Haploinsufficiency

Jaya Biosciences Presents New Paradigm for the Treatment of Alzheimer’s Disease at the 23ʳᵈ Annual Needham Virtual Healthcare Conference

Retrieved on: 
Tuesday, April 9, 2024
SAN, PPT1, Conference, Haploinsufficiency, Pharmaceutical industry

SOUTH SAN FRANCISCO, Calif., April 09, 2024 (GLOBE NEWSWIRE) -- Jaya Biosciences, Inc. (“JayaBio” or “the Company”), a privately held early-stage life-sciences company developing gene therapies to address unmet needs in genetically defined neurodegeneration, presented promising non-clinical data for a novel treatment approach in Alzheimer’s disease at the 23rd Annual Needham Virtual Healthcare Conference.

Key Points: 
  • SOUTH SAN FRANCISCO, Calif., April 09, 2024 (GLOBE NEWSWIRE) -- Jaya Biosciences, Inc. (“JayaBio” or “the Company”), a privately held early-stage life-sciences company developing gene therapies to address unmet needs in genetically defined neurodegeneration, presented promising non-clinical data for a novel treatment approach in Alzheimer’s disease at the 23rd Annual Needham Virtual Healthcare Conference.
  • JayaBio’s President and CEO, Pawel Krysiak, reviewed the rationale for targeting the autophagy-lysosomal pathway and discussed the Company’s lead program, JB111, including its strong animal proof-of-concept data and near-term development milestones.
  • “We are grateful for the opportunity to share a new paradigm for the treatment of genetically defined neurodegeneration with the investor community at the 23rd Annual Needham Virtual Healthcare Conference,” said Pawel Krysiak, President and CEO of JayaBio.
  • Given the size of the unmet need and the strong potential of our platform, we hope to attract experienced investors to support JayaBio’s progress and help us develop life-changing therapies for genetically defined neurodegeneration, including Alzheimer’s disease.”
    The following talk was presented at the 23rd Annual Needham Virtual Healthcare Conference:

Pharming Group reports fourth quarter and full year 2023 financial results

Retrieved on: 
Thursday, March 14, 2024
Patient, Health care, Epidemiology, Executive Committee, Laboratory, Microsoft Access, Lymphocyte, Clinical trial, European Commission, APDS, MHLW, AEG, Welfare, Ageing, Committee, EMA, Trial of the century, PID, CTLA4, Safety, Pharmacokinetics, Ministry, CHMP, ODD, U.S. FDA, Prevalence, PTEN, Disease, HAE, Immunodeficiency, VUS, Literature, PIK3R1, PMDA, FDA, DSM-IV codes, Diagnosis, Civil service commission, IRP, Haploinsufficiency, Genetic testing, MAA, Autoimmunity, World Games, Iberian languages, Marketing, MHRA, Euronext Amsterdam, PIK3CD, Physician, Pharmaceutical industry

The U.S. market contributed 97% of 2023 revenues, while the EU and Rest of World contributed 3%.

Key Points: 
  • The U.S. market contributed 97% of 2023 revenues, while the EU and Rest of World contributed 3%.
  • Revenues increased to US$7.9 million in the fourth quarter of 2023, driven by the continued increase in patients on paid therapy, and revenues were US$18.2 million for 2023.
  • Pharming made continued progress in the fourth quarter of 2023 on leniolisib regulatory filings for APDS patients 12 years of age and older in key global markets.
  • Pharming filed regulatory submissions in Canada and Australia in the third quarter of 2023, and Israel in the second quarter.

BioInnovation Institute welcomes innovative smartRNA project to Bio Studio program

Retrieved on: 
Thursday, March 14, 2024
Lykke, Epilepsy, EUR, KU Leuven, European Molecular Biology Laboratory, Haploinsufficiency, Genetics, Patient, Research, RNA, University of Washington, University, Messenger, Cancer, Laboratory, BII, Imperial College London, Student, EMBL, Monogenic, Aarhus University, University of Copenhagen, Intellectual property, Therapy, Molecular biology, DSM-IV codes, Disorder, Vaccine

Thus, the aim of the smartRNA project in BII's Bio Studio program is to leverage this proprietary technology to develop treatments for currently untreatable disorders caused by haploinsufficiency or other monogenic diseases caused by reduced protein activity.

