To improve the health and quality of patients lives with rare diseases and members of society 

“Relay of love” movement where sharing leads to sharing

  Launched in June 2011, the Korean Foundation for Rare Disease is  a nonprofit organization of public interest as an advocate for patients and families with rare diseases with the support and participation of  citizens,  local governments, businesses and organizations. The  parent body of the foundation is the Korea Alliance of Rare Diseases(KARD), which was started in 2001 under the banner of “Relay of love,  hope for patients with rare diseases and their families.” The KARD has held symposiums every year and has carried out ARS fund-raising activities to support medical expenses of patients in needs. 

The foundation supports genetic counseling, rare diseases research 

for the development of effective treatments, diagnosis projects, establishment  and management of volunteer networks, and development and management of special education and childcare programs.

In particular, the foundation has delivered messages of hope to  many patients with rare diseases through “Relay of love” movement , and has played a complementary role in improving awareness, forming consensus, and supporting policies. Chairman Kim  Hyon-Ju says, “We want to contribute to improving the health and  quality of life of patients with rare diseases and their families, as  well as all members of our society.” 

 

[Korea Rare Disease Forum]

Sharing accurate informations and finding solutions

In December 2012, the foundation held a seminar on development,  approval and accessibility of treatments for rare and intractable dis-  eases. Fortunately, over the past 10 years, research and develop-  ment of rare disease treatments have become active, giving patients and their families hopes for overcoming rare diseases  through treatment. However, there is still  lack of understanding on  the specificity and efficacy evaluation of the clinical application of  recently developed new treatments. Treatment costs are very expensive and not affordable to patients and families without public assistance.

[The 1st Korea Rare Disease Forum] in 2016  aimed to encourage our society to listen to the voices of patients with rare diseases under the  theme of ‘Voice of Patients’. The forum included the passage of the  Rare Disease Management Act by the National Assembly in 2015 and the establishment of a 5-year comprehensive government plan in addition to the Genetic Counseling Service Support Project including genetic testing expenses for patients with rare diseases in the lowincome bracket since in May 2012 by the Foundation. At the 4th forum held in 2019, the topic was a paradigm  shift in the diagnosis and treatment of ‘developmental disabilities  and autism’. The forum publicized the need for diagnosis and genetic counseling services through early screening and genetic testing, improving awareness and raising the voices of families. 

 

[The 5th Korea Rare Disease Forum]

Welcoming and congratulatory speeches from all walks  of life

At the last day of February, the Foundation held [the 5th Korea Rare  Disease Forum] to commemorate World Rare Disease Day. The forum was held under the theme of “development of rare disease  treatment and access to new treatment” ahead of the clinical trial  of the newly researched and developed retinitis pigmentosa (RP)  treatment.

RP is one of the most common hereditary retinal diseases in which  night blindness begins in adolescence and gradually narrows the  visual field and causes vision loss, eventually leading to blindness. It  is an incurable disease that is difficult to treat and affects one in  4,000 to 5,000 people worldwide. To this end, artificial retinas, retinal stem cells, and gene therapy are in progress.

In this forum, Kim Ye-ji, a People’s Power member of the National  Assembly, who was diagnosed with visual impairment as  an RP, who received a doctorate from the University of Wisconsin, USA. Kim said, “Even if R&D for cure of blindness has advanced, the government and  society do not actively play a role, patients will continue to face  great difficulties in the blind spot. As a member of the National Assembly, I will listen to the opinions of patients and their families, experts and government officials, and pay attention to reflect them  in laws and policies.” Member of the National Assembly Health and  Welfare Committee Seo Jeong-sook expressed her gratitude to  the Korea Rare Disease Foundation Chairman Kim Hyun-joo and  related officials in writing. Seo said, “I hope that this forum will provide a little hope and courage to patients with rare diseases and  their families, and I will also continue my legislative policy efforts.”  Choi Jeong-nam, Chairman of the Korean Foundation for Fighting  Blindness, in his congratulatory speech said, “This forum is very  valuable as it will improve ‘research on rare diseases and access to  new drugs’. We ask for your active cooperation and support so that  we can achieve the ‘miracle of opening the eyes of the blind’ together in the near future.” This foundation started as a Korean RP  patient association and now has more than 10,000 patients and  their families. In 2005, the foundation conducted genetic testing for  the first time in Korea together with Seoul National University Eye  Hospital through a briefing session on RP disease. Ji Young-mi, Director of the Korea Centers for Disease Control and Prevention said, “We will diversify support projects for rare diseases and continuously  develop the management system.” In addition,  Jeon Jong-gwan, Chairman of the Korean Society of Medical Genetics and Genomics, and Lee  Jong-seok, a member of the National Assembly,  sent congratulatory remarks to the forum.

