1. Gene therapy company Avrobio has stopped developing a treatment based on clinical trial results for the Fabry therapy. Avrobio attempted to treat Fabry disease through a stem cell gene therapy using a lentivirus.

    유전자 치료제 개발 회사인 Avrobio가 파브리 치료제 임상 시험 결과에 따라 치료제 개발을 중단했습니다. Avrobio는 lentivirus를 활용해 환자의 줄기세포 유전자 치료를 통한 파브리병 치료를 시도했습니다.
    Original Article: BioPharma Dive. Avrobio stops work on rare disease gene therapy after unexpected study results

  2. ImmixBio has received Rare Pediatric Disease (RPD) designation from the FDA for the treatment of a rare pediatric cancer. The treatment IMX-110 has already received orphan drug designation (ODD) from the FDA as a treatment for soft tissue sarcoma.

    ImmixBio가 FDA로부터 희귀 소아암 치료제에 대해 Rare Pediatric Disease(RPD) 지정 승인을 받았습니다. 치료제 IMX-110은 FDA로부터 이미 연조직 육종 치료제로 희귀질환 치료제 지정(ODD)을 받은 바 있습니다.
    Original Article:  BipPharma - reporter.com. FDA approves Immix Biopharma Rare Pediatric Disease Designation for cancer treatment

  3. Pfizer and Beam have signed a $1.3 billion contract to develop three treatments for rare genetic disorders. The two companies plan to develop the treatments using base editing technology.

    화이자와 Beam이 3가지 희귀 유전질환 유전자 치료제 개발을 위해 $1.3 billion 규모의 계약을 맺었습니다. 두 회사는 단일 염기서열 치환 기술을 활용해 희귀질환 치료제를 개발할 예정입니다.
    Original Article:  Barron’s. Pfizer, Beam Therapeutics Partner to Develop Treatments for 3 Genetic Diseases

Rare disease diagnostics

  1. Pacific Bioscience announced that it is collaborating with Care4Rare Canada Consortium to diagnose rare diseases through WGS testing. They plan to diagnose undiagnosed patients by using PacBio’s long-read sequencing technology on samples that have been sequenced with short-read technology .

    Pacific Bioscience가 Care4Rare Canada Consortium과 WGS 검사를 통해 희귀질환 진단 협력을 한다고 발표했습니다. PacBio의 long-read 시퀀싱 기술을 통해 short-read 시퀀싱을 통해 미진단 환자들을 진단할 예정입니다.
    Original Article:  GenomeWeb. Pacific Biosciences, Care4Rare Canada Consortium Collaborate on Rare Disease Research

  2. Genomics England has announced plans to conduct Whole Genome Sequencing (WGS) for 5 million people over the next five years. The UK started the 100,000 Genome Project in 2013 and achieved the target of WGS for 100,000 people in 2018, and immediately announced its business expansion plan.

    Genomics England가 향후 5년 동안 5백만에 대한 WGS(Whole Genome Sequencing)을 진행하겠다는 계획을 밝혔습니다. 영국은 2013년 ‘100,000 Genome Project’를 시작해 2018년에 10만 명에 대한 WGS라는 목표를 달성 했고 곧바로 사업 확장 계획을 밝힌 바 있습니다.
    Original Article: Technology Networks. Genome Sequencing in Modern Medicine: An Interview With Genomics England

Rare disease patient stories

  1. TikTok star Marky Jaquez, who suffered from a rare disease called epidermolysis bullosa, has passed away. Marky and her parents have been trying to raise awareness of living with a rare disease and give hope to patients. The parents said they will continue to do this in the future.

    Epidermolysis bullosa라는 희귀질환을 앓았던 TikTok 스타 Marky Jaquez가 사망했습니다. Marky와 부모는 통해 희귀질환에 대해 알리고 환자들에게 희망을 전하는 노력을 해왔습니다. 부모는 이같은 노력을 앞으로도 계속해 나가겠다고 말했습니다.
    Original Article: FOX4. Kansas TikTok star passes away, but his legacy remains

  2. Nikki Deeley has been suffering from persistent pain for 10 years after being diagnosed with fibrous dysplasia. However, she continues to challenge herself to raise awareness of rare diseases, such as running for charity and fundraising.

    Nikki Deeley는 Fibrous Dysplasia 진단을 받고 10년째 지속적인 통증을 견디고 있습니다. 하지만 자선 달리기를 진행하고 모금활동을 하는 등 희귀질환을 알리기 위한 도전을 계속하고 있습니다.
    Original Article: Liverpool Echo. Woman, 24, in constant pain for 10 years due to rare disease

Other healthcare news

  1. Facebook has announced that it will ban patient-targeted advertising through messages based on a user's health status. This is likely to influence clinical patient recruitment that has been done through Facebook advertisements.

    페이스북에서 사용자의 건강 상태에 근거한 메세지를 통한 환자 타겟 광고를 금지한다고 발표했습니다. 페이스북 광고를 통한 임상 환자 모집에 영향을 미칠 것으로 보입니다.
    Original Article: Politico. Facebook ad ban may squelch medical research recruitment

  2. In 2021, the Australian government funded a total of $63.4M for 27 projects through RCRDUN (Rare Cancers, Rare Diseases and Unmet Need). Detailed project information and funding amount can be found at the link below.

    2021년 호주 정부가  RCRDUN을 통해  27개 프로젝트에 총액 $63.4M 규모를 지원했습니다. 상세한 프로젝트 정보과 펀딩 금액은 아래 링크에서 확인할 수 있습니다.
    Original Article: Health Portfolio Ministers. $63.4 million for rare cancers and rare diseases research