Believe In Tomorrow ONTARIO RETT SYNDROME ASSOCIATION 2018 CONFERENCE
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Believe In Tomorrow
ONTARIO RETT SYNDROME ASSOCIATION 2018 CONFERENCE
April 13, 14 & 15, 2018
HE L PI NG FAMILIES & IN D IV ID UA LS WI T H
RETT SY NDROME FOR 27 YEA RS
MESSAGE FRO M
OUR MISSION
The Ontario Rett Syndrome Association (O.R.S.A.) exsists to ensure that children and adults with
Rett Syndrome are enabled to achieve their full potential and enjoy the highest quality of life
within their community.
www.rett.ca
Conference Sponsors:
The Edwards Family Charitable Foundation
Ontario Brain Institute
1
THE CHAIR 2
“BELIEVE IN TOMORROW” – The Ontario Rett Syndrome Association’s 2018 conference extraordinaire.
Twenty-eight (28) guest speakers in total! Fourteen (14) of which are Clinicians, some of those clinicians
are also Researchers. Seven basic Scientists added to the mix. Topped up with two (2) newcomers
from Literacy and Communications, that have never presented at an O.R.S.A. conference. We are so
excited to welcome all our speakers, past and new, to this year’s Believe In Tomorrow Conference and
to our growing O.R.S.A. family.
Complexity is often used to describe Rett syndrome. Based on all complexities, this conference has
brought together enough knowledge to assist you while you navigate your journey. The conference
will help you to understand you are not alone. With every question there should be an answer. For
the novice to the most seasoned individual this conference has something for you. Attending this
conference may open your mind to things you may not have considered. The latest research updates,
both Canadian and International Clinic Trial information will be shared, literacy techniques, adulthood
living, sustaining your future and so much more!
Alone we can do so little, together we can do so much
Helen Keller
Please join us in April at the 2018 conference because we all should “Believe In Tomorrow”.
Sherry Lawrence
Conference Chair
CONFERENCE
April 12 – Thursday Evening
6:00 – 8:00 p.m. Early Registration
April 13 – Friday
Research Day:
8:00 – 8:30 a.m. Registration
8:30 – 8:45 a.m. Welcome
8:45 – 9:30 a.m. Genetics 101: DR. VICKY SIU and DR. PATRICK MACLEOD
9:30 – 10:15 a.m. Research Updates: DRS. JAMES EUBANKS, JOHN VINCENT, JAMES ELLIS
10:15 – 10:30 a.m. Break
10:30 – 11:30 a.m. Research Updates: DRS. MONICA JUSTICE, JASON LERCH, DAVID KATZ
11:30 – 12:00 p.m. Question Panel – moderated by DR. MACLEOD
12:00 – 1:00 p.m. Lunch
1:00 – 1:15 p.m. Post-Mortem Brain Donation Protocol: DR. PATRICK MACLEOD
1:15 – 1:45 p.m. 2017 Research Grant Recipients: DR. DAVID GRYNSPAN & DR. SARAH SCHOCK
1:45 – 2:15 p.m. Natural History Study: DR. ALAN PERCY
2:15 – 2:30 p.m. Break
2:30 – 3:00 p.m. International Clinical Trials: DR. JEFFREY NEUL
3:00 – 3:15 p.m. Top 10 Priorities for Neurodevelopmental Disorders in Ontario
3:15 – 4:00 p.m. Clinical Trials in Canada: DR. EVDOKIA ANAGNOSTOU
4:00 – 4:30 p.m. Question Panel - moderated by DR. MACLEOD
Please Note: Friday dinner is not provided as part of the conference package. There are two restaurants on site.
Family Social Night 7:30 – 9:00 p.m.
This optional event is designed for families of someone with Rett syndrome, but everyone is welcome to join us! Check out our
Rett syndrome trivia game. Guess the number of “chromosomes” in the jar. Get to know other families who live near you or who
have children around the same age. Find out about the best ways to stay connected between conferences. This is a very low-key
gathering. Feel free to drop in!
April 14 – Saturday
3
Medical Management:
8:30 – 9:00 a.m. Medical Surveillance Guidelines for Rett Syndrome: DR. MELISSA CARTER
9:00 – 9:30 a.m. Management of Seizures: DR. ERICK SELL
9:30 – 10:00 a.m. Gastrointestinal Problems in Rett Syndrome: DR. KEVIN BAX
AGENDA 4
10:00 – 10:15 a.m. Break
10:15 – 10:45 a.m. Musculoskeletal Considerations in Rett Syndrome: DR. CAITLIN CASSIDY
10:45 – 11:15 a.m. Complex Care Plans: ERIN BRANDON AND NANCY CAMPBELL
11:15 – 12:00 p.m. Question Panel – Several doctors will be available to answer your questions.
12:00 – 1:00 p.m. Lunch
Trillium B Trillium C
1:00 – 1:45 p.m. Celebrating Progress: Look Who’s Talking! Adult Medical Issues
Parent reflections on communication JANE LANE, DR. CAITLIN CASSIDY
JENNIFER FACCHINELLI, KAREN CONGRAM
1:45 – 2:30 p.m. “Motivate, Model, Move Out of the Way!” My Direct Plan: Funding Management for Passport,
Strategies to Overcome Apraxia Residential and Special Services at Home
KATE AHERN HASSNANE SAJAN
2:30 – 2:45 p.m. Break
2:45 – 3:30 p.m. Aided Language Input Made Easy - Strive For Five! Organizing Support for the Adult Years:
DR. CAROLINE MUSSELWHITE Parent reflections on a meaningful lifestyle
TERRY BOYD, SHERRY LAWRENCE
3:30 – 4:15 p.m. Tips and Tricks for AAC Programming Breathing Problems in Rett Syndrome
TOBII DYNAVOX REPRESENTATIVE DR. JACKIE CHIANG
Celebration Dinner
5:30 – 6:30 p.m. Reception, Group Photo
6:30 – 9:00 p.m. Dinner, Awards & Tributes
9:00 – 11:00 p.m. Hospitality Room Open
April 15 – Sunday
Concurrent Session:
Trillium B Trillium C
8:30 – 10:00 a.m. AAC Interaction During Shared Reading Sustaining your Future:
DR. CAROLINE MUSSELWHITE Person-Centred Planning and Microboards
(Double Session) BRENDON POORAN, PARTNERS FOR PLANNING
10:00 – 10:15 a.m. Break
10:15 – 11:00 a.m. Expectations without Demands: Consent, Capacity & Legal Decision- Making
An Apraxia-sensitive approach to BRENDON POORAN, PARTNERS FOR PLANNING
communication goals
KATE AHERN
11:00 – 11:45 a.m. All She Wants is TV! Strategies to Manage Mental Fitness: Applying mindfulness to
Screen Addiction decrease stress and increase happiness
KATE AHERN ELLI WEISBAUM
11:45 – 12:00 p.m. Final Remarks and Conference Feedback Forms
12:00 p.m. Lunch and Goodbye
Kate Ahern is an assis,ve technology specialist and a teacher of
learners with mul,ple or significant special needs. She has a
5 SPEAKER
Masters of Educa,on in Intensive Special Needs. She comes to us
with years of teaching experience with all age groups and in
various seAngs in MassachuseBs. Kate is passionate about
helping nonverbal students reach their communica,on poten,al
through the use of augmenta,ve and alterna,ve communica,on
(AAC). She currently works in private prac,ce, consul,ng in
schools and homes, developing and leading AAC groups and
tutoring individuals in literacy and communica,on.
!
Kate Ahern
Kate Ahern is an assis,ve technology specialist and a teacher of
learners with mul,ple or significant special needs. She has a Dr. Evdokia Anagnostou, MD, is a child neurologist and senior
KATEof Educa,on
Masters AHERN,in IntensiveisSpecial
anNeeds. assistive
She comes to us DR. scien,st
clinician EVDOKIA ANAGNOSTOU,
at Holland Bloorview Kids Rehabilita,on
technology
with specialist
years of teaching andall age
experience with a teacher
groups and in MD, Dr.
