The Angelman project
PRINCIPAL INVESTIGATOR
Louise Tiranoff, MA
President: Louise Tiranoff Productions, Inc.
GeneticaLens
COLLABORATING INVESTIGATORS
Stephen N. Calculator, Ph.D. Professor and Chair
Dept. of Communication Disorders
University of New Hampshire
Jill Clayton-Smith, M.D. Consultant Clinical Geneticist
University Department of Medical Genetics and Regional Genetic Service, Central Manchester Healthcare Trust, Manchester, U.K.
Susan C. Ferguson, M.Ed.
Information Specialist, Outreach Coordinator
National Information Center for Children and Youth with Disabilities (NICHCY)
Cathy I. Filtz, M.S., Pediatric Physical Therapist
Maryland Infant and Toddlers, Prince George’s County Public Schools
Timothy J. Freeman, Ph.D.
Child Clinical Psychologist, Behavior Analyst
Jill E. Hendrickson, M.S.,
M.S.S.W., Genetic Counselor
PI: Phase 1, The Angelman Project
Women’s and Infants’ Services / Maternal Fetal Medicine, University Medical Center, Jacksonville, FL
H. Terry Hutchison, M.D., Ph.D.
Medical Director, Department of Rehabilitation Services & Department of Neurology
Valley Children’s Hospital, Fresno, CA
Associate Clinical Professor, University of California San Francisco
Joseph Wagstaff, M.D., Ph.D.
Department of Pediatrics and Department of Biochemistry & Molecular Genetics
University of Virginia School Of Medicine, Charlottesville, VA
Charles Williams, M.D.
Associate Professor and
Chief, University of Florida,
College of Medicine,
Division of Genetics
CONTRIBUTORS
Bernard Dan, M.D., Locum Head
Department of Pediatric Neurology, University of Brussels
Steven Alan Katz, M.D.,
Director, Chairman Emergency Dept.
St. Francis Medical Center, Trenton, NJ
Instructor in Surgery (Emergency Medicine), Jefferson Medical College, Philadelphia, PA
Theresa Rebhorn. B.S.W.
Senior Writer / Editor
National Information Center for Children and Youth with Disabilities (NICHCY)
Leigh Sutherland, Director
NBC/WRC-TV Channel 4 Washington D.C., Meet the Press
W. Christopher Taylor, D.D.S.
Specialist in Orthodontics
Charleston, WV
Elaine Whidden, M.S.N.
Nurse Practitioner
Gainesville, FL
STAFF
Louise Tiranoff
Producer/Videographer
Principal Investigator
Anne Molinas
Financial Manager
Lance Tukell
Senior Editor/ Technical Supervisor
Anita Weber
Videographer / Editor
Carla Ruff
Sound Engineer / Editor
Michael Tiranoff
Dan Gabriel
Editor/Associate Producers
Katrina Markel
Kerrie Welsh
Associate Producers
Catherine Calvert
Associate Producer/
Production Manager
Professor Daniel Harvey & Pat Neill
University of California,
San Diego
Gregory Pastores, MD
IRB Chair
New York University
Louise Tiranoff, MA
President: Louise Tiranoff Productions, Inc.
GeneticaLens
COLLABORATING INVESTIGATORS
Stephen N. Calculator, Ph.D. Professor and Chair
Dept. of Communication Disorders
University of New Hampshire
Jill Clayton-Smith, M.D. Consultant Clinical Geneticist
University Department of Medical Genetics and Regional Genetic Service, Central Manchester Healthcare Trust, Manchester, U.K.
Susan C. Ferguson, M.Ed.
Information Specialist, Outreach Coordinator
National Information Center for Children and Youth with Disabilities (NICHCY)
Cathy I. Filtz, M.S., Pediatric Physical Therapist
Maryland Infant and Toddlers, Prince George’s County Public Schools
Timothy J. Freeman, Ph.D.
Child Clinical Psychologist, Behavior Analyst
Jill E. Hendrickson, M.S.,
M.S.S.W., Genetic Counselor
PI: Phase 1, The Angelman Project
Women’s and Infants’ Services / Maternal Fetal Medicine, University Medical Center, Jacksonville, FL
H. Terry Hutchison, M.D., Ph.D.
Medical Director, Department of Rehabilitation Services & Department of Neurology
Valley Children’s Hospital, Fresno, CA
Associate Clinical Professor, University of California San Francisco
Joseph Wagstaff, M.D., Ph.D.
