XTalks

DECEMBER 18, 2024

Vale, has conducted groundbreaking research uncovering the critical role of corticotropin-releasing factor and its receptor, CRF1, in the pathophysiology of congenital adrenal hyperplasia, said Kyle W. For the last three decades, Neurocrine Biosciences, together with our late founder, Wylie W.

Genetics 116

Genetics Hormones Trials Drugs 116

XTalks

MAY 17, 2023

The diseases include a type of retinal degeneration caused by mutations to the NPHP5 gene; a neurological disorder called Charcot-Marie-Tooth disease type 4J that damages the peripheral nerves; and multiple sulfatase deficiency that affects the breakdown of sugars and fats.

Gene Therapy 98

Gene Therapy Clinical Trials Clinical Trials Gene 98

pharmaphorum

OCTOBER 16, 2020

Findacure is a charity that works directly with rare disease patient groups to help them grow and professionalise. Over the last five years we have focused on the power of drug repurposing for rare genetic diseases. The post Rare diseases, repurposing and the role of AI appeared first on.

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Trials Clinical Trials Clinical Trials Life Science 105

XTalks

AUGUST 29, 2022

However, researchers are determined to overcome this hurdle. In a press release last week, it was announced that novel CRISPR research completed by a group at the Gladstone Institutes and UC San Francisco had been published in Nature Biotechnology.

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XTalks

FEBRUARY 25, 2025

CTX is a progressive multisystemic disorder that significantly impacts patients and previously lacked approved treatments, stated Dr. Janet Maynard, director of the Office of Rare Diseases, Pediatrics, Urologic and Reproductive Medicine at the FDAs Center for Drug Evaluation and Research in the FDA news release.

FDA Approval 59

FDA Approval Gene Therapy Gene Genetics 59

XTalks

AUGUST 19, 2020

New research suggests that social distancing has deceased pediatric respiratory tract infections in Finland. The research looked at two hospitals, Kuopio University Hospital and Mikkeli Central Hospital. CF is a progressive, genetic disease that causes persistent lung infection and could limit a person’s ability to breathe over time.

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Genetic Disease Genetics Life Science Research 111

XTalks

AUGUST 16, 2021

Immune systems can be weakened in individuals with HIV/AIDS; cancer and transplant patients taking certain immunosuppressive drugs; and those with genetic diseases affecting the immune system like congenital agammaglobulinemia and congenital IgA deficiency. According to the CDC, approximately 2.7

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Vaccination Vaccine Antibody Immune Response 104

XTalks

FEBRUARY 28, 2022

In the official Rare Disease Day 2022 video above, patients from all around the world are heard sharing their stories in their native languages about living with rare diseases like Duchenne muscular dystrophy, cystic fibrosis and Gaucher’s disease among others. Are Most Rare Diseases Genetic?

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Clinical Trials Clinical Trials Genetics Trials 98

Delveinsight

FEBRUARY 11, 2021

Verily is partnering with Johnson & Johnson’s Janssen division to witness the body’s earliest immune responses to a coronavirus infection, with people participating in the research from within their homes. . Moreover, those that did become ill showed relatively mild disease, from which they recovered quickly.

Gene Therapy 52

Gene Therapy Gene Immune Response In-Vivo 52

XTalks

AUGUST 6, 2020

TSC is a rare genetic disease that affects approximately 1 in 6,000 people. It also provides hope for these patients and their families and is yet another important milestone for Epidiolex as a first-in-class antiepileptic drug.”.

FDA Approval 64

FDA Approval Protein Containment Genetic Disease 64

XTalks

MAY 12, 2023

What’s been shown in mouse models of Rett syndrome which also have the genetic disease, is that trofinetide helps strengthen those connections between the neurons. So, although it’s not a genetic treatment for Rett syndrome, it does act on the core pathophysiology behind Rett syndrome, which is that synaptic loss.

