Gene mutations describe a change in the DNA sequence that makes up a gene. There are many kinds of gene mutations which have been characterized by scientists. The main categories of mutations are germline mutations, which occur in the gametes (haploid male or female reproductive cells), and somatic mutations, occur in all other cell types. Chromosomal alterations are mutations that change the structure of chromosomes in a variety of ways such as deletion, duplication, insertion, translocation, or inversion of a section of the chromosome. Point mutations include a single nucleotide change within the DNA and these mutations can be classified as silent (the mutation codes for the same amino acid so the change has no effect), missense (the mutation codes for an alternative amino acid), and nonsense (the mutation codes for a premature stop codon). Frameshift mutations occur when the addition or deletion of nucleotide(s) alter the reading frame of the sequence altering all subsequent amino acid coding.
Derivation of many different cell types from human pluripotent stem cells (embryonic stem cells or HESCs and induced pluripotent stem cells or hiPS cells) is an area of growing interest both ...
Currently, prostate cancer is the second leading cause of death from cancer in North America, the most frequent malignancy in men from all ethnicities, surpassing lung cancer. Prostate tumors...
DATE: November 2, 2017TIME: 10:00am PDT, 1:00pm EDTA CRISPR Way of Making MiceThe bulk of genetic variation associated with human disease exists in the noncoding genome, much of whi...
Acral lentiginous melanoma (ALM) is a rare sun-shielded melanoma subtype associated with worse survival than cutaneous melanoma (CM), a more common form of skin cancer linked to exposure to u...
We developed two computational methods, CARE and TIDE, to predict response and resistance to targeted therapies and immunotherapies. CARE infers gene signatures of targeted therapy response b...
There has been a great deal of renewed attention in immuno-oncology over the last decade. Therapies for cancer are being developed, approved, and administered that can either initiate,...
DATE: September 19, 2017TIME: 10:30am PDT/ 1:30pm EDT/ 7:30pm CESTPart 1 – Cigall Kadoch, Ph.D. (30 min.)Exome- and genome-wide sequencing studies in human cancer have...
Creating inducible Pluripotent Stem Cell (iPSC) collections of rare patients scattered world-wide can lower the barrier of biological discovery of rare disease, provide a platform for potenti...
Diabetes is a debilitating chronic disease that is spirally out of control. Fundamentally, the progressive failure of pancreatic beta cells results in decreased insulin secretion, ultimately ...
The emergence of technology for development of induced pluripotent stem cells (iPSCs) from somatic cells, such as skin and blood cells, has resulted in the ability of researchers to have limi...
DATE: June 8, 2017TIME: 10:00AM PDT, 1:00PM EDT, 7:00PM CESTAlzheimer’s Disease (AD) is the result of complex interactions between risk factors that cause pleiotropic changes in m...
Nucleotide variation in gene regulatory elements is a major cause of human disease. Despite continual progress in the cataloging of these elements, little is known about the code and grammati...
Boston Children’s Hospital is developing the infrastructure needed for large-scale psychiatric research and treatment discovery. The Manton Center for Orphan Disease Research and...
CALIXAR has developed an innovative detergent/surfactant based approach consisting on native isolation and stabilization of therapeutic membrane protein targets such as GPCRs, ion channels, t...
DATE: May 9, 2017TIME: 8:00am PT, 11:00am ETHearing loss is the most common sensory defect in humans. It affects 360 million people worldwide and by 2020, that number is predi...
DATE: April 20th, 2017TIME: 10:00AM SGT, 11:00AM KST, 12:00PM AEST, 2:00PM NZSTWith increasing breadth and depth of genomics studies across a range of cancers, it is now apparent that t...
As next generation sequencing has lowered the price of DNA sequencing orders of magnitude below what it cost to create the first consensus human genome, the sheer diversity of human sequence...
Studying the genetics of rare congenital disorders disrupting cognitive function has led to the identification of multiple disease genes that helped us better understand the mechanisms underl...
DATE: February 8, 2017TIME: 1:30pm PT, 4:30pm ETThe powerful and expanding use of genetically modified mice introduces important aspects of genetics in managing these strains for breedi...
DATE: February 8, 2017TIME: 10:30am PT, 1:30pm ETThe cat remains an important comparative species for studying the long-term safety and efficacy of emergent medical modalities, such as...
DATE: December 13, 2016TIME: 8:00 AM PT, 11:00 AM ETUnderstanding physiological mechanisms regulating growth and nutrient deposition in rainbow trout is central to establish production...
The generation of induced pluripotent stem cells (iPSCs) from adult easily accessible somatic tissues was introduced ten years ago. This technology has revolutionized our opportunities to stu...