Department of Pediatrics and Department of Biochemistry & Molecular Genetics
University of Virginia School Of Medicine, Charlottesville, VA
Charles Williams, M.D.
Associate Professor and
Chief, University of Florida,
College of Medicine,
Division of Genetics
CONTRIBUTORS
Bernard Dan, M.D., Locum Head
Department of Pediatric Neurology, University of Brussels
Steven Alan Katz, M.D.,
Director, Chairman Emergency Dept.
St. Francis Medical Center, Trenton, NJ
Instructor in Surgery (Emergency Medicine), Jefferson Medical College, Philadelphia, PA
Theresa Rebhorn. B.S.W.
Senior Writer / Editor
National Information Center for Children and Youth with Disabilities (NICHCY)
Leigh Sutherland, Director
NBC/WRC-TV Channel 4 Washington D.C., Meet the Press
W. Christopher Taylor, D.D.S.
Specialist in Orthodontics
Charleston, WV
Elaine Whidden, M.S.N.
Nurse Practitioner
Gainesville, FL
STAFF
Louise Tiranoff
Producer/Videographer
Principal Investigator
Anne Molinas
Financial Manager
Lance Tukell
Senior Editor/ Technical Supervisor
Anita Weber
Videographer / Editor
Carla Ruff
Sound Engineer / Editor
Michael Tiranoff
Dan Gabriel
Editor/Associate Producers
Katrina Markel
Kerrie Welsh
Associate Producers
Catherine Calvert
Associate Producer/
Production Manager
Professor Daniel Harvey & Pat Neill
University of California,
San Diego
Gregory Pastores, MD
IRB Chair
New York University
Well Child lens / asdra
We are grateful for the participation of the following institutions, physicians, and other professionals:
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University of Connecticut
Deborah Fein, Ph.D. Developmental Neuropsychologist Co-Author of the M-Chat Connecticut Children's Medical Center, Hartford, CT Thyde M. Dumont-Mathieu, M.D., M.P.H. Developmental and Behavior Pediatrician, Assistant Professor, University of Connecticut |
Marianne L. Barton, Ph.D.
Associate Clinical Professor, Director, Psychological Services Clinic, Co-Author of the M-CHAT Georgia State University Diana L. Robins, Ph.D. Associate Professor of Psychology and Neuroscience Co-Author of the M-Chat |
Seaver Autism Center, Mount Sinai School of Medicine
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Jeremy M. Silverman, Ph.D.,
Professor, Department of Psychiatry, Director of the Mount Sinai Family Studies Research Center Alexander Kolevzon, M.D. Associate Professor of Psychiatry and Pediatrics, Clinical Director Joseph D. Buxbaum, Ph.D. Professor of Psychiatry, Neuroscience, Genetics, and Genomic Sciences Latha Soorya, Ph.D. Assistant Professor, Department of Psychiatry, Chief Psychologist |
Christopher Smith, Ph.D.
David Grodberg, Ph.D. Assistant Professor of Psychiatry Danielle B. Halpern, Ph.D Assistant Clinical Professor of Psychiatry |
Clinical Research Coordinators
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Rebecca Schulman
Yosefa Ehrlich Lauren Donnelly Anushree Doshi |
Laruen Kryzak
Rachel Lally Research Assistant Janelle Kalir |
Pediatric Clinic, Mount Sinai School of Medicine
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Danielle Laraque, M.D. Chief of General Pediatrics
Romita Almonte, M.D. Erika Bauml, M.D. Annie Bird, M.D. Kanwaljit Chawla, M.D. Sarah Combs, M.D. Sonia Desikan, M.D. Marissa DiGiovine, M.D. Rebecca Farnham, M.D. Joel Forman, M.D. Maida Galvez, M.D. Allison Gault, M.D. Karen Gluck, M.D. Rayna Goldstein, M.D. Celine Hamilton, M.D. Caitlin Hansen, M.D. Illana Harwayne-Gidansky, M.D. Sunpreet Kaur, M.D. Mary Keough, M.D. Orly Klein, M.D. Allison Langs-Barlow, M.D. Meredith MacGregor, M.D. Alefiyah Malban, M.D. Mana Mann, M.D. |
Amir Miodovnik, M.D. Eve Oster, M.D. Leslie Pierce, M.D. Alexandra Shaw, M.D. Perry Sheffield, M.D. Ashley Siems, M.D. Pamela Singer, M.D. Rishi Sood, M.D. James Starc, M.D. Alexandra Stevens, M.D. Haylee Teich, M.D. Julie Uhlman, M.D. Nita Vangeepuram, M.D. Cai Ling Wang, M.D. Chana Weiner, M.D. Lauren Weintraub, M.D. Hilary Wolf, M.D. Nana Akyaa, Technician Patricia Battle, Technician Gloria McPherson, Technician Mariluz Pichardo, Technician Ananias Capistrano, Front Desk |
Steven and Alexandra Cohen Children's Medical Center of New York
Lake Success, New York
Andrew Adesman, M.D.
