Human genetics

Alkeus Pharmaceuticals Announces Positive Interim Results Demonstrating No Signs of Disease Progression in Early-Stage Stargardt Disease Patients Treated with Gildeuretinol

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Mercoledì, Maggio 8, 2024
UCLA, Stargardt disease, Stargardt, Research, Paratriathlon, Genetics, Retina, Patient, Human genetics, The central science, ABCA4, Clinical trial, Annual general meeting, ARVO, Vitamin A, Pharmaceutical industry

CAMBRIDGE, Mass., May 08, 2024 (GLOBE NEWSWIRE) -- Alkeus Pharmaceuticals, Inc. today announced the presentation of positive interim data from its TEASE-3 study demonstrating that early-stage Stargardt disease patients treated with gildeuretinol acetate showed no disease progression and remained asymptomatic for the duration of therapy ranging between two and six years.

Key Points: 
  • CAMBRIDGE, Mass., May 08, 2024 (GLOBE NEWSWIRE) -- Alkeus Pharmaceuticals, Inc. today announced the presentation of positive interim data from its TEASE-3 study demonstrating that early-stage Stargardt disease patients treated with gildeuretinol acetate showed no disease progression and remained asymptomatic for the duration of therapy ranging between two and six years.
  • Results were presented during the Association for Research in Vision and Ophthalmology (ARVO) 2024 Annual Meeting being held May 5-9 in Seattle.
  • “These exciting results demonstrate the potential of gildeuretinol acetate to prevent vision loss in early-stage Stargardt patients,” said Leonide Saad, Ph.D., President and CEO of Alkeus Pharmaceuticals.
  • All of us working in our growing Alkeus team are committed to advancing research and having an impact on patients living with vision loss.

Natera Launches Fetal RhD NIPT Supporting Ob/Gyn Physicians and Patients During RhIg Shortage

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Mercoledì, Maggio 1, 2024
Health, Consumer, Women, Genetics, Baby, Maternity, Clinical Trials, Biotechnology, Fetus, Nucleic acid thermodynamics, Gamma globulin, Episcopal conference, American College, NTRA, Laboratory, RHD (gene), Anemia, Risk, Pregnancy, Blood, Northwell Health, Quality, Genetic testing, Obstetrics, DNA, SNP, ACOG, ASHG, NIPT, Patient, Human genetics, Society, Physician, Antibody, Panorama, Dietary supplement

Natera, Inc. (NASDAQ: NTRA), a global leader in cell-free DNA (cfDNA) and genetic testing, today announced the launch of a new cfDNA-based fetal RhD test.

Key Points: 
  • Natera, Inc. (NASDAQ: NTRA), a global leader in cell-free DNA (cfDNA) and genetic testing, today announced the launch of a new cfDNA-based fetal RhD test.
  • This comes at a critical time for the healthcare industry, helping physicians navigate patient care given nationwide shortages of Rho(D) immune globulin therapy (RhIg).
  • Natera’s test can be performed as early as nine weeks gestation and determines fetal RhD status from the blood of a pregnant patient, including complex pseudogene and RhD-CE-D hybrid variants.
  • The vast majority of other NIPT laboratories do not offer fetal RhD assessment, which makes it a key differentiator in addition to Natera’s core SNP-based technology.

Genomics plc and GSK establish precision medicine collaboration to assess polygenic risk scores in clinical trial design

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Martedì, Aprile 30, 2024
Genetics, FRS, PRS, Algorithm, Drug development, Drug discovery, GSK, Patient, Human genetics, Pharmaceutical industry

OXFORD, England, April 30, 2024 /PRNewswire/ -- Genomics plc and GSK announced a new collaboration to explore the potential for using polygenic risk scores (PRS) in clinical trials, to improve understanding of disease risk and patient selection, which could support optimisation of trial design. Genomics plc is a global leader in PRS-powered technologies and approaches and has developed extensive genetic databases and algorithms to understand the genetic component of diseases.

