What Makes Rare Disease Day Important?

  A group of doctors and scientists at Boston Children's Hospital sequenced a six-year-old girl's entire genome after she arrived with blindness, ataxia , seizures, and developmental regression. They were able to determine that she had the uncommon neurodegenerative illness known as CLN7 , and they were also able to create a splice-modulating antisense oligonucleotide medication based on the particular profile of the mutation. In other words, a personalised therapy that adapted care to this particular girl's CLN7 condition using genomic findings . Doesn't every child and individual with a rare disease deserve to receive this kind of care? But today, patients with uncommon diseases may wait years for a diagnosis. Over 300 million people suffer from rare diseases worldwide, and it is thought that one in every twenty people will develop one at some point in their lives. Despite this, many of these patients are unaware of the name of their illness or have no way of conn

Who are affected by rare diseases?

  Though not all rare diseases are inherited, many are. While some are obvious from birth, others do not manifest until much later in life. Children make up almost two-thirds of Americans with uncommon disorders. We are all related to someone who suffers from a rare illness . An major public health concern is rare diseases . When compared to other common diseases in the general population, rare diseases have a low prevalence and only impact a small number of people. Approximately 6000–8000 rare diseases are thought to occur globally, and new rare diseases are frequently described in the medical literature . However, there are about 350 rare disorders that afflict 80% of all people with rare diseases. In spite of their low prevalence and individual rarity, rare diseases paradoxically afflict a sizable fraction of the population in every nation, which, according to generally agreed international research, ranges between 6% and 8%. Genetic disorders , uncommon malignancies, tropical

Which diseases will injury the bones, kidneys and red somatic cell count?

Due to the damaged kidneys ' inability to correctly balance the body's levels of minerals and hormones, CKD-related kidney impairment results in mineral and bone disorders. Kidney damage prevent Generating an imbalance of calcium in your blood by converting vitamin D into calcitriol. Eliminating too much phosphorus from your blood, leading your blood to draw calcium from your bones, which weakens them Additionally, when your kidneys are damaged, your parathyroid glands , which are located in your neck but are unrelated to thyroid function , release more PTH into your blood to move calcium out of your bones and raise your blood calcium levels. However, this reaction also deprives your bones of crucial calcium . Kidney damage makes it more difficult for them to remove phosphorus from your body. Less calcium in your blood and the release of PTH by your parathyroid glands are linked to phosphorus buildup. PTH causes calcium to leave bones and enter the blood. Your bones m