International conference "Making a miracle" in America, July 31-August 4 2013.

7th  International  "Making a miracle" conference 31July-4 August  in America,  Virginia,  Charlottesville was hosted by  Aniridia  Foundation International (AFI) and the University of Virginia  Department of Ophthalmology.  The conference theme is  Bridging the Gap between Research and Clinical Care.

During all these years, Aniridia Foundation International   headed by Jill Nerby, has done a great job!  They created AFI Medical Registry and Gene Bank for  people with aniridia, collected a huge number of doctors and scientists which are exploring aniridia like syndrome, and study mutation of Pax6 gene,  which cause aniridia.

The conference collected record for the last 6 conference number of speakers (49 persons), which came from different countries: England, Canada, Spain, Italy, Israel, from different U.S. states.

Many of the data and scientific researches from  the information that was represented by scientists and doctors are still unpublished.


1. James Lauderdale, Ph.D. is an Associate Professor in the Department of Cellular Biology, Adjunct Associate Professor in the Department of Genetics,and faculty in the Neuroscience Division of the Biomedical and Health Sciences Institute at the University of Georgia,Chair, AFI Scientific Board. His research program is directed towards understanding how the human eye and brain are formed and maintained, and the role that PAX6 gene plays in these processes. He has been actively studying aniridia for over 17 years. In addition to investigating the different types of DNA alterations that give rise to aniridia, his laboratory has been examining the effects that these alterations have in the eye, brain and endocrine system, including endocrine cells of the gastrointestinal tract and pancreas. In collaboration with Dr.Anthony Moore, his laboratory is using their knowledge of PAX6 function and aniridia to develop potential cell-based therapies to treat aniridic keratopathy and glaucoma. In the conference he presented 2 reports:" Genetics and PAX6" and "Summary data for PAX6 mutation testing".

2. Phillip Anthony Moore, DVM, Diplomate ACVO , is an Associate Professor in the Department of Small Animal Medicine and Surgery at the University of Gergia College of Veterinary Medicine. His primary research interests are aniridia and the anterior segment of the eye. He currently working with Dr.James Lauderdale to develop cell-based therapies that can be used to treat aniridic keratopathy and glaucoma. In conference Dr. Moore presented report "Genetic modification, expansion, and transplant of limbal stem cells as possible treatment option for aniridic keratopathy". 

3. Young researchers who work in a research group under the guidance of James Lauderdale, gave two presentations: "Aniridia, Pax6 and endocrine system."  (Kenji Johns)  and   "Neuroimaging and Pax6: investigating Functional Signatures of Sensory Processing in Aniridia." (Anastasia Bobilev).

4.Kristen Heinan, M.D. Assistant Professor of Department of Neurology, Division of Pediatric Neurology, University of Virginia. She presented  report " Brain Development and PAX6".

5.Toni I. Pollin, MS, Ph.D. Associate Professor, Departments of Medicine and Epidemiology and Public Health, University of Maryland School of Medicine presented report "PAX6,Aniridia, and Diabetes: What is the Connection?"

6. Professor Ruth Ashery-Padan,Ph.D. from  Israel,  Department of Human Molecular Genetics and Biochemistry , Sackler School of Medicine and Sagol School of Neuroscience, Tel Aviv University.  She presented 2 reports: "PAX6: A multi-level regulator of eye development" and "The role of PAX6 in pancreas development and disease."

7.Joan C.Han, M.D. Assistant Clinical Investigator in Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Heals, Bethesda.  Her report at this conference about hormonal and metabolic studies in patients with WAGR syndrome and isolated aniridia: "Hormones and Metabolism in PAX6 haploinsufficiency".

8. Cheryl Gregory-Evans Bsc.,Ph.D.  from Canada,  Associate Professor in Ophthalmology, Department of Ophthalmology and Visual Sciences  University of British Columbia  Eye Care Center. Her research interest over the past 20 years has been in the identification of molecular and cellular defects causing eye disease, principally affecting the retina and more recently affecting eye development in conditions such as ocular coloboma and aniridia. She recently established the first zebrafish facility at UBC and this has been the platform for testing novel therapeutic strategies for eye disease.  She presented  2 reports: "Pre-clinical development of START (Sodium chloride, Tween 80, Ataiuren, caRboxyme, Thylcellulose) therapy in a mouse model of aniridia" and "Delving into regulation of foveal development in aniridia".

