Epistasis

EMA confirms recommendation for non-renewal of authorisation of Duchenne muscular dystrophy medicine Translarna

Retrieved on: 
Sunday, February 4, 2024
Bias, Civil service commission, Steroid, CHMP, Cardiomyopathy, Calendar, Cell, Dystrophin, ADP, Neurology, Patient, Child, Epistasis, Ageing, EMA, Marketing, European Commission, Registry, Weakness, Data analysis, Physician, Disease, MAH, Risk, Death, Health care, Duchenne muscular dystrophy, Medicine

This medicine is used for treating patients with Duchenne muscular dystrophy whose disease is caused by a type of genetic defect called a ‘nonsense mutation’ in the dystrophin…

Key Points: 


This medicine is used for treating patients with Duchenne muscular dystrophy whose disease is caused by a type of genetic defect called a ‘nonsense mutation’ in the dystrophin…

SparingVision Reaches Final Dose Escalation Step in PRODYGY Trial with SPVN06 for retinitis pigmentosa

Retrieved on: 
Wednesday, January 24, 2024
Data monitoring committee, Patient, RP, DSMB, PDE6A, Geographic atrophy, Retina, Mutation, IND, Epistasis, Disease, Paratriathlon, Safety, PDE6B, Investigational New Drug, KOL, RHO, Retinitis pigmentosa, Part Two, RCD, Pharmaceutical industry

The trial has now progressed to the final dose cohort of the dose-escalation phase (Part 1).

Key Points: 
  • The trial has now progressed to the final dose cohort of the dose-escalation phase (Part 1).
  • SPVN06 is a breakthrough gene therapy approach aimed at stopping or slowing disease progression in patients affected by rod-cone dystrophy, (RCD), regardless of their genetic background.
  • SparingVision is initially focusing on mid-stage RP, one of the leading inherited causes of blindness globally.
  • This progress of the PRODYGY trial to the third cohort at the highest dose of SPVN06 follows an earlier positive recommendation from the DSMB to dose the second cohort at the medium dose in August 2023.

Dewpoint Therapeutics Awarded Target ALS Grant for Development of C-mods for ALS

Retrieved on: 
Tuesday, January 16, 2024
Pathology, Patient, Target, Research, ALS, Dew point, ALS Association, C9orf72, Biotechnology, Science, Repeat, Jackson Laboratory, Mutation, Epistasis, Disease, Therapy, Neurodegenerative disease, Pharmaceutical industry

Challenges to develop effective therapeutics for ALS stem, in part, from the diverse, and poorly understood genetic background of the patients.

Key Points: 
  • Challenges to develop effective therapeutics for ALS stem, in part, from the diverse, and poorly understood genetic background of the patients.
  • Dewpoint leverages an aberration that occurs in ~97% of all ALS patients – independent of genetic background – to drive the discovery and development of a new, and potentially more effective class of therapeutics.
  • “Receiving the Target ALS grant is a tremendous honor and a significant validation for Dewpoint’s novel, therapeutic approach to target condensatopathies,” said Ameet Nathwani, CEO of Dewpoint Therapeutics.
  • Dr. Amy Easton, Sr. Director of Scientific Programs at Target ALS said "Target ALS is excited to fund the generation of in vivo target validation data to support development of Dewpoint Therapeutics’ clinical candidate for ALS.

Exact Sciences Presents Multiple Studies at San Antonio Breast Cancer Symposium Supporting Optimization and Individualization of Therapy for Breast Cancer Patients

Retrieved on: 
Friday, December 1, 2023
BRCA1, HR, PALB2, Magnetic resonance imaging, Nottingham Prognostic Index, Woman, Research, Prevalence, Gene, ICI, Breast cancer, Cancer, DS, Risk, Disease, Epistasis, Patient, Tumor microenvironment, DCIS, Exact sciences, Ductal carcinoma, Gene expression, Genetic testing, Messenger, BRCA2, NPI, HER2, MammaPrint, Oncotype (Denmark), Medicine, Biomarker, ERBB2, Summary, Neoplasm, Recurrence, Clinical, TNBC, Medical imaging, Birth control, Vaccine, MD

"Every year, we build upon the precedent set by the Oncotype DX Breast Recurrence Score® test and its prognostic and predictive abilities to determine the chemotherapy benefit for specific breast cancer patients.

