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. Lawreen is a seasoned biotech and life science professional with over 25 years of experience. Subscribe to the Xtalks Life Science Podcast to never miss a new episode.

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STAT News

SEPTEMBER 12, 2022

In the life sciences industry, where company names derived from “biology” or “genetics” are a dime a dozen, it helps to have a brand that stands out. The company is developing treatments for diseases caused by broken mitochondria — the main energy source for human cells.

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BioPharma Reporter

OCTOBER 17, 2024

Wave Life Sciences reports that it has successfully carried out RNA editing in two patients with alpha-1 antitrypsin deficiency, the first time this kind of clinical RNA editing has been completed in humans according to the company.

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XTalks

JANUARY 27, 2023

The website brings awareness for facial angiofibroma, an aspect of the rare genetic disease tuberous sclerosis complex (TSC). Nobelpharma America, a pharmaceutical and medical device company headquartered in Bethesda, Maryland, has launched an educational website called Face Forward.

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Scienmag

JUNE 7, 2021

Credit: Autobahn Labs Cold Spring Harbor Laboratory (CSHL) is collaborating with Autobahn Labs, a new life sciences incubator, to catalyze the Laboratory’s early-stage discovery programs into spin-out companies that commercialize transformational new therapies. Autobahn will provide […].

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Pharmaceutical Technology

JANUARY 12, 2023

Solid Biosciences president and CEO Bo Cumbo said: “This collaboration with Phlox Therapeutics is an exciting opportunity to work with a company that shares our commitment and innovative approach to bringing transformative therapies to patients with rare genetic diseases.

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XTalks

DECEMBER 18, 2024

Neurocrine Biosciences Crenessity (crinecerfont) has been given the green light by the US Food and Drug Administration (FDA) as a new treatment for congenital adrenal hyperplasia (CAH). The approval marks a significant step in addressing a condition that has historically relied on decades-old therapies.

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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. HS: Absolutely.

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XTalks

MAY 17, 2023

Related: Gene Therapy Clinical Trials for Rare Diseases: 5 Key Takeaways from FDA’s Recent Town Hall “The BGTC offers promise for rare disease patients around the world,” said Julie Gerberding, MD, CEO of the FNIH, in the press release from the agency.

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XTalks

APRIL 15, 2025

The approval marks the first FDA-approved therapy specifically targeting hyperphagia in this rare genetic disorder. Soleno Therapeutics has announced the FDA approval of Vykat XR (diazoxide choline extended-release tablets) for the treatment of hyperphagia an intense, persistent hunger in patients with Prader-Willi syndrome (PWS).

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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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XTalks

MAY 26, 2023

The regulatory nod “ushers in a whole new paradigm to treat genetic diseases” and is a major milestone for DEB patients and their families, Krystal Biotech CEO Krish Krishnan said in a statement from the company.

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XTalks

FEBRUARY 25, 2025

CTX is a rare, progressive genetic disorder caused by mutations in the CYP27A1 gene, which disrupts the livers ability to produce chenodeoxycholic acid, a bile acid.

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XTalks

AUGUST 19, 2020

Cystic fibrosis (CF) patients must keep a six feet distance from others at all times to keep germs away that could exacerbate their disease. 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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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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XTalks

AUGUST 29, 2022

The team’s approach to cellular engineering with non-viral CRISPR technology could be used to replace the genes IL2RA and CTLA4 entirely, which are associated with rare genetic diseases. Scientists have previously shown that they could replace small sections of the IL2RA gene where mutations occur in patients.

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XTalks

FEBRUARY 28, 2022

In the US, 25 to 30 million Americans, or one in ten, are living with a rare disease. Are Most Rare Diseases Genetic? While 72 percent of rare diseases are genetic, not all are. Rare genetic diseases can be caused by either somatic or germline genetic changes.

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XTalks

SEPTEMBER 27, 2024

In a news release published yesterday, Pfizer announced it will voluntarily withdraw its sickle cell disease (SCD) therapy Oxbryta (voxelotor) from all markets worldwide. The company said it is also discontinuing all active clinical trials for voxelotor and expanded access programs around the world.

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XTalks

OCTOBER 16, 2024

Pfizer’s Hympavzi (marstacimab-hncq) has received approval from the US Food and Drug Administration (FDA) for treating hemophilia A or B in adults and adolescents aged 12 and older with factor VIII deficiency (hemophilia A) or factor IX deficiency (hemophilia B), who do not have inhibitors to these factors.