9.Professor of Ophthalmology Kevin Gregory-Evans M.D.Ph.D.FRCOphth FRCSC from Canada Department of Ophthalmology and Visual Sciences University of British Columbia, Director of the Foundation Fighting Blindness Canada and chairs the Foundation's Patient Registry Steering Committee. He is a world authority on genetic factors in retinal eye disease and currently leads a federally funded team to identify new combination therapies for retinal degenerative disease. He has published over 100 peer review research and review articless on retinal disease. He presented report  "START therapy, a multicenter clinical trial of a novel therapy for aniridia". This presentation about the planning of a proposed clinical treatment trial for aniridia, which will be based in the USA, Canada and the UK.

10. Professor Melinda K. Duncan, Ph.D., Graduate Program Director  in a Department of Biological Sciences at University of Delaware, AFI Scientific Board Member . Her research inerests are in ocular development,congenital eye diseases, and the side effects of ocular surgeries. Ongoing projects in the laboratory include studies on the function of cell adhesion molecules and transcription factors in lens development and posterior capsular opacification, the most common side effect of cataract surgery. She has studied the role of PAX6 in lens and corneal development in the past, and is now investigating the pathogenic mechanisms underlying aniridia fibrosis syndrome ( AFS), a visually devastating side effect of ocular surgery experienced by aniridia patients. She presented 2 reports: "Preliminary laboratory studies on Aniridia Fibrosis Syndrome (AFS)" and "The role of Smad interacting protein1 (Sip1) gene in regulating genes associated lens formation".

11. Elizabeth Simpson,Ph.D. from Canada , Senior Scientist at the Center for Molecular Medicine and Therapeutics, a Professor in the Department of Medical Genetics, and Associate Member in the Department of Psychiatry at the University of British Columbia , Vancouver. Her approach is to study genetics, neurogenesis, and behavior in mouse models and translate that to therapy. She and her lab are currently working on the development of gene-based delivery of proteins; also known as "gene therapy". The expectation is that a clearer fundamental understanding of the central nervous system in mice will  lead to new and improved gene-based therapies for humans with conditions such as the "blindness aniridia" and mental illness "bipolar disorder". She presented report " Towards aniridia gene therapy".

12. Robert Chow,Ph.D.  from Canada, Associate Professor of Department of Biology at University of Victoria, BC . Much of his work has been devoted to understanding how retinal neuronal subtype diversity is generated through transcription factor coding and cell-cell signaling. He is also interested in how PAX6 expression is regulated at a post-transcriptional level by microRNA's during development and in the adult. His report  "MicroRNA  regulation of PAX6 expression"  was focused on our recent efforts to identity the cohort of microRNA's that target PAX6, and on the genetic and in vivo approaches we are using to examine the biological relevance of this regulation. The ability to elevate endogenous PAX6 levels through microRNA deregulation represents a potential approach to treat individuals with aniridia.

13.  Robert Grainger,Ph.D.  W.L. Lyonns Professor of Department of Biology at University of Virginia,  AFI Scientific Board Member.   His research has focused on development of vertebrate eye, particularly emphasizing the mechanisms by which the lens and retina of the eye are formed at very early stages of development when cells first become committed toward particular fates (forming in an irreversible way different tissues in the body). Current research involves trying to understand the genes controlling early eye development and its relationship to aniridia and other human eye disease. Also, he study  how PAX6 may affect other tissues than the eye in the aniridia syndrome, leading to serious problems with metabolism and obesity. He present report "Insights from the amphibian Xenopus: A powerful model for studies of human congenital eye gene mutations".

14. William Klein,Ph.D   is a Professor and Chairman of the  Department of Biochemistry and Molecular Biology at The University of Texas M.D. Anderson Cancer Center . His research has provided basic insights into how retinal ganglion cells grow and survive and his work has implications for clinical application in ocular diseases associated with ganglion cell death and optic nerve degeneration. In his presentation "Transcriptome of Athoh-7-expressing retinal progenitor cells identifies new regulatory genes for retinal ganglion cell development" Professor Klein  described recent work from his laboratory characterizing the properties of the progenitor cells that give rise to retinal ganglion cells and  identifying a novel genetic pathway  leading to retinal ganglion cell development.

