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Researchers gain new insight into fragile X syndrome

Scientists have gained new insight into fragile X syndrome -- the most common cause of inherited intellectual disability -- by studying the case of a person without the disorder, but with two of its classic symptoms.

17 Jan 2015

FDA grants orphan drug status to NBI-77860 for treatment of congenital adrenal hyperplasia

Neurocrine Biosciences, Inc. announced today that NBI-77860, a proprietary corticotropin releasing factor 1 (CRF) receptor antagonist, has been granted orphan drug status by the United States Food and Drug Administration (FDA) for the treatment of congenital adrenal hyperplasia (CAH) a disease that affects approximately 20,000-30,000 people in the United States.

16 Jan 2015

Researchers reveal how melanoma becomes resistant to promising new drug combo therapy

In a new study led by UCLA Jonsson Comprehensive Cancer Center member Dr. Roger Lo, researchers have uncovered how melanoma becomes resistant to a promising new drug combo therapy utilizing BRAF+MEK inhibitors in patients after an initial period of tumor shrinkage.

16 Jan 2015

Researchers uncover new gene tied to incurable eye disorder

An exhaustive hereditary analysis of a large Louisiana family with vision issues has uncovered a new gene tied to an incurable eye disorder called retinitis pigmentosa, according to an examination led by scientists at The University of Texas Health Science Center at Houston.

16 Jan 2015

Study: Century-old drug may help treat autism

Autism spectrum disorders (ASD) affect 1 to 2 percent of children in the United States. Hundreds of genetic and environmental factors have been shown to increase the risk of ASD. Researchers at UC San Diego School of Medicine previously reported that a drug used for almost a century to treat trypanosomiasis, or sleeping sickness, reversed environmental autism-like symptoms in mice.

16 Jan 2015

New study characterizes genetic underpinnings of phyllodes tumors

A new study from researchers at the University of Michigan Comprehensive Cancer Center characterizes the genetic underpinnings of a rare type of breast tumor called phyllodes tumors, offering the first comprehensive analysis of the molecular alterations at work in these tumors.

16 Jan 2015

Women with postpartum depression during pregnancy may face greater risk, study finds

When it comes to postpartum depression, one size does not fit all, according to a new study led by University of North Carolina School of Medicine researchers.

16 Jan 2015

John H. Postlethwait selected to receive GSA's George W. Beadle Award

The Genetics Society of America is pleased to announce that John H. Postlethwait, PhD (University of Oregon) has been selected to receive the Society's George W. Beadle Award for outstanding contributions to the community of genetics researchers.

16 Jan 2015

Commercial space transportation industrys need to define medical care standards

The commercial aviation industry has medical care standards, as does NASA for traditional space missions, and the emerging commercial space transportation industry will need to define medical care practices as well.

15 Jan 2015

Advanced techniques may lead to screening tool for early detection of autism in children

Autism is a spectrum of closely related disorders diagnosed in patients who exhibit a shared core of symptoms, including delays in learning to communicate and interact socially. Early detection of autism in children is the key for treatments to be most effective and produce the best outcomes.

15 Jan 2015

Scientists identify first genetic marker linked to severe neurological toxicity

Paclitaxel is a chemotherapeutic drug that has been shown to be highly effective when treating solid tumours, such as breast, ovarian and lung tumours. However, its use frequently causes peripheral neuropathies, neurological problems that affect the vast majority of patients.

15 Jan 2015

Vascular and Alzheimer's-related brain abnormalities cause dementia in older people

A growing body of research suggests that the most common cause of dementia in older people is a mix of vascular and Alzheimer's-related brain abnormalities, and that approximately half of people who die with Alzheimer's also have evidence of strokes in their brains. Furthermore, when strokes and hallmark Alzheimer's plaques and tangles are combined, it increases a person's likelihood of experiencing dementia.

15 Jan 2015

British scientists take major initiative to tackle Crohn's disease

British scientists are playing a key role in a global quest to find the causes of an incurable bowel condition.

15 Jan 2015

People with iron overload disease are more vulnerable to Vibrio vulnificus infections

Every summer, the news reports on a bacterium called Vibrio vulnificus found in warm saltwater that causes people to get sick, or die, after they eat raw tainted shellfish or when an open wound comes in contact with seawater.

15 Jan 2015

UH Case Medical Center, ABL partner to design and validate HIV drug resistance tests

University Hospitals Case Medical Center has signed an agreement with Advanced Biological Laboratories, an information technology and diagnostic company based in Luxembourg, to join efforts on the designing and validation of an HIV drug resistance and tropism assay based on next-generation sequencing (NGS).

14 Jan 2015

TERT mutations may make smokers more susceptible to emphysema

Mutations in a gene that helps repair damaged chromosome ends may make smokers — especially female smokers — more susceptible to emphysema, according to results of a new study led by Johns Hopkins Kimmel Cancer Center researchers.

14 Jan 2015

Major investment boosts Scotland's gene research

A major investment in gene sequencing technology will secure Scotland's place as a world leader in a genomics revolution that is set to transform healthcare.

14 Jan 2015

Sophia Genetics obtains CE-IVD marking for BRCA1/2 testing solution

Sophia Genetics, the European leader in Data Driven Medicine, has today obtained CE-IVD marking for its solution to detect BRCA1/2 associated genetic variants in live tumours.

14 Jan 2015

New article discusses role of cytokines in breast cancer development, progression

Emerging data on the role of inflammation and the immune system in the development, growth, and spread of breast tumors have focused increased attention on the role cytokines such as interleukin and transforming growth factor-β play in breast cancer initiation, protection, and metastasis.

14 Jan 2015

Study: Race and ethnicity may affect breast cancer diagnoses, survival

Among nearly 375,000 U.S. women diagnosed with invasive breast cancer, the likelihood of diagnosis at an early stage, and survival after stage I diagnosis, varied by race and ethnicity, with much of the difference accounted for by biological differences, according to a study in the January 13 issue of JAMA.

14 Jan 2015

Genetic News and Research

Researchers gain new insight into fragile X syndrome

FDA grants orphan drug status to NBI-77860 for treatment of congenital adrenal hyperplasia

Researchers reveal how melanoma becomes resistant to promising new drug combo therapy

Researchers uncover new gene tied to incurable eye disorder

Study: Century-old drug may help treat autism

New study characterizes genetic underpinnings of phyllodes tumors

Women with postpartum depression during pregnancy may face greater risk, study finds

John H. Postlethwait selected to receive GSA's George W. Beadle Award

Commercial space transportation industrys need to define medical care standards

Advanced techniques may lead to screening tool for early detection of autism in children

Scientists identify first genetic marker linked to severe neurological toxicity

Vascular and Alzheimer's-related brain abnormalities cause dementia in older people

British scientists take major initiative to tackle Crohn's disease

People with iron overload disease are more vulnerable to Vibrio vulnificus infections

UH Case Medical Center, ABL partner to design and validate HIV drug resistance tests

TERT mutations may make smokers more susceptible to emphysema

Major investment boosts Scotland's gene research

Sophia Genetics obtains CE-IVD marking for BRCA1/2 testing solution

New article discusses role of cytokines in breast cancer development, progression

Study: Race and ethnicity may affect breast cancer diagnoses, survival

Sequencing & Genomics: Elevating Science and Healthcare 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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