Clinic Day 3: An Einstein Researcher’s Mission to Micronesia
Adele Schneider, MD, director of Clinical Genetics at Einstein Medical Center Philadelphia, is leading a team of genetic researchers and vision experts on the island of Weno, part of Chuuk State in the nation of Micronesia, hoping to learn what they can about the genetic underpinnings of anophthalmia/microphthalmia (A/M), which causes blindness. They also hope to try to determine whether certain environmental factors might contribute to A/M, and to provide badly needed ophthalmological services.
Dr. Schneider is blogging from Weno during her stay. This is the second installment.
Monday Clinic, April 24
Today was Day 3 of the clinics, when patients from a remote island were expected to visit. These families arrived on motor boats from their distant island and traveled about an hour to reach our clinic on the island of Weno.
One of the two motor boat harbors stops on Weno is within walking distance of the clinic. We are paying the cost of the gas for the boats, which is very expensive, so the families can come without worrying about the high cost. The gas for each family today cost $145 for the round-trip boat ride—prohibitive for most Chuukese.
The families that came from the outer island today are all related and the three affected children are first cousins. While this is clear case of potential autosomal recessive inheritance with consanguinity—inheriting two mutated genes, one each from biologically related parents—most families are not as clearly related. We think that since Chuuk as a whole has a small population, with likely common ancestors, the result may be a common mutation they are all at risk to carry.
Today we also introduced our videographer, Steve McCarthy, and his son Justin to the clinic and how the team operates. Tomorrow he will start to film us in action. This study is funded by a grant from the Albert Einstein Society of the Einstein Healthcare Network and this video will be a testament to the amazing things the AES has done for the staff at Einstein and those who benefit from the funded projects.