Key Points: 
  • Thus, the aim of the smartRNA project in BII's Bio Studio program is to leverage this proprietary technology to develop treatments for currently untreatable disorders caused by haploinsufficiency or other monogenic diseases caused by reduced protein activity.
  • During the 3-year BII Bio Studio program, the objective of smartRNA is to deliver an in vitro proof-of-concept, a pseudo in vivo proof-of-principle, and in vitro benchmarking against established technologies.
  • Anja Mølhart Høg, Entrepreneur-in-Residence heading up the smartRNA project, added: "We are excited to welcome the smartRNA project to BII's Bio Studio program.
  • The Bio Studio program is a recently established BII program with the ambition to build and run a leading life science company creation facility in Europe.

BioInnovation Institute welcomes innovative smartRNA project to Bio Studio program

Retrieved on: 
Thursday, March 14, 2024
Lykke, Epilepsy, EUR, KU Leuven, European Molecular Biology Laboratory, Haploinsufficiency, Genetics, Patient, Research, RNA, University of Washington, University, Messenger, Cancer, Laboratory, BII, Imperial College London, Student, EMBL, Monogenic, Aarhus University, University of Copenhagen, Intellectual property, Therapy, Molecular biology, DSM-IV codes, Disorder, Vaccine

Thus, the aim of the smartRNA project in BII's Bio Studio program is to leverage this proprietary technology to develop treatments for currently untreatable disorders caused by haploinsufficiency or other monogenic diseases caused by reduced protein activity.

Key Points: 
  • Thus, the aim of the smartRNA project in BII's Bio Studio program is to leverage this proprietary technology to develop treatments for currently untreatable disorders caused by haploinsufficiency or other monogenic diseases caused by reduced protein activity.
  • During the 3-year BII Bio Studio program, the objective of smartRNA is to deliver an in vitro proof-of-concept, a pseudo in vivo proof-of-principle, and in vitro benchmarking against established technologies.
  • Anja Mølhart Høg, Entrepreneur-in-Residence heading up the smartRNA project, added: "We are excited to welcome the smartRNA project to BII's Bio Studio program.
  • The Bio Studio program is a recently established BII program with the ambition to build and run a leading life science company creation facility in Europe.

Jaya Biosciences Presents Promising Preclinical Data in Alzheimer’s Disease at the 20th Annual WORLDSymposium™ 2024

Retrieved on: 
Monday, February 12, 2024
SAN, Toxicology, Research, APP, Plaque, PPT1, Life, Haploinsufficiency, Science Advisory Board, CNS, GUSB, Patient, GALC, Gene, IDUA, Q&A, NAGLU, IND, AAV

SOUTH SAN FRANCISCO, Calif., Feb. 12, 2024 (GLOBE NEWSWIRE) -- Jaya Biosciences, Inc. (“JayaBio” or “the Company”), a privately held early-stage life-sciences company developing CNS-directed gene therapies to address unmet needs in genetically defined neurodegeneration, reported non-clinical data at the 20th Annual WORLDSymposium™, a leading research conference on lysosomal diseases. During a late-breaking news platform presentation, Jaya Biosciences’ scientific founder, Prof. Mark Sands, reported preliminary human genetic analysis suggesting that heterozygous loss-of-function mutations in lysosomal enzyme genes are enriched in Alzheimer’s patients, as well as preclinical efficacy results in the animal model of Alzheimer’s disease (AD) for JB111, the Company’s lead therapy.

Key Points: 
  • “We are thrilled to showcase a new paradigm for the treatment of genetically defined neurodegeneration at the 20th WORLDSymposium™,” said Pawel Krysiak, President and CEO of JayaBio.
  • “The preclinical data we presented demonstrate a tremendous promise of targeting PPT1 haploinsufficiency in Alzheimer’s disease.
  • Heterozygosity of five different lysosomal enzyme genes (PPT1, NAGLU, GALC, IDUA, GUSB) significantly affects amyloid precursor protein (APP) processing and favors pro-amyloidogenic pathway.
  • CNS-directed, AAV-mediated gene therapy significantly increases the life span and improves cognitive function of 5xFAD/PPT1+/- mice.

