Medical genetics

Sustainable Funding From a Diverse Donor Base Supports n-Lorem Foundation and its Nano-rare Patients

Retrieved on: 
Tuesday, October 18, 2022
Research, General Health, Pharmaceutical, Philanthropy, Biometrics, Genetics, Fund Raising, Foundation, Science, Biotechnology, Other Philanthropy, Health, News, LinkedIn, FSHD, Therapy, Life, Efficiency, Hope, YouTube, Â, Patient, ASO, RNA, Twitter, Research, Instagram, Program, Asos, Time, University, Muscular dystrophy, Ionis Pharmaceuticals, Drug discovery, Industry, Board, CEO, Medical genetics, Foundation, DNA, Heart, University of British Columbia, Leadership, Pharmaceutical industry, Fine chemical, Medical device, Bachelor of Medicine, Bachelor of Surgery, Facebook

It is now clear that there are many more nano-rare patients than we projected.

Key Points: 
  • It is now clear that there are many more nano-rare patients than we projected.
  • As we bring hope and potential help to these patients, many more find n-Lorem, said Stanley T. Crooke, M.D., Ph.D., Founder, Chairman and CEO of n-Lorem Foundation.
  • It is institutionalized with quality as the highest priority at each step and is scalable to meet the needs of many nano-rare patients.
  • An anonymous donor pledged $8.5 million to support n-Lorems discovery and development efforts to provide experimental ASOs for eight different nano-rare patients.

EQS-News: Fortress Bio’s Portfolio Of Marketed Drugs Could Soon See Three Additions

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Thursday, October 6, 2022
AstraZeneca, Fortification, Therapy, Rheumatoid arthritis, Life, Hospital, Neoplasm, Nationwide Children's Hospital, Dermatology, NDA, Food and Drug Administration Amendments Act of 2007, American College of Medical Genetics and Genomics, Minocycline, NASDAQ, Patient, Drug development, Cell, Checkpoint, Extrapyramidal system, Kidney, ACMG, Cancer, Degenerative disease, GI, Food, Immune system, Menkes disease, CKPT, Rosacea, Fortress Biotech, Gastrointestinal tract, Medical genetics, Immunotherapy, Copper, Liver, Advertising, Injection, Survival, Radiation, St. Jude Children's Research Hospital, Brain, Clinical trial, Doxycycline, CSCC, City, Death, American College, Acne, PD-L1, FDA, City of Hope, Skin cancer, Fred Hutchinson Cancer Research Center, Fine chemical, Pharmaceutical industry, Vaccine, Menkes, Cyprium, Genomics

Fortress Biotech Inc. (NASDAQ: FBIO) is a biopharmaceutical company focused on developing a range of high-potential treatments on its own and through its growing portfolio of subsidiaries and partner companies.

Key Points: 
  • Fortress Biotech Inc. (NASDAQ: FBIO) is a biopharmaceutical company focused on developing a range of high-potential treatments on its own and through its growing portfolio of subsidiaries and partner companies.
  • The novel cancer immunotherapy is being studied as a possible treatment for advanced cutaneous squamous cell carcinoma (cSCC), a difficult-to-treat skin cancer.
  • The current first-line treatment for cSCC is surgery to remove the tumor or radiation therapy to destroy the tumor.
  • Fortress Biotech, Inc. ("Fortress") is an innovative biopharmaceutical company focused on acquiring, developing and commercializing high-potential marketed and development-stage drugs and drug candidates.

Rare Disease PTEN Hamartoma Tumour Syndrome (PHTS) Granted International Classification of Diseases (ICD) Code

Retrieved on: 
Saturday, October 1, 2022
Oncology, Health, Genetics, Research, Science, Pharmaceutical, Biotechnology, Molecule, Hamartoma, American Health Information Management Association, Breast, Incidence, Efficiency, Department, Risk, PTEN, Prevalence, Research, Urinary tract infection, World, Lists of diseases, Health, Fibroblast growth factor receptor 2, Partnership, Industry, ICD, Patient, Embryonic development, Cancer, AHIMA, Physician, University of Cambridge, Genetics, ICD-10, Mean anomaly, Knowledge Organization (journal), Roger Hawkins (drummer), Medical genetics, CDC, Genetic testing, Center, Genetic disorder, Foundation, Autism, Tissue, Insurance, AMP, WHO, Macrocephaly, Natural history, Association, Skin, Awareness, Endometrium, Disease, Disorder, Learning difficulties, Medical device, Birth control, Hospital, Pharmaceutical industry

PTEN Research Foundation, a charity which funds and facilitates research with the aim of developing new and better treatments for PTEN Hamartoma Tumour Syndrome (PHTS), today announced that the rare genetic disease, PHTS, has been given a new and unique disease code in the International Classification of Diseases revision 10, Clinical Modification (ICD-10-CM) system that is managed by the US Center for Disease Control and Prevention (CDC).

