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.

Gene Therapy 95

Gene Therapy Gene Trials Clinical Trials 95

XTalks

AUGUST 6, 2020

Epidiolex is the only FDA-approved formulation that contains CBD derived from the cannabis plant. CBD is the most abundant non-psychoactive cannabinoid compound found in the cannabis plant, making up about 40 percent of the plant’s extract, which contains over 100 different cannabinoid compounds.

FDA Approval 64

FDA Approval Protein Containment Genetic Disease 64

XTalks

FEBRUARY 27, 2023

A lack of this enzyme results in a toxic build-up of mannose-containing sugars in the cells of the body, including the central nervous system (CNS). The disease usually clearly presents between birth and childhood, though it is often not recognized and patients can be undiagnosed and untreated for long periods.

FDA Approval 52

FDA Approval Life Science Containment Genetics 52

XTalks

MARCH 3, 2021

BridgeBio is dedicated to developing therapies for genetic diseases with unmet needs. Molybdopterins are a class of cofactors found in most molybdenum-containing and all tungsten-containing enzymes. The approval was granted to BridgeBio Pharma, Inc. Nasdaq: BBIO ) and its affiliate Origin Biosciences, Inc.

FDA Approval 64

FDA Approval Genotype Clinical Trials Clinical Trials 64

XTalks

NOVEMBER 10, 2023

Treatments for cTTP includes prophylactic plasma-based therapy for individuals with chronic disease to reduce the risk of clotting/bleeding by restoring the low amounts or absence of the ADAMTS13 enzyme. For prophylactic ERT, Adyznma is given to help reduce the risk of disease symptoms.

FDA Approval 59

FDA Approval Gene Therapy Gene Clinical Trials 59

The Pharma Data

DECEMBER 17, 2020

Lysogene is also collaborating with an academic partner to define the strategy of development for the treatment of Fragile X syndrome, a genetic disease related to autism. www.lysogene.com.

Gene Therapy 52

Gene Therapy Clinical Trials Clinical Trials Gene 52

The Pharma Data

DECEMBER 27, 2020

Lysogene is also collaborating with an academic partner to define the strategy of development for the treatment of Fragile X syndrome, a genetic disease related to autism. This press release may contain certain forward-looking statements, especially on the Company’s progress of its phase 2-3 clinical trial and cash runway.

Gene Therapy 52

Gene Therapy Clinical Trials Clinical Trials In-Vivo 52

The Pharma Data

OCTOBER 18, 2020

Telomeres degrade and shorten with age and can become excessively damaged in certain genetic diseases, 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.

DNA 52

DNA Scientist Genetic Disease Research 52

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.

Genome 98

Genome Genomics Medicine Genetic Disease 98

Delveinsight

AUGUST 17, 2021

Food and Drug Administration, which could have entered the ultra-rare genetic disease market. The rarity of disease – 1.36 Ipsen takes back its Application for New Drug Palovarotene that could be used to treat new bone formation in people with fibrodysplasia ossificans progressive. person/million around the globe.

FDA Approval 98

FDA Approval Medicine Vaccination Vaccine 98

pharmaphorum

SEPTEMBER 9, 2020

Charlie has spent more than 26 years working on the human genome – 22 of which were spent at the Wellcome Sanger Institute, helping to assemble the human genome and trying to understand the function of the genes contained within it. Everything the project does has to be rubber-stamped by the patients,” he says.

Genome 103

Genome Genomics Genetics Genome Project 103

The Pharma Data

NOVEMBER 11, 2020

We are initially focused on developing a novel therapy to treat the rare genetic diseases of ENPP1 and ABCC6 deficiencies. Inozyme expects to share data from this study in 2021. Upcoming Anticipated Milestones, Subject to COVID-19 Dynamics. H1 2021: Initiation of Phase 1/2 clinical trial.

Clinical Trials 40

Clinical Trials Clinical Trials Trials Development 40

The Pharma Data

NOVEMBER 2, 2020

BioMarin is a global biotechnology company that develops and commercializes innovative therapies for serious and life-threatening rare and ultra-rare genetic diseases. This press release contains forward-looking statements about the business prospects of BioMarin Pharmaceutical Inc. In the U.S., About BioMarin.

Drugs 40

Drugs Containment Trials Marketing 40

pharmaphorum

SEPTEMBER 9, 2020

Charlie has spent more than 26 years working on the human genome – 22 of which were spent at the Wellcome Sanger Institute, helping to assemble the human genome and trying to understand the function of the genes contained within it. Everything the project does has to be rubber-stamped by the patients,” he says.

Genome 80

Genome Genomics Genetics Genome Project 80

pharmaphorum

JANUARY 27, 2023

The ABPI report also contained recommendations regarding this. 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 genetic diseases. They’re] quite interesting,” Dr Mullen said. “I We know that there are 3.5

Clinical Trials 111

Clinical Trials Clinical Trials Trials Development 111

The Pharma Data

AUGUST 15, 2021

The WELIREG label contains a boxed warning that exposure to WELIREG during pregnancy can cause embryo-fetal harm. About Von Hippel-Lindau Disease. This is a rare genetic disease with an estimated incidence of 10,000 people in the U.S. As an inhibitor of HIF-2?, WELIREG reduces transcription and expression of HIF-2?