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FDA Approval Genetics Trials Drugs 97

XTalks

SEPTEMBER 17, 2020

While the table lists acceptable surrogate endpoints for trials of more common conditions, such as asthma, type 2 diabetes and various cancer types, the document also provides key information to developers of certain rare disease therapies. Gene and cell therapies are the focus of research into treatments for PH1.

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Trials Gene Hormones Clinical Trials 98

XTalks

SEPTEMBER 24, 2024

With no cure currently available, managing symptoms and improving the quality of life for patients remain critical goals for medical research and treatment. This magazine immerses you in a world where industry leaders, patient advocates and top researchers converge to provide the most insightful perspectives on clinical trials.

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Clinical Trials Clinical Trials Trials Development 52

XTalks

NOVEMBER 10, 2023

In 2022, the FDA approved 20 orphan drugs out of the 37 novel drugs approved by the FDA’s Center for Drug Evaluation and Research (CDER).

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FDA Approval Gene Therapy Gene Clinical Trials 59

XTalks

OCTOBER 1, 2020

WeiQi Lin, MD, PhD, executive vice president of research & development and principal scientist, DURECT Corporation. Lin has made several transitions throughout her career, from being a clinician at an academic center, to academic research, to heading business development in industry. Motivations for Transition.

Scientist 52

Scientist In-Vitro Research Life Science 52

XTalks

DECEMBER 29, 2022

The life sciences and healthcare are among the biggest industries globally, and their significance was particularly highlighted during the past couple of years by the COVID-19 pandemic. Given the hyperfocus on the life sciences thanks to COVID, consumers appear to be more autonomous and vocal about their medical demands and choices.

Life Science 52

Life Science Gene Therapy Gene Manufacturing 52

XTalks

DECEMBER 22, 2021

If the past year is anything to go by, then 2022 will also be a year marked by continued innovations in the life sciences. The development and widespread adoption of new technologies is key to revolutionizing the way we diagnose, prevent, treat and manage disease. percent, according to a report by BCC Research.

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Life Science RNA Vaccine Vaccination 98

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. The research was published earlier this month in the journal Cell.

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DNA Gene Gene Silencing Genome 98

XTalks

APRIL 1, 2025

However, in 2018, the companies concluded the research and option phase of their partnership. Related: Novo Nordisks Alhemo Gets FDA Nod as First Daily Subcutaneous Injection for Hemophilia with Inhibitors Partnerships and the Hemophilia Market Sanofi was initially developing both Amvuttra and Qfitlia in partnership with Alnylam.

FDA Approval 59

FDA Approval RNA Clinical Trials Clinical Trials 59

Pharmaceutical Technology

MAY 8, 2023

ZFNs are also used to create a new generation of genetic disease models called isogenic human disease models. To further understand the key themes and technologies disrupting the pharmaceutical industry, access GlobalData’s latest thematic research report on Pharmaceutical.

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Genetics DNA Genetic Engineering Antibody 130

XTalks

FEBRUARY 24, 2025

Carlsbad, California-based Ionis Pharmaceuticals announced it will be sharing promising new trial data for its RNA-targeted prophylactic treatment donidalorsen for hereditary angioedema (HAE) at the 2025 American Academy of Allergy, Asthma & Immunology (AAAAI)/World Allergy Organization (WAO) Joint Congress in San Diego, California.

Trials 59

Trials RNA Allergies Drugs 59

XTalks

APRIL 24, 2023

Rare diseases can often be progressive, chronic and fatal. Approximately 72 percent of rare diseases are genetic, and around 70 percent of rare genetic diseases emerge in childhood. Sadly, one-third of children with rare diseases die before their first birthday.

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Gene Therapy Gene Trials Clinical Trials 95

XTalks

OCTOBER 7, 2020

A tiny child with a devastating genetic disease who wasn’t supposed to blow out the candles on his first birthday cake. Gene-altering and other advanced medicines are radically rewriting the future for people with some of the rarest, and most devastating, diseases on earth. “They called him ‘The Boy.’

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Development Gene Therapy Clinical Trials Clinical Trials 98

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. The research was published earlier this month in the journal Cell. pyogenes dCas9.