Chief, Developmental and Behavior Pediatrics
And Staff
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Pediatrics of New York
Erica Landau-Fraenkel, M.D. Mara R. Saideman, M.D. And Staff |
Kids First Pediatrics
Damian Forletti, M.D. Cassandra Kraus, LPN |
Debra Reicher, Ph.D.
Director of Psychological and Social Services
The Hagedorn Little Village School
Director of Neurodevelopmental Diagnostic Center
The Hagedorn Little Village School, Jack Joel Center for Special Children
Affiliate Clinical Professor of Psychology
St. John's University, New York
Connor M. Puleo
4th Year Doctoral Student in the Child and Adolescent Anxiety Disorders Clinic (CAADC) of Temple University
Children’s Center for Early Intervention
Brooklyn, New York
Thomas Gelb, Esq. – Executive Director
Rosa C. Martinez, Ph.D., BCBA – Educational Director
Jeremy H. Greenberg, Ph.D., BCBA – ABA Clinical Supervisor
Amy Sislo – Educational Supervisor, Head Teacher
Sandy Pih, MSED, LMSW – Head Teacher
Erin Bulkley – MSED, BCBA – Educational Supervisor
Kim Heinemann, Teacher
Teaching Assistants
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Elisa Capers
Nichole Della-Pia Karen Reyes Angel Brooks Jessica Anderson Huguette Henao Meghan Deshais |
Shoshana Peterson
Aparna Sinha Casey Chandler-Alexander Cassandra Anello Keniesha Randall Tanya Monplaisir Lina Zhang |
Speech Therapists
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Khalila Ali
Samantha Schupack Michelle Sakhaee |
Ashley Goszczycki
Natalie Romanchukevich Jessica Sanchez |
Occupational Therapists
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Krista Chan
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Alice Tsay
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Children’s Home Intervention Program, Inc. (CHIP)
Staten Island, New York
Lois F. Bond, MA, SAS
Executive Director
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Stamatios "Tommy" Gianoumis, MA, BCBA
Director of ABA Services Kaliope Gianakis, MA Program Coordinator Debbie Pieri, MS ABA Teacher Clover Patch Early Childhood Services Glenville, New York Paula Silliman Director Kim Keane Physical Therapist Christine Lenahan Speech Language Pathologist Mary Jo Czarkowski Special Education Teacher |
Alexandra Couet, MSED
Program Coordinator Georgia Stiponias, MS Program Coordinator Elaine Scott, MS ABA Teacher Katie Reilly Day Care Teacher Kathleen D. Favaloro Teacher Jessica Moehle Teaching Assistant |
YAI
Dr. Bernadette Flynne
Senior Director for the NYL For Early Learning, New York, NY
Carol Stein Schulman
Assistant Director of Education and Training
Maya Goldstein, LCSW
E.I. Service Coordinator
The William O’Connor Schools, Brooklyn, New York
Elise Vetere, PhD ABSNP
Director/Licensed Psychologist
Early Start
Brooklyn, New York
Dr. Bernadette Flynne
Senior Director for the NYL For Early Learning, New York, NY
Carol Stein Schulman
Assistant Director of Education and Training
Maya Goldstein, LCSW
E.I. Service Coordinator
The William O’Connor Schools, Brooklyn, New York
Elise Vetere, PhD ABSNP
Director/Licensed Psychologist
Early Start
Brooklyn, New York
We also give special thanks to:
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Judith A. McCarty, PhD.