Jaguar Gene Therapy Announces FDA Clearance of IND to Study JAG201 in a Genetic Form of Autism Spectrum Disorder and Phelan-McDermid Syndrome

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Wednesday, January 31, 2024
FDA, Other Health, Pharmaceutical, Managed Care, General Health, Biometrics, Mental Health, Infectious Diseases, Neurology, Genetics, Clinical Trials, Biotechnology, Science, Other Science, Research, Health, Parent, Synapse, Neuroscience, NHP, Mutation, Spectrum, Genetic disorder, Quality of life, Learning, PMSF, Memory, ASD, PMS, ICV, Investigational New Drug, Cognitive science, Broad, Prevalence, IND, Jaguar, Genetic testing, Frasier, SHANK3, ID, Spinal cord, Haploinsufficiency, DSM-IV codes, Gene therapy, Patient, Central nervous system, Harvard University, Speech, Food, Neuron, Disease, Communication, Risk, Sibling, Disorder, Psychiatry, 22q13 deletion syndrome, Intellectual disability, Broad Institute, MIT, Pediatrics, Pharmaceutical industry

Jaguar Gene Therapy, a biotechnology company accelerating breakthroughs in gene therapy for patients suffering from severe genetic diseases, including those that affect sizeable patient populations, today announced the U.S. Food and Drug Administration (FDA) has cleared the company’s Investigational New Drug (IND) Application for JAG201, a gene therapy for a genetic form of autism spectrum disorder (ASD) and Phelan-McDermid syndrome (PMS).

Key Points: 
  • Jaguar Gene Therapy, a biotechnology company accelerating breakthroughs in gene therapy for patients suffering from severe genetic diseases, including those that affect sizeable patient populations, today announced the U.S. Food and Drug Administration (FDA) has cleared the company’s Investigational New Drug (IND) Application for JAG201, a gene therapy for a genetic form of autism spectrum disorder (ASD) and Phelan-McDermid syndrome (PMS).
  • JAG201 aims to deliver functional SHANK3 via the AAV9 vector to treat the root cause of the disease.
  • “We are pleased to receive FDA clearance to bring our investigational SHANK3 gene therapy to the clinic.
  • The pre-clinical data indicate that JAG201 may have the potential to be transformative for those suffering with the disorder,” said Joe Nolan, chief executive officer of Jaguar Gene Therapy.

Stoke Therapeutics Receives Authorization to Initiate a Phase 1/2 Study of STK-002 for Autosomal Dominant Optic Atrophy (ADOA) in the United Kingdom

Retrieved on: 
Tuesday, April 25, 2023
Research, FDA, Genetics, Clinical Trials, Biotechnology, Health, Pharmaceutical, Optical, Science, Central nervous system, Life, Serum, DSM-IV codes, FALCON, Health care, Eye, Quality of life, CTA, TANGO, Trial of the century, IVT, Haploinsufficiency, Patient, ADOA, OPA1, ASO, Diagnosis, Stoke, Paratriathlon, Therapy, Safety, MHRA, Disease, Pharmaceutical industry, Vaccine

ADOA is a rare disease that causes progressive and irreversible vision loss in both eyes starting in the first decade of life.

Key Points: 
  • ADOA is a rare disease that causes progressive and irreversible vision loss in both eyes starting in the first decade of life.
  • STK-002 is a proprietary antisense oligonucleotide (ASO) being developed by Stoke as the first potential disease-modifying therapy to address the genetic cause of ADOA.
  • STK-002 is designed to restore OPA1 protein expression by upregulating protein production from the non-mutant (wild-type) copy of the OPA1 gene.
  • By doing this, the company hopes to slow or even stop vision loss in patients with ADOA.

