In medical school, students learn the significant facts about rare diseases, including their prognosis, treatment options, and predisposing factors. However, it's entirely different when a doctors diagnoses a patient with a rare disease and have to care for them. Since the providers wants to get all the details and provide the best care possible despite the limited information available, the task can prove challenging. This article shows steps to help ensure that patients get the quality of care they need.
Consider Investigational Therapies
Since there are not many drugs out there proven to be effective for treating rare diseases, investigational therapies might be worth trying for your patient. Such treatments are worth considering when patients are experiencing severe side effects from using the conventional therapies and when the early study results of the investigational drugs are promising.
Before proceeding with it consider what the investigational drug is being studied for, the accessibility to clinical trial sites, and how much is already known about such therapies. For your patient's safety the potential risks and the scientific evidence available must be examined and existing treatments exhausted.
Determine if the patient will meet the inclusion criteria for participation in the study, such as the type or stage of their disease, age group, medical history, and current health status. As the physician, it is the responsibility to request such drugs. However, expanded access programs for investigational drugs are sometimes hard to navigate. If there is difficulty getting patients into such clinical trials, you might want to consider using an Early Access Care program. Such programs connect patients to needed investigational products and streamline the request processes.
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Response: We were broadly interested in discovering instances of bacterial genes that have been acquired by diverse animal genomes over millions of years of evolution by the process of horizontal gene transfer (HGT). Since these events are quite rare and most previous discoveries have been serendipitous, we developed computational methods to identify genes acquired by HGT in animals. One of the exciting discoveries from our work was that vertebrate IRBP appeared to have originated in bacteria and is now a critical component of the vertebrate visual cycle, so this paper focuses on that one discovery.
IRBP or interphotoreceptor retinoid binding protein is an important protein present in the space between two major cell types in our eyes, photoreceptor cells and RPE cells. Our ability to see involves an intricate set of steps where light is first sensed by causing a change (isomerization) in the chemical structure of molecules in the eye called retinoids. This sensing of light occurs in our photoreceptor cells. Following this change in the chemical structure, the retinoid needs to be recycled back to the chemical structure that can again sense light. This recycling occurs in RPE cells. IRBP performs the essential function of shuttling retinoids between the photoreceptors and the RPE cells, which allows the cycle of sensing and regeneration to work. Supporting its importance, mutations in IRBP (also known as retinol binding protein 3 or RBP3) can cause several severe human eye diseases.
