DeepMind applies its AI expertise to genetic diseases
pharmaphorum
SEPTEMBER 20, 2023
DeepMind applies its AI expertise to genetic diseases Phil.Taylor Wed, 20/09/2023 - 07:55 Bookmark this
Genetic Disease Related Topics 
In a first, doctors treat fatal genetic disease before birth
Medical Xpress
NOVEMBER 12, 2022
and Canada used a novel technique to treat her before she was born for a rare genetic disease that caused the deaths of two of her sisters. A toddler is thriving after doctors in the U.S.
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Amylyx Plots New Path in Rare Genetic Disease After Relyvrio Withdrawal
BioSpace
APRIL 11, 2024
On the heels of withdrawing Relyvrio from the U.S. and Canadian markets, Amylyx is now charting a path in Wolfram syndrome with promising interim Phase II data for its lead asset AMX0035.
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Study suggests DNA sequencing could reduce infant deaths, often caused by genetic disease
STAT News
FEBRUARY 9, 2023
But a new study focuses on a much more somber set of stories: those of infants who died with genetic diseases and who in some cases could have been treated, perhaps even saved. Or the baby girl who could have had a life-threatening reaction to anesthesia had researchers not sequenced her DNA ahead of time. Read the rest…
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Researchers advance knowledge on debilitating genetic disease
Medical Xpress
FEBRUARY 24, 2023
A team of researchers at the University of Georgia has identified the source of several symptoms in patients suffering from familial dysautonomia (FD), a rare and debilitating genetic disease that primarily affects children.
AavantiBio and Catalent Announce Partnership to Support Development and Manufacturing of Gene Therapies for Rare Genetic Diseases
Pharma Mirror
APRIL 28, 2021
The post AavantiBio and Catalent Announce Partnership to Support Development and Manufacturing of Gene Therapies for Rare Genetic Diseases appeared first on Pharma Mirror Magazine. Catalent will further support process optimization and look to reduce material.
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Research Roundup: Ancestry in Cancer Treatment, Nanotech, Genetic Diseases and More
BioSpace
OCTOBER 6, 2022
This week, researchers presented findings in how ancestry affects cancer treatment, nanotechnology and genetic diseases. Here's a look at that and more.
Research team makes important step toward a therapy for a rare genetic disease
Medical Xpress
APRIL 26, 2023
Usher Syndrome type 1F is a rare but severe genetic disease that causes deafness, lack of balance, and progressive blindness.
Why early participant engagement is now a top priority in genetic disease research
pharmaphorum
JANUARY 18, 2023
And if participants have opted in to be made aware of their risks of genetic diseases, then communication has to be carefully considered. At the same time, the fraction of clinical trials that include genetic markers is increasing.
Ionis Notches Phase III Win in Rare Genetic Disease, Plans to Submit NDA
BioSpace
SEPTEMBER 25, 2023
The company’s olezarsen cleared a late-stage study, eliciting a sharp reduction in triglyceride levels in patients with familial chylomicronemia syndrome. Ionis plans to submit a New Drug Application to the FDA.
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How many babies die from genetic diseases because they're not tested? Too many, researchers say
Medical Xpress
FEBRUARY 10, 2023
Genetic diseases kill more infants than anyone realizes.
FDA widens use of cancer drug Merck acquired for $1B
Bio Pharma Dive
DECEMBER 15, 2023
Welireg, which Merck got through its purchase of Peloton Therapeutics, can now be used to treat an advanced form of kidney cancer, adding to an earlier clearance in a rare genetic disease.
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New approach to diagnosing genetic diseases using RNA sequencing increases yield
Scienmag
OCTOBER 27, 2020
In the world of rare genetic diseases, exome and genome sequencing are two powerful tools used to make a diagnosis. A recent addition to the toolkit, RNA sequencing, has been demonstrated to help researchers narrow down disease candidate variants identified first on exome and genome sequencing.
Orchard sets new gene therapy price tag at $4.25M—the steepest of any drug in the US
Fierce Pharma
MARCH 20, 2024
After scoring an FDA nod Monday for the first gene therapy to treat the rare genetic disease metachromatic leukodystrophy (MLD) in the U.S., Kyowa Kirin and its subsidiary Orchard Therapeutics have | After scoring an FDA nod Monday for the first gene therapy to treat the rare genetic disease metachromatic leukodystrophy in the U.S.,
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Scientists discover new genetic disease that delays brain development in children
Scienmag
MARCH 30, 2021
Credit: Gretel Nicholson, EXRC Scientists have discovered a new genetic disease, which causes some children’s brains to develop abnormally, resulting in delayed intellectual development and often early onset cataracts.
Takeda Likely to Drop Rare Genetic Disease Candidate After Phase II Fail
BioSpace
JULY 27, 2023
Despite beating analyst expectations, Takeda sustains a mid-stage defeat in a rare genetic disorder, leaving the fate of an investigational enzyme replacement therapy uncertain.