Key Points: 
  • "Every year, we build upon the precedent set by the Oncotype DX Breast Recurrence Score® test and its prognostic and predictive abilities to determine the chemotherapy benefit for specific breast cancer patients.
  • In cooperation with several leading breast cancer research organizations, Exact Sciences will present late-breaking data and a study included in the SABCS press program.
  • Results from Puerto Rico will also detail germline findings for a cohort of women, most of whom had a personal or familial history of breast cancer.
  • Exact Sciences will also host a discussion about the Oncotype DX Breast Recurrence Score test and the RSClin® Tool.

Exact Sciences Presents Multiple Studies at San Antonio Breast Cancer Symposium Supporting Optimization and Individualization of Therapy for Breast Cancer Patients

Retrieved on: 
Thursday, November 30, 2023
BRCA1, HR, PALB2, Magnetic resonance imaging, Nottingham Prognostic Index, Woman, Research, Prevalence, Gene, ICI, Breast cancer, Cancer, DS, Risk, Disease, Epistasis, Patient, Tumor microenvironment, DCIS, Exact sciences, Ductal carcinoma, Gene expression, Genetic testing, Messenger, BRCA2, NPI, HER2, MammaPrint, Oncotype (Denmark), Medicine, Biomarker, ERBB2, Summary, Neoplasm, Recurrence, Clinical, TNBC, Medical imaging, Birth control, Vaccine, MD

"Every year, we build upon the precedent set by the Oncotype DX Breast Recurrence Score® test and its prognostic and predictive abilities to determine the chemotherapy benefit for specific breast cancer patients.

Key Points: 
  • "Every year, we build upon the precedent set by the Oncotype DX Breast Recurrence Score® test and its prognostic and predictive abilities to determine the chemotherapy benefit for specific breast cancer patients.
  • In cooperation with several leading breast cancer research organizations, Exact Sciences will present late-breaking data and a study included in the SABCS press program.
  • Results from Puerto Rico will also detail germline findings for a cohort of women, most of whom had a personal or familial history of breast cancer.
  • Exact Sciences will also host a discussion about the Oncotype DX Breast Recurrence Score test and the RSClin® Tool.

Ancestry® Launches Know Your Pet DNA

Retrieved on: 
Wednesday, September 13, 2023
DNA, University, Genetics, ASPCA, Applied Biosystems, Research, Thermo Fisher Scientific, Epistasis, Affection, Organization, Knowledge, Massey University, Love, Dog, Pet, Cheek, Family, Vaccine, LEHI, Ancestor

LEHI, Utah, Sept. 13, 2023 /PRNewswire/ -- Ancestry®, the global leader in consumer DNA testing and family history, today unveiled Know Your Pet DNA and its first product offering—a dog DNA test. In the US alone, nearly 70% of American households have a pet, and over 50% consider their pet part of the family. Know Your Pet DNA leverages the DNA science and technology expertise from Ancestry to offer dog owners a greater understanding of their pets so that they can provide optimal care. Features include:

Key Points: 
  • LEHI, Utah, Sept. 13, 2023 /PRNewswire/ -- Ancestry®, the global leader in consumer DNA testing and family history, today unveiled Know Your Pet DNA and its first product offering—a dog DNA test.
  • Know Your Pet DNA leverages the DNA science and technology expertise from Ancestry to offer dog owners a greater understanding of their pets so that they can provide optimal care.
  • The Know Your Pet DNA test is the most scientifically advanced dog DNA test on the market.
  • After purchasing a DNA kit, taking the Know Your Pet DNA test is easy with three simple steps:
    Gently swab the inside of your dog's cheek for 30 seconds.

SparingVision Reports Positive Initial Safety Data from the first cohort treated in its PRODYGY Phase I/II Gene Therapy Trial

Retrieved on: 
Wednesday, August 30, 2023
Retina, PDE6B, Moran Eye Center, University, DSMB, AMD, Safety, Retinitis pigmentosa, Hope, Mutation, Research, Paratriathlon, Epistasis, Genomics, AAV, RP, PDE6A, Toys "R" Us, Inc. v. Step Two, S.A, Data monitoring committee, Children's National Hospital, University of Pittsburgh Medical Center, Oxidative stress, Patient, Ophthalmology, RCD, Cone, UPMC, RHO, Phase, Disease, Pharmaceutical industry

SPVN06 is a breakthrough gene therapy approach aimed at stopping or slowing disease progression in patients affected by rod-cone dystrophy, (RCD), regardless of their genetic background.