 

Topic presentations and discussions

Genetic testing and genetic counseling service required

At this forum, Han Kim, emeritus professor of  medical genetics at Ajou University School of Medicine, introduced rare disease R&D and the international rare disease research consortium(IRDiRC). Kim  said, “Less than 5% of the 8,000 rare diseases  treatments currently have been developed. Along  with the recent development of genome research and  technologies, changes in new drug development approval regulations are accelerating the development of rare disease treatments. Launched in  2011, the International Rare Disease Research  Consortium promotes international cooperation and  joint research in the research and development of  treatments for rare diseases.”

Following Kim, Professor Lee Seong-wook of the  Department of Convergence Biotechnology at  Dankook University pointed out the high blindness  rate of RP and the absence of effective treatments,  and mentioned the need for new treatments alongside introducing an RNA replacement enzyme platform that overcomes the disadvantages of existing  DNA/RNA technologies. Director Kyung Kim of Humanscape said the cause of RP is mutations in more  than 317 different genes that target various cells  within the retina, and there are still many unknown  genes. Kim introduced a domestic hereditary RP patient genetic testing protocol to find it out, and the  protocol currently aims to have data on 1,000 patients  by the end of December 2025.

Korea Foundation for Fighting Blindness planning  head Park Heo-soon and the RP Patient Association  president Choi Jeong-nam presented on international  treatment development status of hereditary retinal  disease (IRP). According to the presentations, the  FDA approved Luxturna in 2017 to treat children and  adults with retinal dystrophy associated with a bi-allelic RPE-65 mutation and clinical trials for treatments  have increased worldwide, reaching the stage of using them.

Attended on the panel discussion on ‘access to RP new therapies’ afterwards were  Professor Lee, Chairman Choi, Department of Health and Welfare Insurance and  Pharmaceuticals Department Chang-Hyeon Oh, Department of Bioethics Policy  and Gene Therapy Research Officer Yuna  Jung, Korea Centers for Disease Control  and Prevention Rare Disease Management Department Manager Ji-Won Lee,  Health Insurance Review & Assessment  Service Drug Management Department Director Mi-Young Yoo. Chaired by Chairman Kim, dis-  cussions were held on establishing and operating a  virtuous cycle system for managing rare diseases  through the government’s 2nd Comprehensive Plan  for Management of Rare Diseases (2022-2027).

Chairman Kim also explained the importance of ge-  netic testing and genetic counseling services in an  interview with this magazine after the forum. Most of  the rare diseases are confirmed to be caused by mutat-ions in genes, and in the case of RP, it is one of the  representative rare diseases caused by mutations in various genes. If genetic testing and genetic counsel ing services become widely available, diseases can be  identified and managed appropriately through early  and accurate diagnosis. Director Kim emphasized that  it is necessary to activate genetic counseling services because rare diseases can be prevented through high-risk  family members, as well as accelerate research and  development of treatments and clinical application.  Chairman Kim plans to provide an opportunity for  multi-interest parties(multi stakeholders) to gather in one place to share accurate information and seek solutions to problems  through the forum. Kim also said that she would do her  best to overcome and prevent  rare diseases by expanding related convergence education programs  nationwide.

권동호 기자  dongho2010@naver.com