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

pharmaphorum

SEPTEMBER 9, 2020

Geneticist Dr Charles Steward has spent his career studying the human genome – but his work became much more personal when his children were diagnosed with severe neurological diseases. Charlie told pharmaphorum how his search for a genetic cause has led him to straddle the divide between scientist and patient advocate.

Genome 80

Genome Genomics Genetics Genome Project 80

XTalks

MARCH 3, 2021

The US Food and Drug Administration (FDA) has granted approval to Nulibry (fosdenopterin) for reducing the risk of death associated with molybdenum cofactor deficiency type A (MoCD Type A), making it the first treatment for the ultra-rare, genetic metabolic disorder. The approval was granted to BridgeBio Pharma, Inc.

FDA Approval 64

FDA Approval Genotype Clinical Trials Clinical Trials 64

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

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. Figure 1: The use of Mendelian randomization to validate genetic drug targets.

Development 98

Development Drugs Genome Genomics 98

Roots Analysis

FEBRUARY 26, 2024

Whether it was a common cold or a genetic disease, prayers and sacrifices to the gods were the only hope of a remedy at such times. It is possible that the legend of Big Foot may be based on an unfortunate person suffering from elephantiasis or gigantism or some other genetic predisposition that would have rendered him abnormal.

Medicine 52

Medicine Genetics Genetic Engineering Genetic Disease 52

The Pharma Data

DECEMBER 3, 2020

Dravet syndrome is a severe and progressive genetic epilepsy characterized by frequent, prolonged and refractory seizures that usually begin within the first year of life. The disease is classified as a developmental and epileptic encephalopathy due to the developmental delays and cognitive impairment associated with the disease.

Medicine 52

Medicine Genetics Clinical Trials Clinical Trials 52

The Pharma Data

SEPTEMBER 22, 2020

All patients deserve a gene therapy designed to address the genetic root cause of their disease with a single dose. About Spinal Muscular Atrophy SMA is the leading genetic cause of infant death. Zolgensma is approved in the US, Japan and, most recently, Brazil, for patients with SMA under the age of two.

Clinical Development 52

Clinical Development Gene Therapy Development Gene 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

XTalks

FEBRUARY 27, 2023

Alpha-mannosidosis is an extremely rare genetic metabolic disease affecting approximately one in 500,000 people. 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).

FDA Approval 52

FDA Approval Life Science Containment Genetics 52

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. These modifications regulate gene expression without altering the sequence or structure of DNA.

DNA 52

DNA Gene Gene Silencing Genome 52

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

The Pharma Data

DECEMBER 17, 2020

About Lysogene Lysogene is a gene therapy Company focused on the treatment of orphan diseases of the central nervous system (CNS). The Company has built a unique capability to enable a safe and effective delivery of gene therapies to the CNS to treat lysosomal diseases and other genetic disorders of the CNS.

Gene Therapy 40

Gene Therapy Clinical Trials Clinical Trials Gene 40

The Pharma Data

AUGUST 3, 2021

The use of a sham procedure in STEER is included to provide a comparison group for an unbiased collection and assessment of efficacy, safety and tolerability of OAV-101 IT for this older population where the disease progression is slower. Spinal Muscular Atrophy (SMA) ? Source link: [link] /.

Clinical Trials 52

Clinical Trials Clinical Trials Gene Therapy Gene 52

The Pharma Data

DECEMBER 27, 2020

Lysogene is a gene therapy Company focused on the treatment of orphan diseases of the central nervous system (CNS). The Company has built a unique capability to enable a safe and effective delivery of gene therapies to the CNS to treat lysosomal diseases and other genetic disorders of the CNS. www.lysogene.com.

Gene Therapy 40

Gene Therapy Clinical Trials Clinical Trials In-Vivo 40

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

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

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

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

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. Forward-Looking Statements.

Sales 52

Sales Marketing Development Containment 52

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

The Pharma Data

JANUARY 9, 2021

Hemophilia A, also called Factor VIII deficiency or classic hemophilia, is an X-linked genetic disorder caused by missing or defective Factor VIII, a clotting protein. BioMarin is a global biotechnology company that develops and commercializes innovative therapies for serious and life-threatening rare and ultra-rare genetic diseases.

Gene Therapy 52

Gene Therapy Gene Trials Clinical Trials 52

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

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

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