STAT News

JANUARY 24, 2023

A rare genetic disorder kept her from even lifting her head. Then, months later, doctors delivered gene therapy directly to her brain. When Rylae-Ann Poulin was a year old, she didn’t crawl or babble like other kids her age. Her parents took turns holding her upright at night just so she could breathe comfortably and sleep.

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Gene Therapy Gene Genetics Doctors 98

Medical Xpress

DECEMBER 2, 2022

These findings could one day help doctors better select targeted treatments for patients with this immune disorder. 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.

Bacteria 75

Bacteria Genetics Doctors Doctor 75

STAT News

NOVEMBER 9, 2022

To protect this child from the same genetic disease that killed two older siblings, treating her as soon as she was born might only work so well, the doctors knew. So they dialed back the therapeutic clock, delivering the medication to her as a fetus. Now 16 months old, Ayla appears totally healthy.

Genetic Disease 111

Genetic Disease Genetics Doctor Doctors 111

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.

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Genetics Doctors Doctor Gene 52

Scienmag

OCTOBER 18, 2021

Louis have surveyed cancer doctors to identify differences in physician attitudes and beliefs that may contribute to a gap in referrals to genetic counseling and testing between Black women and white women with breast cancer. Researchers at Washington University School of Medicine in St.

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Genetics Doctors Doctor Medicine 52

Medical Xpress

FEBRUARY 7, 2025

Imagine your doctor calls you to discuss the results of your genetic testing. But not to worry, because they caught it early, you can start a personalized course of treatment tailored to your unique genetic makeup right away. They tell you your results indicate you are highly likely to develop Alzheimer's disease.

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Genetics Doctors Doctor Development 70

STAT News

DECEMBER 6, 2022

Ivan Cheung, the CEO of Eisai , the lecanemab developer, said at a STAT event Monday night that if patients carry a particular genetic variant that increases the risk of bleeding in the brain when taking the drug, they should only take the medicine if they and their families are willing to submit to close monitoring from doctors.

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Drugs Doctor Doctors Genetics 98

XTalks

JUNE 12, 2024

It leverages various patient-specific factors, including genetics, age, weight, organ function and even lifestyle, to determine the most appropriate dosage for each individual. Dr. Roy is passionate about leveraging technology to amplify the impact of the pharmacist.

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Life Science Pharmacy Doctor Doctors 97

Pharmaceutical Technology

JUNE 29, 2022

Continuing advancements within this field deliver new hope to doctors and patients, transforming disease outcomes for previously incurable indications. Novozymes has a long legacy of enzyme discovery and the ability to genetically engineer these speciality enzymes to be superior. And it’s within the family – Novozymes!”.

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Drugs Gene Therapy Production Manufacturing 295

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. The genetic bleeding disorder is caused by the absence of blood clotting factor IX.

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FDA Approval Manufacturing Development RNA 105

Medical Xpress

FEBRUARY 28, 2023

Doctors, lawyers, celebrities: There's a new cosmetic surgery, of sorts, that has snared them all.

Cosmetics 98

Cosmetics Doctor Doctors Genetics 98

Intouch Solutions

JULY 9, 2024

The campaign focuses on the hidden dangers of thalassemia, a rare genetic condition affecting an estimated 8,000 Americans. To address this, our team collaborated with Agios Pharmaceuticals to create an eye-catching campaign that empowers patients and inspires doctors to monitor more closely.

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Doctors Doctor Genetics Marketing 105

pharmaphorum

FEBRUARY 25, 2021

Chaired by the Genetic Alliance, the virtual meeting saw representatives from Scotland, England, Wales, and Northern Ireland discuss the implementation of the UK Government’s Rare Disease Framework. We now know that 80% of rare diseases have a genetic origin. Genomic technology, therefore, has a key role to play in our work,” he said.

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Genome Genomics Genetics Medicine 111

The Pharma Data

SEPTEMBER 7, 2020

But less than 12% of 86 NHS care commissioning groups asked by the BBC said they were running such services.

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Doctor Doctors Medicine Genetics 52

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

Scienmag

MARCH 15, 2021

For their study, the team led by bioinformatics professor Andreas Keller and his doctoral student […]. Credit: Oliver Dietze In their study, which is now published in the journal Nature Aging, they show that the level of non-coding RNAs in the blood of a Parkinson’s patient can be used to track the course of the disease.

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Bioinformatics Doctors Doctor Genetics 92

Scienmag

JANUARY 27, 2021

Credit: John Wallace, VCU Massey Cancer Center Doctors are increasingly using genetic signatures to diagnose diseases and determine the best course of care, but using DNA sequencing and other techniques to detect genomic rearrangements remains costly or limited in capabilities.

