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Third NIH Conference on Holoprosencephaly (HPE):
Midline and Laterality Development

This conference is supported by the NIH Office of Rare Diseases
and the Carter Centers for Brain Research in Holoprosencephaly
and Related Malformations

National Institutes of Health
Pookshill Marriott Hotel
Bethesda, Md.

April 18-20, 2004

Saturday Night: Get-together for conference participants at Max Muenke's home (across from hotel). Please R.S.V.P. if you plan to attend.

Day One: Sunday, 9:00 a.m. - 6:00 p.m.

Early Embryonic Development: Signaling Pathways Involved in Midline and Laterality
  • Max Muenke: Welcome and opening of the conference

HPE Studies at NIH: 9:00 a.m. - 10:00 a.m.

  • Erich Roessler: Mutational Analysis of GLI2 in Congenital Brain Malformations
  • Kenia El-Jaick: Mutational Analysis of TGIF, TGIF2, and SHH in Holoprosencephaly
  • Jayaprakash Karkera: Mutational Analysis of Developmental Genes in Congenital Cardiac Malformations
  • Ben Feldman: Mutational analysis of FAST1/FOXH1 in Patients with Midline and/or Laterality Defects
Invited Speakers

Session 1: 10:15 a.m. - 12:00 p.m.

  • Jill Helms: Timing is Everything: Shh Coordinates Brain and Face Development
  • Douglas Epstein: Transcriptional Control of Sonic Hedgehog Signaling in the Mouse CNS
  • Ariel Ruiz i Altaba: SHH-GLI signaling in Stem Cell Development and Cancer
  • Rolf Karlstrom: Zebrafish Hh pathway Mutants as a Model for Understanding Forebrain and Pituitary Defects in Holoprosencephaly

Lunch: 12:00 p.m. - 1:15 p.m.

Session 2: 1:15 p.m. - 2:15 p.m.

  • Robert Krauss: CDO, Sonic Hedgehog Signaling and Holoprosencephaly
  • Youngshin Lim (Jeff Golden's Lab): BMP Signaling in Dorsal-Ventral Patterning of the CNS
  • Cory Abate-Shen: Role of Msx Homeobox Genes in Regulation of Differentiation

Session 3: 2:30 p.m. - 3:30 p.m.

  • Michael Shen: Roles of EGF-CFC Genes in Axial Midline Patterning
  • Jeffrey Ming: Actions of TGIF in Development
  • David Wotton: Regulation of Development by TGIF

Session 4: 3:45 p.m. - 4:30 p.m.

  • Rebecca Burdine: Nodal Signaling and an Active Role for the Midline in Left-Right Patterning
  • Marni Halpern: L/R Asymmetry in the Zebrafish Brain

Invited Keynote Speaker: 5:00 p.m. - 6:00 p.m.

  • Cliff Tabin: Interpreting the SHH Signal Within the Developing Limb Bud.

To follow: Supper at Max Muenke's home for conference participants. Please RSVP, if you plan to attend.

Day Two: Monday, 9:00 a.m. - 6:00 p.m.

Clinical Aspects of Holoprosencephaly

Cholesterol and Associated Disorders: 9:00 a.m. - 9:45 a.m.

  • Richard Kelley: Mechanisms of Malformation in Disorders of Cholesterol Biosynthesis
  • Forbes D. Porter: Smith-Lemli-Opitz Syndrome: Human Syndrome and Mouse

International Studies in Holoprosencephaly: 10:00-12:00 a.m.

  • Kohei Shiota: Holoprosencephaly in the Kyoto collection of Human Embryos: Phenotypic Variability and Epidemiologic Characteristics
  • Ferechte Razavi: "Holo...Encephaly": A New Form of Dorsoventral Patterning Defect?
  • Ieda Orioli: MOLECLAMC, A Molecular Epidemiological Network for the Study of Birth Defects in South America with Special Emphasis on Holoprosencephaly
  • Sylvie Odent: Holoprosencephaly Studies in France: Mutation Review and Genotype-Phenotype Correlations
  • Ute Hehr: Phenotypic and Mutation Spectrum in German HPE Patients
  • Sherri Bale: Molecular Diagnosis of Holoprosencephaly in the US and Europe
  • Peter Hammond: Modelling Craniofacial Dysmorphology in 3D

Lunch: 12:00 p.m. - 1:00 p.m.

Selected Abstracts for Platform Presentation: 1:00 p.m. - 2:15 p.m.

  • Jessica Sullivan-Brown: Characterization of locke: Understanding the Link Between Kidney Cysts and Left-Right Patterning Defects
  • Lynn Mar: Analysis of the TGIF Knockout Mouse
  • Steve Brown: In-vitro Analysis of HPE-associated ZIC2 Mutations Indicates that Increased as well as Diminished ZIC2Activity Can Result in HPE
  • Goekhan Uyanik: Human Neuronal Migration Disorders Associated with Midline Defects
  • Simone Vaz: Risk Factors for the Development of Holoprosencephaly: A Manitoba-Based Case Control Study
  • Dorothy Grange: Nasal Pyriform Aperture Stenosis in Three Infants with Variable Associated Features of Holoprosencephaly
  • Julian Martinez: Genetic Testing in Holoprosencephaly: Identification of Potential Candidate Genes

HPE Clinical Studies at NIH: 2:15 p.m. - 3:00 p.m.

  • Felicitas Lacbawan: Overview of the NIH Clinical Study on HPE
  • Chris Sarampote: Psychological Aspects of the NIH Clinical Study on HPE
  • Claude Bendavid: Study of Submicroscopic Deletions in HPE

Carter Center Clinical Studies: 3:15 p.m. - 4:45 p.m.

  • Orit Glenn: Prenatal Diagnosis, Fetal MRI, and Newer Image Findings
  • Jin Hahn: Neuroimaging: Clinical and Radiological Correlations in HPE
  • Elaine Stashinko: A Retrospective Survey of Perinatal Risk Factors of 104 Living Children with Holoprosencephaly
  • Cindy Roesler /Judy Flax /Sarah Paterson (April Benasich's lab): Neurocognitive Development in HPE
  • Eric Levey: Clinical Management of HPE

Invited Keynote Speaker: 5:00 p.m. - 6:00 p.m.

  • Jeff Murray: Isolated Cleft lip / palate: Clinic to Bench and Back
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Last Reviewed: March 2006

See Also:

About Holoprosencephaly

Conference Program

Agenda for Scientific Conference

Conference Goals and Educational Objectives

Travel Information

Conference/Hotel Information

Contact Information

Related Links

Reasonable Accommodation

Official Call for Abstracts