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 to develop a treatment for rare genetic disorder, FOP

An international team of scientists, led by researchers at the University of Pennsylvania School of Medicine, is taking the first step in developing a treatment for a rare genetic disorder called fibrodysplasia ossificans progressiva (FOP), in which the body's skeletal muscles and soft connective tissue turns to bone, immobilizing patients over a lifetime with a second skeleton.

13 Nov 2009

Update on Alnylam Pharmaceuticals' RNAi pipeline, platform, and technology

Alnylam Pharmaceuticals, Inc., a leading RNAi therapeutics company, is providing an update on its RNAi pipeline, platform, and technology at its R&D Day being held in New York today.

12 Nov 2009

Co-founders of Signature Genomics recognized with Inland Northwest Catalyst Award

Signature Genomics, which performs diagnostic genetic testing of chromosome abnormalities in individuals with unexplained mental retardation and/or birth defects, today announced company co-founders Dr. Lisa G. Shaffer, Ph.D., and Dr. Bassem A. Bejjani, M.D. have received the 2009 Inland Northwest Catalyst Award for Innovators of the Year.

12 Nov 2009

Study suggests a new improved treatment option for children with Hurler's syndrome

Researchers have transplanted genetically modified hematopoietic stem cells into mice so that their developing red blood cells produce a critical lysosomal enzyme - preventing or reducing organ and central nervous system damage from the often-fatal genetic disorder Hurler's syndrome.

10 Nov 2009

TessArae introduces new integrated product solutions for testing human genetic disease

TessArae® LLC, a global leader in resequencing microarray-based applications, announces the launch of new integrated product solutions for genetic testing of the mutations that underlie human hereditary diseases. The combination of TessArae's expertise in microarray-based resequencing with novel nucleotide sequence basecalling algorithms and analysis software enables screening for all targeted mutations in multiple genes of a syndrome or disorder simultaneously.

10 Nov 2009

HAE patients have prodromal symptoms that signal an oncoming HAE attack, reports survey

Most patients with hereditary angioedema (HAE) have prodromal symptoms that signal an oncoming HAE attack giving the patients sufficient time to initiate treatment and decrease the morbidity associated with that attack, according to survey findings presented today at the 2009 American College of Allergy, Asthma & Immunology (ACAAI) Annual Meeting.

9 Nov 2009

C1-INH concentrate, an effective therapy to treat acute swelling attacks for HAE

Patients reported C1-esterase inhibitor (C1-INH) concentrate is an effective therapy in treating acute swelling attacks at any body location for HAE, a rare and serious genetic disorder, according to data presented today at the 2009 American College of Allergy, Asthma & Immunology (ACAAI) Annual Meeting.

9 Nov 2009

Gonorrhea medication may help fight cancer

Drugs sometimes have beneficial side effects. A glaucoma treatment causes luscious eyelashes. A blood pressure drug also aids those with a rare genetic disease. The newest surprise discovered by researchers at the Johns Hopkins University School of Medicine is a gonorrhea medication that might help battle cancer.

6 Nov 2009

Scientists differentiate human embryonic stem cells into lung epithelial tissue using air-liquid interface

Scientists in Belgium have successfully differentiated human embryonic stem cells (hESC) into major cell types of lung epithelial tissue using a convenient air-liquid interface.

5 Nov 2009

Enobia Pharma initiates study of bone-targeted enzyme replacement therapy for hypophosphatasia

Enobia Pharma announced today the initiation of a Phase 2 clinical study of ENB-0040, a bone-targeted enzyme replacement therapy, under investigation for the treatment of hypophosphatasia (HPP). The six-month study will assess the safety, efficacy and pharmacokinetics of ENB-0040 in up to 12 children with HPP.

4 Nov 2009

ACC's initiative for health care reform

As lawmakers debate health care reform, business innovator Lou Weisbach and Clinton White House health care advisor Dr. Richard Boxer are available for interviews to discuss a glaring, missing element of the forthcoming health care legislation: reducing health care costs -- and saving lives -- by preventing and curing disease.

