Weekly Webinar Series. Mondays April 4th, April 11th, April 25th and Tuesday, April 26thth 2022.
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April 4th. 2.00-5.00 pm: Living with Rare
2.00 - 2.10.pm. Welcome. Dr. Kasturi Haldar, Director, CRND.
2.10 - 3.10 pm. Panel I. Public Policies of, by and for Rare Disease Communities.
Chair & Moderator. Adviti Bali ND 23. President Club RareND
Panelists. Megan Crowley ND ’19; Frances Fitzgerald ND’18, Gabe Donavan; Annie Hamilton ND ’26
3.10 - 3.30 pm. Panel II. Megan K. Crowley Award for Patient Advocacy.
John M. and Mary Jo Boler Rare Disease Research Award.
Award Presenter; Megan Crowley ND ’19.
Awardees; Adviti Bali ND ’23; Camey Calzolano ND ’22; Bailey Perczak ND ’22.
Break 3.30 -3.45 pm.
3.50 -4.50 pm. Panel III. Know the Glow. Preventing Childhood Blindness.
Chair & Moderator Megan Webber ND’90 Know the Glow.
Panelists. Megan Webber ND’90; Adviti Bali ND ’23; Camey Calzolano ND ’22; Bailey Perczak ND ’22.
April 11th. 2.00-5.00 pm: Neurometabolic disorder, Non Ketotic Hyperglycinemia (NKH).
2.00-2.05 pm. Chair and Moderator. Dr. Rebecca Wingert, Elizabeth and Michael Gallagher Associate Professor.
2.05-2.45 pm. Patient Leadership Panel I. Patrick and Michelle Sarb (ND-NKH); Kristin Archibald (NKH Crusaders); Chancee Culp (Lucas John Foundation); Heidi Leslie (Brodyn’s Friends); Joe Urban.
2.45-3.10 pm Research Update I. Dr. Rebecca Wingert & Nicole Weaver
Developmental Effects of Elevated Glycine on NKH
Break. 3.10-3.25 pm
3.25-4.00 pm. Research Update II. Alejandro Lopez Ramirez, Caroline Bickerton,
Adviti Bali. NKH Mouse models, genetic and metabolic therapies.
4.00-4.40 pm Patient Leadership Panel II. Amanda Almany (Nora Jane Foundation); Tom Swoboda (John Thomas Foundation); Mary Fitzpatrick (Fighting for Fiona and Friends); Morgan Schmitz; Ed Thigpen; Cynthia Graham.
4.40-5.00 pm. Research Update III. Dr. Johan Van Hove. Professor Pediatrics, Clinical Genetics and Metabolism, University of Colorado.
April 18th. Easter Break
April 25th . 2.00-5.00 pm: Intellectual Disability
Chair and Moderator. Dr. Jacqueline Harris, Director, Epigenetics Clinic at Kennedy Krieger Institute; Assistant Professor of Pediatrics, Neurology and Genetics. The Johns Hopkins University School of Medicine.
2.00-2.30 pm. Dr. Jacqueline Harris Kabuki syndrome: Designing clinical outcome measures and clinical trials for a potentially treatable cause of intellectual disability
2.30-3.00 pm Dr. Elizabeth Berry-Kravis. Co-Director, Genetic Laboratory. Professor, Department of Pediatrics, Rush University Medical Center. Reversal of Genetic Intellectual Disability: Angelman Syndrome and Beyond.
Break. 3.00-3.15 pm
3.15-4.00 pm Patient Leadership Panel. Kabuki Syndrome
Janet Lee, Rene King, Annie Dean Zaitzef, Leila Zegna, Jennifer Mantey Goldsmith, Amanda Gamboa.
4.00-4.30 pm Dr. Prasad Padmanabhan and Ryan McArdle, Notre Dame. Long-term stimulation of post-natal neurogenesis in a mouse model of Kabuki Syndrome
4.30-5.00 pm. Dr. Chris Patzke John M. and Mary Jo Boler Assistant Professor, Notre Dame. Human Neurons as Tool for Dissecting of Intellectual Disability Disease Pathology Mechanisms in Autism Spectrum Disorders
April 26th. Rare Tumors
Chair and Moderator. Dr. Xin Lu
2:00 - 3:45pm Von Hippel Lindau Syndrome
2:00 - 2:20pm Dr. Zach Schafer.
VHL disease and iron metabolism
2:20 - 2:45pm Dr. Xin Lu.
VHL disease: Models and molecular mechanisms
2:45 - 3:05pm Sean Murphy.
Killing VHL tumors with Keto
3:05 - 3:30pm Chris Kiergan.
VHL disease from a patient’s perspective
3:30 - 3:45pm Q&A
3:45 - 4:00pm Break
4.00 - 5-00 pm. Patient Panel: Rare Diseases in our community.
Neurofribromatosis 1
Maureen O’brien
Nicole Sevison
Neurodevelopmental Disorders
David Faverty
Sarah Snyder
Connective Tissue Disorder
Melissa Kern