Hospital. is Anagnostou
a child is also neurologist
the Assistant Directorandof Holland
Bloorview's Research Ins,tute;
senior clinician co-leadingat
scientist the Holland
Au,sm Research
of learners
various seAngs in with multiple
MassachuseBs. Kateor significant
is passionate about
helping nonverbal students reach theiracommunica,on poten,al Centre (ARC). Dr. Anagnostou holds a Canada Research Chair in
special needs. She has Masters of Bloorview Kids Rehabilitation Hospital.
transla,onal therapeu,cs in Au,sm Spectrum Disorder (ASD) and
through the use of augmenta,ve and alterna,ve communica,on
Education in Intensive Special Needs. Dr.Dr. Anagnostou
the Stuart D. Sims Chairisin Au,sm
also atthe Assistant
Holland Bloorview. Her
(AAC). She currently works in private prac,ce, consul,ng in Dr. Kevin focuses
Bax, MD,onjoined the Department of Paediatrics at the
She comes
schools and homes,todeveloping
us with andyears of teaching
leading AAC groups and Director
research of Holland
transla,ng genomic andBloorview’s
systems biology
Children’s Hospital London Health Sciences
She in 2009. anHe was born
experience
tutoring individualswith all age
in literacy groups and in
and communica,on. Research
findings into novelInstitute;
treatments forco-leading
ASD. is also the
associate
in Thunder Bay, Ontario.
professor He moved to Michigan to completeofhis
various settings in Massachusetts. Kate Autismin theResearch
undergraduate
department
training
of pediatrics
Centre
at Calvinwith
College,
at the(ARC).
Grand
University
Rapids,
Toronto, which is fully affiliated Holland Bloorview.
is passionate about helping nonverbal Dr. Anagnostou
Michigan. He then graduatedholds a University
from Indiana Canada School of
! !
students reach their communication Research
Medicine. He servedChair
as paediatricinresident,
translational
as well as a paediatric
potential
Kate Ahern through the use of augmentative and alternative therapeutics
Evdokia gastroenterology
Anagnostouin Autism Spectrum fellow at James Whitcomb
Disorder (ASD) RileyandHospital
the for
Children. Dr. Bax is part of the ReB syndrome clinic located at
communication (AAC). She currently works in private Dr. Stuart D. Sims Chair in Autism at Holland Bloorview.
Dr. Evdokia Anagnostou, MD, is a child neurologist and senior Thames Valley Children’s Centre in London, Ontario.
practice, consulting in schools and homes, developing Her research focuses on translating genomic and systems
clinician scien,st at Holland Bloorview Kids Rehabilita,on
Hospital. Dr. Anagnostou is also the Assistant Director of Hollandbiology findings into novel treatments for ASD. She is also
and leading AAC groups and tutoring individuals in literacy
and communication. Bloorview's Research Ins,tute; co-leading the Au,sm Research !an associate professor in the department of pediatrics
Centre (ARC). Dr. Anagnostou holds a Canada Research Chair in at the University of Toronto, which is fully affiliated with
transla,onal therapeu,cs in Au,sm Spectrum Disorder (ASD) and Kevin Bax
Holland Bloorview.
the Dr. Stuart D. Sims Chair in Au,sm at Holland Bloorview. Her
research
Dr. Kevin focuses
Bax, MD,onjoined
transla,ng genomic and
the Department systems biology
of Paediatrics at the Terry Boyd has years of experience volunteering and advoca,ng
DR. into
findings
Children’sKEVIN
Hospital BAX,
novel treatments
London forMD,
Health ASD. joined
She
Sciences is also
in 2009. the
anHeassociate
was born inTERRY BOYD,
the field of has years
developmental of experience
disabili,es.
professor
ThunderinBay,
the Ontario.
department of pediatrics at the to
University
in
Department ofHePaediatrics
moved to Michigan at the ofhis
complete She’s held numerous board
volunteering and and commiBee posi,ons
advocating with
in the
Toronto, which is
undergraduate fully affiliated
training at Calvinwith Holland
College, GrandBloorview.
Rapids, Community Living, the Ministry of Community & Social Services
Children’s Hospital London Health
Michigan. He then graduated from Indiana University School of
field of developmental disabilities.
! (MCSS) and the Ministry of Health (MOH). Many will know Terry
Sciences
Medicine. in as
He served 2009. Heresident,
paediatric was asborn well as ain
paediatric asShe’s
the formerheld
presidentnumerous
of the Ontario ReB boardSyndrome and
Evdokia Anagnostou Thunder Bay,
gastroenterology fellow atOntario.
James Whitcomb He Rileymoved
Hospital for committee
Associa,on. positions
Terry and her husband, withDean Community
have three children.
to Michigan
Children. to ReB complete
Dr. Bax is part of the his at
syndrome clinic located Erin
The Brandonthe
Living,
youngest, RN (EC), MN
Ministry
Kayleigh, is the
is 30 of
yearsPaediatric
and Nurse
Community
old Prac,,oner
has ReB & at
syndrome.
Thames Valley Children’s Centre in London, the Holland Bloorview Kids isRehabilita,on Hospital Complex Care
undergraduate training atOntario.
Calvin Kayleigh
Social
Neuromotor
lives at home and
Services
& ReB
(MCSS)
Syndrome
supported
and
Clinics.
by her Ministry
the parents and peer
staffing who are funded by MOH HomeShe hasProgram
Care exper,seandand
MCSS
College, Grand Rapids, Michigan. of Health
professional (MOH).
interest in the Many
medical will knowofTerry
management children with
Passport Program. Kayleigh lives a full life volunteering, enjoying
!
He then graduated from Indiana ! as experiences
medical
new the former
complexity. president
andErin will beher
direc,ng of living.
the two
co-presen,ng
daily Ontario
sessions with
University School of Medicine. He RettCampbell:
Nancy Syndrome “Complex Association.
Care Plans” andTerry “Keepingand
Fun on the
served
Kevin Bax as paediatric resident, as well as a paediatric her Boyd
Terry husband, DeanAgenda”.
have three children. The youngest,
gastroenterology fellow at James Whitcomb Riley Hospital Kayleigh, is 30 years old and has Rett syndrome. Kayleigh
TerryisBoyd
for Children. Dr. Bax parthas of
yearsthe
of experience volunteering and
Rett syndrome advoca,nglives at home and is supported by her parents and peer
clinic
located at Thamesin the field of developmental disabili,es.
Valley Children’s Centre in London, staffing who are funded by MOH Home Care Program
She’s held numerous board and commiBee posi,ons with
Ontario. Community Living, the Ministry of Community & Social Services and MCSS Passport Program. Kayleigh lives a full life
!
(MCSS) and the Ministry of Health (MOH). Many will know Terryvolunteering, enjoying new experiences and directing her
Erin Brandon
as the former president of the Ontario ReB Syndrome daily living.
Associa,on. Terry and her husband, Dean have three children.
Erin Brandon RN
The youngest, (EC), MN
Kayleigh, is the
is 30 Paediatric
years old and Nurse Prac,,oner
has ReB syndrome.at Nancy Campbell, RPN, is a Registered Prac,cal Nurse at Holland
ERIN
the Holland
Kayleigh BRANDON,
Bloorview
lives RN (EC),
Kids isRehabilita,on
at home and supported MN
byHospital
her isComplex
parentsthe Care
and peer NANCY
Bloorview CAMPBELL,
Kids Rehabilita,on is a
Hospital. SheRegistered
is the ReB Syndrome
Neuromotor
Paediatric
staffing & ReB
who are Syndrome
Nurse
funded Clinics.
HomeShe
Practitioner
by MOH hasProgram
Care exper,se
at the and
and MCSS Clinic’s nurse coordinator.
Practical Nurse at This Holland
clinic provides comprehensive
Bloorview
professional
Passport interest
Program. in the medical
Kayleigh lives management
a full of children
life volunteering, with
enjoying medical
Holland Bloorview Kids Rehabilitation Kids care and care coordina,on
Rehabilitation for individuals
Hospital. Shewith ReB
is
! medical complexity.
new experiences andErin will beher
direc,ng co-presen,ng
daily living.two sessions with syndrome less than 18 years of age. Nancy also coordinates the
Hospital
Nancy Campbell:Complex
“Complex Care CarePlans” Neuromotor
and “Keeping Fun on the the Rett Syndrome Clinic’s nurse
Hypertonia and Spina Bifida/Spinal Cord Injury Clinics. Nancy will
Terry Boyd & Rett Syndrome Clinics. She has
Agenda”. coordinator. This clinic provides
be co-presen,ng two sessions with Erin Brandon: “Complex Care
expertise and professional interest in comprehensive
Plans” and “Keeping Fun onmedical
the Agenda”. care and
the medical management of children care coordination for individuals with
with medical complexity Rett syndrome less than 18 years of
! age. Nancy also coordinates the
!