Key Points: 
  • PTEN Research Foundation, a charity which funds and facilitates research with the aim of developing new and better treatments for PTEN Hamartoma Tumour Syndrome (PHTS), today announced that the rare genetic disease, PHTS, has been given a new and unique disease code in the International Classification of Diseases revision 10, Clinical Modification (ICD-10-CM) system that is managed by the US Center for Disease Control and Prevention (CDC).
  • For example, a person experiencing migraine headaches will receive a code from category G43 and a person with a urinary tract infection will receive an N39.0 code.
  • These codes are used routinely for health insurance billing and reimbursement, and also support clinical, natural history and epidemiological research.
  • PHTS is a disease caused by an alteration in the PTEN gene.

BioAlberta Recognizes Alberta Innovators and Entrepreneurs at Annual Health and Life Sciences Showcase & Awards Ceremony

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Wednesday, September 28, 2022
Health, General Health, Research, Pharmaceutical, Science, Biotechnology, Science, Medical school, Enzyme, Engineering, Entrepreneurship, Therapy, Ghana UK-Based Achievement Awards, Fruit, Muscle, DUX4, Department, University, FDA, A-DNA, Fellow of Biomaterials Science and Engineering, Publication, Association, World, Faculty, Facioscapulohumeral muscular dystrophy, Pharmacy, International union, Growth, Achievement, Heart failure, Synthetic biology, Industry, Patient, CEO, Medical genetics, Student, Vaccine, Protein, FSHD, Friends, Drosophila melanogaster, Human, Muscular dystrophy, University of Melbourne Faculty of Medicine, Dentistry and Health Sciences, Research, DMD, Infection, Society, Agriculture, Medical device, Pharmaceutical industry

The awards were presented at BioAlbertas Annual Health and Life Sciences Showcase & Awards Ceremony, held in Calgary on September 27th.

Key Points: 
  • The awards were presented at BioAlbertas Annual Health and Life Sciences Showcase & Awards Ceremony, held in Calgary on September 27th.
  • This award acknowledges a company that has shown significant achievement within the marketplace and Albertas business community through strong performance or a leadership role.
  • Accepting this award Co-Founders Matt Anderson-Baron and Jalene Anderson-Baron said: We are very honored to be recognized as the BioAlberta company of the year.
  • BioAlberta is the voice and champion for life sciences in Alberta, committed to creating a thriving and competitive industry by facilitating and accelerating economic diversification, investment attraction and job growth.

King Faisal Specialist Hospital & Research Centre to Power Genomic Interpretation with VarSome

Retrieved on: 
Wednesday, September 28, 2022
Security, Data Management, Other Health, Technology, Biometrics, Medical Devices, Hospitals, Genetics, Clinical Trials, Science, Biotechnology, Software, Other Science, Health, Research, Liver, Whole genome sequencing, American College of Medical Genetics and Genomics, Degenerative disease, Neuroscience, American College, Database, Publication, Patient, Genetics, Association for Molecular Pathology v. Myriad Genetics, Inc., King Faisal Specialist Hospital and Research Centre, CEO, Medical genetics, Consultant (medicine), API, Diagnosis, RC, Research, Association, Classification, KFSH, Transplant, Medicine, Medical imaging, Hospital, Genomics

King Faisal Specialist Hospital and Research Centre (KFSH&RC) will integrate Saphetors proprietary human genome variant interpretation engine, VarSome, into its research and clinical genomics programs.

Key Points: 
  • King Faisal Specialist Hospital and Research Centre (KFSH&RC) will integrate Saphetors proprietary human genome variant interpretation engine, VarSome, into its research and clinical genomics programs.
  • And we are invested in establishing King Faisal Specialist Hospital and Research Centre as one of the worlds leading healthcare providers.
  • Dr Ahmed Alfares, Medical Consultant and Senior Clinical Scientist at King Faisal Specialist Hospital and Research Centre said, VarSome is a crucial asset for clinical geneticists worldwide.
  • King Faisal Specialist Hospital & Research Centre (KFSH&RC) is a leading tertiary & quaternary healthcare provider in the Middle East.

