We are entering an extremely exciting time in retinal research. Research projects have now advanced through basic research to first stage clinical trials where therapies are tested for how well they work, and for health and safety. The experimental therapies that advance through these first stages of trials then move on to second stage where applications of therapies to those affected become a real possibility.
Many of these therapies will rely on repairing the specific gene abnormality for each individual. This is why it is imperative that we identify the exact genetic profile of the estimated 3,000 people affected by a retinal degenerative condition in Ireland.
It is because of patients who volunteered in previous studies that we have today’s knowledge and understanding of retinal conditions, so it is vital that people with inherited retinal conditions join us now in this project. Only through working together can we improve methods of treatment and diagnosis with the ultimate aim of finding a cure.
Taking part in research can not only benefit you, but your family and future generations as well.
(Above picture – Champions of Target 3000: Dr. Paul Kenna, Prof. Jane Farrar and Mr. David Keegan.)
STEP 1: The first stage is to assemble a registry of patients who wish to participate in Target 3000. You can register for Target 3000 by phoning Fighting Blindness on 01-6789004 or emailing firstname.lastname@example.org.
STEP 2: Based on their suitability, the individual along with another affected family member (if available) and an unaffected relative will be asked to give blood samples. A short clinical assessment will also be performed. The blood sample will be sent directly to Trinity College Dublin (TCD) and held securely.
STEP 3: DNA will be extracted from the blood samples in TCD. The portion of the DNA which codes for genes is known as the “exome.” This comprises about 1-2% of the total DNA genome, but it contains the vast majority of disease causing mutations. The exome is “captured” from the DNA sample using a special technique by the researchers in TCD. A portion of the DNA sample is also kept in secure storage in TCD.
STEP 4: The captured exome is sent for next generation sequencing (NGS) to an accredited laboratory.
STEP 5: A raw, DNA sequence file is sent back for analysis in-house in TCD. A separate, secure server for storing these anonymised files and associated data has been purchased by TCD.
STEP 6: The patient and family will be informed of their causative mutation as soon as it is discovered.
STEP 7: These causative mutations will be added to the patient registry in order to match the clinical assessment data with a molecular diagnosis.
It’s often impossible to tell which specific type of retinal disease a patient has based on just looking at the eye, because inherited retinal diseases are some of the most complicated of all genetic conditions, involving more than 160 genes and 200 mutations.
Knowledge is power! Knowing which of your genes are affected and where the mutations occur in individual cases means arriving at a complete diagnosis. This information will lead to better future therapies and possible inclusions in future clinical trials.
We need you to spread the word—there is strength in numbers! The more people who sequence their DNA, the more knowledge we have about retinal diseases in Ireland.
Please register with Fighting Blindness by phoning our office on 01-6789004 or email email@example.com to express interest in or for any queries about Target 3000.