DNA 52

DNA Genome Genomics Doctors 52

XTalks

MAY 26, 2023

DEB is a genetic disorder characterized by very fragile skin that rips and blisters easily even from minor friction (like rubbing or scratching) or injury, resulting in open wounds that are prone to skin infections and fibrosis. Vyjuvek is also the first drug approved to treat the disease and is Krystal’s first approved product.

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Gene Therapy Gene Dermatology FDA Approval 97

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

STAT News

APRIL 3, 2023

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. Millions of stem cells that were collected from 6-year-old Conner Hess’s blood in January flowed through the IV and entered his bloodstream.

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Gene Therapy Nurses Gene Doctor 98

pharmaphorum

NOVEMBER 3, 2020

Allison’s son David was just six when he started displaying the symptoms of (R)20, a genetic condition that can cause multiple, uncontrollable seizures, declines in cognition and mobility, and terrifying hallucinations. There are no clinical practice guidelines, meaning doctors treat on a case-by-case basis.

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Gene Sequencing Gene Genome Genomics 118

pharmaphorum

SEPTEMBER 17, 2020

The vaccine is based on a weakened virus that causes cold symptoms in chimpanzee, which causes an immune respone with genetic material coding for the spike protein found on the surface of the coronavirus.

Vaccine 105

Vaccine Vaccination Trials Medicine 105

XTalks

APRIL 6, 2022

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. We’re hoping that this technology could help doctors decide when additional rounds of treatment are needed, and could save lives.”.

DNA 105

DNA In-Vitro Doctors Doctor 105

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.

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Genetic Disease Protein RNA Doctors 104

pharmaphorum

AUGUST 11, 2022

The participants undergo monitoring for genetic variations that could potentially negatively impact their reaction to therapies. Doctors can also cut down on the guesswork involved in finding treatments, enabling them to see more patients. About the Author.

Genome 98

Genome Genomics Drugs Genetics 98

XTalks

AUGUST 21, 2023

“For the first time, doctors have an approved medicine available to them, shown to reduce the formation of new, abnormal bone growth, known as heterotopic ossification (HO), which causes debilitating mobility challenges and has a devastating impact on the lives of people with FOP.”

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Drugs FDA Approval Genetics Clinical Trials 98

XTalks

MAY 20, 2022

Doctors and physicians rely on the results provided by a clinical scientist to make an accurate prognosis, diagnosis and assessment for a patient’s treatment plan. Interpret medical tests and confer with doctors and physicians for a suitable prognosis and treatment plan. Genetic Science. Respiratory Physiology. Microbiology.

Scientist 105

Scientist Life Science Clinical Research Doctors 105

pharmaphorum

JANUARY 20, 2021

Ella, 28, was diagnosed with cystic fibrosis – a rare genetic disease which causes a build-up of thick, sticky mucus in the lungs, digestive tract, and sinuses – at 18 months old. This sticky mucus gets trapped and breeds infections from bacteria I inhale,” says Ella, who adds she was “terrified” of doctors as a child.

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Bacteria Bacterium DNA Doctors 113

pharmaphorum

AUGUST 1, 2022

There has been speculation that muscle weakness and/or myocarditis may be a class risk for gene therapies that are delivered using adeno-associated virus (AAV) vectors, and work is ongoing to see if the risk could be mitigated by identifying genetic risk factors or preventative treatments.

Gene Therapy 105

Gene Therapy Gene Genetics Trials 105

XTalks

APRIL 21, 2023

Genome sequencing requires a powerful sequencer to decode the genetic makeup and an equally powerful analysis platform to make sense of the data generated. WGS can also help identify the specific genetic alterations that underlie drug resistance in cancer cells. Is Whole Genome Sequencing Covered by Insurance?

Genome 97

Genome Genomics Bioinformatics Genetics 97

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.

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Gene Doctors Doctor Clinical Trials 107

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).

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Gene Therapy Gene Doctors Doctor 58

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

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

NOVEMBER 23, 2021

The introduction of WGS would provide an additional layer of screening for a wide range of genetic markers associated with rare disorders. Sukhvinder is based in the UK and started her career in the laboratories doing post-doctoral research as a Virologist/Molecular Biologist. About the author.

Genome 116

Genome Genomics Genetics Doctor 116

The Pharma Data

DECEMBER 17, 2020

Dr. Lisa Forbes — his doctor and co-author of a letter describing his case in the Oct. This patient had a genetic mutation that ruxolitinib is known to work on. Forbes said it’s not clear if other people with type 1 diabetes also have this specific genetic mutation. WEDNESDAY, Oct.

Insulin 52

Insulin Genetics Doctors Doctor 52

pharmaphorum

OCTOBER 6, 2022

By reducing the disease to its key components, a computer-readable network of disease markers was characterised using genetic, biomarker, and clinical data; the model was also populated with ‘disease vs control’ data. About the author. Dr. Chris Cheadle is the Director of Research for Biology Products, Elsevier Life Sciences.

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In-Vivo Research Genetics Drugs 98