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The Pharma Data

DECEMBER 8, 2020

December is bringing frost in the North and plenty of cold hard cash for these life sciences companies. . European venture capital firm Forbion rounded up $545 million for its fifth life sciences fund. The impact of CNS diseases extends beyond patients—to their families and society as well.”

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pharmaphorum

DECEMBER 8, 2021

If approved, the drug will be sold by Neuren Pharma, which licensed North American rights to the drug in 2018 and is also developing another drug for Rett blarcamesine, in collaboration with Anavex Life Sciences. Results from a phase 3 trial of blarcamesine are due next year.

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XTalks

NOVEMBER 27, 2023

Amicus Therapeutics has recently received approval from the US Food and Drug Administration (FDA) for its drugs Pombiliti (cipaglucosidase alfa-atga) and Opfolda (miglustat) for adults living with late-onset Pompe disease (LOPD) who are not improving on their current enzyme replacement therapy (ERT).

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XTalks

FEBRUARY 27, 2023

Related: Interview with the Leaders at Amylyx, Maker of New FDA Approved ALS Drug Relyvrio – Xtalks Life Science Podcast Ep. They also cannot be pregnant at the onset of treatment, as Lamzede can harm the embryo or fetus.

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Delveinsight

FEBRUARY 11, 2021

Verily, Google’s life-science-focused sibling company and Janssen will also seek to tap into the data generated by people during their everyday lives to seek for any previous health-related signals in the two years leading up to the point they consented to participate in the study as well as in the two years after.

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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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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.”.

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XTalks

SEPTEMBER 22, 2022

GPP occurs in individuals with specific gene variations as it is a genetic disease , and variations in the genes IL36RN and AP1S3 are known to cause it. The novel, selective monoclonal antibody spesolimab behind Spevigo reduces flares in individuals by inhibiting interleukin-36 (IL-36) signalling.

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XTalks

SEPTEMBER 17, 2020

Patients with this disease have a very high level of LDL-C, which increases their risk of coronary artery disease, including heart attack, stroke and atherosclerosis.

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XTalks

JANUARY 3, 2025

For the first time in the US, adults living with familial chylomicronemia syndrome (FCS) have an FDA-approved treatment option.

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XTalks

NOVEMBER 10, 2023

cTTP is a very rare, inherited and life-threatening blood clotting disorder caused by a disease-causing mutation in the ADAMTS13 (A disintegrin and metalloproteinase with thrombospondin motifs 13) gene, which encodes the ADAMTS13 enzyme that regulates blood clotting by cleaving the von Willebrand factor (VWF) protease.

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XTalks

OCTOBER 8, 2024

SMA is a genetic neuromuscular disease causing progressive muscle weakness and loss of motor function. Scholar Rock announced positive results from the Phase III SAPPHIRE trial evaluating apitegromab, an investigational muscle-targeted therapy, in patients with spinal muscular atrophy (SMA).

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XTalks

SEPTEMBER 25, 2024

In a significant regulatory milestone, the US Food and Drug Administration (FDA) approved Aqneursa (levacetylleucine) for treating neurological symptoms associated with Niemann-Pick disease type C (NPC). NPC, caused by mutations in the NPC1 or NPC2 gene, typically shortens life expectancy to around 13 years.

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XTalks

SEPTEMBER 24, 2024

CDKL5 deficiency disorder (CDD) is a rare genetic condition caused by mutations in the CDKL5 gene, which is essential for brain development and function. This disorder leads to severe neurodevelopmental impairment and early-onset, difficult-to-control seizures.

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XTalks

SEPTEMBER 16, 2024

The US Food and Drug Administration (FDA) has accepted KalVista Pharmaceuticals’ New Drug Application (NDA) for sebetralstat, a novel, investigational oral plasma kallikrein inhibitor for the on-demand treatment of hereditary angioedema (HAE) attacks in adult and pediatric patients aged 12 years and older.

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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.

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XTalks

NOVEMBER 26, 2024

BridgeBio has been highly active in the genetic diseases space. Its investigational therapy infigratinib recently received Breakthrough Therapy designation, becoming the first-ever potential treatment for achondroplasia — a genetic condition affecting bone growth — to achieve this milestone.

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XTalks

OCTOBER 1, 2020

Sooter has also found success in industry, leading and bringing together the work of different teams of researchers at NeuBase to help drive the company’s goal of developing cures and treatments for genetic diseases, including Huntington’s Disease. Funding in the Life Science Industry vs. Academia.

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