DISCOVERY
遺伝性血管性浮腫診断コンソーシアム

遺伝性血管性浮腫と診断されずに症状に苦しむ患者様を救うために

遺伝性血管性浮腫と診断されずに症状に苦しむ患者様を救うために

DISCOVERY
Diagnostic Consortium to Advance the Ecosystem for Hereditary Angioedema

To help patients who suffer from undiagnosed symptoms of hereditary angioedema.

To help patients who suffer from undiagnosed symptoms of hereditary angioedema.

DISCOVERY
遺伝性血管性浮腫診断コンソーシアム

遺伝性血管性浮腫と診断されずに症状に苦しむ患者様を救うために

遺伝性血管性浮腫と診断されずに症状に苦しむ患者様を救うために

DISCOVERY
Diagnostic Consortium to Advance the Ecosystem for Hereditary Angioedema

To help patients who suffer from undiagnosed symptoms of hereditary angioedema.

To help patients who suffer from undiagnosed symptoms of hereditary angioedema.

DISCOVERY
遺伝性血管性浮腫診断コンソーシアム

遺伝性血管性浮腫と診断されずに症状に苦しむ患者様を救うために

遺伝性血管性浮腫と診断されずに症状に苦しむ患者様を救うために

DISCOVERY
Diagnostic Consortium to Advance the Ecosystem for Hereditary Angioedema

To help patients who suffer from undiagnosed symptoms of hereditary angioedema.

To help patients who suffer from undiagnosed symptoms of hereditary angioedema.

DISCOVERY
遺伝性血管性浮腫診断コンソーシアム

遺伝性血管性浮腫と診断されずに症状に苦しむ患者様を救うために

遺伝性血管性浮腫と診断されずに症状に苦しむ患者様を救うために

DISCOVERY
Diagnostic Consortium to Advance the Ecosystem for Hereditary Angioedema

To help patients who suffer from undiagnosed symptoms of hereditary angioedema.

To help patients who suffer from undiagnosed symptoms of hereditary angioedema.

新着情報一覧

当法人に関する最新情報やプレスリリースについてご案内いたします。

What's New

Latest information and press release about the consortium.

遺伝性血管性浮腫診断コンソーシアム(DISCOVERY)とは

希少疾患の1つである遺伝性血管性浮腫(HAE)の日本における有病率は5万人に1人と言われ、
国内で診断・治療中の患者様が430名程度いるという報告があり、
推定される国内の患者数に対し20%に留まっています。
また、初発~診断までの平均期間(日本:13.8年、欧米:10年未満)は、
欧米と比べると大きなギャップがあります。

当法人は、HAEと診断されずに症状に苦しむ患者様を救うために、
日々HAE患者様と向き合っている医療従事者、学会、患者団体、製薬企業、IT企業などが協働し、
それぞれの専門性や創造性を通じて、日本における適切な早期診断および診断率の向上を目指します。

What is the Diagnostic Consortium to Advance the Ecosystem for Hereditary Angioedema (DISCOVERY)?

The prevalence of hereditary angioedema (HAE), one of the rare diseases, in Japan is said to be 1 in 50,000,
and there is a report that there are about 430 patients under diagnosis and treatment in Japan,
which is only 20% of the estimated number of patients in Japan.
In addition, there is a large gap in the average time from initial onset to diagnosis
(13.8 years in Japan, less than 10 years in Europe and the United States) compared to Europe and the United States.

In order to save patients suffering from undiagnosed HAE,
the consortium will collaborate with medical professionals, academic societies, patient groups,
and pharmaceutical companies, IT companies who deal with HAE patients on a daily basis,
and aim to improve the appropriate early diagnosis and diagnosis rate through their expertise and creativity.

DISCOVERYがチャレンジする3つのテーマ

医療データAI分析

電子カルテやレセプト、健診データ等を基に、HAEと診断されずに症状に苦しむ患者様を特定する為の診断支援人工知能(以下、「AI」)を構築し、そのAIを活用して日常診療での見落とし回避などの仕組みを構築・推進していきます。

非専門医診断支援

非専門医診断支援

HAE非専門医に対する知見提供に加え、HAE専門医コミュニティを構築し、テクノロジーを活用して非専門医が専門医に診断相談をする仕組みを形成・推進していきます。

未診断患者向け疾患啓発

未診断患者様が中心となってお互いにコミュニケーションする仕組みの構築、ならびに当該仕組みを介した疾患啓発情報や自己診断支援ツールを提供します。

DISCOVERY's three themes of challenge

Medical Data AI Analysis

Based on electronic medical records, receipts, health checkup data, etc., we will build diagnostic support artificial intelligence (“AI”) to identify patients suffering from symptoms who have not been diagnosed with HAE, and use the AI to build and promote a system to avoid oversight in daily medical care.

Non-specialist diagnosis support

Non-specialist diagnostic support

In addition to providing knowledge to non-specialists in HAE, we will build a community of HAE specialists, and form a system that allows non-specialists to consult specialists for diagnosis using technology.

Disease awareness for undiagnosed patients

We will establish a system for undiagnosed patients to communicate with each other and to provide disease awareness information and self-diagnosis support tools.

Contact Us

当法人に関するご質問、お問い合わせ等は下記お問い合わせフォームよりご連絡をお願いいたします。

Contact Us

If you have any questions or inquiries regarding the consortium, please contact us using the inquiry form below.

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