GENEX, Inc.
ARK Mori Building 25F
1-12-32 Akasaka, Minato-ku, Tokyo 107-6025, Japan
TEL: +81-70-2490-8411 | FAX:+81-3-4323-4052
https://genex.co.jp| support@genex.co.jp

FOR IMMEDIATE RELEASE:

Genex to begin trusted whole-genome information management services
for people with rare diseases, in a first for a private company in Japan- Being a patient-initiated genomic data custodian, Genex will work with physicians to support
diagnoses and clinical trials for mitochondrial disease -TOKYO, January 28, 2022 – GENEX, Inc. (headquarters: Tokyo; Representative Director and President: YAGI Ken;hereinafter, Genex) is pleased to announce that it is participating in joint research on the pathology and developmentof treatments for mitochondrial disease*1, a designated Nanbyo (rare intractable diseases), and has begun a modelbusiness operation that acquires and manages whole genome information*2 on behalf of patients in January 2022.
With permission from the multi-institutional joint research project with Saitama Medical University, Chiba
Children’s Hospital and Juntendo University, Genex will serve as a custodian of whole genome information using ahighly secure system. This is the first time a private company in Japan that is neither a medical nor an academic
research institution will store and manage whole genome information on behalf of patients.* Genex aims to help
create a sustainable ecosystem where patients and the public are more involved; affected individuals are empowered
to provide information that can contribute to others and the greater society, and in return they receive offers toparticipate in clinical trials, access to expanded diagnostic and therapeutic options, and benefit from an enhanced
quality of life.
*Based on a Genex survey as of January 11, 2022
Background
Patients with rare diseases, such as designated intractable diseases, often spend years getting a definitive diagnosisand treatment protocol. On the other hand, as studies have progressed with detailed genomic information ofindividual patients, so has the understanding of mechanisms of rare diseases. While whole genome information is aresource that can provide definitive value to both the patient and others who suffer similar conditions, until now, there
has been no system to acquire and manage whole genome information directly from patients in Japan.
Overview
Genex began operations to acquire and manage whole genome information for patients suffering from mitochondrial
diseases and to support physicians in diagnosis and improving patient recruitment in clinical trials. Prior to this, under
the Ethical Guidelines for Human Life Sciences and Medical Research implemented on June 30, 2021, and following
a review by the Institutional Review Board, Genex received permission to participate in a multi-institutional joint
research project with Saitama Medical University, Chiba Children’s Hospital and Juntendo University (principalinvestigator: Professor Akira Ohtake, Department of Pediatrics and Department of Clinical Genomics, Faculty ofMedicine, Saitama Medical University). Genex is ready to obtain an electronic informed consent and a saliva sample
from each patient. Whole genome information entrusted to Genex by the patients is securely protected in our
Personal Data Bank (PDBank)TM *3 and safely managed for use in accordance with each individual’s consent status.
Genex acquires whole genome information from mitochondrial disease patients 16 and over who have provided orwill provide consent. With this information, it issues test reports and conducts other activities to translate its findings
into clinical settings. In addition, as part of the joint research project, this whole genome information is beingcombined with medical records and other information gathered for over 15 years by the research institutions in thehopes to produce new findings and results.
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Future outlook
Genex envisions a future where individuals decide the “with whom” (designated receiving party) and the “when andhow” (consent agreement) of their own whole-genome information. As a first step, Genex will collaborate withpharmaceutical companies, patient advocacy groups and other organizations and provide joint research intellectual
property and characteristic data sets for drug development and clinical trials. In addition, given the approximately
400 million people suffering from rare or undiagnosed diseases, we hope to expand into other diseases and healthcare
fields to scale our operations and become profitable.
Many challenges remain for the rare diseases community. One is the high risks associated with business feasibility
and personal information management, leading to a significant disincentive to sponsor industry-initiated clinical
trials. In recent years, however, pharmaceutical companies around the world are taking a more strategic approach torare diseases research and development. With this trend, Genex will spearhead its rare-disease initiative and strive tocreate a proof of concept of a broader genomic medicine ecosystem.

Glossary
1. Mitochondrial disease is a collective name for disorders caused by a decline in mitochondrial activity and is themost common group of hereditary metabolic disorders. With an incidence rate of one out of 5,000 births,
mitochondrial disease often causes a variety of serious fatal symptoms, especially for those afflicted in childhood.
Some patients develop mitochondrial disease slowly over time after reaching adulthood. Nonetheless, there is no
curative treatment and the disease can only be managed by supportive therapy. Much hope is being held forbreakthroughs to identify the genetic and environmental factors that lead to the onset of this disease, which affects
mitochondrial activity in a wide range of organ systems.
There are approximately 1,500 patients in Japan who are qualified to receive specified medical expenses, as having
mitochondrial disease, in the national Nanbyo (rare intractable diseases) healthcare system. However, this number
could underestimate the actual prevalence when we consider possible 20,000 undiagnosed cases. Mitochondrial
dysfunction may possibly be related with diabetes, Alzheimer’s Disease, Parkinson’s Disease and other afflictions
and is biologically associated with aging and cancer. By gathering high-quality information on the characteristics ofmitochondrial disease, we hope to help accelerate the development of diagnostic tests and treatment methods, expand
indications of existing drugs, and enhance understanding of related disorders with better disease stratification.
2. Whole genome information is obtained from the 3 billion nucleotides of an individual’s complete DNA basesequence. It includes intron, regulatory region, genome structure and other information that cannot be obtained fromgene panel testing or exome sequencing. Even highly experienced physicians find it difficult to diagnose
mitochondrial disease and other rare diseases based on symptoms and common test results alone. Whole-genome
analysis can be used as a powerful and exhaustive search tool. In addition, whole-genome analysis has the potential
to provide new information on disease causative genes for potential drug targets.
3. Personal Data Bank (PDBank)TM is a service that securely protects and safely manages whole genome information
entrusted by individuals for use in accordance with individual consent status. Under a government-backed“Information Bank” (Trusted Personal Data Management Service: TPDMS) certification scheme, it utilizes “paspitfor X” based on “paspit” developed by DataSign, Inc. (https://datasign.jp/), which has received certification forfulfilling set criteria in the handling of personal information and safety management. Genex has developed a systemthat safely manages entrusted whole genome information, which potentially can be considered sensitive personalinformation.
About GENEX, Inc.: Established as a start-up in August 2019 to plan and operate genome and healthcare-related
data platforms with Monex Group, Inc., Sugi Holdings, Co., Ltd., Kaken Pharmaceutical Co., Ltd., and others asshareholders.
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