Medical genetics

Atsena Therapeutics Announces First Patient Dosed in Phase I/II Clinical Trial of ATSN-201 for the Treatment of X-linked Retinoschisis

Retrieved on: 
Monday, August 28, 2023
Retinoschisis, Medical school, Male, Oregon Health & Science University, RS1, Retina, Paratriathlon, Gene expression, AAV, Doctor of Philosophy, Oregon Health and Science University Center for Women's Health, MD, Patient, OHSU, School, Northwestern Health Sciences University, Medical genetics, Therapy, News, Safety, Pharmaceutical industry, Ophthalmology

DURHAM, N.C., Aug. 28, 2023 (GLOBE NEWSWIRE) -- Atsena Therapeutics, a clinical-stage gene therapy company focused on bringing the life-changing power of genetic medicine to reverse or prevent blindness, today announced the first patient has been dosed in its Phase I/II clinical trial, the LIGHTHOUSE study, evaluating subretinal injection of ATSN-201 for the treatment of X-linked retinoschisis (XLRS). ATSN-201 leverages AAV.SPR, the company’s novel spreading capsid, to achieve therapeutic levels of gene expression in photoreceptors of the central retina while avoiding the surgical risks of foveal detachment.

Key Points: 
  • ATSN-201 leverages AAV.SPR, the company’s novel spreading capsid, to achieve therapeutic levels of gene expression in photoreceptors of the central retina while avoiding the surgical risks of foveal detachment.
  • “Dosing the first patient in the LIGHTHOUSE study marks a significant milestone for Atsena and the XLRS community,” said Kenji Fujita, MD, Chief Medical Officer of Atsena Therapeutics.
  • “We are excited to be utilizing AAV.SPR in the clinic, as it has the potential to revolutionize the treatment of XLRS, as well as other inherited retinal disorders.
  • Spreading laterally beyond the subretinal injection site, AAV.SPR facilitates the safe delivery of RS1 to photoreceptors in the central retina/fovea.

GeneDx Announces Data Demonstrating that Whole Exome and Genome Sequencing Report Fewer Variants of Uncertain Significance (VUS) than Multi-Gene Panel Testing Published in Genetics in Medicine

Retrieved on: 
Monday, August 21, 2023
ASHG, GeneDx, American Epilepsy Society, Genetics in Medicine, Birth, American Society of Human Genetics, Exome, Intellectual disability, Human genetics, Genetics, American College of Medical Genetics and Genomics, VUS, Laboratory, Diagnosis, AES, Medical genetics, American College, Massachusetts General Hospital, Gene, NSGC, Society, ACMG, National Society, Antibiotics, Vaccine, Medical device, Genomics, Pathology, Medicine

The study, “ The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change ,” evaluated the rate of inconclusive genetic variants, or variants of uncertain significance (VUS), reported with multi-gene panels versus exome and genome sequencing.

Key Points: 
  • The study, “ The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change ,” evaluated the rate of inconclusive genetic variants, or variants of uncertain significance (VUS), reported with multi-gene panels versus exome and genome sequencing.
  • Study findings concluded that VUS are reported more frequently on multi-gene panels (32.6%) than exome and genome sequencing (22.5%).
  • Exome and genome sequencing tests demonstrated lower rates of reported VUS compared to multi-gene panel tests.
  • Importantly, the study found:
    Data from this study was previously presented at the American Society of Human Genetics (ASHG) 2022 Annual meeting.

Homology Medicines Reports Second Quarter 2023 Financial Results and Recent Highlights

Retrieved on: 
Monday, August 14, 2023
Phenylketonuria, Gene editing, PKU, Plasma, Medical genetics, Data monitoring committee, Pipeline, Beckman Center for Molecular and Genetic Medicine, ACMG, Pharmaceutical industry, Genomics

BEDFORD, Mass., Aug. 14, 2023 (GLOBE NEWSWIRE) -- Homology Medicines, Inc. (Nasdaq: FIXX), a genetic medicines company, announced today second quarter 2023 financial results and highlighted recent updates.

Key Points: 
  • - Evaluating Strategic Options for the Company and Pipeline of Genetic Medicines, including HMI-103 -
    BEDFORD, Mass., Aug. 14, 2023 (GLOBE NEWSWIRE) -- Homology Medicines, Inc. (Nasdaq: FIXX), a genetic medicines company, announced today second quarter 2023 financial results and highlighted recent updates.
  • Also previously announced that Homology will be evaluating strategic options for the Company and its genetic medicines programs, including HMI-103.
  • Research and development expenses for the quarter ended June 30, 2023 were $23.0 million, compared to $21.1 million for the quarter ended June 30, 2022.
  • General and administrative expenses for the quarter ended June 30, 2023 were $8.2 million, compared to $8.0 million for the quarter ended June 30, 2022.

