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.

Scientists effectively combine two methods used as vehicles to carry DNA into cell nuclei

Scientists at Polytechnic Institute of New York University (NYU-Poly) and at the NYU College of Dentistry have discovered a biochemical version of a principle well known among confectioners. Call it the "peanut butter and chocolate" rule: Sometimes two things work better together than alone.

5 Apr 2011

Therapeutic hypothermia is an effective treatment for young adult patients with HCM

Young adult patients with genetic heart diseases, such as hypertrophic cardiomyopathy, substantially benefitted from therapeutic hypothermia, which could further extend the role for this treatment strategy in new patient populations, according to a scientific presentation at the American College of Cardiology Scientific Sessions in New Orleans, April 1-3.

4 Apr 2011

Stanford pediatrics receives Genzyme/ACMG award for biochemical genetic research

Anna-Kaisa Niemi, MD, Ph.D., a resident in Medical Genetics in the Department of Pediatrics, Division of Medical Genetics at the Stanford University Medical Center, in Stanford Calif., was honored as the 2011-2012 recipient of the Genzyme/American College of Medical Genetics Foundation Clinical Genetics Fellowship in Biochemical Genetics at the ACMG 2011 Annual Clinical Genetics Meeting in Vancouver, BC, Canada.

30 Mar 2011

State laws regarding baby blood samples analyzed

State laws and policies governing the storage and use of surplus blood samples taken from newborns as part of the routine health screening process range from explicit to non-existent, leaving many parents ill-informed about how their babies' left over blood might be used, according to a team led by a member of the Johns Hopkins Berman Institute of Bioethics, in collaboration with researchers from the University of Utah. A report on their analysis of the subject is published March 28 in the journal Pediatrics.

28 Mar 2011

Xenon founder receives Canada Wightman Award for leadership in medical science

Dr. Michael Hayden, a Xenon founder and Chief Scientific Officer, has received the Canada Gairdner Wightman Award for leadership in medical science in Canada.

23 Mar 2011

ViroPharma presents Cinryze data against HAE at AAAAI Annual Meeting

ViroPharma Incorporated today announced data presented in two poster presentations relating to Cinryze at the 2011 American Academy of Allergy Asthma & Immunology Annual Meeting, March 18 through 22, in San Francisco, CA.

23 Mar 2011

ViroPharma launches online community for teens and adults with hereditary angioedema

ViroPharma Incorporated today announced the launch of "HAE and Me," an online community that unites teens and adults with hereditary angioedema (HAE) through shared experiences to help them better manage their disease.

21 Mar 2011

Tiny Locked Nucleic Acid-based compounds inhibit entire disease-associated microRNA families

A study published online in this week's Nature Genetics demonstrates that tiny Locked Nucleic Acid (LNA)-based compounds developed by Santaris Pharma A/S can inhibit entire disease-associated microRNA families. This provides a potential new approach for treating a variety of diseases including cancer, viral infections, cardiovascular and muscle diseases.

21 Mar 2011

CHMP recommends approval of Centralized Marketing Authorization for Cinryze

ViroPharma Incorporated today announced that the Committee for Medicinal Products for Human Use of the European Medicines Agency has adopted a positive opinion at its plenary meeting in March 2011 recommending approval of a Centralized Marketing Authorization for Cinryze (C1 inhibitor [human]) in adults and adolescents with hereditary angioedema for routine prevention, pre-procedure prevention and acute treatment of angioedema attacks.

19 Mar 2011

New insight into Duchenne muscular dystrophy

Armed with a zebrafish model of Duchenne muscular dystrophy and a library of 1,200 chemicals already approved for human use, researchers at Children's Hospital Boston have identified a compound that reverses the loss of muscle structure and function associated with DMD, seemingly by compensating for the loss of a critical protein.

19 Mar 2011

RainDance Technologies launches ASDSeq and XSeq Research Screening Panels

RainDance Technologies, Inc., today announced the commercial availability of the ASDSeq™ and XSeq™ Research Screening Panels. Developed in collaboration with Emory University and Greenwood Genetic Center, the two comprehensive panels enable researchers to simultaneously interrogate key genes known to be linked to X-chromosome disorders and syndromic forms of Autism Spectrum Disorder (ASD) using next-generation sequencing.

18 Mar 2011

Parkinson's disease medication turns on critical gene, protects brain cells

In a major breakthrough in the battle against Parkinson's disease, researchers at the University of Colorado School of Medicine have discovered a drug that stops the progression of the degenerative illness in mice and is now being tested in humans.

9 Mar 2011

Experts to discuss cause of sudden death on athletic playing fields

While the cause of death of the Fennville, Mich. high school basketball player is unknown, an inherited heart condition makes the top of the list for possible causes.

5 Mar 2011

Worldwide collaborative project to improve newborn screening accuracy for metabolic disorders

A unique worldwide collaborative project takes advantage of the Internet to improve the accuracy of screening for rare metabolic disorders in newborns, reports a paper in the March issue of Genetics in Medicine, the official peer-reviewed journal of The American College of Medical Genetics.

4 Mar 2011

Researchers discover three genes that contribute to abnormal growth

By working with Canadians of French ancestry who suffer a rare genetic disease, researchers have discovered how three genes contribute to abnormal growth, making a breakthrough that will improve our understanding of many disorders such as foetal and childhood growth retardation, abnormal development of body parts and cancer.

2 Mar 2011

Alexion joins EURORDIS, NORD and medical communities to observe Rare Disease Day 2011

Alexion Pharmaceuticals, Inc. joins the European Organization for Rare Diseases, the National Organization for Rare Disorders and families, governments, companies and medical communities around the world in observing the fourth annual Rare Disease Day today.

28 Feb 2011

Pharming, Santarus receive FDA refusal to file letter for RHUCIN BLA

Specialty biopharmaceutical company Santarus, Inc.and biotech company Pharming Group NV today announced the receipt of a "refusal to file" letter from the U.S. Food and Drug Administration for the RHUCIN Biologics License Application submitted by Pharming.

28 Feb 2011

Talent Plus, Centric Health Resources partner to provide patient-centered quality services

Centric Health Resources, Inc., a nationwide, Patient-Centered Health Management organization and specialty pharmacy, dedicated to improving the quality of life for people with orphan, ultra-orphan, and chronic genetic disorders, has partnered with Talent Plus, a global human resources consulting firm committed to building high-performing, talent-based organizations.

24 Feb 2011

New study suggests variation in PCLO gene can contribute to risk of bipolar disorder

Understanding the genetics of bipolar disorder could lead to new treatments, but identifying specific genetic variations associated with this disorder has been challenging.