Jon Gardiner Clinical Consultant ABA Therapists Erin Beatty Erin Klepp Christine Bradley Dana Pinto Michelle Reynolds Rosemary Ross Marie Simms Karen Storminger Sabrina Sutton Marry Anne Liotta, Speech Therapist Anne-Louise Wissinger, Floor Time Therapist Lauren Grimaldi Felicia Pecorelli Kim Rozzi Deirdre Wells |
Speech Language Pathologists Robert Gabelman, MS, CCE Jennifer Gates, MEd, CCP/SLP Christine Horowitz, MA CCC/SLP Rea Morris, CCC/SLP Kim Marino Occupational Therapists Debi Blitz Colleen Lafferty Sue Ann Maloy, RDI Therapist Tia Marie Smith Bob Rozzi Leigh Sutherland |
Music Credits
Heidenroslein
The Dusty Miller
C. 1996 Peter Barnes, Earl Gaddis, Mary Lea and Jacqueline Schwab (BMI).
Published by Earl Gaddis Music (BMI)
Thank you to Participants, Families, and Friends. Observations made by parents or grandparents are critical when a child is first brought in for medical attention. Often it is the family's efforts and persistence that help push forward a possible earlier diagnosis and new research.
Special thanks to all the participants, their families, and friends, who so graciously contributed.
Grant #2R44NS053046-04
Special thanks to all the participants, their families, and friends, who so graciously contributed.
Grant #2R44NS053046-04
MPS I
Co-Principal Investigators
Gregory Pastores, M.D.
Louise Tiranoff, Ph.D.
Produced, Directed, & Photographed by
Louise Tiranoff
Edited by
Carla Ruff
Michael Tiranoff
Additional Editing
Ralph Favilla
Sara Vasiliou
Sound Mix
Sara Vasiliou
Sound Recordists
Ralph Favilla
John Gilmartin
Roy Marasigan
Carla Ruff
Production Manager
Deirdre Wells
Financial Manager
Marilyn Bloom
Special Thanks To:
Thomas Klugh
Coordinator, PFT Lab
NYU School of Medicine
Guy Baptiste
Clinical Technologist, PFT Lab
NYU School of Medicine
The National MPS Society
Barbara Wedehase, Executive Director
Joyce Fox, M.D.
Chief, Division of Medical Genetics
Schneider Children's Hospital
Professor of Clinical Pediatrics
Mike Almedia
Principal, Riverside Middle School
Natalie Barnett, PhD
Clinical Trials Coordinator
The NYU School of Medicine, Neurogenetics Unit
Bai-jin Zeng, M.D.
Research Scientist
The NYU School of Medicine, Neurogenetics Unit
Paola Torres,
Research Scientist
The NYU School of Medicine, Neurogenetics Unit
Also Thanks To:
Michele Ford,
Program Coordinator
The NYU School of Medicine, Neurogenetics Unit
Robert M. Greenstein, M.D.,
Director, Division of Human Genetics
Connecticut Children's Medical Center
Martha D. Delaney
Pre-school Educational Consultant
Ct. Services of the Blind
Kenneth I. Berger, M.D.
Assistant Professor of Medicine & Physiology & Neuroscience
NYU School of Medicine
David M. Rapoport, M.D.
Medical Director of the Sleep Disorders Center
NYU School of Medicine
Ira Rashbaum, M.D.
Clinical Assistant Professor
NYU School of Medicine & The Rusk Institute
Gustavo Charria, M.D.
Pediatric Neurologist
Instructor in Neurology & Pediatrics
NYU School of Medicine
Gregory M. Pastores, M.D.
Associate Professor of Neurology & Pediatrics
Department of Neurology & Pediatrics
Director of the Neurogenetics Lab
NYU School of Medicine
Edwin H. Kolodny, M.D.
Bernard A. & Charlotte Marden Professor of Neurology
Chairmen of the Department of Neurology
NYU School of Medicine
Genzyme
Special thanks to all the subjects and their friends and families who so graciously contributed their time as well as home videos and photographs. Without them, this effort would not be possible.
Gregory Pastores, M.D.
Louise Tiranoff, Ph.D.
