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BioHackathon 2015
in Nagasaki
Department of Human Genetics,
ABDI, Nagasaki University
MISHIMA, Hiroyuki
CC BY 4.0
1.Brief history of Nagasaki
and Nagasaki University
2.My TO-DO LIST for BH15
1641 – 1859: Dejima – the sole place of direct
trading between Japan and outside world
The Medical School (1857-)
J. L. C. Pompe van Meerdervoot from the Netherlands
A. F. Bauduin from the Nerherlands
B. Ryojyun Matsumoto
Nagasaki Medical College
(about 1900)
College Hospital
(about 1920)
August 9th, 1945
11:02am
1967- Atomic Bomb Disease Institute, Nagasaki University
• Radiation risk control unit
• Cellular function analysis unit
• Genomic function analysis unit
• Dept. of Human Genetics
• Atomic bomb disease and Hibakusha medicine unit
• Center for promotion of collaborative research
Human Genetics ::=
Science of
heredity and
variation
in humans
Dr. Toshihisa Takagi
Director-General,
National Bioscience Database Center
The goal of life
sciences is building
databases!
“Database Biology”
Human Genetics ::=
“Database Biology”
“Database Medicine”
Gene Hunting:
Finding causal genes of
rare and
undiagnosed
diseases
NGS - the break-through
1. Massive Parallel Sequencing
technology (biologists)
2. Nagasaki (IATA)
Combination of NGS
+ public databases
has achieved
a triumph in
gene hunting
Is “NGS +
huge sample sets +
huge databases”
a silver bullet
for gene hunting?
Answer: NO
for rare and undiagnosed diseases
1.Heterogeneity – same
phenotype, different causal
genes
2.Only one patient in the world
3.Can be a non typical case of
known rare disease
Knowledge network –
like a brain of a
remarkable researcher
who knows everything
in a field
Togo picture gallery by DBCLS is
licensed under a Creative Commons
Attribution 2.1 Japan license (c)
Biohackers’ answer:
The Semantic Web
Technology
American Journal of Human Genetics, 2015
Dr. Tudor Groza (1:15pm -)
Initiative on Rare and
Undiagnosed Diseases
(IRUD)
Dr. Kenjiro Kosaki (1:00pm -)
Mishima’s TO-LIST
• Develop Docker “data containers”
for my favorite RDFs and the
Virtuoso engine (BioVirtuoso)
• RDFize “HPO Annotation”
• Play with SPARQL and the
Knowledge Network
• Japanese Translation of HPO
• Liftover several databases from
hg19 to hg38
BioHackathon 2015 in Nagasaki

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BioHackathon 2015 in Nagasaki

Editor's Notes

  1. Welcome to Japan, welcome to Nagasaki It gives me great pleasure to talk to you as a local organizer of Biohackathon 2015.
  2. I’d like to talk about two topics, brief history of Nagasaki and What I expect BH15 and myself
  3. From middle of 17c to middle of 19c, under the Sakoku or locked-country policy, an artificial island in Nagasaki called Dejima was the sole place of direct trading between japan and outside world. Thus, Nagasaki was entrance of western items as well as knowledge, science and medicine.
  4. In 1857, Japan’s first western medical school was established in Nagasaki, the medical school. First and second principal were Dr Pompe and Dr Bauduin from the Natherlands. One of student was Ryojun Matsumoto who became Surgeon General later. This hall ls Bauduin hall. This building is Ryojun auditorium. And a builiding over there is Pompe Hall
  5. The medical school was changed its name to Nagasaki medical school.
  6. At the end of World War II, on 1945bAugust 9th 11:02am, Nagasaki had a atomic bombing. Here is Nagasaki medical college. The hypocenter is about 600M far from here. The college was totally destroyed.
  7. Just after bombing, survived doctors in the college played important roles in reconstruction of Nagasaki. In 1967, Atomic bomb disease institute was established for clinical and basic research for atomic bomb survivors or Hibakusha. The Institute has 5 units.