1. Welcome!
Leukodystrophies
October 4-5, 2017
Kansas City, Missouri

2. How does research enhance practice? What future research is needed?
Overarching Goals
How does research enhance practice?
What future research is needed?

3. Objectives neurobiologyofdisease.com Diagnosis Pathogenesis Therapy
Research Directions
Proceedings
neurobiologyofdisease.com

4. “NDC [symposium] is the best soup to nuts on a given topic.”
Story Landis
Day 1 of the Annual CNS Meeting
Highly productive multidisciplinary speakers
Champion for young investigators, women and minorities
Annual podcasts and over 200 peer-reviewed publications
“One of the most valuable—and some years, THE most valuable—learning experience of the entire four-day CNS meeting.”
Roger Larson and Nina Schor

5. NDC 2001 - 2017 What have we learned in 15 years? Leukodystrophies
Neurofibromatosis
2002
Leukodystrophies
Muscular Dystrophy
2009
Tuberous Sclerosis Complex
2003
Cerebrovascular Disease
2010
2004
Rett Syndrome
Childhood Ataxia
2011
2005
Tourette Syndrome
Batten Disease
2012
Spinal Muscular Atrophy
2006
Mitochondrial Diseases
2013
CNS Tumors
2007
2014
Autism Spectrum Disorders
Injury to the Preterm Brain and Cerebral Palsy
2008
2015
Epileptic Encephalopathy
Neurofibromatosis
2016
2017
Leukodystrophies
What have we learned in 15 years?

6. 2002
Several consortia for leukodystrophies established (WLA, LCN/Hunter’s Hope, Others)
1500 Pubmed citations on “leukodystrophy”
Over 40 new leukodystrophies including several new classes of diseases
Improved understanding of the genetics and pathogenesis for development of novel therapies
Successful ex vivo gene therapy for ALD and MLD
Newborn screening implemented for ALD and Krabbe Disease
2017
The Future ??
Correction of a pathogenic gene mutation in human embryos
Ma et al. Nature 548, , 2017

7. THANK YOU!
Co-Directors Drs. Sakku Naidu, Ali Fatemi and Gustavo Maegawa
National Institute of Neurological Disorders and Stroke (NINDS)
Child Neurology Society (CNS)
World Leukodystrophy Alliance (WLA)
Leukodystrophy Care Network –Hunter’s Hope (LCN/Hunter;s Hope)