For the first time, a research study has discovered a genetic marker related to high-risk neuroblastoma. According to Medical XPress, researchers determined that anaplastic lymphoma kinase (ALK) gene mutations and…
Mobility issues are common in patients with osteogenesis imperfecta (OI) - especially tendinopathy, or tendonitis. But why does this happen? According to Medical XPress, a study performed by Baylor College…
Early diagnosis and prompt treatment are absolutely necessary for the best outcomes in many rare disorders. Keratoconus, a rare disease that impacts the cornea, is no exception. It is best…
Charcot-Marie-Tooth disease (CMT) is associated with a number of genetic mutations. In fact, the different mutations signify specific CMT subtypes, such as CMT1 or CMT3. According to Charcot-Marie-Tooth News,…
Head and neck squamous cell carcinoma (SCC) is considered both aggressive and difficult to treat. In fact, doctors estimate that nearly 50% of all patients will eventually see the recurrence…
Currently, there is no cure for mesothelioma, and many treatment options revolve around surgery, radiation, or therapy. But could targeted treatment and precision oncology provide better patient outcomes? According to…
Poly ADP ribose polymerase (PARP) inhibitors are targeted cancer therapies which block PARP, an enzyme. Normally, PARP plays a role in DNA repair. Thus, inhibiting PARP prevents cancer cells from…
In a recent news release, gene therapy company Taysha Gene Therapies ("Taysha") shared the publication of preclinical data on the company's drug candidate, TSHA-102. Currently, Taysha is exploring TSHA-102 as…
Gene therapy is a recent development in the industry, and it is one that has brought hope to many people who live with a genetic condition without a viable treatment…
With genetic disorders, there is always a big question: do specific gene mutations respond differently to treatment? How can treatment be targeted to best suit the needs of patients? According…
Each year, researchers make new strides into genetic research, including the discovery of new genetic disorders. According to Medical XPress, researchers from the University of Portsmouth and the University of…
Leigh syndrome is a rare mitochondrial disease that is not yet well understood by medical professionals. When this lack of comprehension exists, it is impossible to create treatments or improve…
Despite the pandemic, there were many strides in the field of medicine and research in 2020. For example, researchers first discovered and identified a rare disease called VEXAS syndrome. The…
Genomic testing is a great way to learn not just about your genes, but how your genes impact your health. In support of the Phase 2 CRESTONE clinical trial, a…
According to a recent article in Fierce Biotech, most cancers progress through constant cell division. Scientists at Vanderbilt University are determined to find the reason for this mysterious cell division.…
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…
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…
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…
Since Bertrand Might was first diagnosed with NGLY1 deficiency in 2012, medical research around this extremely rare genetic condition has expanded. Unfortunately, Bertrand passed away in October 2020. However, his…
At the very start of the new year, researchers out of the Washington University in St. Louis shared some exciting medical research: the discovery of two gene variants, associated with…
Each year, January 24 marks International Alagille Syndrome Awareness Day. During this day, organizations across the globe raise awareness around Alagille Syndrome (ALGS), from offering educational resources to allowing patients…
Recently, scientists have been exploring a more genetically-based underlying cause of pancreatic cancer. Now, according to Medical XPress, researchers are deepening their understanding of genetics and pancreatic cancer in relation…
What if there was a way to genetically prevent the development of certain conditions, such as Alzheimer's disease? According to Medical XPress, this might soon be an option on the…
A CNBC News item announced a digital chemistry breakthrough that may revolutionize the entire drug industry. The chemists at Glasgow University’s Cronin Lab have created software that sends out instructions…
In late September and early October, the North American Cystic Fibrosis Conference (NACFC) went virtual, as many conferences and symposia this year have been forced to do. However, that does…
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