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Gene therapy reduces infectious complications in children, teens with Wiskott-Aldrich syndrome

In a small study that included seven children and teens with Wiskott-Aldrich syndrome, a rare immunodeficiency disorder, use of gene therapy resulted in clinical improvement in infectious complications, severe eczema, and symptoms of autoimmunity, according to a study in the April 21 issue of JAMA, a theme issue on child health.

22 Apr 2015

UVA research identifies new role of immune system in Rett syndrome

The immune system is designed to protect us from disease. But what if it was malfunctioning? Would it make a disease worse? That appears to be the case with Rett syndrome, a neurodevelopmental disorder, and possibly in other neurological disorders as well, new research from the University of Virginia School of Medicine has found.

22 Apr 2015

Study attributes mild cognitive defects in women to post-traumatic stress induced by cancer diagnosis

Breast cancer patients often display mild cognitive defects even before the initiation of chemotherapy. A new study by Ludwig-Maximilians-Universitaet in Munich researchers now attributes the syndrome to post-traumatic stress induced by diagnosis of the disease.

21 Apr 2015

New CUMC study finds DNA anomalies in kids with chronic kidney disease

A significant proportion of children with chronic kidney disease (CKD) have unsuspected chromosomal imbalances, including DNA anomalies that have been linked to neurocognitive disorders, according to a new Columbia University Medical Center study.

21 Apr 2015

Nearly one-quarter of ICU survivors experience PTSD

Post-traumatic stress disorder is often thought of as a symptom of warfare, major catastrophes and assault. It's rarely considered in patients who survive a critical illness and stay in the intensive care unit (ICU).

21 Apr 2015

Latest genome sequencing techniques help identify new autoimmune syndrome in children

Using the latest genome sequencing techniques, a research team led by scientists from UC San Francisco, Baylor College of Medicine, and Texas Children's Hospital has identified a new autoimmune syndrome characterized by a combination of severe lung disease and arthritis that currently has no therapy.

21 Apr 2015

Pulmonary Hypertension Center at RI Hospital receives PHA accreditation

The Pulmonary Hypertension Center at Rhode Island Hospital is one of the nation's first centers of its kind to be accredited by the Pulmonary Hypertension Association. For those affected by pulmonary hypertension (PH), accreditation assures them and their providers that they have access to the most advanced care available in the country.

20 Apr 2015

Study: Cardiorespiratory fitness associated with reduced metabolic syndrome risk among smokers

Cardiorespiratory fitness is associated with reduced metabolic syndrome risk among smokers, according to researchers from The University of Texas Health Science Center at Houston (UTHealth) School of Public Health.

17 Apr 2015

RegeneRx joint venture retains Ora to carry out RGN-259/GBT201 clinical trials in U.S.

RegeneRx Biopharmaceuticals, Inc. today announced its U.S. joint venture with G-treeBNT (ReGenTree LLC) has retained Ora, Inc. to conduct a phase 3 clinical trial for the orphan disorder, neurotrophic keratopathy (NK), and a 2b/3 dose-response, confirmatory trial for dry eye syndrome (DES) in the U.S. Both trials will be testing ReGenTree's preservative-free eye drops, RGN-259/GBT201, this year.

16 Apr 2015

Study paves way for greater understanding of Attention Deficit Hyperactivity Disorder

Researchers at the Angiocardioneurology Department of the Neuromed Scientific Institute for Research, Hospitalisation and Health Care of Pozzilli (Italy), have found, in animal models, that the absence of a certain enzyme causes a syndrome resembling the Attention Deficit Hyperactivity Disorder (ADHD).

16 Apr 2015

Johns Hopkins researchers link sperm with specific 'epigenetic tags' to autism

In a small study, Johns Hopkins researchers found that DNA from the sperm of men whose children had early signs of autism shows distinct patterns of regulatory tags that could contribute to the condition. A detailed report of their findings will be published online in the International Journal of Epidemiology on April 15.

15 Apr 2015

Johns Hopkins researchers named recipients of Hartwell’s 2014 Individual Biomedical Research Award

Gul Dolen, M.D., Ph.D., an assistant professor of neuroscience at the Johns Hopkins University School of Medicine, and Eili Y. Klein, Ph.D., an assistant professor of emergency medicine, are among 12 recipients of The Hartwell Foundation’s 2014 Individual Biomedical Research Award competition, the foundation announced on April 1.

