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…
In a press release by the Parkinson’s Foundation, the non-profit has announced an exciting collaboration with Sanofi, the global pharmaceutical company, which will dedicated $1 million to the nonprofit to…
When you think about genetic testing, what first comes to mind? Is it pancreatic cancer? While this might not be the first thing you consider, a new study suggests that…
According to Parkinson's News Today, the Parkinson's Foundation has released data from the PD GENEration study that shows that genetic testing is feasible for the larger Parkinson's community. As around…
According to StatNews, biotechnology company 23andme is looking to understand the intersection of genetics and COVID-19. Normally, 23andme uses ancestry kits to inform users of their genealogy. But now, the…
A 6-year-old girl presented with facial abnormalities, developmental delays, and issues with her renal system. Her family took her to their family physician. Then, when that uncovered no cause,…
According to Batten Disease News, Invitae and Axovant Gene Therapies partnered up to offer free genetic testing in North America. This will focus on children who are thought to…
When this 20-year-old male patient was serving in the military, he came down with two severe medical issues: pneumonia and adrenal crisis, categorized by an issue with an adrenal hormone…
When the 31-year-old woman showed up to Massachusetts General Hospital with a nasty respiratory infection, she was somewhat used to it. In fact, she had been plagued with respiratory problems…
So you're looking to get pregnant or curious about some part of it. Well, you've come to the right place! If you're looking to have a baby, but you also…
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