In the United States, healthcare professionals classify a disease as rare if it affects fewer than 200,000 individuals. As of August 7, 2024, the U.S. population consists of just under 336.9 million people, so every rare disease affects no more than 0.59% of Americans. For comparison, nearly 7% of U.S. adults have heart disease.
Having any disease is challenging, but rare diseases create extra obstacles for patients and healthcare professionals. Rare diseases affect very few people, so it's difficult for researchers to access funds. Nonprofits want to help as many people as possible, while private investors want to maximize the value of their investments, both of which are especially difficult to do if a disease affects only a few hundred individuals worldwide.
What Is NGS?Next-generation sequencing is a new technology used for DNA and RNA sequencing and variant/mutation detection. NGS can sequence hundreds and thousands of genes or whole genome in a short period of time. Whole-genome sequencing makes it possible to determine a person's entire DNA sequence. WGS makes it possible to detect variations in a single nucleotide, making it extremely valuable for researching rare diseases.
If the presidential race seems far-fetched, you haven't been paying attention Anyone who tells you they know what will happen over the next 10 years, let alone in November likely does not have an imagination as wild as fate Real-world applications of NGSAlthough NGS is relatively new, it has already helped researchers diagnose rare diseases. One of the best examples is the use of prenatal genetic screening, which tests a sample of cells collected from a fetus or placenta. NGS makes it possible to analyze the nucleic acids from these cells, enabling scientists to identify concerning genetic variations.
When rare diseases aren't diagnosed right away, they have the potential to cause lasting damage. For example, Wilson disease causes excess copper to build up in the body. If the disease is diagnosed early, patients can take steps to eliminate the excess copper, preventing organ damage and other complications. If someone with Wilson disease has to wait months for a diagnosis, the excess copper is likely to cause lasting organ damage, which can cause lifelong problems.
United States Latest News, United States Headlines
Similar News:You can also read news stories similar to this one that we have collected from other news sources.
New brain-mapping tool may be the 'START' of next-generation therapeuticsScientists debut START, a new tool for mapping the brain's intricate neuronal connections with unparalleled precision.
Read more »
The next generation of nepo babies has arrived — and they're taking over NYFW runwaysMove aside Kendall, Kaia, Bella and Gigi — and make way for Dream, David, Grace and Grier.
Read more »
NOAA orders next generation of hurricane hunter aircraftThe National Oceanic and Atmospheric Administration announced recently it awarded a contract to Georgia-based Lockheed Martin Aeronautics for two specialized C-130J Hercules aircraft. The planes are expected to join NOAA’s fleet by 2030.
Read more »
Marine uses Miramar Air Show as way to inspire next generationAdam Campos is a morning reporter and producer for ABC10. He joined the 10News team in July 2024.
Read more »
‘I like to go fast’: Anchorage barrel racers cheer on the next generationA group of mostly female horseback riders who call themselves the 907 Barrel Racers recently raced in the final members-only competition of the season.
Read more »
NOAA awards contract for next-generation hurricane hunter aircraft‘Flying laboratories’ will bolster atmospheric research and severe weather prediction
Read more »