Hypertonia and Spina Bifida/Spinal
Erin Brandon
Nancy Campbell Cord Injury Clinics.
Nancy Campbell, RPN, is a Registered Prac,cal Nurse at Holland
Bloorview Kids Rehabilita,on Hospital. She is the ReB Syndrome
Clinic’s nurse coordinator. This clinic provides comprehensive
medical care and care coordina,on for individuals with ReB
syndrome less than 18 years of age. Nancy also coordinates the
Hypertonia and Spina Bifida/Spinal Cord Injury Clinics. Nancy will
be co-presen,ng two sessions with Erin Brandon: “Complex Care
Plans” and “Keeping Fun on the Agenda”.
Dr. Melissa Carter, MD, is a clinical gene,cist at The Children's
Hospital of Eastern Ontario (CHEO), and Assistant Professor at the
University of OBawa. She has recently replaced Dr. Peter
BIOGRAPHIES
Humphreys as the Medical Director of the CHEO ReB Syndrome
Clinic. Prior to joining CHEO in 2016, Dr. Carter was at The
Hospital for Sick Children in Toronto. She was the Founder and
Medical Director of the ReB Syndrome Clinic at Holland
Bloorview from 2013-2016. She also completed a clinical
fellowship in Developmental Paediatrics at Holland Bloorview
Kids Rehabilita,on Hospital in Toronto (2009-2011).
!
Melissa Carter
Dr. Caitlin Cassidy, MD, completed Medicine at the University of
DR.
Dr. MELISSA
Melissa Carter, MD, is aCARTER,
clinical gene,cistMD, at The is
Children's
a DR. in 2009
OBawa CAITLIN CASSIDY,
and her residency MD,
training in Physical Medicine
Hospital of Eastern Ontario (CHEO), and Assistant Professor at the and Rehabilita,on her
completed (PM&R) at Western University
residency training in 2014.
in She is
clinical geneticist at The Children’s
University of OBawa. She has recently replaced Dr. Peter currently an Assistant Professor in the Departments of PM&R and
Hospitalas of
Humphreys Eastern
the Medical Ontario
Director of the CHEO (CHEO),
ReB Syndrome
Physical Medicine and Rehabilitation
Paediatrics at Western University. Dr. Cassidy’s main clinical focus
andPrior
Clinic. Assistant
to joiningProfessor
CHEO in 2016, atDr.the University
Carter was at The (PM&R) at Western University in 2014.
is in the Transi,onal and Lifelong Care (TLC) Program, housed
of Ottawa.
Hospital She has
for Sick Children recently
in Toronto. She was replaced
the Founder and She is atcurrently
primarily an Assistant
Parkwood Ins,tute, St. Joseph’sProfessor
Health Care London
Medical DirectorHumphreys
Dr. Peter of the ReB Syndrome
as the Clinic at Holland
Medical in Joseph’s).
(St. the Departments
The program provides oflong
PM&R and
term rehabilita,ve care
Bloorview
Director fromof2013-2016.
the CHEO She alsoRett
completed a clinical
Syndrome Paediatrics
to people with chronicatandWestern University.
some,mes complex condi,ons of
fellowship in Developmental Paediatrics at Holland Bloorview childhood onset, including
Clinic. Prior to joining CHEO
Kids Rehabilita,on Hospital in Toronto (2009-2011).
in 2016, Dr. Cassidy’s mainReB syndrome.focus
clinical Dr. Cassidy’s
is inother
clinical responsibili,es include inpa,ent coverage of the
Dr. Carter was at The Hospital for !
the Transitional and Lifelong Care
! Musculoskeletal Rehabilita,on unit at Parkwood Ins,tute.
Sick Children in Toronto. She was the (TLC) Program, housed primarily at
Founder
Melissa Carterand Medical Director of the Rett Syndrome Clinic Parkwood
Caitlin Cassidy Institute, St. Joseph’s Health Care London (St.
at Holland Bloorview from 2013-2016. She also completed Joseph’s). The program provides long term rehabilitative
a clinical fellowship Dr. Caitlin Cassidy, MD, completed Medicine
in Developmental at ofcare to people with chronic and sometimes complex
at the University
Paediatrics
OBawa in 2009 and her residency training in Physical Medicine conditions of childhood onset, including Rett syndrome.
Holland Bloorview Kids Rehabilitation Hospital in Toronto
and Rehabilita,on (PM&R) at Western University in 2014. She is
(2009-2011). currently an Assistant Professor in the Departments of PM&R and
Dr. Cassidy’s other clinical responsibilities include inpatient
Paediatrics at Western University. Dr. Cassidy’s main clinical focuscoverage of the Musculoskeletal Rehabilitation unit at
is in the Transi,onal and Lifelong Care (TLC) Program, housed Parkwood Institute.
primarily at Parkwood Ins,tute, St. Joseph’s Health Care London Insert photo and text alphabetically by last name.
(St. Joseph’s). The program provides long term rehabilita,ve care
toDR. JACKIE CHIANG, KAREN CONGRAM,
Dr. Jackie Chiang, MD, completed her medical degree at
MD, of the is Coach
a Learning
people with chronic and some,mes complex condi,ons Karen Congram is a Learning for All who works with
University of OBawa, followed by a Paediatric residency at the
completed
childhood her
onset, including medical
ReB syndrome.degree Dr. Cassidy’sat
University of Toronto. She subsequently completed a Paediatric
other for All
teachers Coach
to design who
for works
inclusive with
education. teachers
She serves on
clinical
the responsibili,es
University includeOttawa,
inpa,ent coverage of the the
toBoard of Directors for the Ontario Rett Syndrome
! Respirology fellowship atof the Hospital for Sickfollowed
Children, where design for inclusive education. She
Musculoskeletal Rehabilita,on unit at Parkwood Ins,tute. Association. She is a mother of three, including Abby (18)
bywasathe Paediatric
she Chief Fellow. Sinceresidency the comple,on at of Dr.the
Chiang’s serves on the Board of Directors
who has Rett syndrome. Together, Karen and Abby have
for the
Caitlin Cassidy University
studies, she hasof Toronto.
worked at Holland She subsequently
Bloorview Kids Rehabilita,on Ontario
been learningRett Syndrome
and teaching Association.
about communication, literacy
Hospital
completedwhere she a remains involved in the
Paediatric respiratory care of
Respirology She
and is a mother
eye-tracking technology offorthree, including
almost five years.
children with neurodevelopmental or musculoskeletal condi,ons.
fellowship
Dr.
Dr. Jackie Chiang,
Chiang
at completed
MD,
also recently
the Hospital
rejoined the herDivision
medicaloffor
degreeSickat the
Respiratory
Abby (18) who has Rett syndrome.
Children,
University
Medicine atofthe where
OBawa,
Hospital forshe
followed awas
SickbyChildren the
Paediatric
as Chief
residency
a member ofatthe
the Together, Karen and Abby have
! Fellow.
University
Long Term of Since
Ven,la,on thesubsequently
Toronto. program.
She completion completed of a Dr.
Paediatric
!
been learning and teaching about
Respirology
Chiang’s fellowship
studies, at theshe Hospital
hasfor worked
Sick Children, atwhere communication, literacy and eye-
Jackie she was the Chief Fellow. Since the comple,on of Dr. Chiang’s
ChiangBloorview Kids
Holland Rehabilitation Hospital where
studies, she has worked at Holland Bloorview Kids Rehabilita,on
she tracking
Karen technology
Congram for almost five years.
remains involved inHospital the respiratory
where she remains care of in
involved children
the respiratorywith care of
Dr. James Ellis completed PhD at theconditions. University of Toronto, Insert photo and text alphabetically by last name.
neurodevelopmental or with
children musculoskeletal
neurodevelopmental or musculoskeletalDr. condi,ons.
developing retrovirus vectors for gene targe,ng. He established
Chiang also recently rejoined
Dr. Chiang the rejoined
also recently Division theof Respiratory
Division of Respiratory
his own research team at the Hospital for Sick Children in Toronto Jennifer Facchinelli is widely known as ‘Ava’s mom’. She
Medicine at the Hospital Medicinefor at the Hospital for Sick Children as a memberof of the
in 1994 with aSick
focus Children
on gene therapy as fora member
Sickle Cell Anemia. has presented and shared her experiences with Rett
! the Long Term Ventilation Long Term Ven,la,on program. syndrome and communication for Easter Seals, Holland
There, theprogram.
team worked to find a means to manipulate stem cells
for molecular medicine. The Ellis team developed MECP2 vectors Bloorview, Tobii Dynavox, and Today’s Parent. According to
Jackie Chiang Ava, she is really embarrassing.
for gene therapy of ReB syndrome. They also developed and
currently use pa,ent induced Pluripotent Stem (iPS) cells to
DR.
