NGF President and CEO Pays Tribute to ‘Scientific Legend’ in Gaucher, Other Metabolic Storage Disorders

NGF President and CEO Pays Tribute to ‘Scientific Legend’ in Gaucher, Other Metabolic Storage Disorders

Long before Cerezyme (imiglucerase) and Cerdelga (eliglustat) were approved as Gaucher type 1 treatments, before a computer simulation was found to identify optimal treatments, and before the development of new stem cell lines for study, there was Roscoe Brady, MD.

A scientist emeritus at the National Institutes of Health (NIH), Brady spent more than half a century conducting groundbreaking research on inherited metabolic storage diseases such as Gaucher, Niemann-Pick, Fabry, and Tay-Sachs.

Although he died in 2016, Brady’s work belongs to the ages.

In fact, Brian Berman, president and CEO of the National Gaucher Foundation (NGF), recently memorialized Brady in a missive titled “A Letter From Brian Berman, President, National Gaucher Foundation,” published in Molecular Genetics and Metabolism Reports.

He called Brady a “scientific legend.” But, then, he may be a tad partial; Berman lives with Gaucher disease.

“I sit at home late at night, listening to the sounds of my children breathing,” he wrote. “If not for the efforts of Dr. Brady, they would not exist. I would not exist.

“His tenacious approach to pioneering work transformed the future for Gaucher patients; developing a way to replace defective enzymes resulted in a life-saving treatment that has completely changed what would otherwise have been the destiny of those suffering from Gaucher disease,” Berman said.

Brady attended Pennsylvania State University and earned his medical degree from Harvard Medical School. While at the NIH, he and his colleagues identified enzyme defects in Gaucher, Niemann-Pick, and Fabry diseases as well as the specific metabolic abnormality in Tay-Sachs.

They also developed diagnostic, carrier detection, and prenatal tests for Gaucher, Niemann-Pick, and Fabry, and pioneered effective enzyme replacement therapy (ERT) for those living with Gaucher and Fabry.

Over his long career, Brady was bestowed many honors, including the Gairdner International Award, the Cotzias Award from the American Academy of Neurology, and the United States National Medal of Technology and Innovation. He was also a member of the National Academy of Sciences and the Institute of Medicine.

In his letter, Berman included input from leaders of other organizations that represent patients globally who have benefited from Brady’s work. Brady was a longtime member of the National Organization for Rare Disorders (NORD) medical advisory committee.

“He devoted countless hours to helping NORD provide accurate information on rare metabolic diseases to patients and medical professionals, overseeing NORD’s Research Grant Program and advising NORD’s advocacy on public policies related to his areas of expertise,” writes NORD president and CEO Peter L. Saltonstall.

Some recalled memorable encounters with Brady and the legacy that he left behind.

“Once, while sitting across the aisle from each other on an airplane several years ago, I learned a great deal about substrate reduction concepts and theories. Dr. Brady always exhibited so much enthusiasm for furthering science on our behalf. We will truly miss this exceptional leader, teacher, explorer, scientist, humanitarian and friend,” remembers Jerry Walter, founder and president of the National Fabry Disease Foundation.

For his part, Berman ended his tribute with something of a call to action.

“May we all be as passionate, as energetic and as kind as Dr. Brady. May we all care as deeply. May we all feel such a sense of responsibility to the world and to each other.”

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Mary Chapman Editor

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