Transcript Personalized Hearing Devices

Personalized Hearing Devices
Translational and Personalized
Medicine Initiative
Research Day Oct 8, 2015
Personalized Hearing Devices
• Dr. Terry Young, Genetics, Memorial University
• Principal Investigator
• Dr. Susan Stanton, Hearing Science and
Audiology, Western University, Co- PI
• Dr. Ian Bruce, Auditory Engineering Laboratory,
McMaster University, Collaborator
• Anne Griffin, Audiologist and Research Associate, Young Lab
Personalized Hearing Devices
• HEARING LOSS:
– very common
– highly genetic condition
• To date, more than 100 genes implicated in
hearing loss
• Most genetic hearing loss caused by single
mutation
Personalized Hearing Devices
• Young Lab discovery projects over last 12 years:
• Founder Population of Newfoundland and
Labrador
• Over 200 probands with hearing loss
• Many large multiple-generation pedigrees
• Many family members willing to help
– motivated by the potential for a better future for
people with hearing loss
Personalized Hearing Devices
GENE
DNA CHANGES
TYPE
TMPRSS3
c.782+3delGAG
WFS1
c.2146 G>A
Missense
PCDH15
c.1583 T>A
Point Mutation
KCNQ4
c.806_808delCCT
Deletion
GJB2
GJB6
c.35delG
c.del D13S1830
Frameshift
c.782+3delGAG
Frameshift/SNP
c.101 T>C
Large Deletion
MTRNR1
Point Mutation
A1555G
SMPX
c.99delC
Frameshift
COCH
c. 208 C>T
Missense
TECTA
C.2657A>G
Missense
GJB3
c.94C>T
FOXL1
c. 976_990del
c.70T>A
c.94C>T
Missense
Deletion
PERSONALIZED HEARING DEVICES
• What translational opportunities are
generated by these discoveries?
• Hearing aids most common treatment for
permanent hearing loss
• Major advances in technology with
introduction of digital signal processing
• Vastly more potential than is currently utilized
Personalized Hearing Devices
• The trouble with hearing aids…….
- they don’t do enough for HEARING
- informed by VERY limited auditory data
- there is huge digital capacity
BUT
No Clear Rationale for
how to PERSONALIZE
Personalized Hearing Devices
Personalized Hearing Devices
• Good News: Other measurements of auditory function
are available!
• Cost prohibitive to determine develop detailed auditory
profiles through these tests alone
• Greatest difficulty: heterogeneity of hearing loss
• Need population(s) with homogenous hearing loss
• Even Better News:
We have homogenous populations!
Personalized Hearing Devices
• Phase 1: Infrastructure and proof of concept studies
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Subjects: 3 families: known genetic cause of hearing loss
Translational Genomics Hearing Research lab in GFW
Deep phenotyping studies
Computer modelling of detailed auditory profiles
• Phase 2: Industrial partner, new hearing aid algorithms
• To address specific functional deficits
• Test on family members
• Test on other populations for generalization of technology
WFS1
2005.A020
Site: GFW
Age: 35 yrs
TEN
500
750
1000 1500 2000 3000 4000
Unmasked
58
58
54
56
48
28
16
TEN level
70
70
70
70
70
70
70
masked
84
82
78
76
74
72
64
TEN
500
750
1000 1500 2000 3000 4000
Unmasked
62
64
58
52
50
34
18
TEN level
70
70
70
70
70
70
70
masked
88
86
78
74
70
72
68
Personalized Hearing Devices
Many thanks to :
all the participating families
all our volunteers and supporters
Town of Grand Falls-Windsor/ Excite Corporation:
Partner and grant proponent.
Funding agencies are acknowledged unofficially
(pending formal announcement of project)