Genetic Testing: The Future is Here
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…
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…
Every day, parents just like me sit in doctors’ offices searching for answers. They know something isn’t quite right. Maybe their child isn’t meeting milestones. Maybe their development has stalled,…
Recently at the World Orphan Drug Conference in Boston, Patient Worthy had the opportunity to meet with Dave Pearce PhD, Chair of International Rare Disease Research Consortium, (IRDiRC) Professor of…
According to a recent report on MedTechDive, Guardant Health has received U.S. Food and Drug Administration (FDA) approval for an updated version of its liquid biopsy assay, marking a significant…
Author's Note: Patient Worthy began following Natera following their presentation at the American College of Medical Genetics conference many years ago. Natera has been known for its advances in prenatal…
Biomarker analysis plays a pivotal role in cancer care and research, guiding the development of targeted therapies and enabling personalized treatment plans. While next-generation sequencing (NGS) has revolutionized the ability…
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…