MEDICAL & RESEARCH

Medical and Research project of PFFB is serving as a focal point for the dissemination of information to affected families, specialists and the society at large about genetically inherited eye diseases such as Retinitis Pigmentosa (RP) and Allied Retinal Dystrophies.

Research Work:

  • In 1993 Dr. Michael J. Denton, Senior Research Fellow in OTAGO University New Zealand was invited to Islamabad to examine the prospects of collecting Pakistani families with Retinitis Pigmentosa (RP) for gene mapping research. Dr. Michael J. Denton appreciated the size of the PFFB’s data bank of pedigrees with eye diseases and the size of individual pedigrees some of which were highly suitable for gene mapping purposes. The Foundation’s research team located a large recessive RP Pedigrees from near Attock. Blood specimens from this family were sent to Andreas Gal’s lab in Hamburg and the gene responsible for the disease was identified. 
  • A two years project for collection of seven families was funded by Trust Voluntary Organization (TVO) in collaboration with Khan Research Laboratory (KRL). Instead of seven, thirteen families were collected/ documented during the project period 1995-1997. 
  • Encouraged by this preliminary success Dr. Michael J. Denton returned to Islamabad in early 1998 and prepared a submission for research funding, which was submitted to Foundation Fighting Blindness USA (FFB). The submission was entitled “The collection of 10 large recessive RP pedigrees from Pakistan suitable for gene mapping purposes.” The submission proposed that during the year June 1998 – 1999 the PFFB would organize the collection of 10 large RP Pakistani pedigrees suitable for gene mapping purposes and send blood specimens for analysis to Professor Dr. Edwin Stone’s lab in the University of IOWA (USA) and to Dr. Denton’s lab in the University of OTAGO, NZ. The submission was successful and the work described in the proposal was successfully carried out. Because the work went so well and because of the exceptional quality of the pedigrees being collected it was obvious that by December 1998, it would be worthwhile continuing the project for another three years. Consequently in February 1999 Dr. Michael J. Denton prepared a follow up submission to the US Foundation entitled “The collection of 30 large recessive RP pedigrees from Pakistan suitable for gene mapping purposes” which aimed at obtaining another three years funding to continue the project until June 2002. The submission was successful and 30 very impressive RP pedigrees were collected successfully over the next three years from all over Pakistan. Most of the work involved in collecting the pedigrees was carried out by Dr. Michael J. Denton, Captain Maqbool Ahmed Project Director PFFB Medical & Research Team, Professor Dr. Aslam Malik (currently at SHIFA International Islamabad) and Professor Mehtab Sindhi of the Zoology Department of the University of Sindh, Pakistan with logistic help at all times from the PFFB. Altogether the set of 40 families represents one of the best resources available anywhere for elucidating the genetic causes of inherited Retinal Disease in man. Its satisfactory completion is a testimony to the dedication and professionalism of the staff of the PFFB. 
  • Since the completion of the pedigree collection in June 2002, the pedigrees have been subjected to gene mapping studies at the University of OTAGO New Zealand and in the University of IOWA U.S.A. To date the mutation has been determined in 6 of the 40 families collected. The first research reports have already been published. These studies will be continuing over the next few years until the genes responsible for the disease in the majority of the 40 families have been identified. 

Project's Highlights:

  1. Is involved in collection of families since 1995. 
  2. Has a database of more than 12,000 visually impaired individuals, which is being   updated and enhanced. 
  3. Has more than 600 families with three affected persons in each family. 
  4. Has more than 100 families having five or more affected persons in each family.
  5. Already collected 53 RP families.
  6. Collected 40 arRP families in collaboration with Dr. Micheal J. Denton, Senior Research Fellow, Otago University, Dunedin, New Zealand (Principal Investigator); Ms. Marion Maw, Otago University and Prof. Edwin Stone, Iowa University, U.S.A. The four-year Project was funded by US Foundation Fighting Blindness.

Publications & Posters:

  1. In 2001, the first paper based on data collected by PFFB was published in the prestigious Ophthalmic Genetics Science Magazine of USA. 
  2. First Poster entitled “Molecular genetic analysis of the CRX gene in a Pakistani family with an Autosomal Recessive Retinal Disorder” presented at Retina International Meeting, Perth IN August 2004. 
  3. Second Poster based on PFFB identified family was presented at the 15th Annual Queens town Molecular biology Meeting, Queenstown, New Zealand, in August 2005.

National Symposium, Seminars & Lectures:

  1. Ever since the Foundation came into existence, continuous endeavors have been made to invite Bio-geneticists to make presentations on Retinitis Pigmentosa and Allied Retinal Dystrophies. Some of them are enlisted below:
  2. Pakistan Retinitis Pigmentosa Society (PREPS) Symposium at Pakistan Agriculture Research Council Auditorium (PARC) Islamabad, 6th October 1994. 
  3. Presentation by Dr. Shomi Bhattacharya Head of Genetic Research Division in University College London, at Khan Research Lab (KRL) Laboratory Islamabad, May 14th 1996. 
  4. Symposium at Sheikh Zaid Hospital Lahore organized by Lahore Chapter of Pakistan Foundation Fighting Blindness, 17th November 1997. 
  5. Lecture on “Commitment to find a Cure for RP; Genetics & other Approaches” by Dr. Michael J. Denton at Institute of Chartered Accountants of Pakistan (ICAP) Building Islamabad, March 20th, 1998.
  6. First International Seminar on Reinitis Pigmentosa & Allied Retinal Dystrophies, Islamabad, 6th-7th June 2006.