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The Conformer

ICAN's Family Newsletter Winter 1998


Conference Update Edition


The First International Anophthalmia/Microphthalmia Conference is fast approaching!! The conference weekend. April 9-11, 1999, is less than 3 months away. We have some important reminders for you, as well as some new information. We want the conference to be a wonderful experience for everybody who attends so please contact us if you have any concerns or questions.

Details to remember:

*Registration fees increase agter FEBRUARY 15,1999. In order to receive the reduced rates, your registration must be postmarked no later than 2/15/99.
If you do not have a registration form, you may call (215) 456-8722 to request on. You may also download a copy of the form from either of the following websites:

*The special conference rate of $99 at the Adams Mark Hotel is only guaranteed throught March 10,1999. There are still rooms available so make your reservations now! The hotel number is (215) 581-5000. The special rate is in the computer so be sure to let them know you are calling about the ICAN Conference when you make the reservations. You may also have to mention Albert Einstein Medical Center if the operator has difficulty locating the special rate in the computer.

*Us Airways is the official carrier for the ICAN Conference. The special fare being offered is a 5% discount off First or Business clas and any published US Airways promotional round-trip fare. A 10% discount off unrestricted coach fares will apply with 7-day advanced reservations and ticketing required. If ticketing is completed 60 days or more prior to departure, an additional 5% discount applies.
Discounts are valid for travel between April 6-14,1999. Call (800)334-8644, select option 1 and be sure to refer to GOLD FILE#46140858.

*Registration refund requests must be received in writing and postmarked no later the MARCH 1.1999. A $50 service fee will be charged for cancellations received under these terms. NO refunds will be granted after March 15, 1999.



Who's Who at the A/M Conference


There is an Expert Panel scheduled for Saturday, April 10.1999 from 1:30-3:15 pm to discuss the treatment of A/M. The panel will be made up of the following individuals:

MODERATOR: Joseph LeGrand, BCO; Ocularist
LeGrand Associates, Philadelphia, PA

**James Katowitz, M.D>; Oculoplastic Surgeon
Children's Hospital of Philadelphia, Philadelphia, PA
**Kevin Kelley, BCO, FASO; Ocularist
John J. Kelley Associates, Ltd., Philadelphia PA
**James Merritt, M.D., FASC;
Ophthalmologist specializing in Oculoplastic and Reconstructive Surgery
Private practice in Dallas, TX
**Randy Trawnik, BCO; Ocularist
Dallas Eye Prosthetics, Dallas TX
**Vincent Young, M.D.; Chairman of Ophthalmology
Albert Einstein Medical Center, Philadelphia, PA

There will also be researchers who specialize in the eye development genes attending the conference. Their presentations will launch the new DNA testing program. Interested families have the option of providing DNA samples for research during the conference. The researchers' labs that will be represented include the following:

**Tom Glaser, M.D., Ph.D.
University of Michigan, Ann Arbor, MI
**Peter Mathers, Ph.D.
West Virginia School of Medicine, Morgantown, WV
Jeffrey Murray, M.D.
University of Iowa, Iowa City, IA

Genetic Councelors from Albert Einstein Medical Center in Philadelphia will be available all day Saturday to answer you questions about the DNA testing program.

Before brunch on Sunday morning, the DNA collection will take place. We will be collecting the DNA from children and their relatives through painless brushings of the inner cheek.


Start thinking about questions regarding the treatment of A/M that you would like the Expert panel to address. Please write down your questions and forward them to the address below before the conference.

Albert Einstein Medical Center
Division of Genetics
5501 Old York Road, Levy 2 West
Philadelphia, PA 19141


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By the way.....

If you are bringing the entire family, there will be organized activities for the kids during the day on Saturday at Overbrook School for the Blind. We are hoping to provide a day camp atmosphere so the kids won't get bored! There will be kids of various ages but we are working to make sure that everyone has a good time! We can plan better if you sign up early.

Don't forget about the MEDICAL CONSULTATIONS which are being offered on the afternoon of Friday, April 9, 1999. Drs. Katowitz and Merritt (oculoplastic surgeons) and Randall Trawnik, Joseph LeGrand, and Kevin Kelley (ocularists) have volunteered their time. Since we have such great volunteers, we are able to offer more consultations. Genetics consults will also be available. The registration form for the Medical Consultations is on the back of the conference registration form which you should have received in the mail. If you need a copy or the Medical Consultation registration form, please call (215) 456-8722.

The fall 1997 issue of Journal of Ophthalmic Prosthetics, focusing on A/M is still available. They will be on sale for $25 each at the conference.


Sponsor Acknowledgements

We would like to thank the following organizations for their financial support of the First International A/M Conference. Without their support, this conference would not be possible.

Fourjay Foundation-$3000
Porex Surgical-$1000
Integrated Orbital Implants, Inc.-$500
Maloney's Ocular Prosthetics-$100
Denver Optic Company-$100

The conference is being supported in part by Grant #MCJ34108-01 from the Maternal and Child Health Bureau (Title V, Social Security Act) Human Resourses and Services Administration, Department of Health and Human Services.

The following contributions have been received for the Scholarship Fund. Contributions are greatly appreciated and will certainly be put to good use.

Richard and Kerry Redding
W. Randall Trawnik, BCO
and the A/M Registry.





A Message from Tom Glaser, MD, PhD
A Scientist who is studying eye related genes and will be present at the conference to desctibe his research project

My laboratory is working to understand how the eyes develop in the human embryo, the identity and role of genes controlling this process, and the factors that contribute to microphthalmia and anophthalmia. In previous studies, we found that mutations in the gene PAX6 cause aniridia, a severe hereditary malformation of microphthalmia and anophthalmia. In other projects, we are attenpting to discover new genes that control eye morphgenesis (embryonic development). In addition to PAX6, the genes we are studying include: MITF, CHX10, ETA2, HES1 and RAX. Each of these genes is specifically expressed in the embryonic eye, and most are known to cause eye malformations, when mutated, in mice or other model organisms.

To screen for mutations in these genes in patients, we test DNA samples. Because the defects are clinically heterogeneous-each case and diagnosis is unique-they are likely to involve different kinds of mutations and different genes. The testing is therefore labor-intensive and slow, and may not ultimately give an answer. To obtain enough DNA to test multiple genes, we typically ask for a small (5-10cc) blood sample from the patient (usually a child) and family members (usually parents). This sample would be used in addition to the cheek brush DNA sample, and would usually be drawn by the family's personal health care provider at their convenience and returned to our lab by express mail, where we will extract the DNA. The blood drawing is no different than any other blood test, and can be coordinated with a regularly scheduled medical check-up. The DNA analysis is aimed only at understanding the cause of congenital eye disease, and the results are completely confidential. In order to test multiple genes efficiently, we will share coded DNA samples with other qualified researchers, with with your permission and ICAN assistance.

We plan to contact patients with specific results through the Genetic Counselor Coordinator of the A/M Registry at Albert Einstein Medical Center, and report generally to families on our progress through this newsletter. I welcome the opportunity to meet some of you in Philadelphia this April, to describe some of the embryology of the eye, our methods, results to date and future plans, and to answer your questions. I plan to distribute Permission to Contact forms at ICAN's meeting in April, and then to contact families who return the forms and send a blood collection kit.

This procedure and project have been approved by the Institutional Review Board for Human Subjects at the University of Michigan (1994-495) and the U.S. National Eye Institute(EY11729).


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