Calendar of events

From Human Genetics Interest Group

Jump to: navigation, search


Contents

Future Meetings

Next Meeting

19th November 2009

Steve Bleyl, MD, PhD

Title

Previous Meetings

15th October 2009

Robert Weiss, PhD

The role of nicotinic acetylcholine receptor variants in nicotine addiction and smoking-related disease


24th September 2009

David Grunwald, PhD

Intracellular calcium mobilization in muscle disease, muscle development, and cell signaling


20th August 2009

Lisa Joss-Moore, PhD

Developmental Origins of Disease; Is Epigenetics a Contributing Mechanism?

This discussion will focus on the evidence for the Developmental Origins of Disease hypothesis as well as support for epigenetics as a mechanism connecting a late fetal insult to an adult disease phenotype. Particular emphasis will be placed on the effects of intrauterine growth restriction on the epigenetic profile of the IGF-1 and PPARg genes in a rat model.

References:


16th July 2009

Joshua Schiffman, MD

Exploring Copy Number Aberrations (CNAs) in the Cancer Genome

Copy number aberrations (CNAs) recently have been recognized to play a large role in tumor cancer genetics. During this talk, we will review a new genomic technology called Molecular Inversion Probes (MIPs) which helps to identify copy number changes both in germline and tumor samples. We will focus on pediatric leukemia, brain tumors, and Ewing's Sarcoma. We also will review the contribution of copy number variations (CNVs) to cancer susceptibility in children.

References:


18th June 2009

Mark Metzstein,PhD

The ins and outs of nonsense mediated mRNA decay targeting: introns on the out?

Dr. Metzstein will be discussing recent work looking at the mechanisms by which cells recognize mutant transcripts containing premature termination codons. Such mutations are a major cause of genetic disease and NMD plays an important role modulating expression of such mutated transcripts.

References:

21st May 2009

Charles Murtaugh, PhD

Thinking about mice as a model for human disease genetics, and vice-versa

The Murtaugh lab studies development and disease of the pancreas, with a particular emphasis on intercellular signaling pathways active in this organ. One of the pathways in which we are particularly interested is the Wnt/beta-catenin pathway, which we have shown to play a critical role in the embryonic development of the pancreas. I will talk about two components of the Wnt signaling pathway that have recently been implicated in human genetic diseases, TCF7L2 and PORCN, and how we are using mice to determine their function in the pancreas and elsewhere.

References:


16th April 2009

Kathryn Swoboda, MD

Spinal Muscular Atrophy: A Model for Early Intervention in Neurodegeneration

This discussion will highlight perspectives to consider as we try to advance therapies for neurological degenerative diseases, with SMA as a model for discussion, emphasizing importance of accurate natural history data and other issues which currently preclude meaningful translation from therapies directed to animal models to related human neurologic conditions.

References:


19th March 2009

Anne Moon, MD, PhD

Fgf signaling in heart development and congenital heart disease

Anne Moon will discuss studies by her lab and others to identify the molecular and cellular bases of congenital heart disease in the context of the common human genetic defect deletion 22q11. The talk will include introductions to congenital heart disease and heart development and then delve into mouse models generated to understand how alterations in fgf signaling and dysfunction of genes that regulate common pathways contribute to congenital heart disease.

References:


19th February 2009

Josef Prchal, MD

Germ-line and Somatic Mutations causing Polycythemias: Many genes, many phenotypes

Dr. Prchal will discuss the following:

- Define regulation of red cell production (erythropoiesis)

- Define the physiological conditions associated with too may red cells (polycythemias)

- Concentrate on pathological deregulating of red cell production causing polycythemias

- Discuss his lab’s work on germ-line and somatic mutations causing polycythemias

References:


15th January 2009

Mark Yandell, PhD

So you've sequenced everyone, now what? Creating a knowledgebase for personal genomics.

Sequencing costs continue to fall and $1000 genomes may not be far off; in a few years having you genome sequenced may be as common a procedure as having your blood typed. Although the utility of personal genomics for prognosis is still hotly debated, one thing is clear: creating a bioinformatics framework to mine the complete genome sequences of potentially millions of individuals is a challenge. The problem isn’t just the number of nucleotides; it’s the diverse data associated with them. Scientific literature, medical histories, pedigrees, the contents of online databases such as OMIM and dbSNP—all of these diverse data must be extracted from their current locations and combined with gene annotations in a way that will permit novel discovery.

In partnership with Omicia genomics (www.omicia.com) we are developing a genome knowledgebase for candidate gene and sequence variation identification and prioritization; we call it GIS (Gene Inference System). The GIS knowledgebase combines natural language processing, ontologies, and sequence homology data in a unified framework. GIS is based on the premise that analysis of sequence homology data and information derived from it can be used to identify previously unrecognized genes and sequence variations likely to play a causative role in human disease. This knowledge can then be used to shape pharmacological research strategies or to preferentially select potential genetic markers for further analysis.

I will discuss a bit about how a knowledgebase is constructed, and explain some of the difficulties involved in extracting data from online resources and combining with them with sequence variation and gene annotations. I will also describe some of the methods we are developing to mine these data.

References:


18th December 2008

Dean Li, MD

Vascular Stability and the Genetics of Stroke

20th November 2008

Kevin Flanigan, MD

New Directions in Diagnosis and Treatment of Duchenne Muscular Dystrophy

Dr. Flanigan will discuss new methodologies and algorithms for the diagnosis of the dystrophinopathies (Duchenne and Becker Muscular Dystrophies). These diagnostic approaches allow the identification of cohorts available for clinical trials based upon therapeutic strategies that are in some cases specific to certain mutation classes. Some of these are already in clinical trials, and will be discussed, including (1) suppression of nonsense mutations via translational readthrough, (2) antisense oligonucleotide-induced exon skipping to restore an open mRNA reading frame, and (3) virally-mediated minigene delivery.

Suggested reading:


16th October 2008

Hilary Coon, PhD.

Genetics of Autism

Dr. Coon will be joined for part of the talk by Reid Robison, MD, who is also working on autism. This talk will deal with phenotype definition, genetic analysis, and current work on animal models.

Suggested reading:

Retrieved from "http://malachite.genetics.utah.edu/hgig/index.php/Calendar_of_events"