Medical Xpress

NOVEMBER 30, 2022

In any given cell at any given time, molecular processes are underway to seal cracks in the double helix or proofread the genetic code, all part of a perpetual upkeep program that maintains the body's status quo and staves off disease.

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Medical Xpress

MARCH 7, 2023

A simple vitamin could successfully treat a rare but potentially fatal genetic disease, according to research led by a Concordia undergraduate student.

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Medical Xpress

FEBRUARY 10, 2023

Genetic diseases kill more infants than anyone realizes.

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Scienmag

JULY 1, 2022

Curing debilitating genetic diseases is one of the great challenges of modern medicine. During the past decade, development of CRISPR technologies and advancements in genetics research brought new hope for patients and their families, although the safety of these new methods is still of significant concern.

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Scienmag

OCTOBER 27, 2020

In the world of rare genetic diseases, exome and genome sequencing are two powerful tools used to make a diagnosis. A recent addition to the toolkit, RNA sequencing, has been demonstrated to help researchers narrow down disease candidate variants identified first on exome and genome sequencing.

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Scienmag

APRIL 22, 2022

While cancer is a genetic disease, the genetic component is just one piece of the puzzle — and researchers need to consider environmental and metabolic factors as well, according to a research review by a leading expert at the University of Alberta.

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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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Medical Xpress

MARCH 6, 2023

The movement disorder ADCY5-related dyskinesia can be treated with the asthma drug theophylline. This has been shown in a recent study by Martin Luther University Halle-Wittenberg (MLU), University Medicine Halle and University of Leipzig Medical Center.

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BioTech 365

JULY 13, 2021

Biotechnology, Pharma and Biopharma News – Research – Science – Lifescience ://Biotech-Biopharma-Pharma: Penn team uses CRISPR to edit out genetic disease before and after birth in mice.Penn team uses CRISPR to edit out genetic disease before and after birth … Continue reading →

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Pharmaceutical Technology

JUNE 16, 2023

The Abu Dhabi Department of Health (DoH) in the UAE has made a declaration of collaboration with Mass General Brigham’s (MGB) International Center for Genetic Disease (iCGD) to advance life sciences.

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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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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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Medical Xpress

MAY 16, 2023

They study gene variation and mutations that cause rare genetic diseases. A mutation is a permanent change in the genetic material. That was the case when Thilini Gamage was to carry out one of the studies in her doctoral work with Professor Eirik Frengen at the Institute of Clinical Medicine, University of Oslo.

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BioPharma Reporter

JUNE 19, 2023

Abu Dhabi’s Department of Health has collaborated with Mass General Brigham's International Center for Genetic Disease (iCGD).

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Pharmaceutical Technology

APRIL 26, 2023

MiNA Therapeutics has entered into a research collaboration and option licensing agreement with BioMarin Pharmaceutical to speed up the development of therapeutic ribonucleic acid activation (RNAa) candidates to treat rare genetic diseases. The option licensing agreement is based on early-stage clinical results.

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Medical Xpress

MARCH 27, 2023

Food and Drug Administration (FDA) applications for Orphan Drug Designation (ODD) and Rare Pediatric Disease Designation (RPDD), a new article can help developers of gene therapies for rare genetic diseases. The article is published in the journal Human Gene Therapy.

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Pharmaceutical Technology

OCTOBER 25, 2022

There are options in the future to possibly apply the worldwide research and development (R&D), manufacturing and marketing expertise of Astellas in gene therapy to AAV gene therapy development programmes of Taysha for genetic ailments of the central nervous system (CNS).

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STAT News

APRIL 19, 2023

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. “I was asked to take a medical retirement,” Cheung told STAT. “I felt that I was being judged for having a disability.”

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Scienmag

MAY 12, 2021

This genetic disease leads to the formation of benign tumours which can massively impair the proper functioning of vital organs […].

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Scienmag

DECEMBER 30, 2021

The assembly process is tightly controlled, and any failure can result in genetic diseases, including some […]. These proteins are assembled and matured, forming a kind of consortium of proteins that perform these gene reading functions.

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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. However, the researchers expect that translation to humans will allow for longer gaps between treatments.

