Wolfson Institute for Biomedical Research
WIBR Seminar
‘Neuropathological and
phenotypic profile of familiar vs.
sporadic Alzheimer's disease’
Dr. med. Diego Sepulveda-Falla
The Institute of Neuropathology
Universitätsklinikum Hamburg-Eppendorf – UKE
Hosts: Professor David Sattelle / Dr Imran Haq
With more than 30 million affected people around the world, Alzheimer’s disease is the most prevalent dementia and a
rising public health challenge. Less than 1% of Alzheimer’s disease cases are hereditary, caused by mutations in
Amyloid Precursor Protein, Presenilin 1 and Presenilin 2 genes. Familial Alzheimer’s disease has been used as a
research model for the sporadic variant, including animal and cellular models with one or several mutant proteins in
order to reproduce the pathology. Furthermore, familial Alzheimer patients are considered as the ideal population for
Alzheimer’s therapy testing. In the last years we have characterized the largest population in the world carrying a
single Presenilin 1 mutation (E280A) for familial Alzheimer’s disease. With more than 600 affected carriers and more
than 100 collected brains, this population has allowed us to identify a wide range on phenotypic variability in its clinical
and pathological presentation. Currently we aim to identify how these variable phenotypes compare to the more
prevalent sporadic variant and their impact for Alzheimer’s disease models and therapies.
Biography:
I studied medicine at the University of Antioquia in Medellin, Colombia. During my pre-graduate years I got involved
with the regional initiative, lead by Dr. Francisco Lopera, to detect and characterize prevalent hereditary
neurodegenerative diseases in the Antioquian population isolate. I collaborated with the founding of a brain bank there
and thanks to that I got interested in the molecular and pathological basis of neurodegenerative diseases. With this
goal in mind I traveled to Hamburg, Germany and obtained a Doctor of Medicine degree at the Institute of
Neuropathology of the University Medical Center Hamburg-Eppendorf and have been working as a postdoctoral fellow
in there. In the last years I have been focused in the pathophysiological characterization of familial Alzheimer’s disease
and in the molecular biology of Presenilin-1, mostly in its gamma secretase-independent functions. I was recently
awarded with the Dr. Martini Prize for this research and appointed as junior group leader at the Institute of
Neuropathology.
Thursday 20th August 2015 4pm
The Wolfson Institute for Biomedical Research
st
1 Floor Cruciform Building, Cruciform Café
Gower Street
London, WC1E 6BT
www.ucl.ac.uk/wibr