SPINA BIFIDA SEQUENCING CONSORTIUM

With advances in genome analysis and the decreasing cost of next generation sequencing, it is now within our reach to fully describe the genetic etiology of many diseases. As one of the most common birth defects, spina bifida is a natural target for study.

The Consortium brings together independent research groups to work toward a common goal: solving the genetics of spina bifida.

Our approach of collaboration allows us to pool patient cohorts, not only improving the power of each study but additionally diversifying the ethnic makeup of the subject group, broadening the scope of our findings. Shared expertise among collaborators thoroughly validates our analysis and results. The Gleeson Lab brings great clinical genetic expertise to the table, with many gene discoveries made in developmental neurological disorders. The Gleeson Lab also has the computational resources in place to host and transform large datasets. Other contributors offer expertise in multifactorial and polygenic analytic methods. Lastly, the Consortium provides funding for sequencing historically consented subjects whose data are not eligible to be included in public repositories, so that researchers may privately share data for these precious samples.

MEMBERS

• Dr. Joseph Gleeson, MD (UC San Diego)
• Dr. Allison Elizabeth Ashley Koch, PhD (Duke University)
  
• Dr. Kit Sing Au, PhD and Dr. Hope Northrup, MD (University of Texas, Houston)
  
• Dr. Gyang Markus Bot, MD (Jos University Teaching Hospital, Jos, Nigeria)
  
• Dr. Richard H. Finnell, PhD, DABMGG (Baylor College of Medicine)
  
• Dr. Zoha Kibar, PhD (Université de Montréal, Canada)
  
• Dr. Philip J. Lupo, PhD, MPH (Baylor College of Medicine)
  
• Dr. Helio R. Machado, MD (University of Sao Paulo, Brazil)
  
• Dr. Tony Magana, MD (Mekelle University, Mekelle, Ethiopia)
  
• Dr. Rony Marwan, MD (University of Colorado)
  
• Dr. Gia Melikishvili, MD (MediClub Georgia, T'bilisi, Georgia)
  
• Dr. Osvaldo M. Mutchinick, MD, PhD (Salvador Zubirán National Institute of Health Sciences and Nutrition, Mexico City, Mexico)
  
• Dr. Roger E. Stevenson, MD (Greenwood Genetic Center)
  
• Dr. Anna Yurrita, MD (Francisco Marroquín University, Guatemala City, Guatemala)
  
• Dr. Maha S. Zaki, MD, PhD (National Research Center, Cairo, Egypt)
  
• Dr. Sara Mumtaz, PhD (National University of Medical Sciences, Rawalpindi, Pakistan)
  
• Dr. José Ramón Medina-Bereciartu, MD (Venezuela Association of Spina Bifida, Caracas, Venezuela)
• Dr. Friedhelm Hildebrandt (Boston Children's Hospital, Harvard Medical School)
• Dr. Mahmoud M. Noureldeen, MD and Dr. Aida MS. Salem, MD (Beni-Suef University, Beni-Suef, Egypt)
• Dr. Tinatin Tkemaladze, MD, (Tbilisi State Medical University, Tblisi, Georgia)
• Dr. Salman Kirmani, MBBS, DABMGG, DABP, (Associate Professor & Chair, Division of Women & Child Health, Aga Khan University, Pakistan)
• H. Westley Phillips, MD (Assistant Professor of Neurosurgery- Pediatric Neurosurgery, Stanford, CA)
• Bülent Kara, MD, (Pediatrics Neurology, Neurology, Izmit (Kocaeli), Turkey)
• Dr. Ayfer Sakarya Güneş, MD, (Faculty of Medicine, Internal Medicine, Kocaeli University, Turkey)
• Dr. David D. Gonda, M.D. (Director of Epilepsy Surgery at Rady Children's Hospital-San Diego)
• Dr. Brian Hanak, MD, (Neurosurgery, CHOC Hospital, Orange County, California)