15 Apr 2015

BioLight Life Sciences announces first IOPtiMate™ system sale in Hungary

BioLight Life Sciences Investments Ltd., a firm that invests in, manages and commercializes biomedical innovations in ophthalmology and cancer diagnostics, today announced the first sale of the IOPtiMate™ system to a medical center located in Hungary.

14 Apr 2015

New study describes way to regenerate lung tissue after injury

A new collaborative study describes a way that lung tissue can regenerate after injury. The team found that lung tissue has more dexterity in repairing tissue than once thought.

13 Apr 2015

Stem cell disease model reveals how tumor suppressor may drive bone cancer

Using induced pluripotent stem cells (iPSCs), a team led by Mount Sinai researchers has gained new insight into genetic changes that may turn a well known anti-cancer signaling gene into a driver of risk for bone cancers, where the survival rate has not improved in 40 years despite treatment advances.

10 Apr 2015

Children who eat certain types of food more likely to contract Epstein-Barr virus

A new study by UNC Charlotte scholars is shedding light on the connection between diet and a common childhood disease.

9 Apr 2015

Cedars-Sinai Heart Institute sets new national standard for most adult heart transplants

The Cedars-Sinai Heart Institute completed 120 adult heart transplants and two adult heart-lung transplants in 2014, setting a new national standard for the most adult heart transplants performed in a single year.

9 Apr 2015

Clearer understanding of ORC offers new insight into fundamental DNA replication initiation mechanisms

A clearer understanding of the origin recognition complex (ORC) - a protein complex that directs DNA replication - through its crystal structure offers new insight into fundamental mechanisms of DNA replication initiation. This will also provide insight into how ORC may be compromised in a subset of patients with Meier-Gorlin syndrome, a form of dwarfism in humans.

9 Apr 2015

Phase 2 IMAGO trial of SHP625 fails to meet primary endpoints in pediatric patients with ALGS

Shire plc today announced that the 13-week Phase 2 IMAGO trial of its investigational compound SHP625 (LUM001) did not meet the primary or secondary endpoints in the study of 20 pediatric patients with Alagille syndrome (ALGS), a rare, life-threatening genetic disorder that presents with chronic cholestasis (accumulation of bile acids in the liver) and severe pruritus (itching).

9 Apr 2015

Researchers reveal molecular structure of cytotoxin from Mycoplasma pneumoniae

Researchers from the School of Medicine at The University of Texas Health Science Center at San Antonio today revealed the molecular structure of the cytotoxin from Mycoplasma pneumoniae, a widespread, highly contagious bacterium that infects the lungs.

8 Apr 2015

Syndrome News and Research

Gene therapy reduces infectious complications in children, teens with Wiskott-Aldrich syndrome

UVA research identifies new role of immune system in Rett syndrome

Study attributes mild cognitive defects in women to post-traumatic stress induced by cancer diagnosis

New CUMC study finds DNA anomalies in kids with chronic kidney disease

Nearly one-quarter of ICU survivors experience PTSD

Latest genome sequencing techniques help identify new autoimmune syndrome in children

Pulmonary Hypertension Center at RI Hospital receives PHA accreditation

Study: Cardiorespiratory fitness associated with reduced metabolic syndrome risk among smokers

RegeneRx joint venture retains Ora to carry out RGN-259/GBT201 clinical trials in U.S.

Study paves way for greater understanding of Attention Deficit Hyperactivity Disorder

Johns Hopkins researchers link sperm with specific 'epigenetic tags' to autism

Johns Hopkins researchers named recipients of Hartwell’s 2014 Individual Biomedical Research Award

BioLight Life Sciences announces first IOPtiMate™ system sale in Hungary

New study describes way to regenerate lung tissue after injury

Stem cell disease model reveals how tumor suppressor may drive bone cancer

Children who eat certain types of food more likely to contract Epstein-Barr virus

Cedars-Sinai Heart Institute sets new national standard for most adult heart transplants

Clearer understanding of ORC offers new insight into fundamental DNA replication initiation mechanisms

Phase 2 IMAGO trial of SHP625 fails to meet primary endpoints in pediatric patients with ALGS

Researchers reveal molecular structure of cytotoxin from Mycoplasma pneumoniae

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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