MGI Announces Commercial Launch of HotMPS High-Throughput Sequencing Kit* and Instrument** in Germany

Retrieved on: 
Tuesday, September 6, 2022
Software, Enzyme, Medical genetics, Technology, BGI Group, Research, Agriculture, YouTube, Wehrheim, Precision medicine, Nucleotide, University, LinkedIn, MUST, Centre for Applied Genomics, Laboratory, Patent, CPAS, Annual general meeting, MEDICA, Conference, Twitter, Risk, Institute, MGI, International Conference on Availability, Reliability and Security, General manager, Fine chemical, Hydraulic machinery, Genomics, European

WEHRHEIM, Germany, Sept. 6,2022 /PRNewswire/ -- MGI Tech Co. Ltd. (MGI), a global life science leader and innovator, has announced the commercial availability of its innovative HotMPS reagents* and sequencing instrument** in Germany as of 9 August 2022.

Key Points: 
  • WEHRHEIM, Germany, Sept. 6,2022 /PRNewswire/ -- MGI Tech Co. Ltd. (MGI), a global life science leader and innovator, has announced the commercial availability of its innovative HotMPS reagents* and sequencing instrument** in Germany as of 9 August 2022.
  • Meanwhile, the DNBSEQ-G400** sequencing platform (for HotMPS exclusively) will be presented at MEDICA 2022 on 14-17 November in Dsseldorf.
  • MGI will also attend the 32nd GfH Annual Meeting on 15-17 March 2023 in Kassel as a sponsor.
  • "As our trusted partner, we are excited about MGI's HotMPS chemistry* arriving in Germany and the new research advances it will enable."

Considerations for Policymakers to Improve Healthcare through Telegenetics: A Points to Consider Statement of the American College of Medical Genetics and Genomics (ACMG)

Retrieved on: 
Tuesday, August 30, 2022
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To address this urgent problem, the Advocacy and Government Affairs Committee of the American College of Medical Genetics and Genomics (ACMG) has just released a new Points to Consider statement that will assist policymakers tasked with improving appropriate, broad access to genetics services via telehealth: " Considerations for Policymakers to Improve Healthcare through Telegenetics: A Points to Consider Statement of the American College of Medical Genetics and Genomics ."

Key Points: 
  • To address this urgent problem, the Advocacy and Government Affairs Committee of the American College of Medical Genetics and Genomics (ACMG) has just released a new Points to Consider statement that will assist policymakers tasked with improving appropriate, broad access to genetics services via telehealth: " Considerations for Policymakers to Improve Healthcare through Telegenetics: A Points to Consider Statement of the American College of Medical Genetics and Genomics ."
  • We can continue to address disparities by eliminating barriers to accessing the medical genetics workforce."
  • Improved telehealth policies are necessary to enhance patient care and reduce disparities in accessing genetics healthcare to patients throughout the United States.
  • Founded in 1991, the American College of Medical Genetics and Genomics (ACMG) is a prominent authority in the field of medical genetics and genomics and the only nationally recognized medical professional organization solely dedicated to improving health through the practice of medical genetics and genomics.

2022 Preeclampsia Foundation Vision Grant Awardees Announced

Retrieved on: 
Friday, August 19, 2022
Interview, Mount Sinai Hospital, McMaster University, Hypertension, Oxidative stress, Placental insufficiency, Diagnosis, Obstetrics, Pregnancy, Rivers Foundation (Canada), Board, Classification, Medical genetics, Research, Hope, Visions (Grant Green album), Patient, Review, DNA, Education, Princess Margaret Cancer Centre, University, Pre-eclampsia, Gynaecology, Ageing, Doctor of Philosophy, Awareness, Time-invariant system, Wilson, Snelgrove, Board of directors, Master of Science, Western University, Mother, MD, Placental growth factor, Volunteering, Health, Pharmaceutical industry, Management, Medical imaging, MFM

MELBOURNE, Fla., Aug. 19, 2022 /PRNewswire/ -- The Preeclampsia Foundation and the Preeclampsia Foundation Canada have announced that John Snelgrove, MD, MSc, and Samantha Wilson, PhD, are their 2022 Vision Grant research award recipients respectively.

