Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.


Genetic and Rare Diseases Information Center (GARD)

Print friendly version


Other Names for this Disease
  • Folling disease
  • Oligophrenia phenylpyruvica
  • Phenylalanine hydroxylase deficiency
  • PKU
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.


ORDR-Sponsored Conferences

  • NPKUA’s 2014 National Conference: Making PKU History, Thursday, July 10, 2014 - Sunday, July 13, 2014
    Location: Hilton Salt Lake City Center, Salt Lake City, UT
    Description: Anticipated goals and use of results:. 1) To present and evaluate the latest medical advances and treatment options in PKU, including the NIH and ARHQ recent efforts in evaluating PKU gaps in treatment. 2) To offer a scientific platform for discussion between PKU researchers from around the national and the world, to share findings and interact during the Scientific Exchange. 3) To education clinical practitioners as well as affected individuals and their families. 4) To further opportunities for junior investigators and researchers to interact and develop their talents and to recruit young, creative individuals to the field of inherited metabolic diseases, especially PKU. 5) To create an atmosphere of support and networking between families and individuals with PKU across the nation and around the world. Acting on the results of evaluations, the Scientific Advisory Board will plan future meetings and share the result son the NPKUA website

  • RDCRN 3rd Conference on Clinical Research for Rare Diseases, Tuesday, October 02, 2012
    Location: Hilton Washington DC/Rockville Hotel & Executive Meeting Center, Rockville, MD
    Description: Clinical research in rare diseases presents a number of challenges and unique issues that are not usually considered in the training of clinical investigators through existing training programs. Goals of the conference include: direct instruction of trainees and new investigators in rare disease research methodology; development of a reusable curriculum/syllabus on rare disease research methodology; and stimulation of ideas regarding the unique issues facing investigators engaged in the study of rare diseases.

  • Phenylketonuria Scientific Review Conference: State of the Science and Future Research Needs , Wednesday, February 22, 2012 - Thursday, February 23, 2012
    Location: NIH Natcher Conference Center, Bethesda, MD
    Description: Together, the PKU Scientific Conference and the Evidence-based Practice Center report will provide evidence on important issues, recommend future research, and provide guidance to patients, their families, and health care professionals.

  • Newborn Screening in the Genomic Era: Setting a Research Agenda, Monday, December 13, 2010 - Tuesday, December 14, 2010
    Location: Rockville, MD
    Description: This meeting allowed leaders in the fields of genomics and newborn screening to learn from each other and together explore new ways to advance research on new genomic technologies, potential health applications for newborn screening and beyond, and related ELSI issues.

  • VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010): Global Approach to Accessibility in Rare Diseases, Orphan Drugs and Neglected Diseases , Thursday, March 18, 2010 - Saturday, March 20, 2010
    Location: Palais Rouge Convention Center, Palermo, Buenos Aires, Argentina
    Description: For the first time, the VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010) was convened in the southern hemisphere in agreement with its aim of globalization of rare diseases research and orphan products development activities.