Dr.
modelJamesJAMES
ReB Ellis
syndrome. ELLIS,
completed PhD completed
In addi,on, at the University
they performPhD of Toronto,
drug at on
screens DR.
Dr. JAMES
James Eubanks, PhD, isEUBANKS,
a Senior Scien,st and the Head
PhD, is of the
developing
pa,ent retrovirus
iPS cell derivedvectors tofor
cellsToronto, genetheir
exploit targe,ng. He established
poten,al to discover Gene,cs and Development Division at the Krembil Research
the University of developing a Senior Scientist and the Head of
! his own research
personalized team at the Hospital for Sick Children in Toronto
medicines. Ins,tute in Toronto. The Eubanks lab ini,ally started inves,ga,ng
inretrovirus
1994 with a focus vectors
on genefor gene
therapy targeting.
for Sickle Cell Anemia. ! the asGenetics
MeCP2 and Development
one poten,al neuromodula,ng factor in the study of
James Ellis He
There, established
the team worked histo own
find a research
means to team
manipulate stem cells Division
stroke and at
epilepsy. the
When Krembil
muta,ons of theResearch
MeCP2 gene were
atmolecular
for the Hospitalmedicine. The forEllisSick Children
team developed MECP2 in vectors Jennifer Facchinelli Institute
iden,fied in Toronto.
as primary When
causes of ReB syndromemutations
in 1999, their focus
Toronto
for gene therapy in 1994 with a focus
of ReB syndrome. They alsoon geneand
developed changed
of the towards
MeCP2 beBer understanding
gene were normal func,on of
identified
currently use for pa,ent induced Pluripotent Stem (iPS) cells to MeCP2 in the brain. Data from the Eubanks lab shows that the
therapy Sickle Cell Anemia. There, as primary causes of Rett syndrome
model ReB syndrome. In addi,on, they perform drug screens on reintroduc,on of normal MeCP2 throughout the brain of MeCP2-
the team worked to find a means to
pa,ent iPS cell derived cells to exploit their poten,al to discover
in 1999,
deficient mice,the Eubanks
or into lab of
specific regions hadtheir already
brain, can improve
!
manipulate
personalized stem cells for molecular
medicines. been
many investigating
aspects of their ReB-like MeCP2.
condi,on. The They’ve
team is currently
!
medicine. The Ellis team developed shownpoten,al
exploring thatgene,cthemodifica,on
reintroduction of
and pharmacological
James MECP2 Ellis vectors for gene therapy of Rett syndrome. They also normal
James therapies for the
MeCP2 throughout
Eubanks the treatment
brain of ofReB syndrome.
MeCP2-deficient
developed and currently use patient induced Pluripotent mice, or into specific regions of their brain, can improve
6
Stem (iPS) cells to model Rett syndrome. In addition, they many aspects of Dr. their
David Rett-like
Grynspan, MD, condition. The
is a Paediatric Pathologist at the
perform drug screens on patient iPS cell derived cells to team is currently Children’s
exploringHospitalpotential
of Eastern Ontario where he has been
genetic
conduc,ng research on the enteric nervous system since 2009.
exploit their potential to discover personalized medicines. modification and pharmacological therapies for
His interest in the neurological basis of intes,nal dysfunc,on in
the treatment of Rett
ReBsyndrome.
syndrome was sparked by clinical observa,ons made by Dr.
Peter Humphreys who is a role model and mentor. He is also
fortunate to have been mentored in neuroscience by Professor
William Staines at the University of OBawa, with whom he
formed a collabora,ve team that was the first to show expression
of the MeCP2 gene in intes,nal neurons. In 2017, Dr. Grynspan
Insert photo and text alphabetically by last name.
Dr. James Eubanks, PhD, is a Senior Scien,st and the Head of the
7 SPEAKER
Karen Congram is a Learning for All Coach who works with
teachers to design for inclusive education. She serves on Gene,cs and Development Division at the Krembil Research
the Board of Directors for the Ontario Rett Syndrome Ins,tute in Toronto. The Eubanks lab ini,ally started inves,ga,ng
Association. She is a mother of three, including Abby (18) MeCP2 as one poten,al neuromodula,ng factor in the study of
who has Rett syndrome. Together, Karen and Abby have stroke and epilepsy. When muta,ons of the MeCP2 gene were
been learning and teaching about communication, literacy iden,fied as primary causes of ReB syndrome in 1999, their focus
and eye-tracking technology for almost five years. changed towards beBer understanding normal func,on of
MeCP2 in the brain. Data from the Eubanks lab shows that the
reintroduc,on of normal MeCP2 throughout the brain of MeCP2-
deficient mice, or into specific regions of their brain, can improve
! ! many aspects of their ReB-like condi,on. The team is currently
exploring poten,al gene,c modifica,on and pharmacological
Karen Congram James Eubanks therapies for the treatment of ReB syndrome.
Insert photo and text alphabetically by last name.
JENNIFER FACCHINELLi, DR.
Dr. DavidDAVID
Grynspan, MD, GRYNSPAN,
is a Paediatric Pathologist
MD, atisthe a
Jennifer Facchinelli is widelyas
known as ‘Ava’s mom’. She Children’s Hospital of Eastern Ontario where he has been
is widely known ‘Ava’s mom’. Paediatric Pathologist at the Children’s
has presented and shared her experiences with Rett conduc,ng research on the enteric nervous system since 2009.
She has
syndrome andpresented
communicationand shared
for Easter her
Seals, Holland
Hospital
His interest in of Eastern Ontario
the neurological where
basis of intes,nal he in
dysfunc,on
experiences
Bloorview, withand Rett
Tobii Dynavox, syndrome
Today’s Parent. According to has
ReB beenwas
syndrome conducting research
sparked by clinical observa,ons onmade
the by Dr.
Ava,
and shecommunication
is really embarrassing. for Easter Seals, enteric
Peter nervous
Humphreys who is asystem
role model since 2009.
and mentor. HeHis
is also
Holland Bloorview, Tobii Dynavox, and fortunate
interest to have
in been
the mentored in neuroscience
neurological basis by Professor
of
William Staines at the University of OBawa, with whom he
Today’s Parent. According to Ava, she intestinal
Dr. Monica
dysfunction
Jus,ce, PhD, is the
in Rett
Head
syndrome
formed a collabora,ve team that wasand
theafirst
Senior Scien,st
to show in the
expression
is really embarrassing. ofwas
Gene,cs sparked
the MeCP2& Genome by
gene inBiology clinical
program
intes,nal observations
at
neurons. The Hospital
In 2017, for Sick
Dr. Grynspan
! !
made
Children
was awarded bya $100,000
Dr.inPeter
(SickKids) Toronto. Humphreys
Shegrant
research recently thewho
frommoved is ReB
to this
Ontario
a rolefrom
posi,on
Syndrome model and ofmentor.
Baylor College
Associa,on. He is also
Medicine, Houston, Texas, where
Jennifer Facchinelli Grynspanto have she
fortunate
David beenwas a Professor
mentored in the Department of Molecular and
in neuroscience by Human
Gene,cs and Director of the Mouse Embryonic Stem Cell Core
Professor William Staines at the University of Ottawa, with
and the BaSH Consor,um for the Produc,on and Broad-based
whom he formed a Phenotyping
collaborative team
of Knockout that
Mice. was
Jus,ce the her
received firstPhD
to from
Dr. Monica Jus,ce, PhD, is the Head and a Senior Scien,st in the show expression of the
Kansas MeCP2
State gene
University in in
mouseintestinal neurons.
developmental gene,cs and
Gene,cs & Genome Biology program at The Hospital for Sick In 2017, Dr. Grynspan was was awarded
a postdoctoral fellow inathe$100,000
Mammalianresearch
Gene,cs Laboratory
Children (SickKids) in Toronto. She recently moved to this grant
! at theRett
from the Ontario Na,onal Cancer Ins,tute.