Key Points: 
  • OXFORD, England, April 30, 2024 /PRNewswire/ -- Genomics plc and GSK announced a new collaboration to explore the potential for using polygenic risk scores (PRS) in clinical trials, to improve understanding of disease risk and patient selection, which could support optimisation of trial design.
  • Genomics plc is a global leader in PRS-powered technologies and approaches and has developed extensive genetic databases and algorithms to understand the genetic component of diseases.
  • Robert Scott, Vice President of Human Genetics and Genomics at GSK: "Genomics plc is leading in both the development and real-world application of PRS-based approaches, opening up new frontiers in genomic medicine.
  • At GSK, we have demonstrated the opportunity for genetics to guide drug discovery and development; I look forward to working with Genomics plc to further explore the potential for PRS to support clinical trial design."

Seamless Therapeutics Announces New CEO and Board Chairman to Support US Expansion of Programmable Recombinase Gene Editing Technology Platform

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Martedì, Aprile 23, 2024
Science, Other Science, Biotechnology, Research, Pharmaceutical, General Health, Health, Genetics, Wellington Partners, Enzyme, University, Disorder, Gene editing, Seamless, Entrepreneurship, Disease, DNA, Therapy, Patient, Human genetics, Acquisition, Independent, Genome, Growth, Head, Pharmaceutical industry

Both bring longstanding track records of successfully leading trailblazing biotechnology companies with an emphasis on gene editing and novel technologies.

Key Points: 
  • Both bring longstanding track records of successfully leading trailblazing biotechnology companies with an emphasis on gene editing and novel technologies.
  • In addition, their combined experience will be instrumental in establishing Seamless Therapeutics’ Research and Development (R&D) activities in the US.
  • Early in vivo preclinical evidence has shown that Seamless’ programmable recombinases can precisely edit a 138 kilobase fragment through inversion.
  • “Seamless Therapeutics is at the forefront of the next wave of innovation in gene editing with its unique platform and comprehensive toolbox capable of programming recombinases.

QIAGEN strengthens its portfolio for cancer research, showcasing latest product launches at AACR Annual Meeting 2024

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Mercoledì, Aprile 3, 2024
EGFR, Gene, Nested polymerase chain reaction, Professor, Cancer Institute, Circulating free DNA, Neoplasm, TCR, Research institute, QGEN, Research, PCR, Central business district, NGS, DNA, BRAF, Diagnosis, WIA, Cancer, Immune system, Liquid biopsy, UMI, Mutation, Genetics, Human genetics, Senior, AACR, Medical school, QIAGEN, Poster, Environment, IVD, Urine

Two Exhibitor Spotlight Theater sessions and several poster presentations will highlight additional advances from QIAGEN in this field.

Key Points: 
  • Two Exhibitor Spotlight Theater sessions and several poster presentations will highlight additional advances from QIAGEN in this field.
  • EGFR and BRAF are genes essential for normal cell growth and function, but mutations in these genes can result in cancer development.
  • To advance research on how the immune system interacts with cancer, QIAGEN has introduced the QIAseq Targeted RNA-seq Panel for T-cell receptors.
  • Learn more about QIAGEN’s offering at the AACR Annual Meeting 2024, (booth #922 in the San Diego Convention Center) and poster presentations highlighting new solutions in digital PCR, NGS and preanalytical workflows at https://www.qiagen.com/applications/cancer-research/aacr-2024-annual-mee... .

Allelica to provide multi-ancestry polygenic risk score to Baylor College of Medicine for clinical implementation

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Martedì, Marzo 19, 2024
WGS, Health informatics, Informatics, Coronary artery disease, Associate, Patient, PRS, ASHG, Human genetics, Laboratory, Whole genome sequencing, Baylor College of Medicine, Society, Traction, BCM, Physician, Health

NEW YORK, March 19, 2024 /PRNewswire/ -- Allelica, market leader in clinical solutions for polygenic risk score analysis and reporting, has announced a strategic collaboration with leading health sciences institution, Baylor College of Medicine (BCM), to integrate clinical, multi-ancestry polygenic risk score (PRS) testing into BCM's extensive patient services portfolio.

