Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder. | Public Health Genomics Knowledge Base (v1.2)

Public Health Genomics Knowledge Base (v1.2)

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

From CDC-Authored Genomics Publication Database

This database contains CDC-authored publications in public health genomics including infectious diseases, newborn screening, reproductive health, genetic testing, cancer, chronic diseases, birth defects and developmental disabilities, environmental and occupational health as well as laboratory, bioinformatics and statistical methods.

---

• The need for a next-generation public health response to rare diseases.
   Valdez Rodolfo et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Oct
• Public Health and Rare Diseases: Oxymoron No More
  Valdez R, et al. Chronic Diseases Volume 13 January 14, 2016
• A statistical approach for rare-variant association testing in affected sibships.
  Epstein Michael P et al. Am. J. Hum. Genet. 2015 Apr 2. 96(4) 543-54
• Utilizing population controls in rare-variant case-parent association tests.
  Jiang Yu et al. Am. J. Hum. Genet. 2014 Jun 5. 94(6) 845-53
• The use of US health insurance data for surveillance of rare disorders: hereditary hemorrhagic telangiectasia.
  Grosse Scott D et al. Genet. Med. 2014 Jan 16(1) 33-9

more