Syndrome Association.
posi,on from Baylor College of Medicine, Houston, Texas, where
she was a Professor in the Department of Molecular and HumanMonica Jus,ce
Gene,cs and Director of the Mouse Embryonic Stem Cell Core
DR.
and
Dr. MonicaMONICA
the BaSH Jus,ce, PhD, isJUSTICE,
Consor,um for
thetheHead and aPhD,
Produc,on is the in the
and Scien,st
Senior Broad-based DR.
Dr. DavidDAVID KATZ, ofPhD
Katz, PhD is Professor is Professor
Neurosciences and Psychiatry
Phenotyping
Gene,cs
Head& and of Knockout
Genome aBiology Mice.
Senior Jus,ce
program atreceived her PhD
The Hospital
Scientist in from
for Sick
the atofCaseNeurosciences
Western Reserve University SchoolPsychiatry
of Medicine in
and
Kansas
ChildrenState University
(SickKids) in mouse
in Toronto. Shedevelopmental
recently movedgene,cs to this and Cleveland, Ohio. The Katz lab is involved in efforts to develop and
Genetics
was a postdoctoral
posi,on
& Genome
from BaylorfellowCollege in the
Biology
Mammalian
of Medicine,
program
Gene,cs
Houston, Laboratory
Texas, where
at Case Western Reserve University
evaluate poten,al ReB syndrome (RTT) therapeu,cs in mouse
! at
at
shethe
was The
Na,onal Hospital
Cancer
a Professor Ins,tute.
in the for Sick Children
Department of Molecular and Human School
models, with of Medicine
a par,cular in Cleveland,
focus on molecules targe,ng the BDNF/
(SickKids)
Gene,cs in of
and Director Toronto. She recently
the Mouse Embryonic Stem Cell Core Ohio.
TrkB Thepathway,
signaling Katz lab is involved
as well as glutamate in efforts
signaling through
Monica Jus,ce moved
and the BaSH to this position
Consor,um for the Produc,on fromandBaylor Broad-based to NMDA
the develop
receptor.and
Results evaluate
from the NMDApotential
program have
Phenotyping
College ofofKnockout Medicine, Mice. Jus,ce received her
Houston, PhD from
Texas, recently translated into a(RTT)
Rett syndrome clinical trial of low-dose ketamine
therapeutics in in
Kansas
Dr. DavidState
Katz,University
PhD is in mouse
Professor of developmental
Neurosciences gene,cs
and and
Psychiatry RTT pa,ents. In addi,on to his academic work, David is co-
where
was
she
a postdoctoral
was a
fellowUniversity
Professor
in the Mammalian
in the mouse models, with a particular focus
at Case Western Reserve School ofGene,cs
MedicineLaboratory
in founder of ArRETT Neurosciences, a startup created to advance
! atDepartment
the Na,onal
Cleveland, Ohio.Cancer
ofIns,tute.
The Katz
Molecular and Human
lab is involved in efforts to develop and ! on molecules
treatments targeting
for RTT and related the BDNF/
neurodevelopmental disorders.
Genetics
evaluate poten,al and Director(RTT)
ReB syndrome oftherapeu,cs
the Mouse in mouse TrkB signaling pathway, as well as
Embryonic
Jus,ce Stem Cell Core and the David Katz
Monica models, with a par,cular focus BaSH
on molecules Consortium
targe,ng the BDNF/ glutamate signaling through the NMDA receptor. Results
for the Production and Broad-based Phenotyping of
TrkB signaling pathway, as well as glutamate signaling through from the NMDA program Jane Lane,have
BSN, RNrecently
has 25 years’translated
experience as aintoresearch
a
the NMDA
Dr. David
Knockout Mice. Justice receptor.
Katz,
receivedPhD isResults herfrom
Professor ofthe
PhD NMDA
fromprogram
Neurosciences have
and Psychiatry
Kansas manager in child neurology at the Civitan Interna,onal Research
clinical trial of low-dose ketamine in RTT patients. In addition
recently translated
at Case Western into a University
Reserve clinical trialSchool
of low-dose ketamine
of Medicine in in Center at the University of Alabama at Birmingham, the last 12
State University in RTT
mouse
pa,ents.
developmental
In addi,on
genetics and to his academic work, David is co-founder of ArRETT
years devoted exclusively to ReB syndrome. She is the Project
Cleveland, Ohio. The Katztolab hisisacademic
involved in work,
effortsDavid is co- and
to develop
was a postdoctoral fellow
founder
evaluate of in the
ArRETT
poten,al Mammalian
Neurosciences,
ReB syndrome a startup
(RTT) Genetics
created to
therapeu,cs mouse Neurosciences, a startup
in advance Managercreated to advance
for the ReB Syndrome treatments
and ReB-related Disorders
!Laboratory at the Nationaltreatments
models, with Cancer
fora RTT
par,cular Institute.
and related
focus on neurodevelopmental
molecules targe,ng disorders.
the BDNF/ for RTT and related neurodevelopmental
Consor,um as part of the NIH-funded disorders.
Rare Diseases Network,
TrkB signaling pathway, as well as glutamate signaling through which works to define the natural history of these disorders. She
David Katz
the NMDA receptor. Results from the NMDA program have has co-authored over 25 publica,ons, almost all pertaining to
Jane Lane,
recently BSN, RN into
translated has 25 years’ trial
a clinical experience as a research
of low-dose ketamine in ReB syndrome.
JANE
manager
RTT pa,ents. LANE,
in child neurology
In addi,on BSN, at the
to his RNCivitan
academichaswork, 25 Davidyears’
Interna,onal is Research
co- SHERRY LAWRENCE, for several
Center
founder atofthe
experience University
ArRETT as ofaAlabama
Neurosciences, research a at Birmingham,
startup created the
manager last 12
to advance years, has been an active member
years
!
in devoted
treatments
child forexclusively
RTT and related
neurology to ReBneurodevelopmental
syndrome. She is thedisorders.
at the Civitan Project !
of her community in Paris, Ontario,
Manager for the ReB Syndrome and ReB-related Disorders
David Katz International Research Center
Consor,um as part of the NIH-funded Rare Diseases Network, at the Jane Lane volunteering on the Accessibility
University
which
Jane works
Lane, BSN, of
RN Alabama
to define hasthe
25 natural at Birmingham,
history
years’ experience of these disorders. She
as a research Committee for the County of Brant
the
has
manager last
co-authored 12over
in child years devoted
25 publica,ons,
neurology at the Civitanalmostexclusively
all pertaining
Interna,onal to
Research and working as a Fitness Instructor.
ReB
to syndrome.
Center at thesyndrome.
Rett University of Alabama She atisBirmingham,
the Project the last 12 Sherry has been volunteering with the
years devoted exclusively to ReB syndrome. She is the Project
Manager for the Rett Syndrome and Ontario Rett Syndrome Association
Manager for the ReB Syndrome and ReB-related Disorders
!
Rett-related
Consor,um as part ofDisorders
the NIH-funded Consortium
Rare Diseases Network, as for over 19 years. She and her family
partworks
which of the NIH-funded
to define the natural history Rare Diseases
of these disorders. She have coordinated the Run4Rett since
JaneNetwork,
Lane which works to defineover
has co-authored the25natural
publica,ons, history
almost of these to 2012. Sherry and David have three adult children. Olivia
all pertaining
disorders. She hasReBco-authored
syndrome. over 25 publications, is 27 years old and has Rett syndrome. Olivia resides at
almost all pertaining to Rett syndrome. home and is supported by her parents and her network of
!
excellent staff, who are funded by Paramed Home Care
Program and MCSS Passport Program. Olivia lives a very
Jane Lane engaged and fulfilling lifestyle.
! Paramed Home Care Program and MCSS Passport Program.
Olivia lives a very engaged and fulfilling lifestyle.
Sherry Lawrence
Dr. Jason Lerch, PhD, is a Senior Scien,st at the Mouse Imaging
Centre (MICe) of the Hospital for Sick Children and an Associate
BIOGRAPHIES
Professor in Medical Biophysics at the University of Toronto. Prior
For several years, Sherry Lawrence has been an active member to MICe, he completed his Ph.D. in 2005 in the Department of
of her community in Paris, Ontario, volunteering on the Neurology and Neurosurgery at McGill University. His Ph.D.
