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News
We are thrilled that international
recognition of accomplishment has graced a CHGR faculty
member. Last week at the International Congress on Human
Genetics, David Altshuler
of the CHGR and the Broad Institute was awarded the
Curt Stern Award of the American Society of Human Genetics
for his significant achievements in advancing human
genetic research and collaboration among scientists
in this field. The Stern Award honors the memory of
Curt Stern (1902-1981) as an outstanding pioneering
human geneticist. This award is presented yearly for
outstanding scientific achievements in human genetics
that occurred in the last 10 years. The work could be
a single major discovery or may be a series of contributions
on a similar or related topic. This distinguished award
recognized David’s outstanding contributions as
a leader in the study of human genetic variation and
its application to common, complex diseases using tools
and knowledge gained from the Human Genome Project.
Please join Dr. Gusella and the entire CHGR faculty
in congratulating David Altshuler on this well-deserved
honor.
Once again this year, a CHGR investigator
was named winner of a major award at MGH Clinical Research
Day. Dr. Michael Talkowski
and his collaborators received the $5,000 Team Award
for their work on "Innovative diagnostic genomics
in patients with chromosomal rearrangements", congratulations!
President Obama announced CHGR Faculty Member Jose
Florez as a recipient of a 2011 Presidential
Early Career Award for Scientists and Engineers. This
award is the highest honor bestowed by the United States
Government on science and engineering professionals
in the early stages of their independent research careers.
This national recognition reflects the outstanding and
important work being conducted by Jose and his team
here at the CHGR, as they employ new technologies to
investigate how gene variants contribute to type 2 diabetes,
with the goal of developing improved, individualized
therapies.
Vamsi
Mootha has been named as one out of
only seventeen recipients of the 2011 Transformative
Research Project Award. Every year, the Director's Office
of the National Institutes of Health awards major grants
to researchers who challenge the status quo. Our best
wishes to Vamsi and his team as they continue investigating
his novel approach for treating disorders of mitochondria.
Upcoming Seminars
Wednesday,
November 30, 2011
12pm-1pm
Simches Research Building, 5th Floor
Darwin Conference Room 5.290A
Elizabeth Petri Henske,
MD. (Guest Speaker)
Autophagy and Glutamine Metabolism: New Therapeutic
Targets for Tuberous Sclerosis
Refreshments will be served!
Recent Publications
Testing for an Unusual Distribution
of Rare Variants. Click
here to read more.
Who’s Afraid of Anxiety Genetics? Click
here to read more.
Distinct Early Molecular Responses
to Mutations Causing vLINCL and JNCL Presage ATP Synthase
Subunit C Accumulation in Cerebellar Cells. Click
here to read more.
Personality and bipolar disorder:
dissecting state and trait associations between mood
and personality. Click
here to read more.
Co-segregation of Norrie disease and
idiopathic pulmonary hypertension in a family with a
microdeletion of the NDP region at Xp11.3-p11.4. Click
here to read more.
Association testing of TCF7L2 polymorphisms
with type 2 diabetes in multi-ethnic youth. Click
here to read more.
The genetics of type 2 diabetes: what
have we learned from GWAS? Click
here to read more.
Variants at APOE influence risk of
deep and lobar intracerebral hemorrhage.
Click here to read more.
Genome-Wide Association Study of Suicide
Attempts in Mood Disorder Patients.
Click here to read more.
Family-based genetic association study
of DLGAP3 in Tourette Syndrome. Click
for PDF.
Exome Sequencing, ANGPTL3 Mutations,
and Familial Combined Hypolipidemia. Click
here to read more.
White Matter Hyperintensity Burden
and Susceptibility to Cerebral Ischemia. Click
here to read more.
Personalized Medicine for Depression: Can We Match Patients
With Treatments? Click
here to read more.
Common mitochondrial sequence variants
in ischemic stroke. Click
here to read more.
Accurately Assessing the Risk of Schizophrenia
Conferred by Rare Copy-Number Variation Affecting Genes
with Brain Function.
Click here to read more.
High-throughput, pooled sequencing
identifies mutations in NUBPL and FOXRED1 in human complex
I deficiency. Click
here to read more.
Panic disorder and serotonergic genes (SLC6A4, HTR1A
and HTR2A): Association and interaction with childhood
trauma and parenting.
Click for PDF.
Integrating common and rare genetic
variation in diverse human populations. Click
for PDF.
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