IFOND update 2013
The generous support of the donors to IFOND
continues to allow important progress in investigations of Leber's Hereditary Optic Neuropathy
(LHON). We have made 12 field trips to rural Brazil in order to study the largest LHON pedigree in
the world. These investigations have been fully described in previous reports.
They have also led to
approximately 16 peer-reviewed publications and approximately 55 Association for Research in Vision
and Ophthalmology (ARVO) annual symposium presentations. These investigations and publications
have changed the face of LHON as studied, taught and clinically treated.
As an example, Alfredo A. Sadun, who led the IFOND sponsored Brazilian/
LHON studies, was chosen this year to give keynote lecture 2 at the 2013
European Association for Vision and Eye Research [EVER] Congress
in Nice, France. Dr. Sadun's keynote speech was on September 20, 2013, and is entitled:
"Why The Optic Nerve is the Canary in the Coal Mine",
and will expand on new understandings based on the LHON research of the mechanisms by
which LHON damages the optic nerve and causes blindness. Dr. Sadun
also gave a regular invited lecture on September 19 at EVER entitled:
"New Concepts of Treatment for
Mitochondrial Optic Neuropathies Such As Leber's Hereditary Optic Neuropathy". This will be primarily
about the use of EPI-743, a third generation quinone developed and used by his team at USC and
supported by IFOND.
Additionally, Dr. Valerio Carelli, also a lead investigator in the IFOND sponsored Brazilian/LHON studies,
was a speaker at the same EVER meeting on September 19. His talk entitled:
"The Unsolved Genetics of
LHON", explains his work uncovering the environmental and genetic reasons for the variable
expression of disease in LHON carriers. Hence, the work sponsored by IFOND not only will be prominent for the neuro-ophthalmology
part of the meeting, but is highlighted as the most significant of investigations in vision research
altogether. This has drawn much attention, including that of Stealth Peptides, a Boston based new
mitochondrial pharmaceutical firm that will be sending several of their scientists to France to attend
these talks on the mitochondrial mechanisms of blindness.
Dr. Sadun is also being honored by the Brazilian Ophthalmological Society in a special symposium
organized in Sao Paolo, Brazil. His award will be given February 15, 2014. This date will probably set the
nidus for the next field investigation in Brazil, with the team expected to attend Dr. Sadun's lecture and
ceremony, and then continue on to Colatina, Brazil.
This year, IFOND began sponsoring a one year fellowship for R. Karanjia MD, Ph.D., at the Doheny Eye
Institute in Los Angeles, California. The fellowship will have a focus on LHON. Dr. Karanjia has been
working with Jeffrey Tran, a medical student at USC, to arrange the database from the Brazil/LHON
studies in the most useful way. Tran received his degree at Stanford on electronic data analysis and
brings many sophisticated ideas for this project. They have assembled a team of 8, including several
post-doctoral fellows and medical students who are spending the year in Dr. Sadun's laboratories.
Working in parallel teams, they are constructing a huge database that can cross reference many of the
variables such as ocular conditions from LHON patients and carriers that were researched in Brazil. This
work is calculated to conclude in June, 2014, with conclusions to be drawn at that time.