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講演:臨床研究における「研究公正」の諸問題/Extracting new biological insights from patients with undiagnosed diseases:平成28年8月22日

九州大学 医学研究院次世代医療研究開発講座より、講演のご案内を申し上げます。
皆様のご参加をお待ちしております。

1.日 時:

平成28年8月22日(月) 17:00~18:30

2.場 所:

九州大学 病院キャンパス 基礎研究A棟 第1講義室
※下記URL中央の【 病院周辺地図 】うち、【 医学部 基礎研究A棟 】になります。
http://www.hosp.kyushu-u.ac.jp/access/index.html

3.演 題:

1)臨床研究における「研究公正」の諸問題
ARO次世代医療センター 特任講師 河原 直人 先生

2)Extracting new biological insights from patients with undiagnosed diseases
慶應義塾大学医学部 臨床遺伝学センター センター長 小崎 健次郎 先生

Whole exome sequencing and whole genome sequencing projects unraveled genetic bases of
many Mendelian disorders which are established as a known clinical entity.  In contrast to
such projects that aims to find genetic basis of already-known diseases, a new series of
projects that try to unravel genetic bases of patients who have no apparent clinical diagnosis
but may have genetic basis because of familial occurrence or multisystem distribution.
These classes of disorders are referred to as undiagnosed disease, yet-to-be-described diseases,
or syndromes-without-a-name. Such project aims to establish a new clinical entity itself
by establishing genetic basis through exome sequencing or whole genome sequencing.
There is no consensus regarding the definition of establishment of new entity.
Example criteria include the NIH-NHGRI guideline (2014), define as follows:
Variants in the same gene and similar clinical presentations have been confidently
implicated in multiple unrelated individuals.  We have succeeded in finding and establishing
two new syndromes: a new overgrowth syndrome caused by PDGFRB mutations and
a new thrombocytopenic syndrome caused by CDC42 mutations.  However, it is difficult
for a particular clinician to have a chance to evaluate two patients with the same
condition which is presumably yet-to-be-described and thus rare.  Identification of
two or more patients with similar spectrum of phenotypic features and pathogenic
mutation(s) in the same gene is difficult from a practical standpoint when those
patients are being followed in separate clinics.  Standardized method that ensures
systematic comparison would facilitate inter-individual comparison on a global scale
and thus delineation of two or more patients with “yet-to-be-described” disorder.

司会: 九州大学医学研究院 次世代医療研究開発講座 教授 杉山大介

4.参加費: 無料

5.申込み: 不要

○主催:
九州大学医学研究院次世代医療研究開発講座
Tel 092-642-6210 fax 092-642-6146

○共催:
九州大学 ARO次世代医療センター
九州大学グローバルアントレプレナー育成促進事業(EDGEプログラム)