SMCHD1

Study Shows that OGM Plays an Important Role in Efficient Diagnosis of FSHD

Retrieved on: 
星期四, 十一月 30, 2023
NGS, SMCHD1, OGM, Facioscapulohumeral muscular dystrophy, SAN, FSHD, LDT, Mosaic, Laboratory, Leiden University Medical Center, Bombay Hospital, Diagnosis

The study authors assessed the yield of OGM for diagnosing FSHD1 and the ability of next generation sequencing (NGS) to be used as a reflex test to identify FSHD2.

Key Points: 
  • The study authors assessed the yield of OGM for diagnosing FSHD1 and the ability of next generation sequencing (NGS) to be used as a reflex test to identify FSHD2.
  • The study, which included 547 cases with a clinical suspicion of FSHD, used an algorithm that utilized OGM to identify the FSHD haplotype and quantitate the number of D4Z4 repeats found on chromosome 4.
  • “Bionano Laboratories has developed a powerful menu of OGM-based LDTs, including one LDT for FSHD1 diagnosis.
  • We are pleased to see this prestigious group of researchers’ findings from the largest FSHD study to date utilizing OGM.

SOLVE FSHD Provides Funding to n-Lorem for a Collaboration to Expand Understanding of FSHD2, a Rare Form of Muscular Dystrophy

Retrieved on: 
星期二, 九月 13, 2022
Research, Other Health, General Health, Philanthropy, Pharmaceutical, Hospitals, Genetics, Fund Raising, Foundation, Clinical Trials, Science, Biotechnology, Health, ASO, YouTube, Therapy, Efficiency, Twitter, Chip, Hope, LinkedIn, Facioscapulohumeral muscular dystrophy, Learning, Patient, SMCHD1, CEO, Instagram, Quality of life, Ionis Pharmaceuticals, FSHD, Leadership, Muscular dystrophy, Board, RNA, Research, DNA, Drug discovery, Pharmaceutical industry, Medicine, Facebook

In addition, this funding supports the expansion of n-Lorems research and discovery efforts, significantly enhancing the capabilities of the foundation.

Key Points: 
  • In addition, this funding supports the expansion of n-Lorems research and discovery efforts, significantly enhancing the capabilities of the foundation.
  • We are grateful to Solve FSHD for this generous support.
  • FSHD2 is a form of muscular dystrophy that affects approximately five percent of FSHD patients.
  • The organization will fund innovative biotech and biopharma research and development activities that accelerate novel treatments and therapies for FSHD.