New Technology, Techniques Leading Charge Against Rare Conditions

New technology is providing researchers and clinicians with an opportunity to revisit many conditions once written off as terminal or at least chronic. The combination of several different areas of research and treatment has made it possible to turn the tide against some rare and deadly conditions. 

Pinpoint Surgical Intervention

The spectrum of tumors deemed “inoperable” is narrowing. Meningioma, a rare condition of tumors on the meninges, was once tolerated as long as possible before a gross surgical solution was no longer avoidable.

Quality imaging is making it possible to accurately locate and identify meningioma sites, and breakthroughs in technology now mean that meningioma surgery is taking place under similar conditions to other laparoscopic procedures, meaning the condition can be addressed before it begins to profoundly impact function.

Stem Cells

The promise of stem cell procedures is blossoming rapidly. Stiff person syndrome, a rare neurological disorder that slowly paralyzes muscles, is very near a cure thanks to a combination of leukemia-like chemo treatments with stem cell therapy.

The procedure is essentially a process of purging and repopulating affected cells. Stem cells are extracted from the bone marrow, then chemo treatments kill off the diseased immune system cells. The stem cells then help the patient rebuild a healthy immune system. While the process is not confirmed as a cure yet, the promise is very real.

Drug Engineering

One in 100,000 people will be born with Mucopolysaccharidosis I (MPI), a metabolic disorder that rarely permits life beyond ten years of age in its worst cases. Milder forms can be managed into adulthood, and it is these more minor cases that show the most promise from recent discoveries.

Thanks to analysis of the affected enzymes in patients, researchers have essentially drawn up a blueprint for a drug that could be created for treatment of the disease. Once that plan can be made a reality, the therapy would be administered and could provide significant improvements in quality and length of life in less severe cases. The potential drug could also then lead to a more definitive treatment for all patients.

Genetic Engineering

Less widely known than diabetes is its opposite, congenital hyperinsulinism. With this condition, as the name suggests, the patient is born with an overactive pancreas that produces excessive insulin.

Researchers have linked this problem to a breakdown of a protein “switch” that signals the pancreas when enough insulin has been produced. Their work has resulted in a genetically engineered revival of the switching system, preventing the pancreas from overproducing and thus averting surgical treatment–or death.

Drugs To Combat Non-Pathogenic Diseases

Progeria is an exceedingly rare condition that causes children to age rapidly and die at a very early age, typically around 13 years. It is caused by the failure of a child’s body to properly produce lamin A, a protein associated with development, and instead produce progerin, which accelerates the aging process. A new drug lonafarnib was used in a clinical trial with 25 children who showed improved symptoms of their progeria. While it is not yet a cure, this could be the most effective path for attacking the disease.

It’s becoming clear that the silver bullet days of cures like the polio or smallpox vaccines are gone. But this confluence of many different growth areas of science shows real potential for combating medicine’s most stubborn foes.

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