Sanger sequencing and polymerase chain reaction (PCR) methods have been the standard molecular methods in clinical diagnostics for decades. Next-Generation Sequencing (NGS) technology r...
Induced pluripotent stem cells derived from patient cells have emerged as complementary tools to study human neurological disorders. Neurxstem Inc has generated human iPSC-derived synth...
Derivation of many different cell types from human pluripotent stem cells (embryonic stem cells or HESCs and induced pluripotent stem cells or hiPS cells) is an area of growing interest both ...
Currently, prostate cancer is the second leading cause of death from cancer in North America, the most frequent malignancy in men from all ethnicities, surpassing lung cancer. Prostate tumors...
DATE: November 2, 2017TIME: 10:00am PDT, 1:00pm EDTA CRISPR Way of Making MiceThe bulk of genetic variation associated with human disease exists in the noncoding genome, much of whi...
Acral lentiginous melanoma (ALM) is a rare sun-shielded melanoma subtype associated with worse survival than cutaneous melanoma (CM), a more common form of skin cancer linked to exposure to u...
We developed two computational methods, CARE and TIDE, to predict response and resistance to targeted therapies and immunotherapies. CARE infers gene signatures of targeted therapy response b...
There has been a great deal of renewed attention in immuno-oncology over the last decade. Therapies for cancer are being developed, approved, and administered that can either initiate,...
DATE: September 19, 2017TIME: 10:30am PDT/ 1:30pm EDT/ 7:30pm CESTPart 1 – Cigall Kadoch, Ph.D. (30 min.)Exome- and genome-wide sequencing studies in human cancer have...
Creating inducible Pluripotent Stem Cell (iPSC) collections of rare patients scattered world-wide can lower the barrier of biological discovery of rare disease, provide a platform for potenti...
Diabetes is a debilitating chronic disease that is spirally out of control. Fundamentally, the progressive failure of pancreatic beta cells results in decreased insulin secretion, ultimately ...
The emergence of technology for development of induced pluripotent stem cells (iPSCs) from somatic cells, such as skin and blood cells, has resulted in the ability of researchers to have limi...
DATE: June 8, 2017TIME: 10:00AM PDT, 1:00PM EDT, 7:00PM CESTAlzheimer’s Disease (AD) is the result of complex interactions between risk factors that cause pleiotropic changes in m...
Nucleotide variation in gene regulatory elements is a major cause of human disease. Despite continual progress in the cataloging of these elements, little is known about the code and grammati...
Boston Children’s Hospital is developing the infrastructure needed for large-scale psychiatric research and treatment discovery. The Manton Center for Orphan Disease Research and...
CALIXAR has developed an innovative detergent/surfactant based approach consisting on native isolation and stabilization of therapeutic membrane protein targets such as GPCRs, ion channels, t...
DATE: May 9, 2017TIME: 8:00am PT, 11:00am ETHearing loss is the most common sensory defect in humans. It affects 360 million people worldwide and by 2020, that number is predi...
DATE: April 20th, 2017TIME: 10:00AM SGT, 11:00AM KST, 12:00PM AEST, 2:00PM NZSTWith increasing breadth and depth of genomics studies across a range of cancers, it is now apparent that t...
As next generation sequencing has lowered the price of DNA sequencing orders of magnitude below what it cost to create the first consensus human genome, the sheer diversity of human sequence...
Studying the genetics of rare congenital disorders disrupting cognitive function has led to the identification of multiple disease genes that helped us better understand the mechanisms underl...
DATE: February 8, 2017TIME: 1:30pm PT, 4:30pm ETThe powerful and expanding use of genetically modified mice introduces important aspects of genetics in managing these strains for breedi...
DATE: February 8, 2017TIME: 10:30am PT, 1:30pm ETThe cat remains an important comparative species for studying the long-term safety and efficacy of emergent medical modalities, such as...
DATE: December 13, 2016TIME: 8:00 AM PT, 11:00 AM ETUnderstanding physiological mechanisms regulating growth and nutrient deposition in rainbow trout is central to establish production...
The generation of induced pluripotent stem cells (iPSCs) from adult easily accessible somatic tissues was introduced ten years ago. This technology has revolutionized our opportunities to stu...
Sanger sequencing and polymerase chain reaction (PCR) methods have been the standard molecular methods in clinical diagnostics for decades. Next-Generation Sequencing (NGS) technology r...
Induced pluripotent stem cells derived from patient cells have emerged as complementary tools to study human neurological disorders. Neurxstem Inc has generated human iPSC-derived synth...
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