ImmunoBrain Checkpoint Announces Expansion of Board of Directors with Appointment of James M. Mackay, Ph.D.

Retrieved on: 
Tuesday, August 15, 2023
IBC, BS, Therapy, Neurodegenerative disease, Biotechnology, Aristea, AstraZeneca, Acquisition, Knowledge, Growth, Autoimmunity, Medical genetics, University of Aberdeen, Inflammation, Pharmaceutical industry, Genetics

NEW YORK, Aug. 15, 2023 /PRNewswire/ -- ImmunoBrain Checkpoint Inc. (IBC), a clinical stage biopharmaceutical company developing innovative disease-modifying immune therapies to combat neurodegenerative diseases, today announced the appointment of James M. Mackay, Ph.D., to the Board of Directors.

Key Points: 
  • NEW YORK, Aug. 15, 2023 /PRNewswire/ -- ImmunoBrain Checkpoint Inc. (IBC), a clinical stage biopharmaceutical company developing innovative disease-modifying immune therapies to combat neurodegenerative diseases, today announced the appointment of James M. Mackay, Ph.D., to the Board of Directors.
  • Mackay brings decades of biopharma leadership experience to the Company's Board of Directors as it advances its lead asset, IBC-Ab002, through clinical trials.
  • "Dr. Mackay's intimate knowledge of global development and commercialization will be critical for the growth and expansion of ImmunoBrain Checkpoint as we continue to build our global footprint in clinical trials of IBC-Ab002," commented Nathan Hevrony, Co-founder and Executive Chairman of ImmunoBrain Checkpoint.
  • Dr. Mackay earned his BS in Genetics and Ph.D. in Medical Genetics from Aberdeen University, Scotland.

Jnana Therapeutics Announces Dosing of First Participant in Phase 1b Clinical Trial of JNT-517 in Individuals with PKU

Retrieved on: 
Wednesday, August 9, 2023
Partnership, Society, Senior, Phenylketonuria, Tolerability, Quality of life, Pharmacokinetics, Jñāna, CMO, PKU, Phenylalanine, Plasma, Oregon Health & Science University, Oregon Health & Science University School of Dentistry, Ageing, Medical genetics, Health, Therapy, Treatment, Safety, Pharmaceutical industry, Metabolism, SLC6A19

BOSTON, Aug. 09, 2023 (GLOBE NEWSWIRE) -- Jnana Therapeutics, a clinical-stage biotechnology company leveraging its next-generation chemoproteomics platform to discover medicines for challenging-to-drug targets, today announced that the first participant has been dosed in its Phase 1b clinical trial of JNT-517 in individuals with phenylketonuria (PKU). JNT-517 is a small molecule inhibitor of the phenylalanine (Phe) transporter SLC6A19 and is in development as a potential first-in-class oral treatment for PKU.

Key Points: 
  • JNT-517 is a small molecule inhibitor of the phenylalanine (Phe) transporter SLC6A19 and is in development as a potential first-in-class oral treatment for PKU.
  • "Dosing the first individual with PKU with JNT-517 is an important next step toward potentially improving the quality of life and health for people living with PKU,” said George Vratsanos, M.D., CMO and Head of R&D for Jnana Therapeutics.
  • “I’m thrilled to have joined Jnana at this critical point in the PKU program’s progression.”
    The Phase 1b study is a randomized, double-blind, placebo-controlled trial evaluating the safety, tolerability, pharmacokinetics, and effect on plasma and urinary Phe of JNT-517 over a four-week period in individuals with PKU.
  • The study expects to enroll 28 participants aged 18 to 65 diagnosed with PKU at clinical sites in the United States and Australia.

CENTOGENE to Participate in Upcoming Conferences in August

Retrieved on: 
Monday, August 7, 2023
Diagnosis, Medical genetics, Pharmaceutical industry, Pharma

and ROSTOCK, Germany, and BERLIN, Aug. 07, 2023 (GLOBE NEWSWIRE) -- Centogene N.V. (Nasdaq: CNTG), the essential life science partner for data-driven answers in rare and neurodegenerative diseases, today announced its conference schedule for August 2023.