Hormones 52

Hormones Clinical Trials Clinical Trials Trials 52

XTalks

MAY 4, 2021

The researchers tweaked original prototypes of the tool, including those from work by researchers in Italy, to make the CRISPRoff-V1 programmable epigenome editor containing the KRAB domain of the zinc finger transcriptional repressor ZNF10 and (D3A) and two DNMT3 family members, DNMT3A and DNMT3L, fused to catalytically inactive S.

DNA 98

DNA Gene Gene Silencing Genome 98

The Pharma Data

AUGUST 3, 2021

SMA is a rare, genetic neuromuscular disease caused by a lack of a functional SMN1 gene, resulting in the irreversible loss of motor neurons, affecting muscle functions, including breathing, swallowing and basic movement. Source link: [link] /.

Clinical Trials 52

Clinical Trials Clinical Trials Gene Therapy Trials 52

XTalks

MAY 4, 2021

The researchers tweaked original prototypes of the tool, including those from work by researchers in Italy, to make the CRISPRoff-V1 programmable epigenome editor containing the KRAB domain of the zinc finger transcriptional repressor ZNF10 and (D3A) and two DNMT3 family members, DNMT3A and DNMT3L, fused to catalytically inactive S.

DNA 52

DNA Gene Gene Silencing Genome 52

XTalks

DECEMBER 13, 2023

7) Ultragenyx Pharmaceutical Compound annual growth rate: 90 percent Ultragenyx is a biopharmaceutical company dedicated to delivering innovative products to patients suffering from severe rare and ultra-rare genetic diseases.

Genetics 111

Genetics Vaccination Vaccine DNA 111

The Pharma Data

JULY 6, 2021

About SPK-8011 for haemophilia A Investigational SPK-8011, a novel bio-engineered adeno-associated viral (AAV) vector utilizing the AAV-LK03 capsid, also referred to as Spark200, contains a codon-optimized human factor VIII gene under the control of a liver-specific promoter. We currently have four programs in clinical trials.

Gene Therapy 52

Gene Therapy Gene Clinical Trials Clinical Trials 52

The Pharma Data

DECEMBER 3, 2020

Stoke Therapeutics (Nasdaq: STOK) is a clinical-stage biotechnology company pioneering a new way to treat the underlying causes of severe genetic diseases by precisely upregulating protein expression to restore target proteins to near normal levels. 4, 2020 14:57 UTC. BEDFORD, Mass.–(

Medicine 52

Medicine Genetics Clinical Trials Clinical Trials 52

The Pharma Data

OCTOBER 14, 2020

As a consequence, patients with premature stop codon diseases have reduced or eliminated protein production from the mutation bearing allele accounting for some of the most severe phenotypes in these genetic diseases. These premature stop codons have been identified in over 1,800 rare and ultra-rare diseases.

Protein 52

Protein RNA Production Genetics 52

The Pharma Data

JANUARY 25, 2021

BridgeBio is a team of experienced drug discoverers, developers and innovators working to create life-altering medicines that target well-characterized genetic diseases at their source. This press release contains forward-looking statements. About BridgeBio. Forward-Looking Statements.

Sales 52

Sales Marketing Development Containment 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. Instead, the team decided to target their search to the gene, promoter and enhancer regions, based on sequences from the GeneHancer database.

Development 98

Development Drugs Genome Genomics 98

The Pharma Data

OCTOBER 28, 2020

Ultragenyx is a biopharmaceutical company committed to bringing novel products to patients for the treatment of serious rare and ultra-rare genetic diseases. GeneTx licensed the rights to antisense technology intellectual property from the Texas A&M University System in December 2017. About Ultragenyx. Forward-Looking Statements.

Protein 40

Protein Production Development Drugs 40

The Pharma Data

JANUARY 9, 2021

BioMarin is a global biotechnology company that develops and commercializes innovative therapies for serious and life-threatening rare and ultra-rare genetic diseases. This press release contains forward-looking statements about the business prospects of BioMarin Pharmaceutical Inc., About BioMarin. Forward Looking Statements.

Gene Therapy 52

Gene Therapy Gene Trials Clinical Trials 52

The Pharma Data

SEPTEMBER 22, 2020

About Novartis Gene Therapies Novartis Gene Therapies (formerly AveXis) is reimagining medicine to transform the lives of people living with rare genetic diseases. Disclaimer This press release contains forward-looking statements within the meaning of the United States Private Securities Litigation Reform Act of 1995.

Clinical Development 52

Clinical Development Gene Therapy Development Gene 52

Pharmaceutical Technology

APRIL 4, 2023

Orphacol® is a pharmaceutical product containing cholic acid, a substance found in the bile, which is used to digest fats. Orphacol® is used to treat adults and children who suffer from Bile Acid Synthesis Disorders (BASD), a genetic abnormality that makes them unable to produce bile.

Medicine 130

Medicine Marketing Production Genetics 130