Careful attention to phenotyping diseases, facilitated by
our knowledge of the human genome and computational analysis, has allowed observant physicians and physician - scientists to identify and categorize diseases in a manner that has informed basic science, given it new contexts, and in many instances provided important new directions for investigation.
«This work is a great example of how
knowledge of the human genome sequence can lead to valuable insights into human diseases.
The most likely outcomes from
our knowledge of the human genome will continue to orbit around sequencing techniques and basic biological discoveries.
«The time is right for pursuing the complex question of healthy aging given the rapid advances in analytical technologies and the expanding
knowledge of the human genome and microbiome and their interactions.
This innovation could revolutionize medicine and
our knowledge of the human genome.
Despite the significant insights gained from large - scale studies designed to interpret this instruction book, including HapMap, Encyclopedia of DNA Elements (ENCODE), and genome - wide association studies (GWAS),
our knowledge of the human genome remains far from complete.
Not exact matches
The, members
of the workshop believe that
knowledge gained from mapping and sequencing the
human genome can have great benefit for
human health and well being.
With the advances in
knowledge that are almost certain to be gained from the
Human Genome Initiative — or, if its critics should win the day and it lose support, from more piecemeal genetic - research — we will know more and - more about genetic factors causally related to health and disease and to other important aspects
of life, such as intelligence and emotional states.
The principles that have emerged thus far are these: We should seek new
knowledge of our genes (and we can say this without deciding whether the
Human Genome Initiative is the wisest and most cost - effective way to do so) We should seek therapies for the genetic disorders that afflict many people.
Since the completion
of the
Human Genome Project in 2003, scientists have expanded their
knowledge of how living cells work with new approaches including genomics, proteomics, and systems biology.
The partitioning
of humans into biological races was permissible when the
knowledge of our genetic inheritance was based on less than 0.1 percent
of the
human genome.
In this era
of the
human genome map, it would seem a simple matter to pinpoint the bit
of DNA responsible for each disease and use that
knowledge to find a cure.
«Having the
genome sequence is like having part of the instruction manual,» says study author Richard Wilson of Washington University in Saint Louis (W.U.), echoing the famous 2000 comment of then Human Genome Project leader Francis Collins, who called knowledge of our genome a «glimpse of our instruction book.&
genome sequence is like having part
of the instruction manual,» says study author Richard Wilson
of Washington University in Saint Louis (W.U.), echoing the famous 2000 comment
of then
Human Genome Project leader Francis Collins, who called knowledge of our genome a «glimpse of our instruction book.&
Genome Project leader Francis Collins, who called
knowledge of our
genome a «glimpse of our instruction book.&
genome a «glimpse
of our instruction book.»
He added: «The sequencing
of genomes from this key region will have a major impact on the fields
of palaeogeneomics and
human evolution in Eurasia, as it bridges a major geographic gap in our
knowledge.»
The
human genome is diploid, and
knowledge of the variants on each chromosome is important for the interpretation
of genomic information.
During those years, the way we study fundamental biological processes underwent a major shift that has now culminated in sequenced
human genomes,
knowledge of many cellular processes, and a clear path to unraveling roles for individual molecules.
Each
of the working groups is responsible for developing a proposal for a set
of genomes to sequence that would advance
knowledge in one
of three important scientific areas: identifying areas in genetic research where the application
of high - throughput sequencing resources would rapidly lead to significant medical advances; understanding
of the
human genome; and understanding the evolutionary biology
of genomes.
No doubt,
knowledge of the mouse
genome will help scientists design more effective mouse models for
human disease and disorder.
Building on the foundation laid by the
Human Genome Project, Dr. Collins is now leading NHGRI's effort to ensure that this new trove of sequence data is translated into powerful tools and thoughtful strategies to advance biological knowledge and improve human he
Human Genome Project, Dr. Collins is now leading NHGRI's effort to ensure that this new trove
of sequence data is translated into powerful tools and thoughtful strategies to advance biological
knowledge and improve
human he
human health.
ASHG and its members are committed to become fluent in the language
of the
genome, understand
human variation, and promote the public health as well as transfering new
knowledge to the next generation
of genetics professionals and the public in order to improve clinical practice.
This
knowledge, which will only be rapidly obtainable in the model organisms, will allow the reduction
of most
of the approximately 70,000 individual genes encoded by the
human genome into a much smaller number
of multicomponent, core processes
of known biochemical function.
«It's been 10 years since the
Human Genome Project was declared «complete,» but the amount
of genomic
knowledge we've gleaned since then — in large part due to advances in bioinformatics and supercomputing — have catapulted us far beyond what we thought we knew,» added Dr. Pollard.
Over the past two decades, we've been told that a new age
of molecular medicine — using gene therapy, stem cells, and the
knowledge gleaned from unlocking the
human genome — would bring us medical miracles.
A remarkable explosion
of new
knowledge about the developing brain and
human genome, linked to advances in the behavioral and social sciences, tells us that early experiences are built into our bodies and that early childhood is a time
of both great promise and considerable risk.
The Institute's aim is to realize the promise
of the
human genome to revolutionize clinical medicine and to make
knowledge freely available to scientists around the world.