katrina gwinn-hardy: what data should be collected on control
TRANSCRIPT
The NINDS Repository
Established 10-02Samples and Clinical data on
Parkinsons, Stroke, Epilepsy, ALSOver 3000 samples on affected,
controls, families with accompanying data
http://locus.umdnj.edu/ninds
Our Goal for Control Samples
Have enough clinical details to allow investigator to include those ideal for his/her studyAre “true” controls
Can be useful across multiple collectionsTend to be harder to accumulate than cases
Control Collections
Most Controls collections have minimal if any data
Population basedGender, age
OthersSame data as casesMay not allow broad use for other disease
entities?
A Review of the Literature
Oh no! there’s no statements on criteria for controls in genetics studies per se! Many studies don’t describe any clinical features, just demographics…..
Ask the experts
Spouses are great.. We insist on spousal controls….
Its so important…Controls need to be population.. And also…age and gender matched…
It doesn’t matter as long as you get a lot
use of spousal controlsWill lead to grievous errors
The next source of inspiration
Sailing“If you can’t tie good knots, tie a lot of them”Population based
Hard to getConvenience Controls
Not easy to getSpouse controls
Some feel they are terribleSome feel they are excellent (Very few are indifferent)
Data Collected
Demographic Age, Gender, Race
Type of control Unaffected Spouse
(indicate spouse diagnosis, ID)
Population Control Convenience
Medical History Alz, ALS, Ataxia, Autism, Bipolar,
Aneurysm, Cancer, Dementia, Depression, Diabetes, Dystonia, Epilepsy,,CAD, Memory Loss Migraine, MS, Muscle disease, PD, Schizophrenia, Suicide, Stroke
Family History Same disorders Relationship
Any other samples from family
Smoking Hx Who collected data
Neurologist, other MD, non-MD
Was the subject examined? Results of neuro exam
normal? MMSE
Current Control Data
No Neurological DiseaseDetailed Medical History
For those over a “certain age”, everyone has some medical history
No FH of Neurological DiseaseDetailed FH in first degree relatives
SmokingNormal Neurological Examination
Currently Collection
CollectedApproximately 1000
Available nowAbout 50
Available soon at a repository near youAbout 300
Positive Controls
Currently available (Catalogue): Known genetic variant
collection Subject with Parkin
homozygous deletion Subjects with alpha-
synuclein triplication (and at risk, not at risk family members)
Others as discoveries are made, collection expands