The ACMG Foundation receives a donation from Spark Therapeutics for an ophthalmic genetics scholarship


The ACMG Foundation for Genetic and Genomic Medicine announced that it has received a commitment from Spark Therapeutics Inc. to fund two ophthalmic genetics training scholarships as part of its Next Generation scholarship and training scholarship program.

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

The ACMG Foundation’s Next Generation Fellowship and Training Scholarship Program has worked to address the 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 expertise in medical genetics and genomics for physicians seeking to specialize in the assessment, diagnosis and management of genetic eye diseases.

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

Muenke said medical professionals with experience in ophthalmic genetics have been at the forefront of helping individuals and families affected by inherited eye diseases.

“Recent successes in finding genetic variants and conditions known to contribute to eye disorders and in the development and delivery of gene therapies for specific eye conditions have the potential not only to manage but to lay the foundation for recovery. of these troubles, “he said in the statement. “With the ever-changing advancements in genetics and genomics, we need many more ophthalmologists trained in the management of inherited eye diseases and the use of these new treatment modalities. “

Bartholomew Tortella, MD, FACS, FCCM, stressed that it is important that as partners work together to advance new treatment options for individuals and families affected by genetic diseases, it is important to build on the foundations and understanding of genetics in the healthcare community. .

“The diagnosis and treatment of inherited eye diseases are 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, chairman of the ACMG Foundation, pointed out that a high proportion of retinal disorders have a genetic basis.

“The training of specialists capable of using the powerful approaches of genetic and genomic medicine in this area will not only benefit patients with genetic eye disorders, but will serve as a model for the integration of genetics and genomics into the field. whole medicine, ”Korf concluded.


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