Produced, Directed, & Photographed by
Louise Tiranoff
Edited by
Carla Ruff
Michael Tiranoff
Additional Editing
Ralph Favilla
Sara Vasiliou
Sound Mix
Sara Vasiliou
Sound Recordists
Ralph Favilla
John Gilmartin
Roy Marasigan
Carla Ruff
Production Manager
Deirdre Wells
Financial Manager
Marilyn Bloom
Special Thanks To:
Thomas Klugh
Coordinator, PFT Lab
NYU School of Medicine
Guy Baptiste
Clinical Technologist, PFT Lab
NYU School of Medicine
The National MPS Society
Barbara Wedehase, Executive Director
Joyce Fox, M.D.
Chief, Division of Medical Genetics
Schneider Children's Hospital
Professor of Clinical Pediatrics
Mike Almedia
Principal, Riverside Middle School
Natalie Barnett, PhD
Clinical Trials Coordinator
The NYU School of Medicine, Neurogenetics Unit
Bai-jin Zeng, M.D.
Research Scientist
The NYU School of Medicine, Neurogenetics Unit
Paola Torres,
Research Scientist
The NYU School of Medicine, Neurogenetics Unit
Also Thanks To:
Michele Ford,
Program Coordinator
The NYU School of Medicine, Neurogenetics Unit
Robert M. Greenstein, M.D.,
Director, Division of Human Genetics
Connecticut Children's Medical Center
Martha D. Delaney
Pre-school Educational Consultant
Ct. Services of the Blind
Kenneth I. Berger, M.D.
Assistant Professor of Medicine & Physiology & Neuroscience
NYU School of Medicine
David M. Rapoport, M.D.
Medical Director of the Sleep Disorders Center
NYU School of Medicine
Ira Rashbaum, M.D.
Clinical Assistant Professor
NYU School of Medicine & The Rusk Institute
Gustavo Charria, M.D.
Pediatric Neurologist
Instructor in Neurology & Pediatrics
NYU School of Medicine
Gregory M. Pastores, M.D.
Associate Professor of Neurology & Pediatrics
Department of Neurology & Pediatrics
Director of the Neurogenetics Lab
NYU School of Medicine
Edwin H. Kolodny, M.D.
Bernard A. & Charlotte Marden Professor of Neurology
Chairmen of the Department of Neurology
NYU School of Medicine
Genzyme
Special thanks to all the subjects and their friends and families who so graciously contributed their time as well as home videos and photographs. Without them, this effort would not be possible.
MPS II
Co-Principal Investigators
Gregory Pastores, MD
Louise Tiranoff, PhD
Produced and Directed by
Louise Tiranoff
Associate Producer, Researcher
Jamie Taratoot
Cinematography
Louise Tiranoff
Sound
Kerrie Welsh
Christer Gomes
Editing
Christer Gomes
Michael Tiranoff
Additional Camera
Christine Peng
Sound Mixing and Color Correction
Christer Gomes
Financial Managers
Marilyn Eisele Bloom
Ralph Favilla
Participating Experts:
Gregory Pastores
Sally Rosengren
Jennifer Ibrahim
Christina Flora
Alfred Grant
Mary-Lynn Y. Chu
Ronald Moskovich
John Pappas
David Rapoport
Swati Sathe
Paola Torres
Bai-Jin Zeng
Rakhil Kanevaskaya
Natasha Imai
Alesandra Helwig
Leslie Worona
Barbara Wojtal
Joseph Tucker
Jayne Donovan
Ellen Moran
Thank you to:
Irma Almonte, NYU
Marissa Ferraris, NYU
Barbara Wedehase MPS Society
Nicole Rojas Shire
Dawn Checrallals
Jason’s Band
Earl Gaddis
Translations
Shih Pin Hwang
Audrey and Paul
Marta Castro
Gregory Pastores, MD
Louise Tiranoff, PhD
Produced and Directed by
Louise Tiranoff
Associate Producer, Researcher
Jamie Taratoot
Cinematography
Louise Tiranoff
Sound
Kerrie Welsh
Christer Gomes
Editing
Christer Gomes
Michael Tiranoff
Additional Camera
Christine Peng
Sound Mixing and Color Correction
Christer Gomes
Financial Managers
Marilyn Eisele Bloom
Ralph Favilla
Participating Experts:
Gregory Pastores
Sally Rosengren
Jennifer Ibrahim
Christina Flora
Alfred Grant
Mary-Lynn Y. Chu