Key Points: 
  • and ROSTOCK, Germany, and BERLIN, Aug. 07, 2023 (GLOBE NEWSWIRE) -- Centogene N.V. (Nasdaq: CNTG), the essential life science partner for data-driven answers in rare and neurodegenerative diseases, today announced its conference schedule for August 2023.
  • CENTOGENE representatives are attending events in Brazil and Switzerland, and will be available to discuss Pharma, CRO, and Diagnostic collaboration opportunities.
  • The Company invites attendees to schedule one-on-one meetings in advance.
  • Please see additional details below:
    For information about the XXXIV Brazilian Congress of Medical Genetics and to arrange a one-on-one meeting, please refer to the event webpage ( https://link.centogene.com/47oVr9i ).

The Galien Foundation Announces 2023 Prix Galien USA Nominees for "Best Biotechnology Product," "Best Pharmaceutical Product" and "Best Product for Rare/Orphan Diseases"

Retrieved on: 
Thursday, July 27, 2023
Heart, Tufts University School of Medicine, University, Doctor of Philosophy, Fred Hutchinson Cancer Research Center, MIT Jameel Clinic, University of Washington, Human Genome Sciences, Koch Institute, Merck, American Cancer Society, Koch Institute for Integrative Cancer Research, Medical genetics, Physiology, Pharmaceutical industry, Biophysics, Biology

NEW YORK, July 27, 2023 /PRNewswire/ -- The Galien Foundation, the premier global institution dedicated to honoring innovators in life sciences, today announced the 2023 Prix Galien USA Award nominees for "Best Biotechnology Product", and "Best Pharmaceutical Product." Nominees have also been announced in the newest Prix Galien Award category, "Best Product for Rare/Orphan Diseases." Winners will be announced during the Prix Galien USA Awards Ceremony on October 26, 2023, at the American Museum of Natural History in New York City. 

Key Points: 
  • "The annual Prix Galien USA Awards provide the opportunity to recognize the incredible achievements of those at the forefront of healthcare innovation, which have become the backbone of many biomedical and technology advances," said Bruno Cohen, Chairman of The Galien Foundation.
  • "We look forward to honoring the most impactful innovations of our generation, center stage, in the heart of New York City."
  • The Prix Galien USA Awards Committee is composed of 11 renowned leaders from the biomedical industry and academia, including three Nobel Laureates, responsible for evaluating nominees.
  • M.D., Former Dean of Tufts University School of Medicine, and former Chief Medical Officer of Merck & Co. Inc.
    Ph.D., Nobel Laureate, Fred Hutchinson Cancer Research Center member; Professor of Physiology and Biophysics, University of Washington
    Ph.D., American Cancer Society Professor of Genome Sciences and Medical Genetics, University of Washington
    Ph.D., Nobel Laureate, Professor of Biology and member of the Koch Institute, Chair of the advisory board of the MIT Jameel Clinic

CCRM Fertility to Open State-of-the-Art Fertility Clinic and IVF Lab in Miami

Retrieved on: 
Tuesday, July 25, 2023
Cognition, Albert Einstein College of Medicine, Heart, American College of Medical Genetics and Genomics, Travel, Bioethics, University, Genetics, Walter Reed National Military Medical Center, Genomics, Parent, Teaching, University of Vermont Medical Center, OBGYN, Master, Infertility, Research, Fertilisation, Bangladesh Technical Education Board, IVF, Science, Suite, Jackson Memorial Hospital, Yeshiva University, Fertility, Fertility preservation, Mount Sinai Hospital, Patient, Freezing, Rabbinic Judaism, Menopause, Gynaecology, Faculty, Genetic testing, Medical genetics, Inova Fairfax Hospital, Reproductive medicine, Environment, Arnold, Birth control, Nursing, Obstetrics, Esplanade, Jews, Medicine

MIAMI, July 25, 2023 /PRNewswire/ -- CCRM Fertility, the global pioneer in fertility treatment, research and science, today announced expansion to South Florida with a new state-of-art fertility clinic and in vitro fertilization (IVF) lab in Miami. The clinic is located in the Esplanade at Aventura development at 19505 Biscayne Blvd., Suite 2230, in Miami, FL, 33180. CCRM Fertility of Miami is co-founded by reproductive endocrinology and infertility specialists, Dr. Jonah Bardos and Dr. Callum Potts. Both doctors are currently accepting new patients.