Stoke Therapeutics Reports Third Quarter Financial Results and Provides Business Updates

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Monday, November 14, 2022
Biotechnology, Health, Genetics, Pharmaceutical, Clinical Trials, Even and odd functions, Brain, Epilepsy, Sleep, Autonomic nervous system, Safety, Fenfluramine, Disease, Risk, License, Cognition, Plasma, SCN1A, Targeted molecular therapy for neuroblastoma, Dravet syndrome, OLE, Death, Research, Government budget balance, Regulation of food and dietary supplements by the U.S. Food and Drug Administration, Seizure, CSF, Diagnosis, TANGO, EMA, Patient, FDA, Language, United Kingdom, Intellectual disability, Prognosis, Therapy, Caregiver, Quality of life, Pharmacokinetics, Collaboration, ID, Asos, Protein, RNA, Food, American Epilepsy Society, Cerebrospinal fluid, ASO, Medicine, Haploinsufficiency, SUDEP, Movement, Pharmaceutical industry, Medical imaging, Coffee, Reinsurance, Animal, Vaccine, Stoke

MONARCH and ADMIRAL are multi-center, Phase 1/2a studies of children and adolescents who have an established diagnosis of Dravet syndrome.

Key Points: 
  • MONARCH and ADMIRAL are multi-center, Phase 1/2a studies of children and adolescents who have an established diagnosis of Dravet syndrome.
  • Today, the Company provided topline results from the ongoing Phase 1/2a MONARCH and ADMIRAL studies of STK-001.
  • Stoke Therapeutics (Nasdaq: STOK), is a biotechnology company dedicated to addressing the underlying cause of severe diseases by upregulating protein expression with RNA-based medicines.
  • Using Stokes proprietary TANGO (Targeted Augmentation of Nuclear Gene Output) approach, Stoke is developing antisense oligonucleotides (ASOs) to selectively restore protein levels.

Stoke Therapeutics to Host Webinar and Conference Call to Present Interim Data from the Phase 1/2a Studies of STK-001 in Children and Adolescents with Dravet Syndrome

Retrieved on: 
Thursday, November 10, 2022
Biotechnology, Health, Genetics, Pharmaceutical, Clinical Trials, Investor, ADOA, TANGO, Nasdaq, Eye, Tissue, Therapy, Stoke, ID, Therapeutic Targets Database, Disease, Asos, Haploinsufficiency, Central nervous system, Dravet syndrome, Pharmaceutical industry

To participate in the call, please dial (800) 715-9871, or (646) 307-1963 for international callers and provide conference call ID number 2168761.

Key Points: 
  • To participate in the call, please dial (800) 715-9871, or (646) 307-1963 for international callers and provide conference call ID number 2168761.
  • The webinar will be broadcast live on the Investors & News section of Stokes website at https://investor.stoketherapeutics.com/ , and can be accessed by following this Link .
  • An archive replay of the webinar will be available for at least 90 days following the event.
  • Stokes first compound, STK-001, is in clinical testing for the treatment of Dravet syndrome, a severe and progressive genetic epilepsy.

Renovacor Announces Upcoming Presentation at Keystone Symposia’s Heart Failure: Mechanisms and Therapies Conference

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Monday, September 26, 2022
Science, Cardiology, Biotechnology, Research, Pharmaceutical, Health, Genetics, Clinical Trials, Keystone, U.S. Securities and Exchange Commission, CO, Securities & Exchange Commission of Pakistan, COVID-19, NYSE, FDA, IND, Company, Poster, Intellectual property, DCM, Heart failure, Forward-looking statement, Patient, Quality of life, MST, Private Securities Litigation Reform Act, Heart, BAG3, Conference, RCOR, Mortality, Haploinsufficiency, Disease, Pharmaceutical industry

The conference is taking place from September 28 October 1, 2022, at the Beaver Run Resort in Breckenridge, CO.

Key Points: 
  • The conference is taking place from September 28 October 1, 2022, at the Beaver Run Resort in Breckenridge, CO.
  • The posters presenting author is Valerie Myers, Ph.D., Senior Director of Preclinical Science at Renovacor.
  • Renovacor is a biotechnology company focused on delivering innovative precision therapies to improve the lives of patients and families battling genetically-driven cardiovascular and mechanistically-related diseases.
  • The companys lead program in BAG3-associated dilated cardiomyopathy (DCM) uses gene transfer technology to address the monogenic cause of this severe form of heart failure.