2. 1980-2013 a road that ignored
personalized diabetic medicine, far
from any precision treatment
v In 1980 overweight diabetic patients were
treated differently than normal weight patients.
v Today all diabetics receive metformin and if
(when) doesn’t work there is no agreed
guidelines.
v The road is dominated by drug company new
products.
7. Role of the ATP-sensitive
potassium channel subunits Kir6.2 and ABCC8/
SUR1 in insulin secretion
KATP channels close
Membrane
depolarization
Ca2+ influx
Insulin secretion
ATP/ADP
Glucose entering
Gloyn et al., N Eng J Med, 2004
Babenko et al., N Eng J Med, 2006
SUR1 = sulfonylurea receptor
8. => >95% patients with a mutation in a potassium channel gene
can be successfully switched from insulin injections to more
efficient oral sulfonylurea treatment.
ABCC8 (SUR1) is the sulfonylurea
receptor
Sulfonylureas
9.
10.
11. Until
Today:
sequencial
gene
after
gene
screening
(Sanger)
2013:
Targeted
Resequencing
of
all
known
diabetes
genes
Microdroplet
based
PCR
and
Next
Generation
Sequencing
(Raindance)
12.
13. ü In every child with diabetes before 6
months of life
ü In every diabetic child proven negative
for insulin or gad antibodies (markers for
type 1 diabetes)
16. Intérêt clinique du diagnostic des formes
monogéniques de diabète
La médecine personnalisée du diabète
existe et peut conduire à la “guérison”
définitive de l’hyperglycémie
En 2014 la révolution du séquençage du
génome permet le diagnostic
étiologique de tous les diabètes
“atypiques”
20. Elucidation of causes of
diabetes in families/
patients
Diabetes genetic
modeling
T2D Genetic Modellng
21.
22. How to pave the route
towards Personalized Diabetic Medicine ?
Bio bank
Somatic stem cells from
PBMC
Generation of iPS derived
cells and for patients’ beta
cells/hepatocytes/muscle
28. ¡ Les
nouvelles
méthodologies
génétiques
permettent
une
caractérisation
génétique
des
diabètes
familiaux
et
améliorent
leur
prise
en
charge
¡ Le
séquençage
du
génome
et
les
cellules
souches
reprogrammées
permettent
d’avancer
vers
une
véritable
médecine
personnalisée
des
diabètes
et
de
leurs
complications