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Tackling Rare and Orphan Diseases

STANFORD – Rare diseases are commonly neglected, simply because they are, well, rare. In the aggregate, however, they affect huge numbers of people. In the United States, rare diseases are defined as those that affect fewer than 200,000 people. But there are more than 6,800 of these conditions, and worldwide they afflict hundreds of millions of people. And yet only about 250 treatments are available for these diseases.

One reason for this is that small numbers of patients make studying illnesses and testing drugs difficult. As a result, medical professionals often know little about the symptoms and biology of these diseases.

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Earlier this year, I participated in a Rare Disease Day program in California. The topic was an obscure but large collection (more than 70) of diseases caused by a specific type of genetic error – one that takes place in the machinery of cells that chemically attaches sugars to proteins and lipids.

Little is known about what causes the mutations that give rise to these congenital disorders, and treatments exist for only a few. These defects can lead to a wide spectrum of problems, because accurate glycosylation, as the process is called, is essential for the functioning of many signaling molecules, such as hormones and neurotransmitters, as well as the receptors to which these molecules bind.

Along with health professionals, the audience at the conference included children afflicted with these diseases, along with their families. For an entire afternoon, the health professionals met in small groups with the families and children. As the discussion went on, one child would occasionally let out a blood-curdling scream. Another would periodically make quacking noises. Still others sat in various stages of deterioration.

At one point, I was sitting about a foot away from an adorable little girl – I think she was about two years old – and every couple of minutes she would have a seizure. Her eyes would roll back, and her head would drop to her chest. The medications she is taking are able to prevent only the most violent and generalized of her seizures. Then she would recover and resume pressing the screen of her little child’s laptop. Her anguished father spent the entire session stroking her arm.

Watching the parents was difficult. Some were hyper-alert, asking lots of questions; they seemed to have devoured every scientific paper, blog, and newspaper article in existence. Others just seemed confused. The worst were those with blank stares of deep despair.

For most of the parents, the random bad luck of their child’s genetic defect had stolen their lives, turning their days into a series of endless visits to medical specialists. Most of the kids need large numbers of medicines. Many must be fed via gastric feeding tubes inserted surgically through an incision in their abdomens. One woman was there with her 32-year-old son.

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There is much that governments can do to help those dealing with rare diseases. First, they can redirect research funding from less critical pursuits to projects in molecular genetics that can offer insights into metabolic disorders. Second, they can reduce the burden of regulatory red tape on the very small clinical trials of new treatments for rare diseases. Finally, policymakers can create financial incentives – which could include tax breaks on research and development – to encourage drug companies to develop therapies that otherwise would not provide an attractive return on investment.

In the world of medicine, practitioners of a few difficult, draining specialties are – in my book – well on the path to sainthood. I would include among them pediatric oncologists, the staff of burn units, the volunteers who treat patients with lethal infectious diseases such as Ebola, and the professionals who diagnose and treat debilitating genetic diseases and work with the afflicted families. These unsung heroes need all the support we can provide.