Key Points: 
  • MELBOURNE, Fla., Aug. 19, 2022 /PRNewswire/ -- The Preeclampsia Foundation and the Preeclampsia Foundation Canada have announced that John Snelgrove, MD, MSc, and Samantha Wilson, PhD, are their 2022 Vision Grant research award recipients respectively.
  • A scientific review committee reviews all Vision Grant applications with a further review by a patient advisory board, who then make a recommendation on the awardees for the year.
  • Dr. Snelgrove's research study entitled "Preeclampsia phenotypes: Reclassifying the hypertensive disorders of pregnancy" will be conducted at Mount Sinai Hospital affiliated with the University of Toronto in Ontario, Canada and funded by the US-based Preeclampsia Foundation.
  • Dr. Wilson's research study entitled "Non-invasively assessing placental aging and oxidative stress as markers for preeclampsia: will be conducted at McMaster University also in Ontario, Canada, and funded by Preeclampsia Foundation Canada.

NORD Breakthrough Summit 2022: Highly Anticipated Rare Disease Conference Announces Keynote Speakers, Session Topics

Retrieved on: 
Thursday, August 18, 2022
FDA, Nursing, Multimedia, CDER, Takeda Pharmaceutical Company, Holt–Oram syndrome, National Center for Advancing Translational Sciences, Health, Indiana University School of Medicine, Orphan Drug Act of 1983, NIH, MS, Division, Assistant, National Organization for Rare Disorders, Medicine, Medical genetics, Human, Degenerative disease, Patient, Research and development, Molecular genetics, Doctor of Philosophy, Doctor of Psychology, Community, MPH, MacLean Center for Clinical Medical Ethics, NCATS, MD, LCGC, Summit, Disease, Pharmaceutical industry, Residential care

WASHINGTON, Aug. 18, 2022 /PRNewswire/ -- The NORD® Rare Diseases & Orphan Products Breakthrough Summit® – the most highly anticipated, global rare disease conference of the year, every year – will be hosted on October 17 and 18, 2022 in Washington, DC. 

Key Points: 
  • NORD's annual rare disease conference on October 17 and 18 in Washington, DC will showcase two days of insightful speakers, discussions, and in-person connection
    WASHINGTON, Aug. 18, 2022 /PRNewswire/ -- The NORD Rare Diseases & Orphan Products Breakthrough Summit the most highly anticipated, global rare disease conference of the year, every year will be hosted on October 17 and 18, 2022 in Washington, DC.
  • NORD Summit begins with a Patient/Caregiver Opening Address to underscore the event's focus on individuals and families, and how the larger rare community can work together to improve the lives of those affected by rare diseases.
  • This year's address, "Finding Our Community," will feature three speakers whose passion is for rare disease advocacy and sharing their strength with those on their own rare journeys.
  • Annie Papik is a researcher at CWRU School of Nursing by day and a fighter, caregiver, mom, and a rare undiagnosed disease advocate by night.

2021 ACMG Salary Survey Report Now Available: Report Provides Valuable Industry Salary Information for Medical Genetics Professionals

Retrieved on: 
Monday, August 1, 2022
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BETHESDA, Md., Aug. 1, 2022 /PRNewswire/ -- The American College of Medical Genetics and Genomics (ACMG) is pleased to announce that the 2021 ACMG Salary Survey Report is now available. This biennial ACMG publication has been a vital source of industry salary information for more than a decade. The report contains the findings of the web-based salary survey that was conducted in the fall of 2021. The survey queried American Board of Medical Genetics and Genomics (ABMGG)- and Molecular Genetic Pathology (MGP)-certified MD, DO and PhD ACMG members practicing in the United States. The report also includes, where appropriate, comparisons with data from the 2019 salary survey.

Key Points: 
  • BETHESDA, Md., Aug. 1, 2022 /PRNewswire/ --The American College of Medical Genetics and Genomics (ACMG) is pleased to announce that the 2021 ACMG Salary Survey Report is now available.
  • This biennial ACMG publication has been a vital source of industry salary information for more than a decade.
  • The report contains the findings of the web-based salary survey that was conducted in the fall of 2021.
  • ACMG is pleased to provide the 2021 Salary Survey Report FREE to ACMG members, as a valuable member benefit.