Researchers from the Max Planck Institute for Evolutionary Anthropology (MPI-EVA) have been collecting and analyzing data on ancient DNA for years. This DNA has given the researchers a stronger…
Rare Community Profiles Rare Community Profiles is a new Patient Worthy article series of long-form interviews featuring various stakeholders in the rare disease community, such as patients, their…
Over the years, there have been growing concerns about medical research failing to cover or explore diverse groups of people. But in a world where healthcare is not just one-size-fits-all, how…
In the past, research has suggested that there was a genetic component to essential tremor (ET), a nervous system disorder. According to Medscape, researchers recently expanded on this understanding by…
Have you ever heard of base editing? This relatively new technology within the field of genome editing offers the potential opportunity to treat a variety of genetic conditions. According to…
Diagnosis can be difficult to achieve for rare disease patients. Some patients experience years of searching for the correct diagnosis, with others receiving the wrong one along the way. Changes…
Past research has shown up to 83 genes and genetic loci associated with glaucoma. However, reports the Massachusetts Eye and Ear Infirmary in a news release, new research has identified…
According to a study from Hindawi, a team of scientists have reported the discovery of never before seen mutations that are linked to Alport syndrome, a rare kidney disease. These…
A recent article in the journal Nature describes the first draft of human genome analysis and sequencing published in 2001 by the Human Genome Project international consortium. The consortium included…
During a recent WZDX News interview with Dr. David Bick, HudsonAlpha Faculty Investigator Dr. Bick stated that in Alabama alone, there are approximately four hundred thousand people with rare diseases.…
Genetic testing is being used more frequently to screen people for the hereditary risk of cancer, according to MedCity News. While advancements have been made and research is ongoing, there…
Researchers have not always understood why some people develop Addison's disease, a rare autoimmune condition affecting the adrenal glands, over others. Now, a new study conducted by Swedish and Norwegian…
The United Kingdom has taken a big step in the right direction for rare disease patients, as they have recently created the UK Rare Diseases Framework. This framework is intended…
As society becomes increasingly technological, researchers are getting closer and closer to mapping the entire human genome. In facts, shares Medical XPress, we may be nearly there. While many…
The last decades have seen significant progress when it comes to medical care for rare diseases. Tasks doctors once slaved over were transformed with better speed and efficiency by modern…
The Benefits of Genomics The use of genomics in health systems is becoming more of a standard practice. Health systems have been partnering with genomics databases to collect patient data.…
In every great mystery novel, there's a code that needs to be cracked so the protagonist can triumph in the end. When it comes to medicine, that code is the…
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