15. Professor Tom Glaser,M.D.,Ph.D  from the Department of Cell Biology and Human Anatomy , University of California, Davis School of Medicine has researched the genetics of vertebrate eye development and causes of human congenital eye malformations for 25 years. His laboratory has identified gene mutations causing a variety of human eye dieases, including aniridia; retinal vascular and optic nerve malformations, and microphthalmia-anophthalmia-coloboma (MAC) spectrum disorder.  In his presentation "Retinoid pathway defects in hereditary eye malformations"  Professor Glaser described recent work on human eye malformations caused by genetic defects in retinoid (vitamin A) metabolism and maternal-fetal nutrition, which suggest potential therapeutic interventions.

16. Professor Veronica van Heyningen,DPhiL FRS FRSE FMedSci  from UK  is Honorary Professor and Visiting Scientist at MRC Human Genetics Unit, IGMM, University of Edinburgh and also at Institute of Ophthalmology, University College London, Patron of Aniridia Network UK. She study for 35 years in her lab aniridia gene and the nearby Wilms' tumor predisposition gene. Tom Glaser was in  the same international collaborative group with her. They identified PAX6 mutation in humans and in the mouse Smalleye model and have been using both species ever since, as well as zebrafish lately, to explore exactly how PAX6 works and how different types of mutations cause aniridia and related eye disease. They also identified other eye disease genes: SOX2 and OTX2. They showed that the correct dosage of PAX6 is critical for correct eye development and maintenance. Gene expression from PAX6, SOX2 and OTX2 is regulated by numerous highly conserved neighboring DNA elements. Gene activity can be disrupted by chromosome breaks and mutations in the region of these elements. PAX6 and SOX2 interact closely to regulate themselves and each other,as well as targeting other essential eye genes. PAX6 and SOX2 activity is also essential for the survival of many stem cells,including those in the cornea. Professor Veronica van Heyningen described in  her report  "Lessons from aniridia: eyeing up the future,glancing back" how we might use our knowledge to prevent deterioration in aniridia.

17.  Clinical Assistant Professor of Ophthalmology  B.Christian Carter, M.D. from Department of Ophthalmology University of Virginia presented in conference report  "Understanding Aniridia: The many ways it effects our vision". His research interests include congenital cataracts and intraocular implantation, congenital glaucoma, congenital ptosis and nasolacrimal duct obstruction, strabismus in children and adults, retinopathy of prematurity,and general pediatric ophthalmology.

18.   Chris Riemann, a   Director,  Board of Directors Cincinnaty Eye Institute,member of the Retina Society, Vitreous Society, American Academy of Ophthalmology,Ohio State Medical Association, Cincinnati Academy of Medicine, Cincinnati Ophthalmology Society, the Association for Research in Vision and Ophthalmology, Cardiology< and Endocrinology, AFI Board Member . He specializes in medical and surgical vitreoretinal diseases including diabetic retinopathy, macular degeneration, retinal detachment, retinopathy of prematurity, vascular diseases of the retina, uveitis, histoplasmosis, complications of anterior segment surgery, endoscopic posterior segment surgery, posterior segment complications of aniridia, and ocular trauma. Doctor Rieman presented 2 reports: "Aniridia- A vitreoretinal perspective" and  "Aniridia and the Back of the Eye."  In the second report  he described the preliminary laboratory studies on Aniridia Fibrosis Syndrome (AFS).

19.   John Freeman,M.D.  is a Instructor,Ophthalmology, University of Tennessee Health Science Center in Memphis, member of Memphis Eye and Cataract Associates, he is Board Certified by the American Board of Ophthalmology. He specializes in cataract surgery, cornea, external disease and laser vision surgery. In conference Dr.Freeman presented 2 reports: "Boston Kpro for treatment of corneal pannus in aniridia patients" and  "The Boston Kpro: A viable solution for  corneal keratopathy in those with Aniridia".

