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Polyarticular juvenile idiopathic arthritis (PJIA): an interview with Dr. Kramer, VP, Immunology and Infectious Diseases Medical Unit, Genentech

Polyarticular Juvenile Idiopathic Arthritis (PJIA) is a type of Juvenile Idiopathic Arthritis (JIA), a group of Rheumatoid Arthritis (RA) diseases that manifests in multiple ways in children.

3 Jun 2014

Pathway Genomics introduces BRCA One for One program to detect breast and ovarian cancer

Pathway Genomics Corporation, a San Diego-based CLIA and CAP accredited clinical laboratory that offers genetic testing services globally, today announced it has launched BRCATrueTM, a next-generation sequencing and deletion/duplication analysis that can detect mutations in BRCA1 and BRCA2, the genes linked to breast, ovarian and other types of cancer.

3 Jun 2014

Exposure to elevated levels of steroid hormones in the womb linked to later development of autism

Scientists from the University of Cambridge and the Statens Serum Institute in Copenhagen, Denmark have discovered that children who later develop autism are exposed to elevated levels of steroid hormones (for example testosterone, progesterone and cortisol) in the womb. The finding may help explain why autism is more common in males than females, but should not be used to screen for the condition.

3 Jun 2014

Breast cancer worry, risk behavior higher among teenage girls

Teenage girls with a familial or genetic risk for breast cancer worry more about getting the disease, even when their mother has no history, compared to girls their age with no known high risks, according to new data presented today by researchers from Penn Medicine's Abramson Cancer Center at the annual meeting of the American Society of Clinical Oncology in Chicago (Abstract #9527).

3 Jun 2014

CHLA researchers develop novel NextGen sequencing approach for retinoblastoma

Researchers at Children's Hospital Los Angeles have developed a unique next-generation sequencing test for the gene linked to retinoblastoma. The new approach is both more comprehensive and can be conducted in less time than existing tests - enabling early detection of the cancer's genetic cause, which is critical for optimal treatment outcomes.

3 Jun 2014

NYU Langone scientists identify promising treatment target for Alzheimer's disease

Scientists at NYU Langone Medical Center have identified a compound, called 2-PMAP, in animal studies that reduced by more than half levels of amyloid proteins in the brain associated with Alzheimer's disease.

3 Jun 2014

Variations in BRCA2 and CHEK2 genes can increase lung cancer risk, study finds

New research confirms a vulnerability to lung cancer can be inherited and implicates the BRCA2 gene as harboring one of the involved genetic mutations.

3 Jun 2014

Oncologists urged to consider financial impact of treatments

The American Society of Clinical Oncology is developing a system to rate drugs for advanced cancer based on their likely benefits and side effects, as well as on their price. Meanwhile, better long-term care is urged for the millions who survive the disease and a report details how drugmakers are tailoring treatments to individuals' genetic makeups even though that may affect only small numbers of people.

3 Jun 2014

Cerenis’ SAMBA and MODE Phase II Studies Meet Primary Endpoints for Treatment of FPHA, HoFH

Cerenis Therapeutics, the biopharmaceutical company, today announced that two of its Phase II studies, SAMBA and MODE (Modifying Orphan Disease Evaluation), with CER-001, an engineered human apoA-I-containing pre-β HDL mimetic, met their primary clinical endpoints in patients with Familial Primary Hypoalphalipoproteinemia (FPHA) and Homozygous Familial Hypercholesterolemia (HoFH), respectively.

2 Jun 2014

First Edition: June 2, 2014

Today's headlines include reports about state health law implementation activities as well as the next steps regarding the difficulties at the VA health system.

2 Jun 2014

Molecular mechanism linked to increased risk of diabetes in people with cystic fibrosis

Many people with cystic fibrosis develop diabetes. The reasons for this have been largely unknown, but now researchers at Lund University in Sweden and  Karolinska institutet have identified a molecular mechanism that contributes to the raised diabetes risk.

2 Jun 2014

Compound in saliva may protect from toxins in tea, coffee and liquid smoke flavoring

A compound in saliva, along with common proteins in blood and muscle, may protect human cells from powerful toxins in tea, coffee and liquid smoke flavoring, according to results of a new study led by investigators at the Johns Hopkins Kimmel Cancer Center.