Key Points: 
  • MIAMI, July 25, 2023 /PRNewswire/ -- CCRM Fertility , the global pioneer in fertility treatment, research and science, today announced expansion to South Florida with a new state-of-art fertility clinic and in vitro fertilization (IVF) lab in Miami.
  • CCRM Fertility of Miami is co-founded by reproductive endocrinology and infertility specialists, Dr. Jonah Bardos and Dr. Callum Potts .
  • "There is an escalated need for high-quality, personalized fertility care in Miami," said Bob LaGalia, president and CEO of CCRM Fertility.
  • CCRM Fertility of Miami is a full-service fertility center that provides fertility testing, fertility preservation, intrauterine insemination, in vitro fertilization, preimplantation genetic testing, LGBTQ+ family-building and third-party reproduction services.

GeneDx to Present New Data on Urine Mitochondrial DNA Testing at the 2023 United Mitochondrial Disease Foundation’s Mitochondrial Medicine Symposium

Retrieved on: 
Wednesday, June 28, 2023
Medical genetics, UMDF, MELAS, MIDD, DNA, Diabetes, GeneDx, Urine, Deafness, Cell, Mitochondrial myopathy, A-DNA, Patient, FACMG, Heteroplasmy, WGS, Lactic acidosis, Vaccine

STAMFORD, Conn., June 28, 2023 (GLOBE NEWSWIRE) -- GeneDx (Nasdaq: WGS), a leader in delivering improved health outcomes through genomic and clinical insights, today announced it will present new data on urine mitochondrial DNA testing at the 2023 United Mitochondrial Disease Foundation’s (UMDF) Mitochondrial Medicine Symposium in Charlotte, North Carolina, June 28 - July 1, 2023.

Key Points: 
  • STAMFORD, Conn., June 28, 2023 (GLOBE NEWSWIRE) -- GeneDx (Nasdaq: WGS), a leader in delivering improved health outcomes through genomic and clinical insights, today announced it will present new data on urine mitochondrial DNA testing at the 2023 United Mitochondrial Disease Foundation’s (UMDF) Mitochondrial Medicine Symposium in Charlotte, North Carolina, June 28 - July 1, 2023.
  • Poster: Is the m.3243A>G variant detected in urine diagnostic for the patient’s disease?
  • “Mitochondrial disease may be caused by genetic variants in DNA found in the nucleus of cells or by genetic variants in the body's mitochondrial DNA (mtDNA).
  • Data presented this week by GeneDx demonstrates how urine mitochondrial DNA testing can be a clinically impactful and non-invasive option for analysis of the m.3243A>G variant.”

Ankara Etlik City Hospital is Live on SOPHiA GENETICS Platform

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Thursday, June 22, 2023
Database, Ankara Etlik City Hospital, Workflow, NGS, Cancer, Research, Biomarker, Sophia, Organization, Cancer syndrome, Sophia Genetics, Data analysis, Patient, Algorithm, GENETICS, Medical genetics, Pharmaceutical industry, Medical imaging

BOSTON and LAUSANNE, Switzerland, June 22, 2023 /PRNewswire/ -- SOPHiA GENETICS (Nasdaq: SOPH), a cloud-native software company in the healthcare space and a leader in data-driven medicine, today announced that Ankara Etlik City Hospital, the largest hospital in the capital city of Turkey, is live on the SOPHiA DDM™ Platform. The hospital, which opened its doors in September 2022 and serves roughly 15,000 patients daily, will utilize multiple SOPHiA GENETICS solutions to streamline genomic testing, specifically associated with hereditary disorders.

Key Points: 
  • BOSTON and LAUSANNE, Switzerland, June 22, 2023 /PRNewswire/ -- SOPHiA GENETICS (Nasdaq: SOPH), a cloud-native software company in the healthcare space and a leader in data-driven medicine, today announced that Ankara Etlik City Hospital, the largest hospital in the capital city of Turkey, is live on the SOPHiA DDM™ Platform.
  • "Since opening our doors eight months ago, we've seen more than two million patients," said Dr. Taha Bahsi, Head of Medical Genetics, Ankara Etlik City Hospital.
  • "The SOPHiA DDM™ Platform offers multiple applications paired with sophisticated algorithms that allow organizations such as Ankara Etlik City Hospital to increase the volume of research and testing," said Abhimanyu Verma, Chief Technology Officer, SOPHiA GENETICS.
  • Ankara Etlik City Hospital has implemented SOPHiA DDM™ applications that will create a streamlined workflow to help accelerate research and will enable Ankara Etlik City Hospital to develop an in-house database of genomic data and insights.