20. Peter A. Netland, M.D., Ph.D.  is Vernah Scott Moyston Professor and Chair at  Depatrment of Ophthalmology, University of Virginia School of Medicine, Chair at AFI Medical Board,  Director of a long-standing clinical glaucoma fellowship training program, member of American Ophthalmological Society.In addition to his recognized expertise in clinical management and surgical treatment of glaucoma, Dr.Netland is an innovative and prolific investigator. In peer-reviewed literature, he has written more than 300 original scientific articles, book chapters,reviews and published abstracts. In conference he presented 2 reports: "Glaucoma update in aniridia" and  "AFI Medical Registry and UVa Gene Bank = Congenital Eye Disorder Program: A unique opportunity for Aniridia".

21.  Juan Alveraz de Toledo,M.D from Spain  is Corneal and Refractive Surgeon, Medical Director of the Tissue Preservation Department of the Eye Bank of Centro de Ophthalmologia Barraquer, Barcelona. Doctor Toledo presented 2 reports: "Treatment of cataract and keretopathy in congenital aniridia: where are we now?"  and       " Surgical approaches in aniridia keratopathy: our experience and future trends".   In a second report  Dr.Toledo  noted  that in the beginning  of keratopathy (at 1 and 2 stages)  possible limbal transplantation, and at the last stage (stages 3)  Boston Kpro can be applied.

22. Kristiana Neff, M.D.   is a board certified ophthalmic surgeon specializing in corneal and ocular surface disease, cataracts and refractive surgery from Carolina Cataract and Laser Center. In addition to her clinical work, Dr.Neff continues her affiliation in teaching as an Assistant Professor in the Department of Ophthalmology at the University of South Carolina. Her work has been published in numerous scientific journals, and she has authored several chapters in textbooks on cornea and cataract surgery. She presented report " Cataract Surgery and Use of Artificial Iris Implant in Aniridia."

23. Lea K. Davis, Ph.D.   is Research Assistant Professor, Department of Medicine, Section of Genetic Medicine, University of Chicago, mother of daughter and son with aniridia and autism.  She presented 2 reports:" Aniridia and Autism: Our Family's Journey" and  "Understanding Autism Spectrum Disorders".  Dr.Davis has authored over 20 papers, frequently gives invited talks on the genetics of autism.

24 Victor C.Baum,M.D. is the Frederic A.Berry Professor of Pediatric Anesthesiology, Executive Vice-Chair of Anesthesiology and Chief of Cardiac Anesthesia at the University of Virginia. He has an interest in anesthesia and genetic disease . In this conference he presented  report " Anasthetic Management of Children and Adults with Genetic and Metabolic Syndromes."

25.Michael Thorner, M.D.,MBBS,DSc,FRCP,MACP   is a David C.Harrison Teaching Professor of Internal Medicine, Division of Endocrinology and Metabolism at the University of Virginia. He presented report "Ghrelin and other enteroendocrine factors regulating obesity".

26. Cynthia Brown,M.D. is an Assistant Professor of Medicine in the Division of Pulmonary and Critical Care Medicine, University of Virginia, Co-Director in Adult Cystic Fibrosis Center.Her research interest is to better understand the causes of disrupted sleep in individuals with chronic obstructive lung diseases such as emphysema and cystic fibrosis. She present report "Circadian rhythm and metabolism: Understanding links to weight gain and sleep apnea".

27. Michael Menaker,Ph.D.  is Commonwealth Professor of Biology at Department of Biology, University of Virginia. For the past 50 years Dr.Menaker has been exploring the comparative circadian biology of vertebrates. His laboratory is studying now the link between the central clock in the brain and the many separate clocks in peripheral structures and the damaging effects of interrupting these links. He presented report  "The role of circadian pacemakers in coordinating metabolism".

28. Satchidananda Panda,Ph.D.  is Associate Professor at Salk Institute, La Jolla,CA. His research focuses on how circadian clock interacts with the ambient light and daily eating-fasting cycle to maintain optimum physiology, metabolism and behavior. His report  is"Light, clock and meal timing in healthy living".  He has recently discovered that when we eat might be as important in maintaining healthy lifespan as what we eat.

29. Cynthia Moore MS,RD,CDE,FADA at Outpatient  Nutrition Couseling Center. Her professional interest include EBT-Emotional Brain Training; neuroplasticity, attachment and stress science; and pre-diabets, cardiovascular disease and reversing metabolic disease. She presented 2 reports : "Experience EBT and Stress Resilience" and "Better Eating, Better Health with Aniridia."                    