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Study sheds light on causes of rare genetic diseases in 5,500 people
Medical Xpress
APRIL 12, 2023
Around 5,500 people with severe developmental disorders now know the genetic cause of their condition, thanks to a major nationwide study in the U.K. that will help improve diagnosis across the world.
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Merck wins approval for cancer drug acquired in 2019 biotech buyout
Bio Pharma Dive
AUGUST 16, 2021
The FDA cleared Welireg, which Merck picked up in its $1 billion takeover of Peloton Therapeutics, to treat certain tumors associated with a rare genetic disease.
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Rare, deadly genetic disease successfully treated in utero for first time
Medical Xpress
NOVEMBER 10, 2022
Using a protocol developed at UC San Francisco, physicians have successfully treated a fetus with a devastating genetic disorder for the first time, and the child is now thriving as a toddler, a case study in the New England Journal of Medicine reports.
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Rare genetic disease may protect Ashkenazi Jews against TB
Medical Xpress
FEBRUARY 6, 2023
Scientists may have solved the question of why Ashkenazi Jews are significantly more susceptible to a rare genetic disorder known as Gaucher disease—and the answer may help settle the debate about whether they are less susceptible to tuberculosis (TB).
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UniQure moves Huntington's gene therapy to next phase of key trial
Bio Pharma Dive
MAY 27, 2021
Safety monitors cleared the company to test a higher dose after reviewing data from 10 patients, providing some hopeful news after recent setbacks for experimental drugs targeting the genetic disease.
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UCSF and BridgeBio Pharma Collaborate to Accelerate the Development of Therapies for Genetic Diseases
BioTech 365
DECEMBER 23, 2020
UCSF and BridgeBio Pharma Collaborate to Accelerate the Development of Therapies for Genetic Diseases UCSF and BridgeBio Pharma Collaborate to Accelerate the Development of Therapies for Genetic Diseases SAN FRANCISCO, Dec. 23, 2020 (GLOBE NEWSWIRE) — UC San Francisco (UCSF) … Continue reading →
#news #biotech Penn team uses CRISPR to edit out genetic disease before and after birth in mice
BioTech 365
JULY 13, 2021
Biotechnology, Pharma and Biopharma News – Research – Science – Lifescience ://Biotech-Biopharma-Pharma: Penn team uses CRISPR to edit out genetic disease before and after birth in mice.Penn team uses CRISPR to edit out genetic disease before and after birth … Continue reading →
Research on rare genetic disease sheds light on common head and neck cancer
Medical Xpress
NOVEMBER 30, 2022
In any given cell at any given time, molecular processes are underway to seal cracks in the double helix or proofread the genetic code, all part of a perpetual upkeep program that maintains the body's status quo and staves off disease.
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JPM24: BioMarin's new CEO Hardy says top priority is expansion of dwarfism drug Voxzogo
Fierce Pharma
JANUARY 10, 2024
In his first presentation as the new CEO of BioMarin, Alexander Hardy left no doubt about his mission for the rare and genetic disease specialist. | In his first presentation as the new CEO of BioMarin, Alexander Hardy left no doubt about his mission for the rare and genetic disease specialist.
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Novel test could ensure newborns with a serious genetic disease receive essential treatment
Medical Xpress
MARCH 15, 2023
Scientists have developed a test that could greatly improve quality of life for infants with homocystinuria (HCU), a congenital disease that—if not treated early—causes serious complications. Research demonstrating the efficacy of this test was published today in Clinical Chemistry.
Rare genetic disease: Researchers discover new treatment for ADCY5-related dyskinesia
Medical Xpress
MARCH 6, 2023
The movement disorder ADCY5-related dyskinesia can be treated with the asthma drug theophylline. This has been shown in a recent study by Martin Luther University Halle-Wittenberg (MLU), University Medicine Halle and University of Leipzig Medical Center.
Astellas Sees Path Forward for Gene Therapy Despite Four Patient Deaths
BioSpace
NOVEMBER 15, 2023
The Japanese pharma contends that an analysis of the four deaths in its AT132 gene therapy clinical trial shows it is still viable as a potential treatment for a fatal, rare genetic disease.
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RNAi Technology Market- by Application (Cancer, Infectious Diseases, Ophthalmic Diseases, Genetic Diseases, and Other Diseases) and by Region – Global Forecasts 2020-2024 | Technavio
BioTech 365
DECEMBER 3, 2020
RNAi Technology Market- by Application (Cancer, Infectious Diseases, Ophthalmic Diseases, Genetic Diseases, and Other Diseases) and by Region – Global Forecasts 2020-2024 | Technavio RNAi Technology Market- by Application (Cancer, Infectious Diseases, Ophthalmic Diseases, Genetic Diseases, and Other Diseases) and … Continue reading (..)
Rare genetic disease caused by mutations in protein that controls RNA metabolism
Scienmag
MAY 7, 2021
Credit: UPMC PITTSBURGH, May 7, 2021 – In a paper published today in Nature Communications, an international group of collaborators led by researchers at UPMC Children’s Hospital of Pittsburgh have identified a genetic cause of a rare neurological disorder marked by developmental delay and loss of coordination, or ataxia.
