New technologies and techniques continue to accelerate the pace of discovery in human genetics research, a fact made clear by scientists who spoke about their searches for important mutations, gene variants and answers to basic biological questions at the UCSF Institute for Human Genetics' fifth-anniversary symposium on Oct. 28.
The cost of spelling out the sequence of nucleic acids in long-stranded DNA molecules and incorporating these sequences into databases that can be used to probe links between genetic variation and disease risk keeps dropping, while the speed at which it can be done keeps getting faster.
These discoveries are beginning to make their way into medical practice as well, but the translation of lab findings into diagnostics and treatments proven safe and effective for standard medical practice cannot be expected to proceed at the same pace.
Even so, sequencing the entire genomes of cancer patients, as well the abnormal genomes of the tumors that plague them, may already have come to a nationally renowned medical center near you.
And in the search for genes at the root of inborn developmental disorders caused by DNA alterations in a single gene, highly skilled research teams no longer need to study the genes of large numbers of affected individuals to track down the gene at fault. It may be sufficient to sequence the genomes or partial genomes of a handful of patients, or even of one set of parents and a single child with the disease. A renaissance may be on the horizon for the discovery of causes of rare genetic disorders with simple Mendelian patterns of inheritance and distinctive clinical characteristics.
Read more at Jeffrey Norris, UCSF Science Cafe