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STAT News

MARCH 3, 2023

But the last time an event like this took place, in November 2018, carefully planned discussions about how it might be responsibly harnessed to treat genetic diseases were derailed by news that a team of researchers in China claimed to have already crossed a bright-red scientific rubicon — they’d used it to create the world’s first (..)

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BioSpace

JUNE 16, 2022

In a study conducted by researchers at Stanford University, three pediatric patients with a rare genetic disease that often results in kidney failure received kidney transplants.

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Drug Discovery World

DECEMBER 15, 2022

The KCNC1 Foundation was created by the parents of a child diagnosed with KCNC1-related DEE to support research aimed at accelerating the development of a cure, as well as to raise awareness to identify and connect patients and provide support for families. . “We mutant channels. .

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Pharmaceutical Technology

APRIL 6, 2023

RespireRx Pharmaceuticals has signed a material transfer agreement with University College London (UCL) to conduct a joint study to research the potential of AMPAkine to treat GRIA disorder. GRIA disorder is a family of rare genetic diseases.

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Scienmag

SEPTEMBER 13, 2021

Philadelphia, September 13, 2021—Researchers at Children’s Hospital of Philadelphia (CHOP) have demonstrated that an experimental device can improve blood sugar control in patients who developed diabetes after their pancreas was removed to treat their hyperinsulinism, a genetic disease in which the pancreas produces too much insulin.

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STAT News

DECEMBER 12, 2022

LONDON — England is launching a pilot program sequencing the genomes of up to 100,000 newborns to see if such a strategy can speed up the detection of genetic illnesses. The Newborn Genomes Programme will scan DNA for mutations that can cause some 200 conditions.

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Medical Xpress

NOVEMBER 15, 2022

Angelman syndrome is a genetic disease that causes a developmental delay, alterations in speech and balance, intellectual disability and sometimes, seizures. To date, researchers had identified mutations in the HERC2 gene, which encodes a ubiquitin ligase enzyme that plays a key role in the nervous system.

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Drug Discovery World

APRIL 17, 2024

DS: CAMP4 leverages research from co-founder Richard Young on how regulatory RNA (regRNA) molecules control the expression of genes. Recently, research published by Dr Richard (Rick) Young (Whitehead Institute) describes the key mechanism of how these regRNAs regulate gene expression. What diseases are you currently targeting?

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Scienmag

NOVEMBER 5, 2021

An international team led by Soeren Lienkamp, professor at the Institute of Anatomy at UZH, has now exploited this similarity by using a tiny tropical frog called Xenopus tropicalis to model human genetic diseases. The researchers focused on polycystic kidney disease, a congenital […].

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Pharmaceutical Technology

JUNE 8, 2023

Hopewell Therapeutics president and CEO Louis Brenner stated: “Hopewell Therapeutics seeks to redefine the non-viral delivery space for novel genomic medicines by designing systemically administered LNPs to specifically target extrahepatic tissues and cells throughout the body.

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STAT News

NOVEMBER 9, 2022

To protect this child from the same genetic disease that killed two older siblings, treating her as soon as she was born might only work so well, the doctors knew. So they dialed back the therapeutic clock, delivering the medication to her as a fetus. Now 16 months old, Ayla appears totally healthy.

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Scienmag

SEPTEMBER 18, 2020

Batten’s disease: research to understand and cure rare genetic diseases Québec City and Montréal, September 18, 2020 – Institut de la recherche scientifique (INRS) announces that Stéphane Lefrançois, a professor at its Centre Armand-Frappier Santé Biotechnologie (AFSB), has received a grant of more than $670,000 from the Canadian Institutes (..)

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Scienmag

DECEMBER 17, 2020

Researchers at the University of Illinois Chicago have published a study showing a promising approach to using drug repurposing to treat genetic diseases. A team from the […].

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Scienmag

APRIL 6, 2021

Researchers developed a new animal model to study a rare genetic disease that can lead to blindness at the age of 40-50.

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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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Drug Discovery World

MARCH 24, 2023

Israeli researchers have developed a drug that is effective in treating a rare genetic muscle disease. The team demonstrated that the disease is caused by a mutation in the gene encoding HMG CoA reductase, inhibiting the enzyme’s activity.

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