pharmaphorum

AUGUST 1, 2022

Sarepta is pressing forward with a bold plan to file with the FDA for accelerated approval of its gene therapy SRP-9001 for Duchenne muscular dystrophy (DMD) in the next few months, with a view to making it available in sometime around the middle of 2023. The post Sarepta says early filing for DMD gene therapy is back on appeared first on.

Gene Therapy 105

Gene Therapy Gene Genetics Trials 105

pharmaphorum

DECEMBER 2, 2021

Whether catching up with relatives, attending a business meeting, or even visiting a doctor, it became commonplace to conduct this type of activity via a screen. Using patients’ genetic data. One of the largest companies in the genetic testing space, 23andMe, is also extremely active in healthcare. Tapping into data.

Genetics 145

Genetics Doctors Doctor Pharmacy 145

XTalks

JUNE 8, 2021

Novartis’ Zolgensma (onasemnogene abeparvovec) gene therapy has been making significant strides as of late, including dosing of the first Spinal Muscular Atrophy (SMA) patient with the treatment in the UK last week. SMA is caused by mutations in the survival motor neuron 1 ( SMN1) gene, which along with the SMN2 gene, encode the SMN protein.

Gene Therapy 110

Gene Therapy Gene Protein Trials 110

FDA Law Blog

DECEMBER 7, 2022

Valentine — On November 22, 2022, FDA approved CSL Behring’s BLA for Hemgenix (etranacogene dezaparvovec), an AAV-based gene therapy for the treatment of adults with Hemophilia B who currently use Factor IX prophylaxis therapy, have current or historical life-threatening hemorrhage, or have repeated, serious spontaneous bleeding episodes.

Gene Therapy 119

Gene Therapy Gene FDA Approval Production 119

Medical Xpress

DECEMBER 2, 2022

Changes in a single gene open the door for harmful gut bacteria to set off the inflammation that drives Crohn's disease, according to a new study led by Weill Cornell Medicine and NewYork-Presbyterian investigators. These findings could one day help doctors better select targeted treatments for patients with this immune disorder.

Bacteria 75

Bacteria Genetics Doctors Doctor 75

XTalks

JUNE 30, 2023

It’s been a big week for cell and gene therapy approvals in the US, including a much-awaited approval for one to treat hemophilia A, the most common form of hemophilia. Hemophilia A is a rare genetic bleeding disorder that is caused by a mutation in the gene that encodes the key blood clotting protein factor VIII (FVIII).

Gene Therapy 98

Gene Therapy Gene FDA Approval Antibody 98

FDA Law Blog

MARCH 13, 2023

This meeting will host a panel of rare disease patients, caregivers, and advocates to have a focused discussion on the emerging field of gene therapy (regulated at the FDA by OTP). At least some (if not all) of the panelists will have had experience participating in gene therapy trials. One family’s daughter was the first U.S.

Gene Therapy 98

Gene Therapy Gene Trials Clinical Trials 98

pharmaphorum

NOVEMBER 3, 2020

Ring Chromosome 20 Syndrome, or (R)20, is an ultra-rare form of epilepsy with a devastating impact – yet despite huge leaps forward in gene sequencing in recent years, diagnoses are going down instead of up. There are no clinical practice guidelines, meaning doctors treat on a case-by-case basis. Raising awareness, offering support.

Gene Sequencing 118

Gene Sequencing Gene Genome Genomics 118

XTalks

JANUARY 21, 2025

A doctor inserts the catheter through a small incision in a vein in the groin and guides it to the heart. The catheters tip is positioned at various locations within the heart, where the doctor uses a generator to deliver RF energy. Companion diagnostic for Pfizers hemophilia B gene therapy Beqvez (idanacogene elaparvovec-dzkt).

FDA Approval 105

FDA Approval Manufacturing Development RNA 105

Scienmag

JANUARY 26, 2021

Credit: Photo credit: Charlie Ehlert/University of Utah Health In 2012, four-year-old Bertrand Might became the first-ever patient diagnosed with a rare genetic disorder called N-glycanase (NGLY1) deficiency. The discovery of this condition and Bertrand’s diagnosis allowed doctors to look for other children with the same genetic defect.

Genetics 52

Genetics Doctors Doctor Gene 52

Scienmag

JUNE 29, 2021

Scientists and doctors at University College London Great Ormond Street Institute of Child Health (UCL GOS ICH) and Great Ormond Street Hospital (GOSH) have given hope of a gene therapy cure to children with a rare degenerative brain disorder called Dopamine Transporter Deficiency Syndrome (DTDS).

Gene Therapy 58

Gene Therapy Gene Doctors Doctor 58

STAT News

APRIL 3, 2023

They had been modified in a lab by adding a functional gene to compensate for a defective one. Conner’s doctors expect that this groundbreaking gene therapy, which costs a staggering $3 million a patient, will stave off a fatal degenerative brain disease and save his life.

