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 
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…
Genetic Disease 
119
119 Join 32,000+
Insiders
Sign Up for our Newsletter
This site is protected by reCAPTCHA and the Google Privacy Policy and Terms of Service apply.
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.
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.
Study finds 41% of infant deaths associated with genetic diseases
Medical Xpress
FEBRUARY 9, 2023
In a study appearing today in JAMA Network Open, Rady Children's Institute for Genomic Medicine (RCIGM) researchers found that the contribution of genetic diseases to infant deaths was higher than previously recognized.
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.
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.
Gene Therapy 130
130 
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.
Genetic Disease 117
117 
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.
Genetic Disease 330
330 
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.
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.
Gene Therapy 116
116 
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.
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.
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.
Life Science 130
130 
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.
Gene Therapy 313
313 
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.
Genetic Disease 130
130 
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.
Genetics 98
98 
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.
FDA Approval 118
118 
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.
Genetics 105
105 
In a first, children with rare genetic diseases get mitochondrial transplants from their mothers
STAT News
DECEMBER 21, 2022
At a far distant point in Earth’s ancient past, two separate, single-celled life forms — an archaeon and a bacteria — became one in an act either of symbiosis or enslavement, depending on which microbiologist you ask.
Genetic Disease 128
128 
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 →
Vertex secures FDA clearance for infants’ cystic fibrosis therapy
Pharmaceutical Technology
MAY 4, 2023
CF is a rare, life-shortening genetic disease that is estimated to impact over 88,000 people across the globe. The progressive multi-organ disease affects the patients’ lungs, liver, pancreas, GI tract, sinuses, sweat glands and reproductive tract.
Genetic Disease 246
246 
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.
Genetics 98
98 
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).
Genetics 75
75 
bluebird bio wins back-to-back landmark FDA approvals for first-in-class gene therapies
Pharmaceutical Technology
SEPTEMBER 30, 2022
Skysona is indicated as a one-time gene therapy to slow the progression of cerebral adrenoleukodystrophy (CALD), a rare paediatric neurodegenerative disease in boys aged 4–17 years diagnosed with early-stage CALD. These approvals represent crucial milestones for bluebird bio, the gene therapy field, and patients with rare genetic diseases.
Gene Therapy 289
289 
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.
Genetics 96
96 
US FDA approves Krystal Biotech’s Vyjuvek for DEB
Pharmaceutical Technology
MAY 22, 2023
It is claimed to be both the first re-dosable gene therapy and the first and only FDA-approved treatment for both recessive and dominant types of DEB, a rare and serious genetic disease affecting the skin and mucosal tissues.
FDA Approval 130
130 
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 (..)
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 →
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.
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).
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.
Hopewell Therapeutics raises funds for genomic medicines development
Pharmaceutical Technology
JUNE 8, 2023
“The ground-breaking research and intellectual property in LNP [lipid nanoparticle] design and delivery established by Professor Xu over the last decade provide a solid foundation for Hopewell to develop our own internal pipeline, initially targeting diseases of the lung while concurrently exploring the potential of our ttLNP platform for patients (..)
Genome 130
130 
Astellas to support development of Taysha’s gene therapy programmes
Pharmaceutical Technology
OCTOBER 25, 2022
Astellas chief strategy officer Naoki Okamura said: “Gene therapy is the cornerstone of Astellas’ Primary Focus, Genetic Regulation; our goal is to bring new transformative treatment options to patients living with serious genetic diseases and limited treatment options.
Gene Therapy 264
264 
“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.
Genetics 97
97 
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 →
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.
Genetics 98
98 
Forge Biologics joins BGTC for new AAV gene therapies development
Pharmaceutical Technology
MAY 24, 2023
The BGTC aims to expedite the development, manufacture and delivery of customised or “bespoke” gene therapies to treat rare diseases, including some which are too rare to be of commercial interest. The collaboration creates a reusable standardised method that minimises upfront costs and helps to reduce development barriers.
Gene Therapy 242
242 
Researchers reverse the in vitro and in vivo effects of the mutation that causes Stormorken syndrome
Medical Xpress
MAY 16, 2023
They study gene variation and mutations that cause rare genetic diseases. A mutation is a permanent change in the genetic material. 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.
In-Vitro 98
98 
Proposed EU clinical assessment rules would reject ATMPs
Drug Discovery World
JUNE 22, 2023
According to ARM, all seven gene therapies for rare genetic diseases would have been rejected under the baseline methodologies proposed for the EU joint clinical assessment (JCA) starting in 2025.
Gene Therapy 94
94 
STAT+: Moderna expands CRISPR gene editing research with ElevateBio partnership
STAT News
FEBRUARY 22, 2023
The Cambridge biotech company announced Wednesday that it will partner with Life Edit Therapeutics to develop potentially permanent treatments for rare genetic diseases and other conditions. Moderna is aiming to build a gene editing franchise powered by some of the same technologies used in its COVID-19 vaccines.
Gene Editing 126
126 
Let's personalize your content