Genetic Disorder News and Research

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A genetic disorder is a disease caused in whole or in part by a "variation" (a different form) or "mutation" (alteration) of a gene.

First multi-gene DNA sequencing test launched for cancer patients

The first multi-gene DNA sequencing test that can help predict cancer patients' responses to treatment has been launched in the National Health Service, thanks to a partnership between scientists at the University of Oxford and Oxford University Hospitals NHS Trust.

26 Mar 2013

TOBI Podhaler receives FDA approval for cystic fibrosis patients with Pseudomonas aeruginosa

The U.S. Food and Drug Administration today approved TOBI Podhaler (tobramycin inhalation powder) for the management of cystic fibrosis patients with Pseudomonas aeruginosa, a bacterium that causes lung infections.

24 Mar 2013

Translational Research's April issue examines progress, outlook of gene therapy research

The April issue of Translational Research examines the progress and outlook of gene therapy research, with a specific focus on the clinical applicability of gene therapy today.

22 Mar 2013

ACMG issues recommendations on handling of incidental findings in clinical genome, exome sequencing

In a highly anticipated report, landmark recommendations on the handling of incidental findings in clinical genome and exome sequencing are being issued from the American College of Medical Genetics and Genomics.

22 Mar 2013

MU researchers redefine key regulatory process in defective protein responsible for cystic fibrosis

A little more than a year after the FDA approved Kalydeco (Vx-770), the first drug of its kind to treat the underlying cause of cystic fibrosis, University of Missouri researchers believe they have found exactly how this drug works and how to improve its effectiveness in the future.

22 Mar 2013

Online database is speeding the search for diseases caused by rogue gene

A new online database combining symptoms, family history and genetic sequencing information is speeding the search for diseases caused by a single rogue gene.

20 Mar 2013

Alnylam begins dosing in Phase I clinical trial with ALN-TTRsc for treatment of ATTR

Alnylam Pharmaceuticals a leading RNAi therapeutics company, announced today that it has initiated dosing in its Phase I clinical trial with ALN-TTRsc, an RNAi therapeutic targeting transthyretin (TTR) for the treatment of TTR-mediated amyloidosis (ATTR).

19 Mar 2013

Researchers find white blood cells produce and eliminate RBCs

Researchers at Albert Einstein College of Medicine of Yeshiva University and the Icahn School of Medicine at Mount Sinai have found that macrophages - white blood cells that play a key role in the immune response - also help to both produce and eliminate the body's red blood cells (RBCs).

18 Mar 2013

Parents most interested in growth and development of their children, says pediatrician

We know how Mary, Mary, Quite Contrary's garden grows, but what about our kids? From marks on a wall to spending what seems like a fortune on clothes, parents are often fascinated by the growth of their children.

14 Mar 2013

Non-invasive prenatal genetic screening: an interview with Dr. Charles Strom, Senior Medical Director, Quest Diagnostics

A new category of non-invasive genetic screening tests is gaining a great deal of interest in the medical field – including from Quest Diagnostics -- for its potential to help screen women during pregnancy for genetic abnormalities known as trisomies, the most common of which is Down syndrome.

From Quest Diagnostics 13 Mar 2013

Study combines induced pluripotent stem cell technology and genetic correction to treat DMD

Researchers at the University of Minnesota's Lillehei Heart Institute have combined genetic repair with cellular reprogramming to generate stem cells capable of muscle regeneration in a mouse model for Duchenne Muscular Dystrophy (DMD).

7 Mar 2013

University of Sunderland pharmaceutical scientists receive CFUK grant for research into cystinosis

Pharmaceutical scientists at the University of Sunderland have been awarded £125,000 by the Cystinosis Foundation (CF) UK to fund the next stage of their research into a rare genetic disease.

7 Mar 2013

Screening healthy adults could potentially prevent rare genetic disorders

Millions of people unknowingly carry rare gene mutations that put them at high risk of developing preventable diseases such as colorectal cancer, breast cancer, and several catastrophic blood vessel disorders.

6 Mar 2013

AAP, ACMG release guidelines on best practices for genetic testing and screening of children

For the first time, the American Academy of Pediatrics (AAP) and the American College of Medical Genetics and Genomics (ACMG) spoke with one voice and released a set of recommendations and guidelines on best practices for genetic testing and screening of children.