DNA 52

DNA Gene Gene Silencing Genome 52

XTalks

APRIL 15, 2021

A 2015 study published in Nature Genetics found that the availability of human genetic data made investigational drugs twice as likely to pass pivotal trials and eventually be approved. Through this type of analysis, researchers are unable to say whether a drug target is specific to patients with HFrEF or HFpEF.

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Development Drugs Genome Genomics 98

pharmaphorum

JANUARY 27, 2023

Developing medicines – for people living with disease Dr Mullen’s current role involves providing medical monitoring support, as well as safety, pharmacovigilance, scientific, and medical advice across a range of client projects, including advanced therapies and orphan drugs. I still feel that it is very important,” Dr Mullen said. “We’ve

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Clinical Trials Clinical Trials Trials Development 111

XTalks

MARCH 3, 2021

BridgeBio is dedicated to developing therapies for genetic diseases with unmet needs. Today’s action marks the first FDA approval for a therapy to treat this devastating disease,” said Hylton V. The approval was granted to BridgeBio Pharma, Inc. Nasdaq: BBIO ) and its affiliate Origin Biosciences, Inc.

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FDA Approval Genotype Clinical Trials Clinical Trials 64

XTalks

DECEMBER 13, 2023

In 2023, biotechnology and pharmaceutical companies leverage cutting-edge technology and significant investments in research and development (R&D) to continue pushing the boundaries of innovation in the healthcare sector, transcending the challenges posed by the pandemic.

Genetics 111

Genetics Vaccine Vaccination DNA 111

The Pharma Data

OCTOBER 15, 2020

Sabbagh will be responsible for expanding Inozyme’s proprietary pipeline by identifying and developing new therapeutics for monogenic and non-genetic diseases of abnormal mineralization. Prior to joining Inozyme, Sabbagh served as the head of rare renal and musculoskeletal diseases research at Sanofi.

In-Vivo 52

In-Vivo Business Development Manufacturing Development 52

XTalks

SEPTEMBER 13, 2021

With RNA therapies being the next hot thing in genetic medicine, Eli Lilly is joining the RNA editing race by partnering with Netherlands-based ProQR Therapeutics NV (Nasdaq: PRQR), a biotech company developing RNA-based therapies for rare genetic diseases with a focus on blinding disorders of the retina.

RNA 105

RNA Genetics Genetic Disease Medicine 105

XTalks

NOVEMBER 4, 2024

My journey to diagnosis was a difficult one that ended after a decade-long diagnostic process and countless hours of research, learning about FCS and finally presenting the idea to my doctor,” Julie explained.

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Genetics Doctor Doctors Gene 102

XTalks

NOVEMBER 29, 2024

The US Food and Drug Administration (FDA) has rejected the New Drug Application (NDA) for govorestat (AT-007), an investigational treatment for classic galactosemia, citing deficiencies in its clinical application. This decision, communicated through a Complete Response Letter, means the drug cannot currently proceed to market.

Drugs 98

Drugs Compliance Clinical Trials Clinical Trials 98

XTalks

FEBRUARY 13, 2025

Current treatments for HAE fall into two main categories: on-demand (acute) treatments to stop an attack and LTP therapies to prevent attacks.

Trials 82

Trials Genetics Allergies Drugs 82

XTalks

FEBRUARY 26, 2025

Regenerons CHORD study evaluating investigational gene therapy DB-OTO for otoferlin-related hearing loss a rare condition caused by variants in the OTOF gene has revealed that 10 of 11 children with at least one post-treatment hearing assessment experienced notable improvements, including dramatic gains in speech perception.

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Gene Therapy Gene Clinical Trials Clinical Trials 87

XTalks

JANUARY 6, 2025

Whether its the integration of nanotechnology in medicine, the evolution of point-of-care (POC) diagnostics or the transformative impact of CRISPR and regenerative medicine, these biotech trends are pushing scientific boundaries and creating new opportunities for businesses and researchers alike.

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