Key Points: 
  • SPVN06 is a breakthrough gene therapy approach aimed at stopping or slowing disease progression in patients affected by rod-cone dystrophy, (RCD), regardless of their genetic background.
  • Safety data collected on the first three patients (cohort 1) treated with a low dose showed that SPVN06 has been well tolerated with a favorable safety profile.
  • Following review of the data, the Data Safety Monitoring Board (DSMB) concluded that it is safe to initiate the second cohort at a medium dose.
  • We are eagerly awaiting the results of this Phase I/II trial and the potential for this therapy to slow or stop the progression of RP."

Scientists from the Public Health Agency of Canada make a major breakthrough on HIV genetic research

Retrieved on: 
Wednesday, August 2, 2023
Nature, MB, HIV, Genetics, Action plan, Public Health Agency of Canada, Research, Epistasis, National Microbiology Laboratory, CHD1L, NML, Indigenous self-government in Canada, Viral load, EPFL, Public Health Agency, Imperial College London, Vaccine, Pharmaceutical industry

WINNIPEG, MB, Aug. 2, 2023 /CNW/ - HIV is a significant public health concern in Canada and around the world.

Key Points: 
  • WINNIPEG, MB, Aug. 2, 2023 /CNW/ - HIV is a significant public health concern in Canada and around the world.
  • The Government of Canada is committed to conducting and supporting research and other efforts to support the global goal of ending sexually transmitted and bloodborne infections (STBBI), including HIV, as a public health concern by 2030.
  • This is the first new genetic variant discovered in nearly 30 years of HIV research.
  • It is a major breakthrough in our understanding of the virus and may lead to new HIV treatment and prevention strategies.

bit.bio Launches Two New Human Cell Disease Models to Advance Discovery and Development of Treatments for Duchenne Muscular Dystrophy (DMD)

Retrieved on: 
Wednesday, July 12, 2023
Biotechnology, Pharmaceutical, Health, Male, Dystrophin, Partnership, Duchenne muscular dystrophy, Research, Epistasis, Cell, RNA, Life expectancy, Duchenne, Doctor of Philosophy, Muscle weakness, Protein, DMD, Patient, Drug discovery, Biology, ASO, Disease, Discovery science, Vaccine, Dentistry, Pharmaceutical industry

bit.bio, the company coding human cells for novel cures, today launches its first set of muscle cell disease model products designed to advance the discovery and development of treatments for Duchenne muscular dystrophy (DMD).

Key Points: 
  • bit.bio, the company coding human cells for novel cures, today launches its first set of muscle cell disease model products designed to advance the discovery and development of treatments for Duchenne muscular dystrophy (DMD).
  • bit.bio’s ioSkeletal Myocytes DMD disease models support the development of new treatments for DMD patients.
  • bit.bio’s ioSkeletal Myocytes DMD disease models address these challenges by providing a consistent and scalable source of human cells.
  • Marijn Vlaming, PhD, Head of Discovery Sciences at Charles River said:
    “The ioSkeletal Myocytes DMD disease models are an important step towards the development of new treatments for DMD.

bit.bio Launches New Custom Disease Model Cells Offering, Advancing Disease Research and Drug Discovery

Retrieved on: 
Tuesday, May 23, 2023
Research, Finance, Genetics, Professional Services, Stem Cells, Biotechnology, Health, Pharmaceutical, Science, Charles River Laboratories, CRISPR, Duchenne muscular dystrophy, IPSC, Mutation, Epistasis, Cell, Duchenne, Neuron, Patient, Frontotemporal dementia, Drug discovery, Biology, ALS, Disease, Vaccine

As disease model cells come from an identical human genetic background to ioWild Type cells, any experimental differences observed between the wild type and the disease model can be confidently attributed to the effects caused by the disease-specific mutations.

Key Points: 
  • As disease model cells come from an identical human genetic background to ioWild Type cells, any experimental differences observed between the wild type and the disease model can be confidently attributed to the effects caused by the disease-specific mutations.
  • These key features make the models ideally suited to screening applications for early drug discovery as well as for fundamental research.
  • Our custom disease cell model offering aligns with bit.bio's mission to democratise access to human cells for research and drug discovery.”
    bit.bio has partnered with leading contract research organisation Charles River Laboratories to provide disease models in their early drug discovery programmes.
  • “Human cells are key to disease research, drug discovery, and clinical translation.