MyOme, a Menlo Park leader in clinical whole genome analysis, has announced a significant upgrade to its rare disease testing platform, now offering tandem repeat expansion (TRE) and mitochondrial genome…
Editor's Note: Patient Worthy is proud to share this article from our friends at the TESS Research Foundation. To see the article in its original format, please click here. TL;DR: CRISPR…
Editor's Note: Patient Worthy is honored to bring you this article from our friends at the Tess Research Foundation. To see the article in its original form, please click here.…
Editor's Note: Patient Worthy is honored to bring you this article, shared with us by our friends at the Tess Research Foundation. To see this article in its original state,…
Genetic testing is now more available than ever before. For those who suspect a genetic disorder, the best route is often through a genetic counselor. They can advise you not…
Baylor Genetics is set to showcase groundbreaking innovations in RNA sequencing for rare disease diagnosis at the 2025 Advances in Genome Biology and Technology (AGBT) Precision Health Meeting, according to…
Acknowledgement: This article was shared with Patient Worthy by our friends at Stork Genetics. To see the original article, please click here. For more information about women affected by X-linked…
Patient Worthy is honored to provide this story written by Shannon Wieloch by way of Stork Genetics. Stork Genetics is an organization that offers telehealth genetic counseling for adult, proactive,…
I always schedule my mammograms during October, as it’s Breast Cancer Awareness Month. It’s much easier to remember to get one when every network news anchor is passionately reminding me…
Rare Community Profiles is a Patient Worthy article series of long-form interviews featuring various stakeholders in the rare disease community, such as patients, their families, advocates, scientists, and more.…
Two emergency surgeries that began 48 hours after birth, meningitis, and over a month in the intensive care units of three Seattle hospitals prompted Layla Babayev’s desperate parents to enroll…
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…
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…
JScreen is a non-profit organization headquartered at the department of Human Genetics at Emory University in Atlanta. JScreen offers genetic testing and educational services, such as genetic counseling. JScreen's mission…
Rare Disease Diagnoses Get a Boost from Scientists’ New guidelines Professor Dame Sue Hill, Chief Scientific Officer of NHS England, recently interviewed with MedicalXpress citing the importance of unraveling the mystery…
Genetic testing has always been costly and directed at DNA sequencing. Only a limited number of genes could be tested. It was useful to a small number of patients…
According to a recent article, the European Society of Cardiology has recommended that athletes undergo gene testing to prevent sudden cardiac death from exercise. Gene Testing Lethal variants can be…
For many rare diseases, the symptoms and experiences of patients are variable. It's extremely rare - if possible at all - to see a rare disease that can be be…
A recent article shared the story of one family’s journey with multiple family members being diagnosed with progressive familial intrahepatic cholangitis (PFIC) after years of medical issues. Progressive Familial Intrahepatic…
If you could use a genetic test to determine your risk of developing a specific condition, would you? Earlier identification and diagnosis is crucial in improving patient outcomes, as well…
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…
According to Charcot-Marie-Tooth News, researchers have discovered a new subtype of Charcot-Marie-Tooth disease (CMT) linked to the sorbitol dehydrogenase (SORD) gene. Read the full study findings published in Nature Genetics. SORD Gene…
According to Oncology Nursing News, a new study performed by researchers at the Baylor College of Medicine used germline testing to identify genetic precursors to pediatric rhabdomyosarcoma. The study identified…
GeneDx, an OPKO Health company, has recently launched several genetic tests. Within this group of tests are repeat expansion analysis for Friedreich ataxia, spinocerebellar ataxia (SCA), and other forms of…
According to a story from GlobeNewswire, a new partnership between the precision genetic medicine company Akouos, Inc. and and Blueprint Genetics has produced the Resonate program, which aims to improve…
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