Gene Therapy 98

Gene Therapy Nurses Gene Doctor 98

pharmaphorum

SEPTEMBER 21, 2021

In other cases, rare CNS conditions may be passed on from one generation to the next without knowledge or understanding that the reason for suffering or death among previous generations was genetic in basis and therefore identifiable, and perhaps even treatable. Doctors are often unfamiliar with these conditions. About the author.

Gene Therapy 90

Gene Therapy Gene Clinical Trials Clinical Trials 90

pharmaphorum

SEPTEMBER 12, 2022

Across LabCorp , we innovate through science and technology, with access to approximately 2,500 [doctors] and PhDs and over 700 patients. Everyone’s genetic makeup differs, and each person’s cancer experience is unique to them – how cancer develops, how fast it spreads, which drugs it responds to, and more. Tailored oncology.

Genomics 105

Genomics Genome Clinical Trials Clinical Trials 105

World of DTC Marketing

JANUARY 31, 2021

Ex vivo (where cells are genetically modified outside the body) cell and gene therapies have generated considerable excitement on their potential to cure previously incurable diseases. The other key point is that Ms Porter misses entirely is that healthcare cots are being driven by a public that is obese and doesn’t exercise.

In-Vivo 187

In-Vivo Generic Drugs Drugs Gene Therapy 187

Trialfacts

MAY 27, 2024

This study will use brain imaging, genetics, questionnaires, and other assessments to map the brain systems and genes that underlie risk and resilience for mental health problems. Click Here to Check Your Eligibility for this Study The post Get Involved in Understanding Your Brain and Genes appeared first on Trialfacts.

Gene 52

Gene Hormones Research Doctors 52

XTalks

NOVEMBER 18, 2021

“The first time I heard the term hypertrophic cardiomyopathy, I was in the doctor’s office in the room getting diagnosed. HCM is a genetic heart condition in which the muscle of the heart thickens, causing it to work harder to pump blood. Through genetic testing, it was revealed that Juanea carries the gene for the heart condition.

Doctors 98

Doctors Doctor Genetics Gene 98

Trialfacts

MAY 27, 2024

Study Location Research Centre: Monash Biomedical Imaging Location: 770 Blackburn Road, Clayton 3168 Lead Doctor: Professor Alex Fornito Ethics Committee: This study has been reviewed and approved by the Monash University Human Research Ethics Committee (Project #12692) Background Attention, young men!

Gene 52

Gene Hormones Research Doctor 52

pharmaphorum

SEPTEMBER 9, 2020

Charlie told pharmaphorum how his search for a genetic cause has led him to straddle the divide between scientist and patient advocate. He is currently the patient advocacy and engagement lead at Congenica, a digital health company that is investigating the genetic basis of rare diseases. For some people, a job is more than just a job.

Genome 102

Genome Genomics Genetics Genome Project 102

XTalks

SEPTEMBER 22, 2020

“Helping people understand and manage their heart health has always been a priority for Fitbit, and our new ECG app is designed for those users who want to assess themselves in the moment and review the reading later with their doctor,” Eric Friedman, Fitbit co-founder and CTO said in a statement.

Gene 107

Gene Doctors Doctor Clinical Trials 107

pharmaphorum

FEBRUARY 16, 2022

She received a cord blood transplant to treat the AML, receiving stem cells carrying a genetic mutation (CCR?5/?32) Having a third functional cure of HIV nevertheless does give pointers to how a more widely applicable cure might be developed in the future, for example using gene-editing drugs to introduce CCR5?32

Gene Editing 69

Gene Editing Research Gene Genetics 69

pharmaphorum

MAY 6, 2021

Thalassaemia is a severe genetic disease that is characterised by significantly reduced production of functional beta-globin, a component of haemoglobin, the oxygen-carrying protein in the blood. Severely-affected patients need regular blood transfusions to maintain their haemoglobin levels.

Genetic Disease 104

Genetic Disease Protein RNA Doctors 104

The Pharma Data

DECEMBER 28, 2020

The Corps is a group of doctors, public health professionals and community advocates working to reverse the COVID-19 outbreak and protect our city. About Fulgent Genetics. TEMPLE CITY, Calif., It ensures that anyone with the virus receives care and can safely isolate to prevent the spread. For more information, visit [link].

Genetics 52

Genetics Sales Gene Sequencing Marketing 52

The Pharma Data

JANUARY 21, 2021

Studies Pinpoint Genes That Raise Risk for Breast Cancer. New research into exactly which genetic mutations increase breast cancer risk in women without a family history of the disease may help guide decisions about screening and preventive surgery, doctors say. She was not involved in the new studies.

