People With This Rare Disease Can Barely Eat Protein.  Biotechnology May Change That.

People With This Rare Disease Can Barely Eat Protein.  Biotechnology May Change That.

The Brown family at the Grand Tetons (2019). Clockwise from left, Christine, Kevin, Keagan, Connor, and Kellen.

Courtesy Brown family

Imagine that the protein in bread, eggs, steak, even beans is not the foundation for a healthy diet, but a poison to your brain. That is the reality for people living with Phenylketonuria, or PKU. This cluster of rare genetic variations affects the ability to digest phenylalanine (Phe), one of the chemical building blocks of protein. The toxins can build up in the brain causing severe mental retardation.

Can a probiotic help digest the troublesome proteins before they can enter the bloodstream and travel to the brain? A Boston area biotech start up, Synlogic, believes it can. Their starting point is an E. coli bacterium that has been used as a probiotic for more than a century. The company then screened thousands of gene variants to identify ones that produced enzymes most efficient at slicing and dicing the target proteins and optimized them further through directed evolution. The results have been encouraging.

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Bob Roehr
Bob Roehr is a biomedical journalist based in Washington, DC. Over the last twenty-five years he has written extensively for The BMJ, Scientific American, PNAS, Proto, and myriad other publications. He is primarily interested in HIV, infectious disease, immunology, and how growing knowledge of the microbiome is changing our understanding of health and disease. He is working on a book about the ways the body can at least partially control HIV and how that has influenced (or not) the search for a treatment and cure.
This man spent over 70 years in an iron lung. What he was able to accomplish is amazing.

Paul Alexander spent more than 70 years confined to an iron lung after a polio infection left him paralyzed at age 6. Here, Alexander uses a mirror attached to the top of his iron lung to view his surroundings.

Allison Smith / The Guardian

It’s a sight we don’t normally see these days: A man lying prone in a big, metal tube with his head sticking out of one end. But it wasn’t so long ago that this sight was unfortunately much more common.

In the first half of the 20th century, tens of thousands of people each year were infected by polio—a highly contagious virus that attacks nerves in the spinal cord and brainstem. Many people survived polio, but a small percentage of people who did were left permanently paralyzed from the virus, requiring support to help them breathe. This support, known as an “iron lung,” manually pulled oxygen in and out of a person’s lungs by changing the pressure inside the machine.

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Sarah Watts

Sarah Watts is a health and science writer based in Chicago.

When doctors couldn’t stop her daughter’s seizures, this mom earned a PhD and found a treatment herself.

Savannah Salazar (left) and her mother, Tracy Dixon-Salazaar, who earned a PhD in neurobiology in the quest for a treatment of her daughter's seizure disorder.

LGS Foundation

Twenty-eight years ago, Tracy Dixon-Salazaar woke to the sound of her daughter, two-year-old Savannah, in the midst of a medical emergency.

“I entered [Savannah’s room] to see her tiny little body jerking about violently in her bed,” Tracy said in an interview. “I thought she was choking.” When she and her husband frantically called 911, the paramedic told them it was likely that Savannah had had a seizure—a term neither Tracy nor her husband had ever heard before.

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Sarah Watts

Sarah Watts is a health and science writer based in Chicago.