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Two Penn researchers selected as recipients of prestigious Clinical Research Achievement Award

Two researchers from the Perelman School of Medicine at the University of Pennsylvania and the Penn Cardiovascular Institute are among the 2014 recipients of the prestigious Clinical Research Achievement Award for their work in cardiovascular science.

11 Apr 2014

Certain inherited DNA sequences may affect prognosis of bladder cancer patients

While patients diagnosed with bladder cancer usually face a favorable prognosis, many experience recurrence after treatment. Because frequent, painful screenings are needed to identify recurrences, the ablility to identify patients at high risk of recurrent cancer could help to improve quality of life for all bladder cancer patients.

29 Mar 2014

Research findings help explain rare genetic disorder that causes immunodeficiency syndrome

IRCM researchers led by Javier M. Di Noia, PhD, uncovered a new function of AID, a crucial enzyme for the immune response. The discovery, recently published by the scientific journal Proceedings of the National Academy of Sciences, helps explain a rare genetic disorder that causes an immunodeficiency syndrome.

28 Mar 2014

A fast, non-invasive method to genotype late-onset Alzheimer's disease

The apolipoprotein E gene ε4 allele is considered a negative factor for neural regeneration in late-onset Alzheimer's disease cases.

27 Mar 2014

Cell-free DNA analysis allows noninvasive tumour genotype monitoring

Noninvasive tumour genotyping using cell-free plasma DNA analysis is feasible, say US researchers who believe the technique will aid patient diagnosis and monitoring.

24 Mar 2014

Vitamin D receptor gene variant protects against male LUTS

An international research effort aimed at identifying the genetic basis of lower urinary tract symptoms has identified five candidate genes, one of which – encoding the vitamin D receptor – is consistently protective against these symptoms in men.

17 Mar 2014

Dampened reward response tied to schizophrenia risk

The striatal hypoactivation during reward anticipation seen in patients with schizophrenia is also present in their unaffected first-degree relatives, research shows.

17 Mar 2014

Researchers identify drug using yeast model that reduces levels of toxic protein in brains of AD patients

Using a yeast model of Alzheimer's disease (AD), Whitehead Institute researchers have identified a drug that reduces levels of the toxic protein fragment amyloid-β (Aβ) and prevents at least some of the cellular damage caused when Aβ accumulates in the brains of AD patients.

4 Mar 2014

Hypervirulent S. pneumoniae mutants discovered

Swedish researchers studying Streptococcus pneumoniae have discovered “hypervirulent” mutant forms of the bacteria that are selected for because they are more resistant to clearance by macrophages.

3 Mar 2014

RainDance Technologies closes $16.5 million Series E financing round

RainDance Technologies, Inc., an innovative genomics tools company making molecular testing of complex diseases more standardized and readily available, today announced that it has closed a $16.5 million Series E financing round extension. New investors include GE Ventures and Northgate Capital; all existing financial investors also participated in this round of financing.

3 Mar 2014

Study investigates associations between self-rated physical fitness and dementia risk

How would you rate your own physical fitness? Is it good, satisfactory or maybe even poor? Surprisingly, your answer may reveal your future risk of getting dementia.

26 Feb 2014

IRSF announces new research grants for translational research program and clinical trials

The International Rett Syndrome Foundation (IRSF) announces today ten (10) new research grants at leading global research institutions; a new Translational Research Program; and additional funding for current human clinical trials.

24 Feb 2014

MATH biomarker with HPV status may provide improved outcomes in HNSCC patients

Evaluating next-generation sequencing (NGS) data and associated clinical records of head and neck squamous cell carcinoma (HNSCC) patients from several institutions, made available through The Cancer Genome Atlas (TCGA), showed that combining Mutant-Allele Tumor Heterogeneity (MATH) as a biomarker with the patient's HPV status provides an effective indicator of improved patient outcome, according to research presented today at the 2014 Multidisciplinary Head and Neck Cancer Symposium.

21 Feb 2014

Heartier appetite linked to more rapid infant growth, weight gain

A heartier appetite is linked to more rapid infant growth and to genetic predisposition to obesity, according to two papers published in JAMA Pediatrics today (Monday).

18 Feb 2014

Common mutations produce typical schizophrenia brain changes

Mutations in dopamine-related genes have a dose-response effect on prefrontal activation during emotional response inhibition in healthy adults, a study shows.

13 Feb 2014

CHOP develops unique laboratory test to characterize genes that encode HLA molecules

Immunogenetics experts at The Children's Hospital of Philadelphia (CHOP) have developed a unique laboratory test to characterize the genes that encode HLA molecules. The test relies on faster, more comprehensive gene sequencing technology to type human leukocyte antigens (HLAs)--complex, highly variable proteins on cell surfaces that are essential to immune function.

13 Feb 2014

New study co-led by scientists sheds light on role of genes, blood lipid levels in cardiovascular health

New genetic evidence strengthens the case that one well-known type of cholesterol is a likely suspect in causing heart disease, but also casts further doubt on the causal role played by another type.

10 Feb 2014

Researchers shed light on role of genes and blood lipid levels in cardiovascular health

New genetic evidence strengthens the case that one well-known type of cholesterol is a likely suspect in causing heart disease, but also casts further doubt on the causal role played by another type. The findings may guide the search for improved treatments for heart disease.

9 Feb 2014

Rare and de novo mutations flesh out schizophrenia picture

Two studies in Nature show that rare disruptive and de novo mutations may contribute to the pathophysiology of schizophrenia.

6 Feb 2014

Neuroscientist, researchers receive Vilcek Prize in Biomedical Science

The Vilcek Foundation is pleased to name Thomas M. Jessell as the winner of the 2014 Vilcek Prize in Biomedical Science. Awarded annually, the Vilcek Prizes honor the contributions of immigrants to the American arts and sciences, and include $100,000 cash awards.

30 Jan 2014