Accessibility Committee for the County of Brant and working as a
Fitness Instructor. Sherry has been volunteering with the Ontario research was on in-vivo measurements of cor,cal thickness from
Rett Syndrome Association for over 19 years. She and her family MRI. Currently, his research focus is on detec,ng
have coordinated the Run4Rett since 2012. Sherry and David neuroanatomical changes due to behavioural and gene,c
have three adult children. Olivia is 27 years old and has Rett manipula,ons in ,ghtly controlled mouse models, primarily
syndrome. Olivia resides at home and is supported by her
parents and her network of excellent staff, who are funded by related to neurodevelopmental disorders, and to relate these
! Paramed Home Care Program and MCSS Passport Program. ! findings to human subjects.
Olivia lives a very engaged and fulfilling lifestyle.
Sherry Lawrence Jason Lerch
DR.
Dr. JasonJASON
Lerch, PhD, LERCH,
is a Senior Scien,st
PhD,atisthe
a Mouse
SeniorImaging DR.
Dr. PATRICK
Patrick MacLeod, MD, MACLEOD,
is a Pediatrician and MD, Medical
is aGene,cist
Centre (MICe) of the Hospital for Sick Children and an Associate and a member of the Vancouver Island Medical Gene,cs Program
Scientist at the Mouse Imaging Centre Pediatrician and Medical Geneticist
Professor in Medical Biophysics at the University of Toronto. Prior based in Victoria B.C. He is a Clinical Professor in the Department
(MICe)
to MICe, heof the Hospital
completed for
his Ph.D. in Sick
2005 Children
in the Department of and a member of the Vancouver
of Medical Gene,cs University of Bri,sh Columbia and an
and anand
Neurology Associate
Neurosurgery Professor in Medical
at McGill University. His Ph.D. IslandClinical
Adjunct Medical
Professor atGenetics ProgramResearch
the Centre for Biomedical
Biophysics
research was on at themeasurements
in-vivo Universityofof Toronto.
cor,cal thickness from based
at in Victoria
the University of Victoria.B.C. He is has
Dr. MacLeod a Clinical
been involved in
MRI.
PriorCurrently,
to MICe, his research focus is on detec,ng
he completed his Ph.D. in Professor
various aspects ofinReB the Syndrome Department of
Clinical Research beginning in
neuroanatomical changes due to behavioural and gene,c 1985.
Medical He is currently
Genetics a member of the Scien,fic
University of Advisory
British
2005 in the Department of Neurology Dr. Caroline ofMusselwhite,
manipula,ons in ,ghtly controlled mouse models, primarily CommiBee the OntarioPhD, ReB is an assis,ve
Syndrome technology
Associa,on.
and Neurosurgery at McGill University. Columbia
specialist with more and than 40an Adjunct
years of experience Clinical
working with
related to neurodevelopmental disorders, and to relate these
His Ph.D.
findings to humanresearch
subjects. was on in-vivo Professor
children at the Centre
and adolescents for Biomedical
with significant disabili,es in a variety
! !
measurements of cortical thickness ofResearch
seAngs, including at the HeadUniversity of Victoria.day
Start, clinics, developmental
Jason fromLerch
MRI. Currently, his research focus is on detecting Dr. MacLeod programs,involved
has been homes, and the in public
variousschools.aspects
Dr. Musselwhite
of has
Patrick MacLeod
wriBen a number of textbooks and “how-to” books on a range of
neuroanatomical changes due to behavioural and Rett Syndrome Clinical Research beginning in 1985. He is
topics, and has also authored many books and sopware programs
genetic manipulations in tightly
Dr. Patrick MacLeod, controlled mouse
MD, is a Pediatrician andmodels,
Medical Gene,cist currently
! a memberforof thewith
youth Scientific
disabili,es. Advisory
She has presented Committee
thousands of
and a member of the Vancouverdisorders,
primarily related to neurodevelopmental Island Medicaland Gene,cs to Program of the Ontario Rett Syndrome workshops throughout Association.
North and South America, Australia,
based in Victoria B.C. He is a Clinical Professor in the Department Caroline Musselwhite
relate these findingsofto human subjects.
Medical Gene,cs University of Bri,sh Columbia and an
Europe, and Africa, and is a founding member and Fellow of the
Interna,onal Society for Augmenta,ve and Alterna,ve
Adjunct Clinical Professor at the Centre for Biomedical Research Communica,on.
at the University of Victoria. Dr. MacLeod has been involved in
various aspects of ReB Syndrome Clinical Research beginning in
1985. He is currently a member of the Scien,fic Advisory Dr. Jeffrey Neul, MD, PhD is the Director of the Vanderbilt
DR. CAROLINE MUSSELWHITE,
CommiBee of the Ontario ReB Syndrome Associa,on. DR. JEFFREY
Kennedy Center and theNEUL, AnneBe SchafferMD, PhD Eskind is the
Chair of
PhD, is an assistive technology Pediatrics.
Director Duringof clinical
the training
Vanderbilt at Baylor College
Kennedy of Medicine,
Houston, TX, he nurtured a long-standing interest in
! specialist with more than 40 years of
Dr. Caroline Musselwhite, PhD, is an assis,ve technology
Center and the Annette Schaffer
neurodevelopmental disorders and became interested in ReB
experience working with children
specialist with more than 40 years of experience working with and Eskind (RTT),
syndrome Chair
ul,matelyof doing Pediatrics. He in
a post-doctoral fellowship
Patrick MacLeod adolescents withwith significant disabilities
children and adolescents significant disabili,es in a variety completed
the laboratory of Dr. a Huda
post-doctoral
Zoghbi at Baylor.fellowship
Aper Baylor, Dr. Neul
ofinseAngs,
a variety
includingofHead
settings, including
Start, clinics, Head
developmental day in thethelaboratory
became Division Chief ofof Dr.Neurology
Child Huda and Zoghbi
Professor of
programs, Dr. Alan Percy, MD, is aUniversity
pediatric neurologist
California,atSan
theDiego
University of
Start, homes,clinics,and thedevelopmental
public schools. Dr. Musselwhite day has Neurosciences
at Baylor at the
College of ofMedicine. After and Rady
wriBen a number of textbooks and “how-to” books on a range of Alabama
Children’satHospital
Birmingham. In 1983
San Diego. Hehe was one
moved of the firstUniversity
to Vanderbilt
programs, homes, and the public Baylor,toDr.
physicians Neul became
recognize thein Division
topics, and has also authored many books and sopware programs Medical Center in 2017ReBwhere syndrome (RTT)
he con,nues histhe United
work States
on clinical
! schools.
for Dr. Musselwhite
youth with disabili,es. She has presentedhasthousands
writtenof !
Chief
and
care, ac,velyof
clinical Child
pursued
research, Neurology
clinical
and and and
laboratory
transla,onal/basic Professor
studies in
research RTT,
on ReB
a number
workshops of textbooks
throughout North and South and “how-to”
America, Australia, of Neurosciences
establishing
syndrome centers
and relatedat Baylor at theofUniversity
College
disorders. of at the
Medicine and later
Caroline
booksMusselwhite
on a range of topics,
Europe, andand
and Africa, has is aalso
foundingauthored
member andmany Fellow of theCalifornia, Jeffrey Neul San DiegoUniversity
andof RadyAlabama Children’s
at Birmingham where he is the
Hospital Sanprincipal
Interna,onal Society for Augmenta,ve and Alterna,ve inves,gator of the ReB syndrome and ReB-related disorders Rare
books and software programs for youth with disabilities. She Diego. He moved to Vanderbilt University Medical Center
Communica,on. Disease Clinical Research Consor,um. He encouraged Dr. Huda
has presented thousands of workshops throughout North in 2017 where he Zoghbi continuesto pursue hisgene,c work
studieson in RTT,clinical
leading tocare,
iden,fica,on
and South America, Australia, Europe, and Africa, and is a clinical research, and translational/basic
of muta,ons in MECP2. He has authored research more onthanRett
120 scien,fic
Dr. Jeffrey Neul, MD, PhD is the Director of the Vanderbilt
founding member and Fellow of the International
Kennedy Center and the AnneBe Schaffer Eskind Chair of Society syndrome and related
papers, disorders.
chapters, and reviews on RTT. He remains commiBed to
for Augmentative and Alternative Communication. ! finding meaningful approaches to effec,ve treatment for this
Pediatrics. During clinical training at Baylor College of Medicine,
unique neurodevelopmental disorder.
