Aniridia Network Conference 2018 in UK
ANUK (https://aniridia.org.uk) Conference 2018 was held on Saturday 14 April 2018 in London. It ran from 10:00am until 5:15pm with breaks for lunch and afternoon refreshments.
The program of the aniridia conference 2018 in UK:
§ 09:15 Registration
§ 10:00 Welcome – James Buller
§ 10:05 Research into possible drug treatments – Dr Mariya Moosajee
§ 10:40 Aniridia Network Annual General Meeting
§ 11:10 PAX6 research at Liverpool University – Thanos Papadimitropoulos
§ 12:00 Lunch & exhibition
§ 13:00 Explanation of Access to Work – Geoff Taylor Meade
§ 13:30 Visual impairment, depression & mental health services – Dr Ian Petch
§ 14:30 Introduction to Nystagmus Network – Sue Ricketts
§ 15:00 Refreshments & exhibition
§ 15:45 Living with Aniridia – Fern Lulhum
§ 16:15 Sleep and eye disease – Dr Iona Alexander
§ 16:45 Psychological impact of aniridia – Effie Papadopoulou MSc
§ 17:15 Close
1)James Buller greeted everyone at the conference and noted that at this conference we had many doctors and patients from different countries : Greece (Olga Karageorgou and Dr.Thanos Papadimitropoulos), Bulgaria (Elena Thoneva), Russia( Dr.Natella Sukhanova and secretary of Aniridia Europe Galina Gening), South Korea (Dr.Lim Hyun Taek,the speaker from last aniridia conference in Germany), the Netherlands(Effie Papadopoulou), Egypt(Galina Gening)
2) Dr. Mariya Moosajee heads a research team across UCL Institute of Ophthalmology and Moorfields Eye Hospital NHS Foundation Trust developing new treatments. Dr. Mariya Moosajee is International expert in genetic eye disease, with a focus on establishing a molecular diagnosis for patients to improve genetic counselling. Also she is medical advisor for the Microphthalmia, Anophthalmia, and Coloboma Support (MACS) Charity (http://macs.org.uk) and Aniridia Network UK (https://aniridia.org.uk).
She spoke about importance of establishing the genotype-phenotype relationship through clinical deep phenotyping studies to identify optimal therapeutic windows and outcome measures for clinical trials, patient risk stratification as significant rates of systemic disease association to ensure the appropriate multidisciplinary clinical pathways for best patient care. “Why in one family with the same type of mutation are different clinical phenotype of aniridia? We will certainly find the answer for this question”, she noted. “Full genetic sequencing will help to answer this question. In future we can predict not only WAGR syndrome or pancreatitis, or mental retardation but also much more”...
Her scientific work is a development of novel therapeutic approaches for genetic eye disease including nonsense suppression therapy: ataluren, PTC-derivatives, NB compounds and amlexanox.
She talked about START therapy of Dr. Sheryl Gregory-Evand and her experiment with 40 aniridic children with NONCENC mutations what will end in December 2019. And she lays very big hopes on this experiment. On the other hand she began to approbate a new drug similar to ataluren called AMLEXANOX. In her opinion amlexanox is able to stimulate PAX6 gene to produce more protein then ataluren. All the experiments were held on zebra fish.
Her e-mail is mariya.moosajee@moorfields.nhs.uk
3. Aniridia Network Annual General Meeting
Katie, James and Martin talked about the organization of events in 2016-2017 and 2017-2018 , about membership, cooperation with patients and doctors, about volunteering and development on ANUK. Also was provided a financial report. A new trustee was chosen by open voting.
4.Thanos Papadimitropoulos from Liverpool University talked about developing new approaches to therapy for aniridia.
The presentation was about how scientists from the Department of Eye & Vision Science at the University of Liverpool are trying to develop a gene-based therapy for aniridia. Their team, including Prof Colin Willoughby, Dr Kevin Hamill and PhD student, Thanos Papadimitropoulos in collaboration with Dr Sajjad Ahmad (Institute of Ophthalmology UCL), are looking at the PAX6 gene and how to increase its expression level.