2 Jun 2014

Ibrutinib outperforms ofatumumab as second-line therapy for CLL treatment

In a head-to-head comparison of two Food and Drug Administration-approved drugs for the treatment of relapsed chronic lymphocytic leukemia (CLL), ibrutinib significantly outperformed ofatumumab as a second-line therapy, according to a multicenter interim study published in the OnLine First edition of the New England Journal of Medicine.

2 Jun 2014

Study suggests new targets for treating rare genetic disorder and cancer

The combined action of two enzymes, Srs2 and Exo1, prevents and repairs common genetic mutations in growing yeast cells, according to a new study led by scientists at NYU Langone Medical Center.

2 Jun 2014

Collaborative research effort produces new genetic insights into brainstem glioma

A collaborative effort between Duke Medicine researchers and neurosurgeons and scientists in China has produced new genetic insights into a rare and deadly form of childhood and young adult brain cancer called brainstem glioma.

2 Jun 2014

BRCA2 gene doubles lung cancer risk among smokers

Around a quarter of smokers who carry a defect in the BRCA2 gene will develop lung cancer at some point in their lifetime, a large-scale, international study reveals.

2 Jun 2014

Scientists define genetic cause for two types of birth defects in newborn boys

Baylor College of Medicine scientists defined a previously unrecognized genetic cause for two types of birth defects found in newborn boys, described in a report published today in the journal Nature Medicine.

2 Jun 2014

New genes involved in taste perception effective in weight loss and improve quality of life

New understanding of the genes involved in taste perception and food preferences could lead to personalised nutrition plans effective not just in weight loss but in avoiding diseases such as cancer, depression, and hypertension, Italian researchers will tell the annual conference of the European Society of Human Genetics (ESHG) today (Monday).

2 Jun 2014

Myriad myRisk test solves overlap dilemma between hereditary cancer syndromes

Myriad Genetics, Inc. today presented several clinical studies on the Myriad myRisk- Hereditary Cancer test at the 2014 American Society of Clinical Oncology annual meeting in Chicago, Illinois.

2 Jun 2014

Pivotal clinical validation study of Myriad myPath Melanoma test presented at ASCO 2014

Myriad Genetics, Inc. today presented results from a pivotal clinical validation study of the Myriad myPath- Melanoma test at the 2014 American Society of Clinical Oncology annual meeting in Chicago, Ill.

2 Jun 2014

Genetic News and Research

Polyarticular juvenile idiopathic arthritis (PJIA): an interview with Dr. Kramer, VP, Immunology and Infectious Diseases Medical Unit, Genentech

Pathway Genomics introduces BRCA One for One program to detect breast and ovarian cancer

Exposure to elevated levels of steroid hormones in the womb linked to later development of autism

Breast cancer worry, risk behavior higher among teenage girls

CHLA researchers develop novel NextGen sequencing approach for retinoblastoma

NYU Langone scientists identify promising treatment target for Alzheimer's disease

Variations in BRCA2 and CHEK2 genes can increase lung cancer risk, study finds

Oncologists urged to consider financial impact of treatments

Cerenis’ SAMBA and MODE Phase II Studies Meet Primary Endpoints for Treatment of FPHA, HoFH

First Edition: June 2, 2014

Molecular mechanism linked to increased risk of diabetes in people with cystic fibrosis

Compound in saliva may protect from toxins in tea, coffee and liquid smoke flavoring

Ibrutinib outperforms ofatumumab as second-line therapy for CLL treatment

Study suggests new targets for treating rare genetic disorder and cancer

Collaborative research effort produces new genetic insights into brainstem glioma

BRCA2 gene doubles lung cancer risk among smokers

Scientists define genetic cause for two types of birth defects in newborn boys

New genes involved in taste perception effective in weight loss and improve quality of life

Myriad myRisk test solves overlap dilemma between hereditary cancer syndromes

Pivotal clinical validation study of Myriad myPath Melanoma test presented at ASCO 2014

eBook: Using iPSCs models for human disease research and drug discovery eBook

Bringing real-time analytics to downstream bioprocess monitoring

Designing fluidic architecture for scalable diagnostic platforms

Evaluating new approaches for rare disease genomics

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