Houston, TX, he nurtured a long-standing interest in Alan Percy
neurodevelopmental disorders and became interested in ReB
Dr. Alan Percy,
syndrome (RTT),MD, is a pediatric
ul,mately doing neurologist at the
a post-doctoral University
fellowship in of
DR.
Alabama
the atALAN
laboratory of Dr. HudaPERCY,
Birmingham. In 1983 at
Zoghbi wasMD,
heBaylor. one of the
Aper is first
Baylor, aDr. Neul BRENDON
Brendon Pooran is the POORAN,
principal lawyer at PooranLaw.
is the principal
physiciansthetoDivision
recognize ReBof syndrome (RTT)University
in the United States He is involved in all areas of the firm’s prac,ce and regularly
pediatric
became neurologist
Chief Childat the
Neurology and Professor of lawyer at PooranLaw. He is involved
and provides advice to individuals, families, organiza,ons and
of ac,vely
Neurosciences
Alabama pursued clinical
at the at
Universityandoflaboratory
Birmingham.California,studies
San
In Diego in RTT,
1983 and Rady in all areas
government in the areas ofof thewills & firm’s practice
estates planning, disability
Children’s
establishingHospital
centers San
at Diego.
Baylor He moved
College of to Vanderbilt
Medicine andUniversity
later at the
he
Medical
was
UniversityCenter
one of
in 2017 at
of Alabama
the
where
first physicians
he con,nues
Birmingham where hishework
is the
to
onprincipal
clinical
and
law, and regularly
corporate law for provides
not-for-profit advice
and charitable to
! recognize
care, Rett
clinical research,
inves,gator of the ReBand syndrome (RTT)research
transla,onal/basic
syndrome and ReB-related in disorders
the on ReBRare individuals,
organiza,ons. As well families,
as being a lawyer, organizations
Brendon teaches Cri,cal
United
syndrome
Disease andStates
related
Clinical and
disorders.
Research actively
Consor,um. pursued
He encouraged Dr. Huda Disability Law at York University,
and government in theis theareas
Past-President of
of wills
Jeffrey Neul Community Living York South and is a founding director of Plan
clinical
Zoghbi andgene,c
to pursue laboratory studies
studies in RTT, leadingin RTT.
to iden,fica,on & estates planning, disability law,
of muta,ons in MECP2. He has authored more than 120 Toronto (now Partners for Planning). He is also a lawyer member
He is the principal investigator of scien,fic onand corporate
the Ontario Consent and law for Board
Capacity not-for-profit
and provides
papers, chapters, and reviews on RTT. He remains commiBed to
the Rett syndrome and Rett-related !
and charitable
performance management organizations.
solu,ons to As well
organiza,ons in the
! finding meaningful approaches to effec,ve treatment for this
disorders Rare
unique neurodevelopmental disorder. Disease Clinical as
human being
services a lawyer,
arena. Brendon teaches
Alan Research
Percy Consortium. He encouraged Dr. Huda Zoghbi CriticalPooran
Brendon Disability Law at York University, is the Past-President
8
to pursue genetic studies in RTT, leading to identification of Community Living York South and is a founding director
of mutations in MECP2
Brendonin Pooran
1999.isHe remains
the principal committed
lawyer at PooranLaw.to of Plan Toronto (now Partners for Planning). He is
finding meaningful approaches
He is involved in allto effective
areas of the firm’streatment for
prac,ce and regularly also a lawyer member on the Ontario Consent
provides advice to individuals,
this unique neurodevelopmental disorder. families, organiza,ons and and Capacity Board and provides performance
government in the areas of wills & estates planning, disability
management solutions to organizations in the
law, and corporate law for not-for-profit and charitable
organiza,ons. As well as being a lawyer, Brendon teaches Cri,calhuman services arena.
Disability Law at York University, is the Past-President of
Community Living York South and is a founding director of Plan
Toronto (now Partners for Planning). He is also a lawyer member
on the Ontario Consent and Capacity Board and provides
S P EA K E R
9
Hassnane Sajan is the CEO at Darts Solu,ons Inc., a technology-
based organiza,on located in Vaughan, Ontario. Hassnane has
been involved in the technology field for over 20 years. He has
led numerous projects with both the private and public sector
including key ini,a,ves for the Ministry of Community and Social
B IOGRA P H I E S
Services (MCSS). Darts Solu,ons, in coopera,on with families and
Hassnane Sajan is the CEO at Darts Solu,ons Inc., a technology- several agencies, has developed MyDirectPlan – an online
based organiza,on located in Vaughan, Ontario. Hassnane has province-wide cloud based applica,on that assists families
been involved in the technology field for over 20 years. He has in managing their Passport, Residen,al and Special Services at
led numerous projects with both the private and public sector Home (SSAH) funding. His organiza,on has also collaborated with
including key ini,a,ves for the Ministry of Community and Social ! the Developmental Services sector to build a standardized data
Services (MCSS). Darts Solu,ons, in coopera,on with families and transfer protocol.
several agencies, has developed MyDirectPlan – an online Hassnane Sajan
province-wide
Hassnane Sajancloud
is based applica,on
the CEO at Dartsthat assists Inc.,
Solu,ons families
a technology-
inHASSNANE
managing
based SAJAN,
their Passport,
organiza,on is the
Residen,al
located in Vaughan, CEOServices
and Special
Ontario. atHassnane
at has DR.
Dr. SarahSARAH SCHOCK,
Schock is a Research is atathe
Associate Research
Children’s Hospital
Home ofAssociate
Eastern Ontarioat Research
the Ins,tute. Her interests lie in
been(SSAH)
Darts funding.
in theHis
Solutions
involved organiza,on
Inc.,
technologya fieldhasfor
also
technology-collaborated
over 20 years.with He has Children’s Hospital
! the repurposing drugs to find novel therapeu,cs for rare
ledDevelopmental
numerous
based
Services
projects
organization
sector
with to the
both buildprivate
located
a standardized datasector
andinpublic of Eastern Ontario Research Institute.
transfer protocol. neurodevelopmental disorders, such as ReB syndrome. Sarah
Hassnane Sajan including key Ontario. Hassnane
Vaughan, ini,a,ves for the Ministry has of Community
been and Social Her interests
focuses her studies onlie
thein repurposing
brain drugs
as well as the gastrointes,nal
Services (MCSS).
involved in theDarts technology
Solu,ons, in coopera,on
field for with families and to She
tract. find novelanalyzing
is currently therapeutics for changes
the neurochemical rare in
several20
over agencies, has developedled
years. He MyDirectPlan – an online neurodevelopmental
each of these systems and determining disorders,
how neurons such
Dr. Sarah Schock is a ResearchhasAssociate atnumerous
the Children’s Hospital
province-wide cloud based applica,on that assists
lie in families communicate differently in various
as Rett syndrome. SarahReB syndrome
focusesmodels. her
projects
of with
Eastern Ontario both
Research the private
Ins,tute. Her interests and
in managing
repurposing their Passport,
drugs to find Residen,al
novel therapeu,cs and Special
for rare Services at Discovering drugs which restore proper neuronal communica,on
public sector including key initiatives studies on the brain
is the primary goal of her research.
as well as the
Home (SSAH) funding.
neurodevelopmental His organiza,on
disorders, such as ReB has also collaborated
syndrome. Sarah with
!
for the MinistryServices of Community and gastrointestinal tract. She is currently
the Developmental
focuses her studies on the brain sector
as well to build
as the a standardized
gastrointes,nal ! data
Social
transfer
tract. She isServices
protocol. (MCSS).
currently analyzing theDarts Solutions,
neurochemical changes in
analyzing the neurochemical
in cooperation
Hassnane Sajan witheachfamilies and several agencies,
of these systems and determining how neurons has changes
Sarah Schock in each of these systems and determining how
developed MyDirectPlan
communicate– differently
an online in various province-wide
ReB syndrome models. neurons communicate differently in various Rett syndrome
cloud based application that assists families at the Children’smodels.
in neuronal
managing Hospital Discovering drugs which restore proper neuronal
Discovering drugs which restore proper communica,on
Dr. Sarah Schock is a Research Associate
is the primary
their Passport, Residential and goalSpecial
of her research.
