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.

Researchers identify candidate genes for histiocytoid cardiomyopathy

Researchers are closing in on a rare genetic disorder causing a heart condition in infants. Histiocytoid cardiomyopathy (HC) often causes sudden death before a child reaches 2 years of age. Gene analysis is helping to narrow the many theories surrounding the genetic basis of HC.

4 Jan 2012

FDA approves CSL Behring's Berinert for treatment of HAE attacks

CSL Behring today announced that the U.S. Food and Drug Administration (FDA) has approved a label expansion for self-administration of Berinert, C1 Esterase Inhibitor (Human), a pasteurized, nanofiltered therapy indicated for the treatment of acute attacks of hereditary angioedema (HAE), a rare and potentially fatal genetic disorder.

4 Jan 2012

Autism Speaks announces 47 new ASD research grants

Autism Speaks, the world's largest autism science and advocacy organization, today announced the awarding of 47 new research grants totaling $13,242,279 in funding over the next three years.

22 Dec 2011

Researchers demonstrate laser transmission spectroscopy

A team of researchers from the University of Notre Dame have demonstrated a novel DNA detection method that could prove suitable for many real-world applications.

17 Dec 2011

Scientists discover gene that causes Weaver syndrome

Scientists have found a gene that causes Weaver syndrome, a rare genetic disorder that typically causes large size at birth, tall stature, developmental delay during childhood, and intellectual disability.

16 Dec 2011

Scientists identify genetic alteration behind anophthalmia

Scientists at University College Dublin, Ireland, have identified a genetic alteration which causes a child to be born with no eyes - a condition called anophthalmia.

13 Dec 2011

Rare genetic condition provides insight into how pancreas develops

A rare genetic disorder has given researchers at the University of Exeter a surprising insight into how the pancreas develops. The finding provides a clue to how it may be possible to 'programme' stem cells - master cells in the body that can develop into specialised cells - to become pancreatic cells.

12 Dec 2011

Study explains molecular basis for cherubism disease

The Samuel Lunenfeld Research Institute's Drs. Frank Sicheri, Tony Pawson and Sebastian Guettler, in collaboration with Dr. Robert Rottapel at the Ontario Cancer Institute, have uncovered the detailed architecture of a crucial component of Tankyrase, a protein linked to the bone development disorder cherubism and involved in a myriad of cellular processes.

9 Dec 2011

Longer looks: Romney and abortion politics

The heart attacks never came. Four days later, Chris woke up. It was not the awakening of Hollywood movies in which the patient comes to, just as he was, speaking full sentences and completely mobile. Three years later, Chris still cannot talk. Although he breathes on his own, his lungs battle a steady barrage of infections; a feeding tube provides all his sustenance, and his muscles have contracted into short, twisted knots. He can move only the slightest bit. … Still, Wayne and Judy say that his cognition is improving.

9 Dec 2011

Considering varying extent to which genes are turned on or off can help develop personalised, predictive medicines

The vast majority of genetic disorders (schizophrenia or breast cancer, for example) have different effects in different people. Moreover, an individual carrying certain mutations can develop a disease, whereas another one with the same mutations may not. This holds true even when comparing two identical twins who have identical genomes. But why does the same mutation have different effects in different individuals?

8 Dec 2011

New gene editing technique can heal sickle cell patients with their own cells

Researchers at the Salk Institute for Biological Studies have developed a way to use patients' own cells to potentially cure sickle cell disease and many other disorders caused by mutations in a gene that helps produce blood hemoglobin.

8 Dec 2011

Israeli Nobel Laureate receives AvH's Humboldt Research Award

The Israeli Nobel Laureate Aaron Ciechanover has been named one of the recipients of the Humboldt Research Award of the Alexander von Humboldt Foundation.

8 Dec 2011

Relaxin improves poor blood flow and kidney function in a rat model of PKD

After a four-week course of the vasodilator hormone relaxin, kidney function and blood flow immediately improved in lab rats genetically altered to model polycystic kidney disease (PKD), a life-threatening genetic disorder, according to research presented on Dec. 6 at the American Society for Cell Biology Annual Meeting in Denver.

7 Dec 2011

Web-based video game players contribute to analysis of DNA sequences

Thousands of video game players have helped significantly advance our understanding of the genetic basis of diseases such as Alzheimer's, diabetes and cancer over the past year. They are the users of a web-based video game developed by Dr. J-r-me Waldispuhl of the McGill School of Computer Science and collaborator Mathieu Blanchette.

7 Dec 2011

U-M scientists generate Dravet-derived neurons

Scientists investigating the fundamental cause of Dravet syndrome, a severe childhood epilepsy, have reprogrammed fibroblasts, a type of skin cell, from Dravet patients and generated patient-specific neurons.

5 Dec 2011

Court OKs payment for bone marrow donation

A federal appeals court called bone marrow donation blood parts, not organ parts. The new reading of the federal prohibition could attract thousands more donors.

3 Dec 2011

First Edition: December 2, 2011

In today's headlines, reports on congressional efforts to extend a payroll tax break and other work Congress must do before the end of the year -- including the Medicare doc fix.

2 Dec 2011

Cancer researchers create catalog of possible targets for new treatments

As cancer researchers continue to identify genetic mutations driving different cancer subtypes, they are also creating a catalog of possible targets for new treatments.

1 Dec 2011

Santaris Pharma wins two LNA patent re-examination cases in the U.S.

Santaris Pharma A/S, a clinical-stage biopharmaceutical company focused on the discovery and development of RNA-targeted therapies, today announced that it has won two significant patent re-examination cases brought by Isis Pharmaceuticals.

1 Dec 2011

Anemia, high blood pressure linked to risk of silent strokes in children with SCD

A team of researchers from the Johns Hopkins Children's Center, Vanderbilt University and elsewhere have demonstrated that high blood pressure and anemia together put children with sickle cell disease (SCD) at serious danger for symptomless or so-called "silent" strokes, although either condition alone also signaled high risk.

30 Nov 2011