Rare diseases ► https://phgkb.cdc.gov/GAPPKB/phgHome.do | Rare diseases

https://phgkb.cdc.gov/GAPPKB/phgHome.do

Last Posted: Mar-24-2017 8AM

From Guideline Database

This database contains updated guidelines, policies and recommendations on genomic research and practice, as provided by professional organizations, federal advisory groups, expert panels and policy groups.

---

• Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder.  
  Published 2015 (Expert panel)
• Unexplained developmental delay/learning disability: guidelines for best practice protocol for first line assessment and genetic/metabolic/radiological investigations.  
  Published 2015 (Expert panel)
• Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency.  
  Published 2014 (International Union of Immunological Societies Expert Committee for Primary Immunodeficiency)
• A framework to start the debate on neonatal screening policies in the EU: an Expert Opinion Document.  
  Published 2014 (Expert group)

more