Rare Disease Day Event Comes to Einstein's “Main Street”

The Leo Forchheimer Medical Science Building was the first research facility constructed at Einstein and has always been the central hub of the College of Medicine. On Friday, February 28, 2014, its main hallway, known as Einstein’s “Main Street” served as the backdrop for the annual Rare Disease Day.

The third annual commemoration of the event was designed to raise awareness of rare diseases while shedding light on the investigators at Einstein and its University Hospital, Montefiore Medical Center, who are conducting research on rare diseases—which are defined as those disorders or syndromes that each affects fewer than 200,000 Americans. It’s estimated by the National Organization for Rare Disorders that there are  approximately 6,800 such diseases, affecting nearly 31 million Americans overall.

For the event, the wall running the length of Main Street was adorned with research posters describing approximately 30 projects currently underway at Einstein and Montefiore. The posters were accompanied by a dozen photographs of individuals with rare diseases, taken by award-winning former fashion photographer Rick Guidotti, who had discussed his “Positive Exposure: The Spirit of Difference” project during a recent meeting of the Molecular and Cellular Foundations of Medicine course. Mr. Guidotti aims to capture the beauty of individuals with genetic disorders in an effort to change how we see and perceive beauty.

Following welcoming remarks from Dr. Steven Walkley, director of Einstein’s Rose F. Kennedy Intellectual and Developmental Disability Research Center (IDDRC), Dr. Edward R. Burns, executive dean, noted, “Those who study rare diseases form connections in ways that few experience when researching other diseases. You meet someone and your lives are touched by them. And you dedicate yourselves to the study of these diseases and disorders, while patients are your partners, giving their time, knowledge, DNA, and observations.”

Dr. Rick Kaskel, division chief of pediatric nephrology and vice chair for affiliate and network relations in pediatrics, spoke on behalf of the Children’s Hospital at Montefiore (CHAM), one of several event co-sponsors. He observed, “It’s not so rare if it’s your child or loved one with the disease. We treat every child’s disease as if it’s rare.”

Next, Dr. Bob Marion, director of the genetics division in pediatrics and former director of the Children’s Evaluation and Rehabilitation Center (CERC), noted, “We investigators are part of one family. Though we work in different buildings, labs and even campuses, we seek the underlying answers from information gleaned at the bedside. And when it works, there’s nothing more satisfying.”

He then introduced Alena Galan, a 16-year-old who serves as a shining of example of “when it works.” Ms. Galan—who has Mucopolysaccharidosis type VI, a lysosomal disorder which causes enlargement and inflammation of many tissues and organs, including severe skeletal abnormalities—offered her renditions of “The Climb,” “True Colors” and “Because You Love Me.” Dr. Marion met her as an infant and diagnosed her disorder at a time when there was no treatment and only a grim, short-lived future. Fortunately, a medication providing the enzyme Ms. Galan is missing was eventually approved by the FDA, and her life expectancy has gone from likely death by age 20 to that of any healthy individual.

In addition to Ms. Galan’s performances, researchers whose posters were on display offered a brief overview of their work. The event also offered time for networking and forging of new collaborations, backed by the smooth sounds of the Einstein Jazz Ensemble and complemented by wine, cheese, fruit and sushi.

The event was co-sponsored by the IDDRC, CERC, CHAM and the Block Institute for Clinical and Translational Research at Einstein and Montefiore.

Rare Disease Day organizers (from left): Dr. Rick Kaskel; Lisa Guillory; and Drs. Steven Walkley and Bob Marion
Rare Disease Day organizers (from left): Dr. Rick Kaskel; Lisa Guillory; and Drs. Steven Walkley and Bob Marion
Alena delighted the “Main Street” audience with her song renditions
Alena delighted the “Main Street” audience with her song renditions
Researchers shared their posters and explained their work
Researchers shared their posters and explained their work
 

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