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ACMG Foundation receives gift from Spark Therapeutics for ophthalmic genetics fellowship


Gift marks the first time the ACMG Foundation has allocated an award for training in ophthalmic genetics.

The ACMG Foundation for Genetic and Genomic Medicine announced that it has received a commitment from Spark Therapeutics Inc. to fund two fellowship training awards in ophthalmic genetics through its Next Generation Fellowship and Training Awards Program.

This is the first time in its history that the ACMG Foundation will provide funding for training in this rapidly advancing area of specialty in medical genetics and genomics.

The ACMG Foundation's Next Generation Fellowship and Training Awards Program has worked to address a shortage of medical genetics experts needed to diagnose and treat patients with genetic disorders. To date, the program has funded a total of 60 years of study in genetic and genomic medicine to highly qualified medical students.

The partnership between the ACMG Foundation and Spark Therapeutics will help foster medical genetics and genomics expertise for physicians seeking to specialize in the evaluation, diagnosis, and management of genetic eye disease.

“I am delighted to announce the generous gift from Spark Therapeutics, Inc. to fund two fellowship positions in ophthalmic genetics with an emphasis on inherited retinal diseases,” Max Muenke, MD, FACMG, CEO of the American College of Genetics and Genomics, said in a statement.

Muenke said that healthcare professionals experienced in ophthalmic genetics have been at the forefront of helping individuals and families affected with inherited eye diseases.

“Recent successes in discovering genetic variants and conditions known to contribute to eye disorders and developing and delivering gene therapies for specific eye conditions have the potential of not just managing but laying a foundation towards curing these disorders,” he said in the statement. “With the continually evolving advances in genetics and genomics, we need many more ophthalmologists trained in managing hereditary eye diseases and utilizing these novel treatment modalities.”

Bartholomew Tortella, MD, FACS, FCCM, head of Medical Affairs at Spark, pointed out that it is important that as partners work together to advance novel treatment options for people and families affected by genetic diseases, it is important to build on the foundation and understanding of genetics across the healthcare community.

“Diagnosing and treating inherited eye diseases is complex, and programs such as the ACMG Foundation fellowship focused on ophthalmic genetics are a step forward in supporting patient communities,” Tortella said in a statement.

Bruce R. Korf, MD, PhD, FACMG, president of the ACMG Foundation, pointed out that a high proportion of retinal disorders have a genetic basis.

“Training specialists who are able to use the powerful approaches of genetic and genomic medicine in this area not only will benefit patients with genetic eye disorders but serves as a model for the integration of genetics and genomics across all of medicine,” Korf concluded.

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