Their aim is to adjust the activity of specific, small non-coding RNAs called microRNAs (miRNAs) which regulate protein levels. They are working to develop a novel, preventative or disease-modifying miRNA-based treatment for aniridia patients (MiRAN) with early corneal pathology. It is intended that the treatment will involve a simple eye drop which the patient can administer themselves. This has the real potential to prevent progressive corneal blindness.
Now they try in their laboratory to use MORPHOLINOS (this is a type of oligomer molecule used in molecular biology to modify gene expression) for the treatment of aniridic keratopathy. Morpholinos penetrates well into the cells and can be the basis for treatment of aniridic keratopathy.
5.Next presentation “Explanation of Access to Work” was made by Geoff Taylor Meade. He explained the government program of Department for woek and pensions (https://www.gov.uk/government/organisations/department-for-work-pensions) how do they help for people with disabilities in UK to find a job.
For each disabled person they make a personal plan for 6 months with any small details when they registering this person for work at which he would like to work and which they helped him to find.
-They allocate grants for employers who provide places for disabled people;
-They teach the disabled people to use special devices what could help them in their work;
-They help the disabled person during his interview ;
-They help the disabled to attend their work .
6. Visual impairment, depression & mental health services – Dr.Ian Petch director of Psychology and psychotherapies department from South West London and St.Georges Mental Health NHS .
He studies the links between vision impairment and depression. Scientists came to the conclusion that people with chronic or long depression live for 10 years less.
Today 75% of people with depression do not receive any treatment. And it’s quite obvious that we need a special system for working with the visually impaired people which are in a state of chronic or prolonged depression because the state of depression of this people can due to the characteristics of their disease.
7. Sue Ricketts introduced the organization which supports patients with nystagmus in UK - Nystagmus Network. She invited everybody to an annual meeting (Open Day) which will be held in Bermingham on September 29th.
8. Living with Aniridia – Fern Lulham
Fern Lulham has aniridia herself and .she is a motivational and educational speaker, who trains, inspires and coaches others to live a more fulfilling, confident and happy life. Fern strongly believes in the value of promoting emotional life experiences as a way to connect people. Fern is a lady with a voice as powerful as her message. With a background in radio broadcasting, a love of entertaining and a huge amount of personality, Fern was speaking with humour, sarcasm and captivating sincerity all at the same time. Her presentation was amazing. It was so uplifting, full of positivity and hope for all aniridic patients.
Some of her quotes:
“When we can’t see we live in a world of fears … The same feelings are experienced by parents of children with aniridia...They constantly live in a world of fears and worry about the present and future of their children with aniridia. This is a big challenge! But today parents of kids with aniridia are lucky then parents who lived 20 years ago. Today we have Aniridic Associations, we have doctors and scientists who work on aniridia fieled and can regularly exam aniridic kids and adults…”
“Hope is a very important psychological condition… Depression comes when hope disappears…”
“We are all waiting for confidence, stability and happiness. So we all should find in our lives something that will give us confidence and joy”.
Her e-mail is fernlulham@gmail.com
http://www.fernlulham.webs.com
9. Dr Iona Alexander was talking about connection between Sleep and eye diseases. She examined about 500 patients with cataracts and glaucoma and most of them had sleeping problems. We all know that patients with aniridia can have reduced production of the melatonin and this also can cause sleeping problems. Dr. Iona noted that blind patients day by day wakes up later and later because eyes are also included regulation of sleep and wakefulness. So the sleep regimen for such patients can gradually change.
10. Psychological impact of aniridia – Effie Papadopoulou MSc
Effie noted, that the study of the psychological affect of aniridia is very important as well as algorithms of psychological support of patients with aniridia and parents of children with aniridia. This knowledge should be included in clinical recommendation along with the recommendation of ophthalmologists and geneticists. Rare diagnosis with no psychological support can cause many negative psychological states.
Evening Event .
Afterwards there was an optional evening event - social time, pizza and lesson from goalball club at Haverstock School in Chalk Farm.