Medical Xpress

MAY 16, 2023

That was the case when Thilini Gamage was to carry out one of the studies in her doctoral work with Professor Eirik Frengen at the Institute of Clinical Medicine, University of Oslo. They study gene variation and mutations that cause rare genetic diseases. A mutation is a permanent change in the genetic material.

In-Vitro 92

In-Vitro In-Vivo Genetic Disease Genetics 92

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

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

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 73

Bacteria Genetics Doctor Doctors 73

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 Doctor Doctors 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 Doctor Doctors 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 Doctors 98

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.

Genome 105

Genome Genomics Clinical Trials Clinical Trials 105

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

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

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

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

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

Pharmaceutical Technology

FEBRUARY 28, 2023

The vast majority of rare diseases have a genetic cause, with well-known examples including cystic fibrosis, sickle cell disease, Huntingdon’s, and various muscular atrophies and dystrophies. This often puts patients in difficult situations where they are passed between doctors until a correct diagnosis is reached.

Medicine 130

Medicine Marketing Production Drugs 130

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.

Doctor 53

Doctor Doctors 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

The Pharma Data

SEPTEMBER 1, 2021

Louis have genetically engineered cells that, when implanted in mice, will deliver a biologic drug in response to inflammation. “We used CRISPR technology to reprogram the genes in stem cells. million adults in the United States. Simon Professor of Orthopaedic Surgery. ” The new findings are published online Sept.

Drugs 52

Drugs Engineer Drug Delivery Gene 52

Pharmaceutical Technology

APRIL 13, 2023

Metabolic disorders are top therapy areas Analysis curated by GlobalData [5] shows the top three therapy areas for DCT adoption in the first quarter of 2022 were metabolic disorders, followed by central nervous system (CNS) and genetic disorders. However, there is still some use of remote patient monitoring technologies.

Clinical Trials 130

Clinical Trials Clinical Trials Trials Dermatology 130

pharmaphorum

MARCH 19, 2021

Approximately 85% of rare diseases are genetic, offering significant opportunities to develop better treatments as our understanding of the human genome improves 1. Scientists have identified responsible genes for approximately 50% of the estimated 7000 rare diseases 2. Referral triggers may also be different.

Branding 52

Branding Genome Genomics Genetics 52

Bioengineer

JULY 23, 2021

. “By applying high-resolution imaging, advanced cell and molecular readouts and RNA sequencing methods leveraging the OTME-Chip, we discovered the actual genetic signaling pathways behind the blood cell triggered metastasis of ovarian cancer and a new drug strategy to stop this process.” ” ###.

Engineer 52

Engineer Gene Editing Clinical Trials Clinical Trials 52

XTalks

MAY 17, 2024

Dr. Philipson’s transition to the biotech sector began with a position at UK-based biotech Trizell, where his efforts culminated in a gene therapy FDA submission for bladder cancer. Reflecting on the evolution of rare disease treatments, Dr. Philipson emphasizes the critical role of understanding disease biology and genetics.

Development 52

Development Drugs Clinical Trials Clinical Trials 52

Pharma Marketing Network

FEBRUARY 27, 2025

For example, a LinkedIn article on the future of gene therapy can position a brand as an authority in genetic medicine, attracting biotech investors, researchers, and prescribing physicians. Doctor-patient interviews on managing chronic conditions. Engage in LinkedIn groups to build relationships with physicians and researchers.

Branding 52

Branding Marketing Compliance Pharma Companies 52

pharmaphorum

JANUARY 29, 2021

‘Cutting edge’ is, for once, a truly apt description when it comes to gene editing – both because the field is pushing medicine into areas we might never have dreamed possible, and because these technologies involve literally cutting DNA at a specific point in the genome. Zinc fingers. The exact mechanism depends on the disease in question.

Gene Editing 145

Gene Editing Gene Gene Therapy In-Vivo 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

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

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

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

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

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