For example, because both whole-genome and exome sequencing miss some genetic anomalies, a negative test will not rule out a genetic disease. So far, the authors note these tools are most useful for patients with rare single-gene disorders. Exome sequencing only identifies a genetic cause ...
Cystic fibrosis, a genetic disease that attacks the lungs, affects roughly 1 in 3,000 people, and cystic fibrosis-related diabetes (CFRD) is its most common complication, a rare and unique type that differs from more common forms such as type 1 and type 2 diabetes. CFRD results from damage...
Patients with one of these "single-hit" genetic abnormalities lived longer on lenalidomide maintenance therapy—for an average of 57.3 months (almost five years) before their disease progressed, compared to 10.9 months for those on observation alone. Those with "double hit" or no high-risk geneti...
Genetics and society: ethical aspects in genetics, impact of genomic medicine on public and patients, legal and reglementary aspects in genetics and clinical research, psychosocial aspects, rare diseases and genetics; Teaching and training in genetics; Genetic counseling; Please note: tumor genetics an...
identifying details should be omitted if they are not essential. Complete anonymity is difficult to achieve. For example, masking the eye region in photographs of patients is inadequate protection of anonymity. If identifying characteristics are altered to protect anonymity, such as in genetic pedigrees...
Normal and Pathogenic Functioning Related to Biochemical Genetic Disease Biochemical Studies of Primary and Secondary Enzyme Defects Thresholds, Moonlighting Functions of Proteins and Biochemical Network Modules Intercellular and Intracellular Metabolic RelationshipsArticle...
STD, which stands for sexually transmitted disease, is a severe medical condition that can be transmitted via sexual contact. Some of the common diseases include gonorrhea, genital herpes and Chlamydia. People can manage these conditions more easily if they are to know the various minor and major...
Prevention is always the best medicine, but because there are so many factors at work – some of which you can’t control, such as your age and genetic makeup – you can’t always avoid breast cancer. Still, there are some lifestyle changes you can make to reduce the likelihood of dev...
Neuroscience is a multidisciplinary field involving the study of the structure and function of the nervous system. The purpose is to understand the development of cognitive and behavioral processes as well as understand and find therapies for disorders, such as Alzheimer’s or Parkinson’s disease. ...
--For genetic nomenclature, please follow the recommendations of the Human Genome Organisation. Approved gene symbols, descriptions, and older aliases can be searched atwww.genenames.org. --For gene mutations, please see the HGVS website (atwww.hgvs.org[use the Recommendations Including Nomenclature...