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Noninvasive prenatal screening could detect maternal cancer

A study published today in the Journal of the American Medical Association shows that genetic test results, as revealed by non-invasive prenatal testing for fetal chromosome abnormalities, may detect underlying conditions in the mother, including cancer.

15 Jul 2015

$Wayne State researchers explore effects of Tocotrienol-rich fraction from palm oil in ESRD patients$

Wayne State researchers explore effects of Tocotrienol-rich fraction from palm oil in ESRD patients

End-stage renal disease (ERSD) is the last stage of chronic kidney disease where the kidneys function at under 10 to 15 percent of their normal capacity. At this stage, kidneys cannot effectively remove waste or excess fluid from the blood system, and dialysis or a kidney transplant is necessary to live.

14 Jul 2015

Chances of undergoing secondary surgery vary for children with cleft lip and palate

For children with cleft lip and palate, the chances of undergoing secondary surgery vary depending on the center where they're treated, reports a study in Plastic and Reconstructive Surgery--Global Open, the official open-access medical journal of the American Society of Plastic Surgeons.

13 Jul 2015

SUNY Downstate Medical Center researchers identify ALPIM syndrome as new spectrum disorder

The relationship between mental and physical health is well established. But when mental and physical illnesses co-occur, patients' accounts of physical illness are sometimes arbitrarily discredited or dismissed by physicians.

10 Jul 2015

Starting anti-HIV treatment early improves survival among patients with newly diagnosed TB

Starting anti-HIV treatment within two weeks of the diagnosis of tuberculosis, or TB, improved survival among patients with both infections who had very low immune-cell counts, according to an analysis by researchers at the University of Pittsburgh Graduate School of Health.

10 Jul 2015

Mothers of infants with Down's syndrome need tailored breastfeeding guidance

Despite compelling evidence about the benefits of breastfeeding little is known about the breastfeeding experiences of mothers of infants with Down's syndrome. In the UK, clinical commissioning groups and practitioners have a vital role in empowering and enabling these women to access help and support as soon as the child is born.

9 Jul 2015

Faster weight gain during inpatient treatment safe, effective for anorexia patients

A new study led by Johns Hopkins Medicine researchers of patients hospitalized with anorexia nervosa shows that a faster weight gain during inpatient treatment — well beyond what national standards recommend — is safe and effective.

9 Jul 2015

Researchers identify link between hormonal factors and endometrial cancer risk among women with Lynch syndrome

For women with Lynch syndrome, an association was found between the risk of endometrial cancer and the age of first menstrual cycle, having given birth, and hormonal contraceptive use, according to a study in the July 7 issue of JAMA. Lynch syndrome is a genetic condition that increases the risk for various cancers.

8 Jul 2015

IRB Barcelona scientists provide molecular details about Seckel Syndrome

Today in Nature Communications, scientists at the Institute for Research in Biomedicine (IRB Barcelona) provide molecular details about Seckel Syndrome, a rare disease that causes microcephaly, or small brain, and growth delays.

8 Jul 2015

Scientists and families to gather in The Woodlands, Texas to build up community around Christianson Syndrome

It takes a committed community to develop effective treatments for a new disease. With that hope, scientists and families will come together in a Houston suburb July 30- Aug. 2 to build up the community around Christianson Syndrome, a genetic intellectual disability disorder, often associated with autistic features, first discovered 16 years ago.

7 Jul 2015

Researchers identify link between autoimmune diseases, medications and Long QT syndrome

Mohamed Boutjdir, PhD, professor of medicine, cell biology, and physiology and pharmacology at SUNY Downstate Medical Center, has led a study with international collaborators identifying the mechanism by which patients with various autoimmune and connective tissue disorders may be at risk for life-threatening cardiac events if they take certain anti-histamine or anti-depressant medications.

7 Jul 2015

Breakthrough discovery could help young girls suffering from rare form of epilepsy

An international team, led by a University of Adelaide genetics expert, has made a breakthrough discovery which is expected to help thousands of young girls worldwide who are suffering from a rare yet debilitating form of epilepsy.

7 Jul 2015

Akcea Therapeutics obtains FDA Orphan Drug Designation for volanesorsen

Akcea Therapeutics, a wholly-owned subsidiary of Isis Pharmaceuticals, Inc., announced today that the U.S. Food and Drug Administration has granted Orphan Drug Designation to volanesorsen (ISIS-APOCIIIRx) for the treatment of patients with Familial Chylomicronemia Syndrome (FCS).

