Syndrome News and Research

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Colonoscopy screening recommended for people with family history of colon cancer

A family history of colon cancer, also known as colorectal cancer or CRC, puts people at higher than average risk for developing the disease.

2 Mar 2010

Study results of new PCR technology that reports mutations associated with FXS announced

Asuragen, Inc. announced today the results of a collaborative study with scientists at the M.I.N.D. Institute at the University of California Davis evaluating a new PCR technology that reproducibly reports mutations associated with Fragile X syndrome (FXS).

2 Mar 2010

Research focuses on DYRK1A gene in association with Down's syndrome

Research undertaken in recent years on Down's syndrome has focused on the DYRK1A gene. The superexpression of this gene affects transmission in the neurones, according to Mr Garikoitz Azkona. In his PhD thesis, The molecular bases of neuropathology in Down's syndrome: the role of DYRK1A, Mr Azkona argues that this failure in neurone transmission could be behind the problem that persons with Down's syndrome have regarding visual-spatial memory.

2 Mar 2010

Determining personal risk for genetic disorders essential

Genetic diseases affect an estimated 12 million Americans, yet according to a survey of 1,000 people conducted by the Genetic Disease Foundation (GDF), while two-thirds of those surveyed were willing to and saw the benefits of undergoing genetic testing, close to 80 percent had never talked to their physician about genetic screening – an inconsistency that can have serious implications on a person's overall health and the health of their immediate family members.

1 Mar 2010

Habits of modern life may shorten life-span of the Millennium Generation

All parents dream of a better life for their children, but because of the habits of modern life, the Millennium Generation may be the first to suffer a shorter life-span.

1 Mar 2010

Using genetic engineering techniques in pigs, scientists create new model of diabetes

The incidence of diabetes is rising worldwide. Using genetic engineering techniques in pigs, scientists at Ludwig-Maximilians-Universität in Munich have created a new model of this metabolic disorder, which recapitulates many features of the disease, and promises to contribute significantly to improvements in diagnosis and therapy.

1 Mar 2010

NPS Pharmaceuticals supports second annual U.S. Rare Disease Day observance

NPS Pharmaceuticals, a specialty pharmaceutical company developing innovative therapeutics for rare gastrointestinal and endocrine disorders, announced today its support for the second annual U.S. Rare Disease Day observance on February 28.

1 Mar 2010

Researchers find gene regulator that plays key role in DS-AMKL

Between 5 and 10 percent of babies with Down syndrome develop a transient form of leukemia that usually resolves on its own. However, for reasons that haven't been clear, 20 to 30 percent of these babies progress to a more serious leukemia known as Down syndrome acute megakaryoblastic leukemia (DS-AMKL), which affects the blood progenitor cells that form red blood cells and platelets.

1 Mar 2010

CAMH signs licensing agreement with US-based Athena Diagnostics to market new genetic test

For the second time in as many months the Centre for Addiction and Mental Health has signed a licensing agreement with US-based Athena Diagnostics Inc. to market a new genetic test.

From Thermo Fisher Scientific Inc. 26 Feb 2010

Rare Disease Day 2010: Alexion Pharmaceuticals joins NORD and EURORDIS to raise awareness

Alexion Pharmaceuticals, Inc., has joined the National Organization for Rare Disorders (NORD) and the European Organization for Rare Diseases (EURORDIS) in supporting the goals of the third annual Rare Disease Day, February 28, 2010.

26 Feb 2010

Salmonella-infected mice help understand how symptoms of HLH develop

A new University of Colorado at Boulder study shows mice infected with the bacteria salmonella develop clinical signs consistent with a deadly and poorly understood human inflammatory disease, a finding that may lead to new therapies.

26 Feb 2010

Mutations in MeCP2 cause autism spectrum disorder Rett Syndrome

A paper published online today in Molecular Cell proposes that Methyl CpG binding protein 2 (MeCP2) impacts the entire genome in neurons, rather than acting as a regulator of specific genes. Mutations in MeCP2 cause the autism spectrum disorder Rett Syndrome as well as some cases of neuropsychiatric problems including autism, schizophrenia and learning disabilities.

26 Feb 2010

Baby Angels Foundation established to support bereaved parents in Minnesota and western Wisconsin

The death of a child is one of the most painful losses a family can experience, and when it happens unexpectedly it can leave them feeling confused and helpless. To help families cope immediately and long after this tragic event, Becca Peden and Serena Gragert have established the Baby Angels Foundation, a nonprofit organization aimed at raising awareness of Sudden Infant Death Syndrome (SIDS) and funding much-needed resources for bereaved parents in Minnesota and western Wisconsin.

