Rare disease diagnostics & research

  1. Oxford Nanopore Technologies and Al Jalila Children's Specialty Hospital (AJCH) have launched a pilot program to diagnose undiagnosed rare disease patients. Through this collaboration, investigators will verify the effectiveness of long-read sequencing technology.

    Oxford Nanopore Technologies와 Al Jalila Children’s Specialty Hospital(AJCH)이 미진단 희소 질환 환자 진단을 위한 파일럿 프로그램을 시작했습니다. 이번 협력을 통해 롱 리드 시퀀싱 기술의 효과를 검증할 예정입니다.

    Original Article: Genomeweb. Oxford Nanopore, Al Jalila Children's Specialty Hospital Launch Rare Disease Sequencing Program

  1. 3billion signs MoU with Kolon Industries to jointly develop gene therapy for rare diseases. 3billion and Kolon Industries plan on conducting preclinical verification of drug candidates discovered through 3billion’s AI-driven drug development platform.

    지난 9월 1일, 쓰리빌리언과 코오롱 인더스트리 미래기술원은 유전자치료제 개발을 위한 업무협약을 체결했습니다. 쓰리빌리언은 AI 기반 신약개발 플랫폼을 통해 발굴한 치료 후보 물질의 전임상 단계 검증을 코오롱인더스트리와 함께 진행할 계획입니다.

    Original Article: 3billion blog. 3billion signs MoU with Kolon Industries to jointly develop gene therapy for rare diseases

  2. Novo Nordisk will pay $1.1 billion to acquire Forma Therapeutics. Novo Nordisk has recently been strengthening the treatment of rare blood disorders, while Forma Therapeutics has a drug for sickle cell disease in clinical trials.

    Novo Nordisk가 Forma Therapeutics 인수를 위해 11억 달러를 지불할 예정입니다. Novo Nordisk는 최근 희소 혈액 질환 치료제 영역을 강화해오고 있는데, Forma Therapeutics는 임상 시험 단계의 겸상 적혈구 질환 치료제를 가지고 있습니다.
    Original Article: BioPharma Dive. With rare acquisition, Novo Nordisk makes $1B bet on sickle cell disease drug

  3. Treatment for acid sphingomyelinase deficiency (ASMD), an ultra-rare disorder, has been approved for marketing by the FDA on August 31, 2022. Sanofi's treatment Xenpozyme was approved in Europe last June. ASMD has been referred to as Niemann-Pick Types A, A/B, and B. And it is known that there are approximately 120 patients in the United States.

    극 희소 질환 acid sphingomyelinase deficiency(ASMD) 치료제가 FDA 시판 승인을 받았습니다. 사노피의 치료제 Xenpozyme은 유럽에서는 6월에 승인되었습니다. ASMD는 Niemann-Pick Types A, A/B, B로 불려 왔으며, 미국 내에 약 120명의 환자가 있는 것으로 알려져 있습니다.
    Original Article: BioPharma Dive. Sanofi, after long research journey, wins FDA approval for rare disease drug

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