At the very core of genetic diseases are - well, our genes. However, each year, an estimated 400,000 infants are born with de novo mutations, or new and spontaneous gene mutations not…
As reported in Science Daily, researchers at the University of Bristol’s MRC Epidemiology Unit working with pharmaceutical companies have developed an approach to reduce the failure rate of developing drugs.…
As society becomes increasingly technological, researchers are getting closer and closer to mapping the entire human genome. In facts, shares Medical XPress, we may be nearly there. While many…
Recently, a team of Yale researchers wanted to understand how genetic mutations in patients with Rett syndrome resulted in neurological issues. Using a unique type of genetic testing, researchers were…
Last night, I texted my mom to ask what blood type I was. "Type A, I think? I'll have to check. Why?" she texted back. Well, I had just read…
A seemingly healthy baby was born in China. But as she grew up, her family started noticing that their daughter wasn't hitting motor milestones. She didn't start walking until she…
A few months ago, many of us were living completely different lives: going to rare disease conferences, heading to work each day, going out for food, seeing family and friends.…
Genetic research is a burgeoning and exciting field. With the discovery of new genetic mutations and variants comes a deeper understanding of rare diseases and their subtypes. According to Cancer…
According to Angelman Syndrome News, researchers used rat models of Angelman syndrome to test gene editing as a potential therapy. They found that CRISPR technology deleted the defective UBE3A gene. However, rats…
According to Charcot-Marie-Tooth News, a recent case study found that a variation of the SEPT9 gene could contribute to the development of Charcot-Marie-Tooth disease. Read the full findings in BMC Medical Genetics. Charcot-Marie-Tooth…
Genes themselves are a relatively new discovery, found only about a century ago. Gene therapy, a medical procedure that alters genes to address disease, is in its first 30 years.…
The NIH has awarded Geisinger Health System, along with the University of Washington in Seattle and Washington University in St. Louis, a $5.8 million, five-year grant to study the role of…
The 2019 Annual Clinical Genetic Meeting "Shaping The Future of Genetics and Genomics" This meeting is an opportunity for the medical genetics community to learn about the latest research, clinical…
According to a report by the Stamford Advocate, The Salem Health Cancer Institute recently launched a genetic program to help improve cancer treatment. Salem Health Hospitals and Clinics report that…
Fabry disease results from deficient activity of alpha-galactosidase A (a-GAL A). Bless you. What? That's an enzyme which breaks down complex sugar-lipid molecules called glycolipids. When the body can't break…
A recent study at the University of Edinburgh in Scotland is showing results that link genetics to certain forms of mental illness. Briefly mentioned was the fact that, although the…
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