6 Jul 2015

Penn study suggests future precision medicine approach to treating diabetes, other metabolic disorders

In the first study of its kind, Penn researchers have shown how an anti-diabetic drug can have variable effects depending on small natural differences in DNA sequence between individuals. Mitchell Lazar, MD, PhD, Raymond Soccio, MD, PhD, and colleagues at the Perelman School of Medicine at the University of Pennsylvania, aim to apply this knowledge to develop personalized approaches to treating diabetes and other metabolic disorders.

3 Jul 2015

Research finding could lead to first effective therapies, vaccines against dengue virus

Researchers at Vanderbilt University and the National University of Singapore have determined the structure of a human monoclonal antibody which, in an animal model, strongly neutralizes a type of the potentially lethal dengue virus.

3 Jul 2015

New imaging technique helps pinpoint significant event that leads to age-related chromosomal errors

When egg cells form with an incorrect number of chromosomes--a problem that increases with age--the result is usually a miscarriage or a genetic disease such as Down syndrome.

2 Jul 2015

Study demonstrates the important role of placebo effect in medical care

The "placebo effect" is often described as events that occur when patients show improvement from treatments that contain no active ingredients.

2 Jul 2015

Study provides insights into the cause of irritable bowel syndrome

A team comprised of scientists at VIB, KU Leuven and UZ Leuven has made significant progress in uncovering the connection between psychological factors and the immune system. Their findings are based on an investigation of a massive drinking water contamination incident in Belgium in 2010, and are now published in the leading international medical journal Gut.

2 Jul 2015

HIV capsid protein plays crucial role in the virus' life cycle

HIV, or human immunodeficiency virus, is the retrovirus that leads to acquired immunodeficiency syndrome or AIDS. Globally, about 35 million people are living with HIV, which constantly adapts and mutates creating challenges for researchers. Now, scientists at the University of Missouri are gaining a clearer idea of what a key protein in HIV looks like, which will help explain its vital role in the virus' life cycle.

2 Jul 2015

ASHG declares 2015 recipients of annual Award for Excellence in Human Genetics Education

The American Society of Human Genetics (ASHG) has named Robert L. Nussbaum, M.D., chief medical officer of invitae and clinical professor of medicine (volunteer) at the University of California, San Francisco (UCSF); Roderick R. McInnes, CM, M.D., Ph.D., director of the Lady Davis Institute at the Jewish General Hospital and Alva chair in human genetics, Canada Research chair in neurogenetics, and professor of human genetics and biochemistry at McGill University; and Huntington F. Willard, Ph.D., president and director of the Marine Biological Laboratory and professor of human genetics at the University of Chicago; as the 2015 recipients of its annual Award for Excellence in Human Genetics Education.

1 Jul 2015

Syndrome News and Research

Noninvasive prenatal screening could detect maternal cancer

Wayne State researchers explore effects of Tocotrienol-rich fraction from palm oil in ESRD patients

Chances of undergoing secondary surgery vary for children with cleft lip and palate

SUNY Downstate Medical Center researchers identify ALPIM syndrome as new spectrum disorder

Starting anti-HIV treatment early improves survival among patients with newly diagnosed TB

Mothers of infants with Down's syndrome need tailored breastfeeding guidance

Faster weight gain during inpatient treatment safe, effective for anorexia patients

Researchers identify link between hormonal factors and endometrial cancer risk among women with Lynch syndrome

IRB Barcelona scientists provide molecular details about Seckel Syndrome

Scientists and families to gather in The Woodlands, Texas to build up community around Christianson Syndrome

Researchers identify link between autoimmune diseases, medications and Long QT syndrome

Breakthrough discovery could help young girls suffering from rare form of epilepsy

Akcea Therapeutics obtains FDA Orphan Drug Designation for volanesorsen

Penn study suggests future precision medicine approach to treating diabetes, other metabolic disorders

Research finding could lead to first effective therapies, vaccines against dengue virus

New imaging technique helps pinpoint significant event that leads to age-related chromosomal errors

Study demonstrates the important role of placebo effect in medical care

Study provides insights into the cause of irritable bowel syndrome

HIV capsid protein plays crucial role in the virus' life cycle

ASHG declares 2015 recipients of annual Award for Excellence in Human Genetics Education

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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