RD-ConnectRD-Connect

  • About
    • Introduction to rare diseases
    • Structure
      • Executive Management Committee (EMC)
      • Scientific Advisory Board (SAB)
      • Patient Advisory Council (PAC)
      • Rare Disease Patient and Ethics Council (RD-PEC)
      • Panel for Biobank Assessment
    • Collaborations
  • What we do
    • Data linkage
      • FAIRification of rare disease registries
      • Linked data and ontology task force
      • Ontologies in rare disease registries
    • Omics data
      • Genome-Phenome Analysis Platform
    • Phenotypic data
      • Registry & Biobank Finder for patient registries
      • Registry common data elements
      • Core Implementation Group
    • Biosamples data
      • Registry & Biobank Finder for biobanks
      • Sample Catalogue
      • Biobank assessment process
      • Biobank Assessment Panel
    • Bioinformatic tools
    • Ethical, Legal and Social Issues (ELSI)
      • Sharing of biosamples and data
      • Standards for informed consent
      • Response to the EU General Data Protection Regulation (GDPR)
    • Patient engagement
  • Resources
    • Newsletters
    • Scientific publications
    • Forms and guides
    • Presentations and flyers
    • Periodic activity reports
    • Glossary
  • For Patients and Families
  • News
  • Events
  • Contact
    • Coordination office
    • Contacts Directory
    • Organisations Directory
VISIT THE PLATFORM
  • Home
  • Person
  • Nenad Blau
 

Nenad Blau

RD-Connect

An integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research. Visit the platform:

Go to analysis platform

Go to registries and biobanks catalogue

Go to biosamples catalogue

Back to directory

Nenad Blau

Position: Professor of Clinical Biochemistry
Organisation: University of Zurich
Area of work: Biobanks

Member of:

Contact information:

Email

Address: Steinwiesstrasse 75 , Zurich, CH-8032, Switzerland

Phone: +41 44 2667539

Background:

Professor Nenad Blau, PhD, was a head of the laboratory for the diagnosis of tetrahydrobiopterin and neurotransmitter disorders at the University Children's Hospital in Zürich, Switzerland until November 2011 and is now affiliated with the Division of Metabolism in Zürich. He is a senior lecturer in biochemistry and metabolic disorders at the University of Zürich and author of more than 300 research publications, including the standard books "Physician's Guide to the Laboratory Diagnosis of Metabolic Disease", "Physician's Guide to the Treatment and Follow-up of Metabolic Disease", and “Laboratory Guide to the Methods in Biochemical Genetics”. His research group discovered several new inborn errors of metabolism, including GTP cyclohydrolase deficiency, pterin-carbinolamine dehydratase deficiency, and sepiapterin reductase deficiency and established database for pediatric neurotransmitter disorders. Professor Blau is an honorary member of the Italian Society for Pediatrics. For his research in the field of tetrahydrobiopterin and phenylketonuria he received in 2001 the Horst­ Bickel-Award, in 2005 the Gowland Hopkins Award, and in 2011 he was honored by Asbjørn Følling award. Professor Blau is currently Senior Consultant in Biochemical Genetics at the Children’s Hospital in Heidelberg, Germany.

Visit the platform

Go to Genome-Phenome Analysis Platform

Go to Registry & Biobank Finder

Go to Sample Catalogue

Newsletter Signup

Recent news

RD-Connect Genome-Phenome Analysis Platform is an IRDiRC Recommended Resource

Published: April 5, 2018

RD-Connect in press

Published: March 1, 2018

Today is the Rare Disease Day 2018

Published: February 28, 2018

Key RD-Connect, NeurOmics and EURenOmics publication

Published: February 27, 2018

RD-Connect and EURenOmics among the DG Research success stories

Published: February 15, 2018

Social

An integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research. Visit the platform:

Genome-Phenome Analysis Platform

Analyse and share genomic data

Registry & Biobank Finder

Directory of rare disease biobanks and patient registries

Sample Catalogue

Browse rare disease biosamples stored in biobanks

Sitemap

  • NEWS
  • EVENTS
  • CONTACT
    • Coordination office
    • Contacts Directory
    • Organisations Directory
  • About
    • Introduction to rare diseases
    • Structure
      • Executive Management Committee (EMC)
      • Scientific Advisory Board (SAB)
      • Patient Advisory Council (PAC)
      • Rare Disease Patient and Ethics Council (RD-PEC)
      • Panel for Biobank Assessment
    • Collaborations
  • What we do
    • Data linkage
      • FAIRification of rare disease registries
      • Linked data and ontology task force
      • Ontologies in rare disease registries
    • Omics data
      • Genome-Phenome Analysis Platform
    • Phenotypic data
      • Registry & Biobank Finder for patient registries
      • Registry common data elements
      • Core Implementation Group
    • Biosamples data
      • Registry & Biobank Finder for biobanks
      • Sample Catalogue
      • Biobank assessment process
      • Biobank Assessment Panel
    • Bioinformatic tools
    • Ethical, Legal and Social Issues (ELSI)
      • Sharing of biosamples and data
      • Standards for informed consent
      • Response to the EU General Data Protection Regulation (GDPR)
    • Patient engagement
  • Resources
    • Newsletters
    • Scientific publications
    • Forms and guides
    • Presentations and flyers
    • Periodic activity reports
    • Glossary
  • For Patients and Families
  • News
  • Events
  • Contact
    • Coordination office
    • Contacts Directory
    • Organisations Directory

Quick links

  • Genome-Phenome Analysis Platform
  • Registry & Biobank Finder
  • Sample Catalogue

Get social

Newsletter sign up

Sign up to our newsletter

RD-Connect

RD-Connect coordination team
Institute of Genetic Medicine
University of Newcastle upon Tyne
International Centre for Life
Newcastle upon Tyne
NE1 3BZ
United Kingdom

Email: Libby Wood (Project Manager)

T: +44 191 241 8621
F: +44 191 241 8770

TOP
/* ----------------------------------------- */ /* Content Template: Loop item in Recent News - start */ /* ----------------------------------------- */ /* ----------------------------------------- */ /* Content Template: Loop item in Recent News - end */ /* ----------------------------------------- */