30.   Jennifer Kraus,MA,OTR/L  is  Occupation Therapist in UVa Children's Hospital, Virginia, Charlottsville.  She presented  report " Do you have Sensory Issues?"

31.Mery "Poly" Bickley, Med CCC-SLP     is Director of Encouragement Feeding Program , University of Virginia. Her report  is "Sensory Issues and Food / Feeding Issues".

32. Audrey Kocher,RD,MS,FADA   is Pediatric Nutritionist at Kluge Children's rehabilitation Center and Research Institute, University of Virginia. He presented report:  "Interpreting Information About Your Child's Nutrition Health".          

33. Lisa Auwarter, MS    is Education Coordinator at Virginia Department for the Blind and Visually Impaired. She presented report: "Early Intervention for the Visually Impaired Child".

34Dawn Peifer  is  President of Virginia Parents of Visually Impaired Children. She presented report "Education and Advocating Strategies".

35. Sara C.Mateyka,MS,CRC  is   Counselor at Virginia Department of the Blind and Visually Impaired. She presented report "Acceptance and Coping with Vision Loss and Depression".

36.June Jenkins   is Program Director of Safe Schools Program, Charlottsville . She presented report  "Bullying and Strategies for Coping: Children and Adults".

37.Michael Talley,  AFI Angel   presented report  "Self Employment: Success despite visual impairment".

38.Peggy Fields,Ph.D. is Program Director at Rehabilitative Technology Services, Virginia Department of the Blind and Visually Impaired.  She presented report  "Tech for Teens and Adults".

39.Audrey A. Dannenberg, MA,MEd,COMS,CVRT   is Certified Orientation and Mobility Specialist, Certified Vision Rehabilitation Therapist at Vision Outreach, Virginia, Charlottsville. He presented report " Strategies for Independent Living and Travel at Home and in the Community".

40. Marge Owens    is Program Director for  Low Aision Servises at Virginia Department of the Blind and Visually Impaired. She presented low vision devices at her report  " Low vision devices: What's available to those with low vision".

41.Marty Rowe is Work Readiness and Career Exploration Instructor  from  Woodrow Wilson Rehabilitation Center. He  presented report  "Importance of Life Skills: Their importance in transition planning and employment".

42.  Debbie Berkeley, MA   is Assistant Director at Leading Needs and Evaluation Center, University of Virginia. She presented report "Transition: High School to College and Services for the Vision Impaired"

43.Melanie Brunson  is Executive Director at American Council of the Blind, Arlington, Virginia. She presentented report "The ACB Scholarship Program, and Tips for Talking with Employers About Visual Impairment"

44. Sally Chin, Heidi Petre, Matt Sorenson is AFI Angel  (Volunteers of AFI), parents of children with aniridia. They  explaied about how they work in the AFI, and what we need to do to advance the Aniridia. Report "Advancing Aniridia:It takes a Village".

45. C.Hailey Vaughan Robertson, Attorney    presented report "Estate Planning Options Including Special Needs Trusts and Guardianship".

46.Barbara Poli   from Italy  is Secretary of Aniridia Europe, President of Italian aniridia association . Her presentation is "Aniridia Europe: Uniting patients in Europe, collaborating with AFI and promoting research. An invitation to the 2014 Aniridia Conference in Venice, Italy."

47. Christine L.Appert, Ed.D.,CCLS ; Audrey A. Dannenberg, MA,MEd, COMS,CVRT ; Stephen Record, OD presented the movie "Going Blind".

This conference was a unique opportunity for phisicians,scientists,and patients ( with their family members)  to get together in one place and shere information about the various medical and ophthalmic conditions,also prevalent in the general population, which make  up aniridia syndrome.

The next conference '' Make a Miracle 2015"  will be held  in Canada. Vancouver,.

Russian "Inter-regional support center for patients with aniridia " Iris "," expresses gratitude for the  Aniridia Foundation International( AFI)  and Jill Nerby personally  for  their contribution to the unification of the world's knowledge and achievements in the aniridia and support for patients all over the world !