5 Mar 2013

D.C., N.Y. hospitals consider new team-ups, merger

Health systems and hospitals in Washington and New York City are joining forces: In Washington, health systems are forming a bond they say will improve pediatric care. In New York, a merger of hospitals is proposed.

3 Mar 2013

First Edition: March 1, 2013

Kaiser Health News staff writer Mary Agnes Carey reports: "David P. Blom is one of thousands of hospital executives across the country who are bracing for a reduction in Medicare payments as part of a series of federal spending cuts that begin Friday. Blom, 58, is president and chief executive officer of OhioHealth, a Columbus, Ohio, based not-for-profit health care system that includes 18 hospitals, 23 health and surgery centers, home-health providers and other facilities."

1 Mar 2013

Pivotal study of olesoxime in Spinal Muscular Atrophy receives positive interim review

Trophos SA, a clinical stage pharmaceutical company developing innovative therapeutics from discovery to clinical validation for under-served medical needs in neurology and cardiology, announced the completion of the interim analysis of the pivotal efficacy study of olesoxime in the rare neurodegenerative condition Spinal Muscular Atrophy (SMA).

1 Mar 2013

Children's Oakland CF Center wins 2012 Quality Care Award from Cystic Fibrosis Foundation

Children's Hospital & Research Center Oakland's Cystic Fibrosis Center was recently awarded the Cystic Fibrosis Foundation's 2012 Quality Care Award. This prestigious award recognizes cystic fibrosis (CF) centers committed to improving the quality of patient care and providing better health outcomes for people with the life-threatening genetic disease. Children's Hospital Oakland was among 4 out of 22 centers in the country to receive the CF Foundation's award.

27 Feb 2013

Individuals with psychogenic disease do have brains that function differently

Psychogenic diseases, formerly known as 'hysterical' illnesses, can have many severe symptoms such as painful cramps or paralysis but without any physical explanation. However, new research from the University of Cambridge and UCL (University College London) suggests that individuals with psychogenic disease, that is to say physical illness that stems from emotional or mental stresses, do have brains that function differently.

25 Feb 2013

Orphan, CU to develop enzyme replacement therapy for CBS-deficient homocystinuria

The University of Colorado (CU) has signed exclusive, worldwide licensing and collaboration agreements with rare-disease research-and-development firm Orphan Technologies Ltd to develop an enzyme replacement therapy for Cystathionine Beta-Synthase (CBS) -deficient homocystinuria, a rare, inherited metabolic disease that is often fatal at a young age.

25 Feb 2013

Genetic Disorder News and Research

Further Reading

First multi-gene DNA sequencing test launched for cancer patients

TOBI Podhaler receives FDA approval for cystic fibrosis patients with Pseudomonas aeruginosa

Translational Research's April issue examines progress, outlook of gene therapy research

ACMG issues recommendations on handling of incidental findings in clinical genome, exome sequencing

MU researchers redefine key regulatory process in defective protein responsible for cystic fibrosis

Online database is speeding the search for diseases caused by rogue gene

Alnylam begins dosing in Phase I clinical trial with ALN-TTRsc for treatment of ATTR

Researchers find white blood cells produce and eliminate RBCs

Parents most interested in growth and development of their children, says pediatrician

Non-invasive prenatal genetic screening: an interview with Dr. Charles Strom, Senior Medical Director, Quest Diagnostics

Study combines induced pluripotent stem cell technology and genetic correction to treat DMD

University of Sunderland pharmaceutical scientists receive CFUK grant for research into cystinosis

Screening healthy adults could potentially prevent rare genetic disorders

AAP, ACMG release guidelines on best practices for genetic testing and screening of children

D.C., N.Y. hospitals consider new team-ups, merger

First Edition: March 1, 2013

Pivotal study of olesoxime in Spinal Muscular Atrophy receives positive interim review

Children's Oakland CF Center wins 2012 Quality Care Award from Cystic Fibrosis Foundation

Individuals with psychogenic disease do have brains that function differently

Orphan, CU to develop enzyme replacement therapy for CBS-deficient homocystinuria

Genetics & Genomics - Second Edition 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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