic diseases. As an overall term, ‘patient centricity’ itself has undergone a transformation, as well. “We We know that there are 3.5

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The Pharma Data

NOVEMBER 25, 2020

Ongoing research was put on the backburner and scientists began to focus on understanding the virus and assessing what medications could be used against it. The industry, along with scientists from various government agencies and academic institutions joined together in a united front against the global pandemic.

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