Key Points: 
  • NEW YORK, March 19, 2024 /PRNewswire/ -- Allelica, market leader in clinical solutions for polygenic risk score analysis and reporting, has announced a strategic collaboration with leading health sciences institution, Baylor College of Medicine (BCM), to integrate clinical, multi-ancestry polygenic risk score (PRS) testing into BCM's extensive patient services portfolio.
  • This marks a significant milestone in making world class genomic medicine accessible, equitable, and impactful for patients across diverse communities.
  • Allelica's PRS solution enables more precise identification of patients' genetic risk for coronary artery disease and other diseases and traits.
  • Baylor is one of several institutions working with Allelica to provide clinical PRS testing to patients.

Acclaimed Clinical Geneticist Dr. Bruce Korf Honored with 2024 David L. Rimoin Lifetime Achievement Award in Medical Genetics from the ACMG Foundation for Genetic and Genomic Medicine

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Mercoledì, Marzo 13, 2024
Department of Defence, Friends, Patient, Medical genetics, Travel, Child, Neurofibromatosis, Practice, UAB, Gene expression, Dean (education), Education, Rockefeller University, Seed, NF, NIH, American College, Pediatrics, Person, Karyotype, MD–PhD, Boston Children's Hospital, Principle, Birmingham School of Law, Neurology, FACOG, Genetics, Cornell University, American Journal, Research, Hospital, University, Human genetics, Student, Publication, DRS, ACMG, Book, Genetic distance, DSM-IV codes, Diagnosis, FACMG, Empathy, Montefiore Medical Center, Distinguishing, Mouse, Hope, Doctor of Philosophy, Life, Genetic, Bangladesh Technical Education Board, Physician, Nursing

BETHESDA, Md., March 13, 2024 /PRNewswire/ -- Renowned clinical geneticist Bruce Korf, MD, PhD, FACMG, has been named the recipient of the 2024 ACMG Foundation for Genetic and Genomic Medicine's David L. Rimoin Lifetime Achievement Award in Medical Genetics.

Key Points: 
  • BETHESDA, Md., March 13, 2024 /PRNewswire/ -- Renowned clinical geneticist Bruce Korf, MD, PhD, FACMG, has been named the recipient of the 2024 ACMG Foundation for Genetic and Genomic Medicine's David L. Rimoin Lifetime Achievement Award in Medical Genetics.
  • Dr. Korf is an authentic, kind and ethical human being whose life and career in medical genetics are unparalleled."
  • "Dr. Korf's extraordinary accomplishments in clinical genetics, neurofibromatosis, and genomics, as well as his dedication to education make him a well deserving winner of the David Rimoin Lifetime Achievement Award.
  • Before he died, David appreciated the opportunity to work with Bruce first-hand in the editing of Principles and Practice of Medical Genetics as well as on numerous committees for the ACMG.

Feinstein Institutes Gets $3.1M NIH Grant to Further Understanding and Treatment of Psychiatric Illnesses Like ADHD, Schizophrenia, Autism

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Martedì, Febbraio 20, 2024
Mental Health, Health, Neurology, Genetics, Clinical Trials, Research, Science, Therapy, Bangladesh Technical Education Board, Doctor of Philosophy, Medicine, Multimedia, Ethics, NIH, Window, American Journal, Deficit spending, Medical research, Schizophrenia, Cell, Genomics, DSM-IV codes, PES, Biomarker, Cognitive genomics, Spectrum, Behavioural sciences, Memory, Disorder, Feinstein, ADHD, Human genetics, Credit, Pharmaceutical industry

To further the scientific understanding, causes, and treatment, researchers at The Feinstein Institutes for Medical Research have been awarded a $3.1 million grant from the National Institutes of Health (NIH).