Gene 52

Gene Vaccine Vaccination Genetics 52

XTalks

APRIL 6, 2022

Register for this webinar to get an overview of the role of long non-protein coding RNAs (lncRNAs) in gene regulations. If that happens, it is a big setback for patients and the doctors treating them,” said Dr. Rosenfeld in a news release by Cancer Research UK. Live and On-Demand: Thursday, April 21, 2022, at 11am EDT (4pm BST/UK).

DNA 105

DNA In-Vitro Doctors Doctor 105

pharmaphorum

SEPTEMBER 9, 2020

Charlie told pharmaphorum how his search for a genetic cause has led him to straddle the divide between scientist and patient advocate. He is currently the patient advocacy and engagement lead at Congenica, a digital health company that is investigating the genetic basis of rare diseases. For some people, a job is more than just a job.

Genome 80

Genome Genomics Genetics Genome Project 80

pharmaphorum

AUGUST 11, 2022

Pharmacogenomics, the understanding of how genes impact an individual’s response to medications, provides a potential outlet to better optimised therapies. The participants undergo monitoring for genetic variations that could potentially negatively impact their reaction to therapies. About the Author.

Genome 98

Genome Genomics Drugs Genetics 98

pharmaphorum

JUNE 24, 2022

Wilson disease is a rare and progressive genetic condition in which the body’s process for removing excess copper is broken, allowing it to build to toxic levels and damage the liver, brain and other vital organs. Now, the data has been revealed – and according to investigators could transform treatment.

Drugs 100

Drugs Gene Therapy Trials Compliance 100

pharmaphorum

FEBRUARY 28, 2022

Many of the small challenges that face individual doctors and patients in seeking to find a solution for a rare disease also contribute to the difficulty of researching and developing an effective treatment. Once diagnosed, only 5% of rare diseases actually have an effective treatment. The outlook for rare disease R&D.

Gene Therapy 104

Gene Therapy Development Gene Medicine 104

XTalks

OCTOBER 15, 2021

The cell line, called HeLa, laid the foundation for many groundbreaking discoveries, including vaccines for the human papilloma virus (HPV) and polio; drugs for HIV and cancers; gene mapping; IVF treatment; and more recently, for crucial COVID-19 research. Fittingly, it was also used to develop the vaccine against cervical cancer.

Vaccine 105

Vaccine Vaccination Gene Mapping Doctors 105

Bioengineer

JULY 22, 2021

Geneticists from Trinity College Dublin have discovered how a specific genetic mutation called H3K27M causes a devastating, incurable childhood cancer, known as diffuse midline glioma (DMG), and – in lab studies working with model cell types – successfully reverse its effects to slow cancer cell growth with a targeted drug.

Genetics 52

Genetics Drugs Clinical Trials Clinical Trials 52

pharmaphorum

AUGUST 13, 2020

NS Pharma’s Viltepso (viltolarsen) has been approved in patients who have confirmed mutation of the DMD gene that is amenable to exon 53 skipping. The DMD gene is made up of 79 exons, and mutations in that code can result in a deficiency in dystrophin which is responsible for the muscle wasting in DMD.

FDA Approval 52

FDA Approval Drugs Gene Trials 52

Pharmaceutical Technology

NOVEMBER 4, 2022

Through this work, a mutation was discovered in the lung cancer gene. And the oral treatment was highly effective for patients with this gene mutation, whereas the treatment was largely ineffective for lung cancer patients without the mutation. That has the potential to save the NHS huge amounts of money.”.

Medicine 130

Medicine Development Research Gene 130

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. December 5, 2:00 PM – 3:30 PM; Platform A: Translational Research / Genetics. Genetics / 12A. 4, 2020 14:57 UTC. BEDFORD, Mass.–( Human Studies.

Medicine 52

Medicine Genetics Clinical Trials Clinical Trials 52

Scienmag

DECEMBER 22, 2020

Clinicians view autism as a broad spectrum of related disorders, and the origin of the disease’s heterogeneity has puzzled scientists, doctors, and affected families for decades. NEW YORK, NY (Dec. 22, 2020)–One of the most recognizable characteristics of autism is an amazing diversity of associated behavioral symptoms.

Doctors 53

Doctors Doctor Scientist Research 53

pharmaphorum

NOVEMBER 24, 2020

The FDA has approved Alnylam’s gene silencing drug Oxlumo, the first treatment for primary hyperoxaluria type 1 (PH1), an ultra-rare and life-threatening genetic disorder. The disease is also difficult to diagnose and often takes around six years before doctors correctly identify it.

FDA Approval 52

FDA Approval Gene Silencing Drugs RNA 52

XTalks

AUGUST 10, 2021

This “SHERLOCK reaction” is designed to cut SARS-CoV-2 RNA at a specific region in the nucleoprotein gene that is conserved across multiple variants of the virus, and which codes for proteins involved in formation of the viral nucleocapsid. A porous membrane was engineered to capture RNA on its surface. miSHERLOCK Workflow.

RNA 105

RNA Containment DNA Engineer 105