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Cutting-edge DNA mapping technology identified new genetic information that can help researchers decipher more genetic diseases, a new study found.
Cutting-edge DNA mapping technology has identified new genetic information that can help researchers decipher more genetic ...
Scientists found a genetic link between autism and DM1, where repeat DNA sequences disrupt brain gene splicing. This sheds ...
Researchers from the Francis Crick Institute, UCL, Gustave Roussy and Memorial Sloan Kettering Cancer Center (MSK), have ...
One Faribault, Minnesota, woman says every day is simply a "gift" as she's the only known person in the world with her unnamed genetic disorder ... with chronic kidney disease, neurofibromatosis ...
Aim We share the lessons learnt from the first 3 years of the Undiagnosed Diseases Program-Victoria, an Australian programme embedded within a clinical genetics service in the state of Victoria with a ...
Danon disease is a “rare genetic disorder that can affect you in many ways. It most often damages your heart, muscles, retina and brain, though symptoms vary from person to person,” according ...
Genetic diseases, which range between 7,000 and 11,000 types globally, affect a significant portion of the population. "National and international studies suggest that 4% to 6% of the population ...
Opus Genetics is a clinical-stage ophthalmic biopharmaceutical company developing therapies to treat patients with inherited retinal diseases (IRDs) and other treatments for ophthalmic disorders. Our ...
Opus Genetics is a clinical-stage ophthalmic biopharmaceutical company developing therapies to treat patients with inherited retinal diseases (IRDs) and other treatments for ophthalmic disorders.
The objectives are as follows: To evaluate the benefits and harms of using NGS techniques compared to conventional newborn screening alone for pre-symptomatic identification of genetic diseases in ...
The registry is recruiting Australians with a known or suspected rare genetic disease as part of a national study focused on understanding their underlying cause, and is led by Associate Professor ...