Key Points: 
  • To further the scientific understanding, causes, and treatment, researchers at The Feinstein Institutes for Medical Research have been awarded a $3.1 million grant from the National Institutes of Health (NIH).
  • View the full release here: https://www.businesswire.com/news/home/20240220777633/en/
    The Feinstein Institutes’ Dr. Todd Lencz was awarded a new five-year NIH research grant.
  • “Studying cognitive abnormalities is crucial for understanding psychiatric disorders,” said Dr. Lencz.
  • In 2021, he was awarded a $2.9 million grant from the NIH to further study the accuracy – and the ethics – of PES.

Complete Genomics and seqWell Announce Codevelopment Partnership at AGBT

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Mercoledì, Febbraio 7, 2024
Partnership, Genomics, Product management, SAN, Marketing, Complete Genomics, Completeness, Human genetics, DNA, Mass meeting, Society, NGS, Genomic library, Synthetic biology, ASHG

SAN JOSE, Calif. and BEVERLY, Mass., Feb. 7, 2024 /PRNewswire/ -- Complete Genomics, a life sciences company specializing in end-to-end DNA sequencing solutions, and seqWell, a global provider of genomic library preparation workflow solutions, today announced a partnership aimed at expanding the range of library preparation product offerings available to Complete Genomics customers. The companies will work together to ensure seqWell-developed products are compatible with the entire Complete Genomics next-generation sequencing (NGS) and automation portfolios.

Key Points: 
  • The companies will work together to ensure seqWell-developed products are compatible with the entire Complete Genomics next-generation sequencing (NGS) and automation portfolios.
  • "Our partnership with seqWell enables us to offer a broader range of tools to support a broader range of customer needs."
  • Leveraging the power of the Complete Genomics DNBSEQ-G400RS * and seqWell purePlex ™ DNA Library Prep Kit , this partnership will allow customers to the ability to run cost-effective and scalable workflows pairing seqWell library prep kits with Complete Genomics' portfolio of DNBSEQ technologies.
  • The latest outcome of this partnership enables customers to pair seqWell's ExpressPlex ™ library prep kits with Complete Genomics' portfolio of DNBSEQ technologies, including the DNBSEQ-G-99 RS* and DNBSEQ-T7 RS* sequencers.

Allosteric Bioscience, Inc. Signs Sponsored Research Agreement with Dr. Susan Michaelis at Johns Hopkins University for Aging/Longevity-Related Work

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Mercoledì, Gennaio 17, 2024
Research, Technology, Health Technology, Other Health, Biotechnology, General Health, Pharmaceutical, Health, Science, Artificial Intelligence, ABI, Syndrome, Human genetics, Progeria, School, Systems biology, Johns Hopkins University, Cell biology, Molecular biology, SRA, Quantum computing, Genetics, Medical school, Normal, Ageing, Communication, Mutation, Disease, Progerin, Protein, Cell, Pharmaceutical industry

Allosteric Bioscience, Inc. (ABI) has signed a Sponsored Research Agreement (SRA) with Dr. Susan Michaelis at Johns Hopkins University for analysis of chemical leads for modulation (increase or decrease) of key protein targets for Optimizing Aging and Longevity.

Key Points: 
  • Allosteric Bioscience, Inc. (ABI) has signed a Sponsored Research Agreement (SRA) with Dr. Susan Michaelis at Johns Hopkins University for analysis of chemical leads for modulation (increase or decrease) of key protein targets for Optimizing Aging and Longevity.
  • At Johns Hopkins University Dr. Susan Michaelis will manage the analysis.
  • Dr. Michaelis is a leader in aging research and is a Professor in Cell Biology at Johns Hopkins University, School of Medicine.
  • Participation by Dr. Susan Michaelis in the SRA does not constitute or imply endorsement of Allosteric Bioscience, Inc. (Company) by Johns Hopkins University.