26 Feb 2010

Approval of smoke-free legislation: Huge step forward to protect workers and public from secondhand smoke

The Kansas Legislature today delivered a historic victory for health and the public's right to breathe clean air by passing legislation to make almost all workplaces, including all restaurants and bars, smoke-free.

26 Feb 2010

Resverlogix commences enrollment in RVX-208 Phase 2 clinical trial for atherosclerosis in ACS patients

Resverlogix Corp. announced today that it has officially activated the first site for the ASSURE 1 trial and commenced enrollment of patients for dosing of RVX-208. ASSURE 1 is the second Resverlogix Phase 2 clinical trial, led by Cleveland Clinic. This trial will examine RVX-208, Resverlogix's oral small molecule therapy for the treatment of atherosclerosis, in patients with acute coronary syndrome (ACS). This preparatory acute coronary syndrome study will ensure that 50 percent of the enrolled patients receive the IVUS (intravascular ultrasound) assessment.

26 Feb 2010

CHOP and AIAM collaborate to develop more accurate child crash test dummies

A research report released today by The Children's Hospital of Philadelphia (CHOP) and the Association of International Automobile Manufacturers, Inc. (AIAM) details CHOP's cutting-edge work with academic and industry collaborators to develop more accurate child crash test dummies, called child anthropometric test devices (ATD's).

25 Feb 2010

NIH panel proposes multiple management strategies for lactose intolerant individuals

Lactose intolerance is a real and important clinical syndrome, but quantifying its public health burden is challenging. An NIH Consensus Development panel was convened this week to assess the available evidence on lactose intolerance and health across the age spectrum and across racial and ethnic groups.

25 Feb 2010

EpiCept provides business update and fourth-quarter financial highlights

EpiCept Corporation today announced operating and financial results for the fourth quarter and year ended December 31, 2009, and provided an update on Ceplene® and several of the Company’s key product candidates.

25 Feb 2010

Genetic Disorder Tracker introduced by Guidepoint Global

Guidepoint Global, LLC, a leading primary research firm, today announced the launch of their Genetic Disorder Tracker, a monthly longitudinal data release that captures commercial trends, on a worldwide basis, associated with the treatment of eight rare genetic disorders: Gaucher's disease, Fabry's disease, PKU, MPS I (Hurler Syndrome), MPS II (Hunter Syndrome), MPS VI (Maroteaux-Lamy Syndrome), Niemann-Pick disease and Pompe disease.

25 Feb 2010

QR Pharma awarded patent covering use of Posiphen and analogs in treatment of DS

QR Pharma, Inc., a developer of novel drugs to treat Alzheimer’s disease (AD), announced today that it was issued U.S. Patent No. 7,625,942, a "Method of Treating Down Syndrome" by the U.S. Patent and Trademark Office. The '942 patent covers use of Posiphen and analogs to treat cognitive impairments associated with Down Syndrome (DS). This patent valuably expands upon the original Posiphen and analog patent that claims composition of matter and use of compounds to lower amyloid-β precursor protein (APP) and thereby treat dementia and Alzheimer’s disease (AD).

24 Feb 2010

Syndrome News and Research

Colonoscopy screening recommended for people with family history of colon cancer

Study results of new PCR technology that reports mutations associated with FXS announced

Research focuses on DYRK1A gene in association with Down's syndrome

Determining personal risk for genetic disorders essential

Habits of modern life may shorten life-span of the Millennium Generation

Using genetic engineering techniques in pigs, scientists create new model of diabetes

NPS Pharmaceuticals supports second annual U.S. Rare Disease Day observance

Researchers find gene regulator that plays key role in DS-AMKL

CAMH signs licensing agreement with US-based Athena Diagnostics to market new genetic test

Rare Disease Day 2010: Alexion Pharmaceuticals joins NORD and EURORDIS to raise awareness

Salmonella-infected mice help understand how symptoms of HLH develop

Mutations in MeCP2 cause autism spectrum disorder Rett Syndrome

Baby Angels Foundation established to support bereaved parents in Minnesota and western Wisconsin

Approval of smoke-free legislation: Huge step forward to protect workers and public from secondhand smoke

Resverlogix commences enrollment in RVX-208 Phase 2 clinical trial for atherosclerosis in ACS patients

CHOP and AIAM collaborate to develop more accurate child crash test dummies

NIH panel proposes multiple management strategies for lactose intolerant individuals

EpiCept provides business update and fourth-quarter financial highlights

Genetic Disorder Tracker introduced by Guidepoint Global

QR Pharma awarded patent covering use of Posiphen and analogs in treatment of DS

Designing fluidic architecture for scalable diagnostic platforms

Evaluating new approaches for rare disease genomics

Expanding access to NMR with the Fourier 80 Duo

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