Services at Home communication is the primary goal of her research.
of Eastern Ontario Research Ins,tute. Her interests lie in Dr. Erick Sell, MD, is a paediatric neurologist at the Children’s
! (SSAH) funding. His organization has also collaborated with
repurposing drugs to find novel therapeu,cs for rare Hospital of Eastern Ontario (CHEO) and Assistant Professor at the
the Developmental
Sarah Schock Services sector todisorders,
neurodevelopmental build asuchstandardized
as ReB syndrome. Sarah University of OBawa. Aper medical training in Costa Rica, he
data transfer protocol.focuses her studies on the brain as well as the gastrointes,nal completed two fellowships - pediatric neurology and pediatric
tract. She is currently analyzing the neurochemical changes in epilepsy - both at the Hospital for Sick Children in Toronto from
each of these systems and determining how neurons 2002 to 2006. He then returned to Costa Rica in 2007 and worked
DR. ERICK SELL, MD,
communicate is aReBpaediatric DR.
Dr.
at Vicky
the Siu,VICKY
Na,onal MD,
Children’s SIU,inand
is a paediatrician
Hospital medical
MD,
San gene,cist
is epilepsy
Jose, in the a
Dr. Erick Sell, MD,differently in various
is a paediatric neurologist syndrome
at models.
the Children’s working outunit
of the London Health Sciences Centre and is the
neurologist
Discovering at
drugs the
whichChildren’s
restore Hospital
proper neuronal ofcommunica,on paediatrician and medical geneticist
monitoring and the vagal nerve program. He returned once
Hospital of Eastern Ontario (CHEO) and Assistant Professor at the medical
more director
to CHEO in of thewhere
2010 Medical
his Gene,cs
research Program
interests of
include
Eastern
University ofOntario
is the primary of (CHEO)
goal Aper
OBawa. her and Assistant
research.
medical training in Costa Rica, he working
Southwestern out
Ontario. of the London Health
She remembers being introduced to ReB
! paediatric epilepsy and electroencephalography.
! Professor
completed twoat the University
fellowships of Ottawa.
- pediatric neurology and pediatric Erick Sell Sciences
Syndrome by Dr.Centre and during
Patrick Macleod is the her medical
fellowship training.
After -medical
epilepsy training
both at the Hospital in Children
for Sick CostainRica, Toronto from director
She of the
was instrumental Medical
in founding and leadingGenetics
the
Sarah Schock heDr.toVicky
2002 2006.Siu,
completed MD, returned
He then is a two
paediatrician
to Costa andinmedical
fellowships
Rica 2007 and - gene,cist
worked mul,disciplinary
Program of ReB Syndrome
Southwesternclinic at Thames Valley Children’s
Ontario.
at working
the Na,onaloutChildren’s
of the London
Hospital Health
in San Sciences
Jose, in theCentre and is the
epilepsy Centre
pediatric neurology and pediatric She in London, ON. Shebeing
remembers is con,nually inspired by many
introduced to
medicalunit
monitoring director of vagal
and the the Medical Gene,cs
nerve program. He Program of
returned once wonderful young women with ReB syndrome and their families.
epilepsy
more
- both
to CHEO in 2010
at the
where his
Hospital for Rett Syndrome by Dr. Patrick Macleod
Southwestern Ontario. Sheresearch
remembersinterests include
being introduced to ReB
! Sick Children
paediatric epilepsy inelectroencephalography.
and Toronto from 2002 to during her fellowship training. She was
Syndrome by Dr. Patrick Macleod during her fellowship ! training.
Erick Sell 2006.
Dr.She He
Erick
wasSell,then
MD, isreturned
a paediatric
instrumental to
in founding Costa
neurologist Rica
at
and leading the Children’s
the instrumental in founding and leading
in 2007 and worked Hospital
at the ofNational
Eastern Children’s
Ontario (CHEO) Hospital
and Assistant in the
Professor at
Vicky
mul,disciplinary ReB Syndrome clinic at Thames Valley Children’s multidisciplinary
the
Siu Rett Syndrome clinic at Thames Valley
San Jose, in the epilepsy
Centremonitoring
University inofLondon,
OBawa.ON. unit
Aper
She isand
medical the vagal
training
con,nually in Costa by
inspired Children’s
Rica, he
many Centre in London, ON. She is continually inspired
completed
wonderfultwo
nerve program. He returned oncefellowships
young more -with
women pediatric
to CHEO neurology
in 2010
ReB syndrome and their
and pediatric
byfamilies.
many wonderfulDr Johnyoung women
Vincent, withScien,st/Principal
PhD, is a Senior Rett syndrome Inves,gator
where his research epilepsy
interests- both at the Hospital
include for Sick Children
paediatric epilepsy in Toronto
andfromtheir families. at the Centre for Addic,on and Mental Health and is a Professor
2002 to 2006. He then returned to Costa Rica in 2007 and worked of Psychiatry and cross-appointed as a full member in the
! and electroencephalography. Ins,tute of Medical Science at the University of Toronto. His work
at the Na,onal Children’s Hospital in San Jose, in the epilepsy
monitoring unit and the vagal nerve program. He returned once is on the gene,cs of neuropsychiatric and neurodevelopmental
Vicky Siu disorders. In 2004, he co-authored a seminal paper on the
more to CHEO in 2010 where his research interests include
iden,fica,on of an alterna,ve version (isoform) of the ReB
! paediatric epilepsy and electroencephalography. Elli Weisbaum is an instructor for the Applied Mindfulness and
syndrome protein, MeCP2, iden,fying the first ReB muta,on in
Erick Sell DR. JOHN VINCENT, PhD, is a Senior
Dr John Vincent, PhD, is a Senior Scien,st/Principal Inves,gator ELLI exon
Medita,on
MECP2 WEISBAUM,
Cer,ficate Program atisthean instructor
University
1. Dr Vincent’s group also iden,fied
of Toronto in the
the gene
at the Centre for Addic,on
Scientist/Principal and Mentalat
Investigator Health
theand is a Professor con,nuing Educa,on Faculty. She holds a masters degree
PTCHD1 as a new X-linked gene for ASD. Dr Vincentand
for the Applied Mindfulness focused
also works on
of Psychiatry on bringing mindfulness into educa,on. She spent a year as the
Centre for and cross-appointed
Addiction and as aMental
full member in! the Meditation
iden,fying Certificate
autosomal recessive Program
genes ID, through the study of
interna,onal program coordinator for Wake Up Schools, a global
Ins,tute
Health of Medical
and Science at the
is a Professor University of Toronto. His work
of Psychiatry families
at the fromUniversity
countries with high
of rates of consanguinity
Toronto the(Pakistan
John Vincent
is on the gene,cs of neuropsychiatric and neurodevelopmental ini,a,ve to cul,vate mindfulness in educa,on, in
established by
and Iran).
and cross-appointed as a full member continuing
Nobel Education
Peace Prize nominee, Faculty.
scholar and Zen MasterSheThich Nhat
disorders. In 2004, he co-authored a seminal paper on the
in the Institute of Medical Science at holds
Hanh. Shea masters
is currently degree
pursuing her PhDfocused on of
at the University
iden,fica,on of an alterna,ve version (isoform) of the ReB Toronto in the mindfulness
Ins,tute of Medicalinto
Science and comple,ng her
the University of Toronto. His work is
syndrome protein, MeCP2, iden,fying the first ReB muta,on in
bringing education.
teacher training with Search Inside Yourself, an emo,onal
onMECP2
the exon
genetics of neuropsychiatric
1. Dr Vincent’s group also iden,fied the gene She spent a year as the international
intelligence and mindfulness program.
and neurodevelopmental disorders. In
PTCHD1 as a new X-linked gene for ASD. Dr Vincent also ! works on program coordinator for Wake Up
! 2004, he co-authored a seminal paper
iden,fying autosomal recessive genes ID, through the study of Schools, a global initiative to cultivate
on the identification families
of anfrom alternative version (isoform) Elli Weisbaum
mindfulness in education, established by Nobel Peace
countries with high rates of consanguinity (Pakistan
John Vincent
of the Rett syndrome and
protein,
Iran). MeCP2, identifying the first Prize nominee, scholar and Zen Master Thich Nhat Hanh.
Rett mutation in MECP2 exon 1. Dr Vincent’s group also She is currently pursuing her PhD at the University of Toronto
identified the gene PTCHD1 as a new X-linked gene for ASD. in the Institute of Medical Science and completing her
Dr Vincent also works on identifying autosomal recessive teacher training with Search Inside Yourself, an emotional
genes ID, through the study of families from countries with intelligence and mindfulness program.
high rates of consanguinity (Pakistan and Iran).You can also read
