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News Release
NIH grants aim to gauge if genomics can be used to help diagnose diabetes, manage heart disease and guide cancer clinicians to the most effective drugs.
… be cost-effective," said Dr. Flockhart. Tailoring diabetes treatments All too often, monogenic diabetes - which accounts …
For Patients and Families
List of resources to help you find accurate and reliable information on genetic and rare diseases.
… These articles discuss the effects in humans of various treatments that have been tested or used in a specific … contains more than 4,000 articles on conditions, treatments, and much more. NIH Resources PubMed …
News Release
Using a recently developed DNA base-editing technique, researchers correct accelerating aging disorder.
… present an exciting new pathway for investigation into new treatments and the cure for children with progeria.” …
News Release
A repurposed cancer drug appears to reduce the severity of lesions and pain experienced by people with Proteus syndrome
… can be managed with surgery, but there are no effective treatments for this disorder. By the time they reach their … cause of Proteus syndrome and, now, his resolve in finding treatments for the devastating complications that accompany …
Genetic Disorders
Phenylketonuria is an inherited disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine.
For Patients and Families
Neglected diseases are conditions that inflict severe health burdens on the world's poorest people.
… cannot recover the cost of developing and producing treatments for these diseases. Another reason neglected … to be effective against the disease. Finally, no good treatments exist for some neglected diseases. Much needs to … it makes good economic sense to provide health care and treatments to people suffering from neglected diseases. For …
Genetic Disorders
Prostate cancer is a disease where certain cells in the prostate become abnormal and multiply to form a tumor.
News Release
The Clinical Sequencing Exploratory Research Consortium has offered an ethical framework to guide pediatricians in pursuing clinical sequencing studies.
… for both early and late-onset conditions if childhood treatments exist to modify or prevent disease from developing. However, if effective treatments for late-onset conditions can begin in adulthood, … of genomic variants that can immediately help guide treatments. Life-threatening conditions , whether related to …
News Release
Researchers recommend more rigorous clinical study of dietary management practices for patients with IEMs, which may result in reformulating some medical foods.
… now detected by routine newborn screening. Despite current treatments, the disorder can cause recurrent episodes of … 2004 and 2014. The research team closely monitored their treatments and responses. Most of the patients received part … medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For …
News Release
Researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease.
… all groups was hope that the new human genome editing treatments would reduce suffering, prevent disease …