This article was written by and shared with permission from Shannon Wieloch, MS. Shannon is a certified genetic counselor and patient advocate for the Aicardi-Goutiere Syndrome Advocacy Association and founder of Stork Genetics.…
In unedited, early-access research published in Nature, a team of researchers explain that an estimated 60% of people with neurodevelopmental disorders remain undiagnosed, despite comprehensive genetic testing options. In many cases, this is…
Researchers have previously linked TREX1 gene mutations to the development of a rare inherited small vessel disease called retinal vasculopathy with cerebral leukoencephalopathy (RVCL). What researchers didn't know was why these genetic…
Up to 10% of heart failure cases could be caused by cardiac amyloidosis. Yet amyloidosis remains underdiagnosed and misunderstood. Broadening our understanding of this rare disease could contribute to earlier…
Have you heard of antisense oligonucleotides (ASOs)? These short, synthetic strands of nucleic acids are designed to bind specifically to the mRNA transcripts of genes, blocking the production of disease-causing…
In 2010, K. Pattie Figueroa of the Spencer Fox Eccles School of Medicine at University of Utah was approached by a family whose child had spinocerebellar ataxia type 4 (SCA4).…
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…
Genes serve as the intricate orchestrators of our health. By better understanding our genetic makeup, we gain invaluable insights into how our genes shape and affect us. Yet the genetic…
Genes hold the key to our health. Through revolutionary gene therapy solutions, the medical field is transforming to laud the power and precision of personalized medicine. Gene therapy has the…
Editor's Note: We believe that patients are a key part of developing and leading the conversation in disease communities. Patient Worthy sometimes partners with reputable agencies that wish to speak…
Editor's Note: We believe that patients are a key part of developing and leading the conversation in disease communities. Patient Worthy sometimes partners with reputable agencies that wish to speak…
617 words (source - 3% match) vs. 452 words (mine - 4% match) As our healthcare field continues to innovate and grow, we have seen more conversations regarding gene therapy…
As our understanding of genetics increases, so does our awareness of the multitude of genetic diseases—many of which continue to be discovered to this day. While X-linked lymphoproliferative disease (XLP)…
Debbie Ferlito had always lived an active life. There was nothing she loved more than throwing herself into athletics, than testing the limits of her body. And she was…
Advances in research and medicine have improved the life expectancy for people with cystic fibrosis. But this doesn't mean that we should stop searching for a cure. Most likely,…
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…
In August 2022, I reported on a story that touched my heart: Lucy Landman's PGAP3 diagnosis. With less than 50 diagnosed cases of PGAP3 worldwide, parents Zach and Geri jumped…
As clinicians and scientists continue to delve into RNA sequencing benefits, they are learning how RNA sequencing provides insights for people with rare genetic conditions. The learning experience will provide…
Have you ever thought about your genes and what they do for your body? For example, the KRAS gene—do you know what it does? Normally, KRAS encodes for the production…
Usher syndrome is a rare genetic disorder that is characterized by deafness and often paired with retinitis pigmentosa (RP), an inherited disease which causes retinal degeneration and vision loss. There…
There are still many unknowns when it comes to our genetics. How do gene variants of unknown significance (VUS) affect us? In what ways can we identify if variants…
Altogether, there are an estimated 300,000 people in Ireland who are living with a rare disease. However, given the increasing amount of genetically-oriented rare diseases, it's possible that even…
Porphyria refers to a group of rare disorders that cause issues with the production of heme, which is part of what makes up hemoglobin (a protein in your red blood…
The first few years of Saylor Baysden’s life involved a good deal of medical confusion. Her family pursued testing, leading to two diagnoses in 2020-21: autism and epilepsy. But her…
Medical research is crucial in better understanding diseases and discovering novel treatment options. Unfortunately, there is often one large barrier to research: funding. This is especially true within the rare…
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