Scientific research of the ACAF (Claude St-Jean Fondation) :
Close to 6 million $ amassed have been invested in scientific research. We are right to ask ourselves what has been the use of all this money invested in medical research. Take a good look at this impressive list.
Screening – Analysis of Canadian families afflicted with ataxia : relatives as well as afflicted persons in Quebec, in the Acadian peninsula (N.B.) (identification, analysis the different symptoms and genetic cartography).
Molecular genetics (Friedreich’s Ataxia + Charlevoix-Saguenay Ataxia + SCA 1,SCA 2, SCA 3.
Genealogical studies of Quebecois families (genetic markers of FA and Charlevoix-Saguenay ataxia (ARSACS).
Study of cognitive troubles associated with recessive spastic Charlevoix-Saguenay ataxia.
Studies on mutant mice.
Biochemistry – metabolism – patho-physiology of diabetes.
Clinical projects (experimental trial of amantadine in collaboration with Italy, France and the United States.
Maintaining FA clinics in the participatory hospitals (Marie-Enfant, McGill, Chicoutimi, Quebec, Sherbrooke, Hôtel-Dieu of Montreal.). Neurological follow-up.
Pre-natal services (consultation and diagnostic tests).
Cardiologic and cardio-pulmonary evaluation and follow-up of patients afflicted with FA.
Post-mortem study on the metabolism of iron on the level of the heart + hepatic study.
Metabolic, radiological and neurochemical research.
Creation of a table of reference for Charlevoix-Saguenay spastic ataxia and Friedreich’s ataxia and a study of the families.
International Workshop on FA. (2) Putting together the research work on ataxia of several participatory countries + International Symposium of the Research Centre of Neurological Sciences concerning the cerebellar functions.
Neuro-psychological studies at the Hôtel-Dieu of Montreal on Friedreich patients, SCA 1, SCA 2, SCA 3 and ARSACS, aiming to evaluate different functions of the nervous system such as : concentration, memory, language, attention, verbal and non-verbal memory, coordination, movement precision, etc.
Multi-disciplinary approach on neurology, biochemistry, participation in the discovery of genes, orthopaedic cardiology, speech therapy, occupational therapy, social services and professional guidance for persons afflicted with ataxias.
Bursary holders working with ataxic families on their genealogy and the symptoms of unidentified forms of ataxia.
Medical equipment and professional services:
Computer operators (data processing)
Computer program for data processing
Molecular probes
Technicians for pre-natal diagnoses
Mice
Social services:
Eldorado
General Assemblies
Fundraisers:
Subscription campaign (stationery + stamps)
Functioning of the organization:
Salaries (subsidized for several years) + the accountant’s salary.
Small truck (Claude’s outings during the subscription campaign and the outings of various organizations all year long, the visits of ataxics and for the shopping for supplies.
Office supplies.
Results:
Good identification of the symptoms of ataxia and good neuro-psychological and physiological knowledge.
Greater visibility therefore better awareness. (to be followed up on)
Better knowledge of the means of transmission of several forms of ataxia (recessive and dominant)
Identification of several forms of ataxia and their genes.
Discovery of new forms of ataxia.
Post-natal diagnosis of ARSACS and of FA.
Increase in the number of participatory countries which are carrying out research.
Better understanding of ataxia on all levels (symptomatic, chemical, biochemical, genetic, neurological, etc.)
Greater screening.
Research centres :
Clinical Research Institute of Montreal – IRCM –
Marie-Enfant Hospital (Neuro-muscular diseases clinic)
Royal Victoria Hospital (diabetes)
CHUM of Sherbrooke (Dr. Bernard Lemieux) tissue bank.
Sainte-Justine Hospital
Montreal Neurological Institute (FA cerebellar metabolism)
Enfant-Jésus Hospital of Quebec
McGill University (ataxia clinic)
