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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.
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.
Scientists may have solved the question of why Ashkenazi Jews are significantly more susceptible to a rare genetic disorder known as Gaucher disease—and the answer may help settle the debate about whether they are less susceptible to tuberculosis (TB).
But after Cheung herself developed a genetic condition so rare it doesn’t have an official name, causing her to start losing her vision, HHMI decided to stop funding her.
Credit: Gretel Nicholson, EXRC Scientists have discovered a new geneticdisease, which causes some children’s brains to develop abnormally, resulting in delayed intellectual development and often early onset cataracts.
This represents an increasingly promising field of precision medicine, holding significant prospects for preventing and treating numerous challenging or geneticdiseases. Scientists have been striving to optimize mRNA stability, immunogenicity, translation efficiency, and delivery systems to achieve efficient and safe mRNA delivery.
Tessera Therapeutics chief scientist Michael Holmes had just finished presenting a much-anticipated peek at a technology the company had previously said could “ revolutionize genetic medicine ” and “cure nearly any geneticdisease.”
Next week, hundreds of scientists from around the world will convene in London for an international summit on genome editing. That technology, which enables scientists to easily excise, alter, or replace specific sections of DNA, was awarded the 2020 Nobel Prize for Chemistry. Continue to STAT+ to read the full story…
Sometimes scientists arrive at new findings and discoveries by chance. They study gene variation and mutations that cause rare geneticdiseases. A mutation is a permanent change in the genetic material. A mutation is a permanent change in the genetic material.
The Cambridge biotech company announced Wednesday that it will partner with Life Edit Therapeutics to develop potentially permanent treatments for rare geneticdiseases and other conditions. Life Edit is the North Carolina subsidiary of ElevateBio, a cell and gene therapy manufacturing firm in Waltham.
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.
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 (..)
Expeditious and accurate diagnoses are necessary for patients to access healthcare services and treatment options for rare geneticdiseases. Increasing the efficiency of case analysis and interpretation is essential to providing timely care for patients with geneticdiseases.
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 geneticdiseases.
Scientists illuminate the protein’s role in rare geneticdiseases 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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
Written By: Derek Ansel, MS, CCRA, Executive Director, Therapeutic Strategy Lead, Rare Disease Given that 80% of rare diseases have a genetic etiology, genetic implications should be addressed at the onset of a clinical program to support trial enrollment.
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.
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 geneticdisease that affects the lungs, liver, GI tract, sinuses, sweat glands, pancreas and reproductive tract.
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 geneticdiseases. As an overall term, ‘patient centricity’ itself has undergone a transformation, as well. “We We know that there are 3.5
Telomeres degrade and shorten with age and can become excessively damaged in certain geneticdiseases, 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.
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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