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.

Arcturus to exhibit new mRNA therapeutics pipeline at two healthcare conferences

Arcturus Therapeutics Inc., developing the 'next wave' of RNA medicines, today announced that Joseph Payne, President and Chief Executive Officer, is scheduled to present a corporate overview, including the company's new messenger RNA (mRNA) therapeutics pipeline, at two upcoming healthcare conferences.

7 Jan 2015

Clementia secures additional $10 million to support development of palovarotene for treatment of FOP

Clementia Pharmaceuticals, Inc. today announced that it has secured an additional $10 million from current investors to support development of the company's lead compound palovarotene for the treatment of fibrodysplasia ossificans progressive (FOP).

5 Jan 2015

Early use of heart failure drugs slows cardiac damage in boys, young men with DMD

Early use of available heart failure drugs slows the progressive decline in heart function before symptoms are apparent in boys and young men with Duchenne muscular dystrophy (DMD), according to a new study published online by The Lancet Neurology.

30 Dec 2014

Medical researchers at Saint Louis University bring hope to those in pain and sickness

This year, Saint Louis University medical researchers advanced their fields, contributing to human knowledge and bringing hope to those in pain and sickness.

23 Dec 2014

New nationwide effort seeks to find novel approaches to treat ASD, intellectual disability

Some of the genetic diseases that can cause autism spectrum disorder (ASD) and intellectual disability (ID) are so rare that even physicians who specialize in treating them can't be certain they have seen every possible symptom.

19 Dec 2014

Brandeis University researchers capture highest resolution images of cilia ever

Cilia, the cell's tails and antennas, are among the most important biological structures. They line our windpipe and sweep away all the junk we inhale; they help us see, smell and reproduce. When a mutation disrupts the function or structure of cilia, the effects on the human body are devastating and sometimes lethal.

18 Dec 2014

Tel Aviv University study throws spotlight on gene mutation responsible for premature ovarian failure

Premature ovarian failure, also known as primary ovarian insufficiency (POI), affects 1% of all women worldwide. In most cases, the exact cause of the condition, which is often associated with infertility, is difficult to determine.

18 Dec 2014

UT Southwestern researchers identify possible therapy to treat neurofibromatosis type 1

UT Southwestern Medical Center researchers have identified a possible therapy to treat neurofibromatosis type 1 or NF1, a childhood neurological disease characterized by learning deficits and autism that is caused by inherited mutations in the gene encoding a protein called neurofibromin.

15 Dec 2014

Claritas, NextCODE Health partner to bring global leadership in pediatric medicine, sequence analysis

To rapidly expand the use and power of genomic sequencing for diagnosing and treating rare diseases, Claritas Genomics and NextCODE Health today announced a strategic partnership bringing together global leadership in pediatric medicine and sequence analysis. Claritas Genomics, affiliated with Boston Children's Hospital, is a CLIA-certified clinical laboratory serving the DNA-based diagnostic testing needs of children's hospitals that admit hundreds of thousands of patients with genetic disorders every year.

11 Dec 2014

Researchers freeze biological structures to illustrate DNA double-strand break process

Scientists from the Spanish National Cancer Research Centre, led by Guillermo Montoya, have developed a method for producing biological crystals that has allowed scientists to observe --for the first time-- DNA double chain breaks. They have also developed a computer simulation that makes this process, which lasts in the order of millionths of a second, visible to the human eye.

9 Dec 2014

Spark Therapeutics, Pfizer partner to develop SPK-FIX for potential treatment of hemophilia B

Spark Therapeutics, a late-stage gene therapy company developing treatments for debilitating genetic diseases, announced today that it has entered into a global collaboration with Pfizer Inc. for the development and potential commercialization of SPK-FIX, a development program advancing proprietary, bio-engineered adeno-associated virus (AAV) vectors for the potential treatment of hemophilia B.

8 Dec 2014

CNF names Elizabeth A. Thiele as winner of 2014 Infantile Spasms Heroes Award

Today the Child Neurology Foundation, named Elizabeth A. Thiele, MD, PhD, as its 2014 Infantile Spasms (IS) Heroes Award winner to help kick off IS Awareness Week (December 5-11, 2014). The IS Heroes Award was established in 2010 by CNF, www.childneurologyfoundation.org, to recognize a deserving healthcare professional for making a positive difference in the life of a child with infantile spasms.

5 Dec 2014

Most parents interested in newborn genomic testing, study reveals

A study published this week in Genetics in Medicine is the first to explore new parents' attitudes toward newborn genomic testing. The findings suggest that if newborn genomic testing becomes available, there would be robust interest among new parents, regardless of their demographic background.

5 Dec 2014

Hormone leptin increases blood pressure that occurs with weight gain

Leptin, a hormone that regulates the amount of fat stored in the body, also drives the increase in blood pressure that occurs with weight gain, according to researchers from Monash University and the University of Cambridge.

5 Dec 2014

Resveratrol in red wine may prevent cancer

Alcohol use is a major risk factor for head and neck cancer. But an article published in the November issue of the journal Advances in Experimental Medicine and Biology shows that the chemical resveratrol found in grape skins and in red wine may prevent cancer as well.

4 Dec 2014

Maternal age and successful egg freezing with PGS: an interview with Dr. Santiago Munné

The leading cause of of pregnancy loss or infertility is chromosomal abnormality or imbalance, where extra genetic material is present or some is missing - what’s called aneuploidy. This imbalance leads to the inability to produce viable embryos or pregnancy.

2 Dec 2014

Genetic Disorder News and Research

Further Reading

Arcturus to exhibit new mRNA therapeutics pipeline at two healthcare conferences

Clementia secures additional $10 million to support development of palovarotene for treatment of FOP

Early use of heart failure drugs slows cardiac damage in boys, young men with DMD

Medical researchers at Saint Louis University bring hope to those in pain and sickness

New nationwide effort seeks to find novel approaches to treat ASD, intellectual disability

Brandeis University researchers capture highest resolution images of cilia ever

Tel Aviv University study throws spotlight on gene mutation responsible for premature ovarian failure

UT Southwestern researchers identify possible therapy to treat neurofibromatosis type 1

Claritas, NextCODE Health partner to bring global leadership in pediatric medicine, sequence analysis

Researchers freeze biological structures to illustrate DNA double-strand break process

Spark Therapeutics, Pfizer partner to develop SPK-FIX for potential treatment of hemophilia B

CNF names Elizabeth A. Thiele as winner of 2014 Infantile Spasms Heroes Award

Most parents interested in newborn genomic testing, study reveals

Hormone leptin increases blood pressure that occurs with weight gain

Resveratrol in red wine may prevent cancer

Maternal age and successful egg freezing with PGS: an interview with Dr. Santiago Munné

DFG to establish eight new Collaborative Research Centres

Alport syndrome: an interview with Dr Paul Grint, CMO, Regulus

Clementia's palovarotene receives FDA Fast Track designation for FOP treatment

DFG to establish new Collaborative Research Centres

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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