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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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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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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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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Worldwide Clinical Trials

JANUARY 24, 2024

Much of what we discuss I covered in my presentation, “Leveraging Genetics to Support Rare Disease Clinical Trials,” at last year’s World Orphan Drug Congress (WODC) EU. In my capstone, I focused on how, if, and when genetic counselors discuss clinical trials with their patients in the context of a counseling session.

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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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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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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

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

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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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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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

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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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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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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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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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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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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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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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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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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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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Drug Discovery World

MARCH 21, 2023

UK researchers, from the Wellcome Sanger Institute and collaborators, have used human stem cells and neurons to investigate what features influence how well CRISPR activation works for different sets of genes. The post New research begins to write the rules on CRISPR activation appeared first on Drug Discovery World (DDW).

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Scienmag

JANUARY 13, 2021

Study demonstrates the efficacy and therapeutic potential of select ionizable lipid nanoparticles for delivering mRNA to treat genetic diseases before birth Credit: Children’s Hospital of Philadelphia Philadelphia, January 13, 2021–Researchers at Children’s Hospital of Philadelphia and the School of Engineering and Applied Science (..)

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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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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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Scienmag

FEBRUARY 17, 2021

A leading cause of SCD in young athletes is arrhythmogenic cardiomyopathy (ACM), a genetic disease in which healthy heart muscle is replaced over time […]. Credit: Mark Bauer/FSU College of Medicine Nearly a half-million people a year die from sudden cardiac death (SCD) in the U.S.

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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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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 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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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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Drug Discovery World

DECEMBER 5, 2022

Scientists have unlocked key insights into virus evolution, revealing new information that could help develop treatments for a wide variety of genetic diseases. . The research focuses on a group of small, ubiquitous viruses called ‘parvoviruses’ (from the Latin word ‘ parvus’ meaning ‘small’, ‘puny’ or ‘unimportant’).

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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

APRIL 11, 2022

Hamilton, ON (April 11, 2022) – A study led by McMaster University researchers has found that regular cycling can greatly improve mobility in patients with myotonic dystrophy (MD), a genetic disease that causes muscle degeneration.

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