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Leveraging Genetic Testing for Enrolling Rare Disease Trials
Worldwide Clinical Trials
JANUARY 24, 2024
Much of what we discuss I covered in my presentation, “Leveraging Genetics to Support Rare Disease Clinical Trials,” at last year’s World Orphan Drug Congress (WODC) EU. Newborn Sequencing is a research initiative that allows for a baby’s full genome to be sequenced at birth, diagnosing their genetic diseases.
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FDA Approves BioMarin’s Voxzogo for Young Children with Dwarfism
BioSpace
OCTOBER 22, 2023
The label for the achondroplasia drug, which promotes endochondral bone growth, now covers children under five years of age with the rare genetic disease causing the most common form of dwarfism.
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Agios to Present Broad Set of Clinical and Translational Data for Oncology and Rare Genetic Disease Programs at the Virtual 2020 ASH Annual Meeting
BioTech 365
NOVEMBER 4, 2020
Agios to Present Broad Set of Clinical and Translational Data for Oncology and Rare Genetic Disease Programs at the Virtual 2020 ASH Annual Meeting Agios to Present Broad Set of Clinical and Translational Data for Oncology and Rare Genetic Disease … Continue reading →
Abu Dhabi DoH signs new deal to accelerate development in life sciences
Pharmaceutical Technology
JUNE 16, 2023
The Abu Dhabi Department of Health (DoH) in the UAE has made a declaration of collaboration with Mass General Brigham’s (MGB) International Center for Genetic Disease (iCGD) to advance life sciences.
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Illumina and the University Hospital of Tübingen Evaluate Potential of Whole Genome Sequencing to Improve Diagnosis of Full Range of Genetic Diseases
BioTech 365
FEBRUARY 18, 2021
Illumina and the University Hospital of Tübingen Evaluate Potential of Whole Genome Sequencing to Improve Diagnosis of Full Range of Genetic Diseases Illumina and the University Hospital of Tübingen Evaluate Potential of Whole Genome Sequencing to Improve Diagnosis of Full … Continue reading →
MiNA and BioMarin partner to speed development of RNAa therapies
Pharmaceutical Technology
APRIL 26, 2023
MiNA Therapeutics has entered into a research collaboration and option licensing agreement with BioMarin Pharmaceutical to speed up the development of therapeutic ribonucleic acid activation (RNAa) candidates to treat rare genetic diseases. The new deal excludes oncology and other therapeutic areas outside the scope of genetic disease.
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Truth or Myth: How Accurate Are Home DNA Test Kits?
Pharma Mirror
JANUARY 2, 2024
When someone seeks information about paternity or genetic diseases without visiting a doctor’s chamber or laboratory, the best alternative is the at-home DNA test kit. The popularity of at-home DNA testing is soaring in popularity and uses. The question which concerns everyone is, ‘are home DNA test kits accurate?’.
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Orphazyme’s Stocks Tumble After FDA Rejects Genetic Disease Drug
BioSpace
JUNE 17, 2021
The FDA said that the drug, which has been studied and submitted for NPC indication, needs further data to support its use in this rare, progressive genetic disorder.
Just two kids worldwide are known to have this rare genetic disease. Their parents united for a cure
Medical Xpress
MARCH 16, 2023
When Yoni Silverman, now 13, was a toddler, his parents fretted as he missed milestone after milestone. The New York City couple took their son to a host of specialists, searching for answers about why he wasn't speaking and had difficulty with balance, among other developmental issues.
UCLA receives $4.8M to improve genetic disease risk estimates in diverse populations
Scienmag
JUNE 16, 2021
million grant from The National Institutes of Health to develop methods that will improve genetic risk estimates – polygenic risk scores – for specific diseases in people from diverse populations and mixed ancestries. LOS ANGELES (June 16, 2021) – UCLA Health will receive a $4.8
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Moderna seals pact with Life Edit Therapeutics to tackle genetic diseases with mRNA-based gene editing
BioPharma Reporter
FEBRUARY 23, 2023
The messenger RNA (mRNA) specialist Moderna has teamed up with ElevateBio-owned Life Edit Therapeutics to develop gene editing therapies that are delivered into patients in vivo.
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Abu Dhabi Department of Health links with Mass General Brigham to advance genomics research
BioPharma Reporter
JUNE 19, 2023
Abu Dhabi’s Department of Health has collaborated with Mass General Brigham's International Center for Genetic Disease (iCGD).
“Soft” CRISPR may offer a new fix for genetic defects
Scienmag
JULY 1, 2022
Curing debilitating genetic diseases is one of the great challenges of modern medicine. During the past decade, development of CRISPR technologies and advancements in genetics research brought new hope for patients and their families, although the safety of these new methods is still of significant concern.
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Vitamin B5 may be the key to treating a dangerous rare genetic condition, finds research
Medical Xpress
MARCH 7, 2023
A simple vitamin could successfully treat a rare but potentially fatal genetic disease, according to research led by a Concordia undergraduate student.
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