TheMal
t
aBi
oBankand
t
heMal
t
es
eGenomePr
oj
ec
t
AFi
ot
t
,
JVel
l
a,
CMi
z
z
i
,
AEFel
i
c
e
Mal
t
aBi
oBank
,
L
abor
at
or
yofMol
ec
ul
arGenet
i
c
s
,
Depar
t
mentofPhy
s
i
ol
ogyandBi
oc
hemi
s
t
r
y
,
Uni
v
er
s
i
t
yofMal
t
a,
Whati
st
heMal
t
aBi
oBank?
TheMal
t
aBi
oBanki
st
hef
i
r
s
tnat
i
onalar
c
hi
v
eof
DNA,bl
ood and ur
i
ne s
ampl
es
.I
ti
sa v
i
t
alt
ool
t
o di
s
c
ov
ernew genesl
i
nk
ed t
o many c
ompl
ex
di
s
or
der
s
,andt
ohel
pi
dent
i
f
ydi
s
eas
ec
ondi
t
i
onsat
anear
l
i
ers
t
age.Thi
smayl
eadt
ot
hedev
el
opmentof
new c
ur
esf
ordi
s
eas
ess
pec
i
f
i
ct
oMal
t
a.Thes
uc
c
es
s
oft
hebi
obankdependsont
hepubl
i
c
’
spar
t
i
c
i
pat
i
on.
TheMal
t
aBi
oBankhast
womai
nar
ms
:t
hec
l
i
ni
c
al
bank
,whi
c
hi
sus
ed f
ordi
agnos
t
i
cand r
es
ear
c
h
pur
pos
es
,and t
he popul
at
i
on bank
,whi
c
hi
s
us
ed mai
nl
y f
orr
es
ear
c
h pur
pos
es
.The c
l
i
ni
c
al
bank i
nc
l
udest
he f
ol
l
owi
ng c
ol
l
ec
t
i
ons(
among
ot
her
s
)
:t
he Type 2 Di
abet
esMel
l
i
t
usCol
l
ec
t
i
on,
Gl
obi
n Bank
,t
he Geopar
k
i
ns
ons
’ Col
l
ec
t
i
on
and t
he “
Heal
t
hy” S
eni
or Ci
t
i
z
ens Col
l
ec
t
i
on.
Fi
gur
e3:Whol
ebl
oods
ampl
es
s
t
or
edi
nt
hebi
obank.
A number of s
t
udi
es have been c
ar
r
i
ed out
us
i
ng s
ampl
es s
t
or
ed i
n t
he Mal
t
a Bi
oBank
.
Among t
hes
ei
st
he di
s
c
over
y ofa nons
ens
e
mut
at
i
on (
p.
K288X) i
n t
he KLF1 gene (
1)
.
Fi
gur
e4:Par
toft
he
Mal
t
aBi
oBank’
ss
t
or
age
f
ac
i
l
i
t
y
Fi
gur
e5Anal
ys
i
sofbl
oods
ampl
es
.
Whati
st
heMal
t
es
eGenomePr
oj
ec
t
?
The Mal
t
es
e Genome Pr
oj
ec
ti
sa new c
ol
l
ec
t
i
on of
bi
ol
ogi
c
als
ampl
esand as
s
oc
i
at
ed heal
t
hi
nf
or
mat
i
on
f
r
om 1% of t
he Mal
t
es
e popul
at
i
on (
about 4,
200
i
ndi
vi
dual
s
)
.The c
ol
l
ec
t
i
on wi
l
lbe bas
ed on Mal
t
es
e
f
ami
l
i
est
ober
epr
es
ent
at
i
veoft
heMal
t
es
epopul
at
i
on.
Fi
gur
e 1: An exampl
e of genet
i
cs
equenc
e
anal
ys
i
sc
ar
r
i
ed outf
ort
hei
ni
t
i
alpi
l
otpr
oj
ec
t
.
Fi
gur
e2:Anexampl
eoft
he
human genome obt
ai
ned
f
r
om Compl
et
e Genomi
c
s
.
Thepi
l
otpr
oj
ec
ti
si
npr
ogr
es
s
.Thedat
at
hati
sbei
ng
anal
ys
edr
eveal
sor
i
gi
nsandmobi
l
i
t
yoft
hepopul
at
i
on,
i
nc
i
denc
eandf
r
equenc
yofher
edi
t
ar
ydi
s
eas
ei
nc
l
udi
ng
s
ome c
anc
er
sand whi
c
h medi
c
i
neswoul
d be mos
t
us
ef
ul and l
eas
t danger
ous f
or Mal
t
es
e pat
i
ent
s
.
The par
t
i
c
i
pat
i
on of t
he publ
i
c i
n t
he Mal
t
es
e
Genome Pr
oj
ec
t i
s enc
our
aged. For mor
e
det
ai
l
s pl
eas
e vi
ew t
he Mal
t
a Bi
oBank web s
i
t
e
www.
um.
edu.
mt
/
bi
obank orf
i
nd t
he c
ont
ac
t
sbel
ow.
Ref
er
ences
:
1.
Bor
g,
J
.
,
Papadopoul
os
,
P.
,
Geor
gi
t
s
i
,
M.
,
Gut
i
ér
r
ez
,
L
.
,
Gr
ec
h,
G.
,
Fani
s
,
P.
,
etal
.
(
2010)
.
Hapl
oi
ns
uf
f
i
c
i
enc
yf
ort
heer
y
t
hr
oi
dt
r
ans
c
r
i
pt
i
onf
ac
t
orKL
F1c
aus
esher
edi
t
ar
yper
s
i
s
t
enc
eoff
et
al
hemogl
obi
n.
Nat
ur
eGenet
i
c
s
.
Mal
t
aBi
oBankc
ont
ac
tdet
ai
l
s
:
j
oanna.
v
el
l
a@um.
edu.
mtoral
ex
andr
a.
f
i
ot
t
@um.
edu.
mt
;Webs
i
t
e:
ht
t
p:
/
/
www.
um.
edu.
mt
/
bi
obank