Ronald Moskovich
John Pappas
David Rapoport
Swati Sathe
Paola Torres
Bai-Jin Zeng
Rakhil Kanevaskaya
Natasha Imai
Alesandra Helwig
Leslie Worona
Barbara Wojtal
Joseph Tucker
Jayne Donovan
Ellen Moran
Thank you to:
Irma Almonte, NYU
Marissa Ferraris, NYU
Barbara Wedehase MPS Society
Nicole Rojas Shire
Dawn Checrallals
Jason’s Band
Earl Gaddis
Translations
Shih Pin Hwang
Audrey and Paul
Marta Castro
Gaucher's DISEASE
Neurological Assessment in Gaucher Disease
Gaucher Registry International Collaborative Gaucher Group (ICGG)
Presented and Narrated by
Edwin Kolodny, MD, FAAN, FACMG
Gregory Pastores, MD
Reviewer
Developed by GeneticaLens
Louise Tiranoff, PhD
Producer/Videographer
Sponsored by
Genzyme Corporation
Betsy Bogard, Project Manager, Global Registry Programs
c. January, 2007 Tiranoff Productions LLC
Gaucher Registry International Collaborative Gaucher Group (ICGG)
Presented and Narrated by
Edwin Kolodny, MD, FAAN, FACMG
Gregory Pastores, MD
Reviewer
Developed by GeneticaLens
Louise Tiranoff, PhD
Producer/Videographer
Sponsored by
Genzyme Corporation
Betsy Bogard, Project Manager, Global Registry Programs
c. January, 2007 Tiranoff Productions LLC
THE HOPE SCENARIOS
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"What If?"
Directed by Louise Tiranoff Produced by Lynne McVeigh Starring Stephanie Kavasansky as Dr. Jenny Scarlatti Tommy Ge as Tommy Lee Epiphany Samuels as Savannah Gabriel Fiona Hall as Dr. Elizabeth Philips Kemiah Lyte as Kemiah Nia Gomez as Nia Matthew Poltorak as Patrick Murphey Carter E. Glace as Bob Bailey Riter as Louis Vargas Giovanna Drummond as Maya Rodriguez Maddie Shaw as Maddie Samantha Myers as Samantha Beverly Johnson as Herself Trent Johnson as Himself Troy Johnson as Himself Tameka Johnson as Herself Shira Strongin as Herself Production Manager Cole Bannick Director of Photography Elena Brosseau 2nd Unit Director of Photography Eli Sands Camera Operators Katherine Watts Margall Caroline Ratliff Wang Gaffer Ryan Taylor Brideau Sound Mixer Peem Teerawanichpol Boom Operators Isabel Guarnieri Elizabeth Rakhilkina Cha Patra-Yanan Production Designer Laine Elliot Art Assistants Liz Longo Maxx Evan Costume Designer Hanne Whitfield Costume Coordinator Christina Trivigno Script Supervisor Hannah Garcia Production Assistant Carter E. Glace Location Supervisor Zul Atmosudirdjo Catering Supervisor Sophie Bennett Editor & Sound Editor Eli Sands Additional Editing Cole Bannick Andrew Guidone Original Score Eli Sands "We Are The Fearless Theater Company" Song Written & Recorded by Ralph Favilla Featuring Keyboards by Ayako Shirasaki |
The Hope Scenarios Web Series
Directed by Louise Tiranoff Produced by Lynne McVeigh Featuring Epiphany Samuels Samantha Myers with Faye Ginsburg, David B. Kriser Professor of Anthropology at New York University Dr. Horacio Kaufmann, Director of the Dysautonomia Center at NYU Langone Health Dr. Lucy Norcliffe-Kaufmann, Associate Director of the Dysautonomia Center at NYU Langone Health Ginger Davis, Health Advocate, Chair of NAACP Brooklyn Branch Health Committee Gloria Rochester, Founder of Queens Sickle Cell Advocacy Network Cassandra Dobson, Associate Professor at Lehman College Dorothy Cudjoe, Epiphany's Friend Production Manager Carter E. Glace Director of Photography Elena Brosseau Assistant Camera Kaylee Scinto Videographer Adam DeSantes Sound Mixer Amelia Palmer Editors Eli Sands Adam DeSantes Catering Supervisor Sophie Bennett Board Member Matthew Poltorak Consultant Julia Cass Accountant Ralph Favilla |