27 Oct 2009

FDA approves Berinert for adults and adolescents with HAE

The U.S. Food and Drug Administration today approved Berinert, the first treatment for acute abdominal attacks and facial swelling associated with a rare and potentially life-threatening genetic disease called hereditary angioedema (HAE).

27 Oct 2009

Phase 2a clinical trial in nonsense mutation hemophilia A and hemophilia B initiated

PTC Therapeutics, Inc. (PTC) today announced it is expanding the development of ataluren, an investigational new drug, to a third indication with the initiation of a Phase 2a clinical trial in nonsense mutation hemophilia A (nmHA) and hemophilia B (nmHB).

26 Oct 2009

Novel protein responsible for changing DNA structure and silencing the expression of genes identified

A study published recently in the Proceedings of the National Academy of Science (PNAS) by a team of scientists headed by Professors Hélène Bierne and Pascale Cossart from the Pasteur Institute, in collaboration with colleagues form the CNRS and the French Agricultural Research Institute (INRA), identified a novel protein, BAHD1, which is responsible for changing DNA structure and silencing the expression of genes.

26 Oct 2009

Gene therapy may help improve congenital blindness in children

Born with a retinal disease that made him legally blind, and would eventually leave him totally sightless, the nine-year-old boy used to sit in the back of the classroom, relying on the large print on an electronic screen and assisted by teacher aides. Now, after a single injection of genes that produce light-sensitive pigments in the back of his eye, he sits in front with classmates and participates in class without extra help. In the playground, he joins his classmates in playing his first game of softball.

26 Oct 2009

Rare form of testicular tumour provides new insight into how genetic changes arise in children

A rare form of testicular tumour has provided scientists with new insights into how genetic changes (mutations) arise in our children. The research, funded by the Wellcome Trust and the Danish Cancer Society, could explain why certain diseases are more common in the children of older fathers.

26 Oct 2009

Modified NAGA: New enzyme for enzyme replacement therapy

A new study uses a creative structure-based remodeling strategy to design a therapeutic protein that exhibits significant advantages over currently available treatments for a rare disease that often leads to cardiac and renal failure. The research, published by Cell Press on October 22nd in the American Journal of Human Genetics, describes a new and highly promising candidate for enzyme replacement therapy (ERT) for Fabry disease.

23 Oct 2009

New guidelines from American Academy of Dermatology for treatment of psoriasis with ultraviolet light therapy

Based on an extensive review of the highest quality scientific literature on psoriasis and the opinion of recognized psoriasis experts, the American Academy of Dermatology (Academy) has released new guidelines of care for the management and treatment of psoriasis with ultraviolet (UV) light therapy, also known as phototherapy. Recommendations for the use of the most common forms of UV light therapy, as stand-alone treatments or in conjunction with other therapies, were outlined, including patient considerations.

23 Oct 2009

Applied Biosystems announces the global availability of its 3500 Series Genetic Analyzer

Applied Biosystems, part of Life Technologies Corporation, today announced the global commercial availability of a new capillary electrophoresis (CE) sequencing system. The 3500 Series Genetic Analyzer builds on Applied Biosystems’ industry-leading CE sequencing systems, with state-of-the-art advancements, setting significant new standards for throughput, data quality and ease of use.

22 Oct 2009

Progenika to provide blood group genotyping reference laboratory services to ARUP

Progenika, Inc. today announced that it has entered into an agreement with ARUP Laboratories (ARUP) of Salt Lake City, UT, to provide blood group genotyping reference laboratory services to ARUP to determine patient red blood cell antigen profiles when serology has logistic and functional limitations.

22 Oct 2009

Genetic Disorder News and Research

Further Reading

Scientists to develop a treatment for rare genetic disorder, FOP

Update on Alnylam Pharmaceuticals' RNAi pipeline, platform, and technology

Co-founders of Signature Genomics recognized with Inland Northwest Catalyst Award

Study suggests a new improved treatment option for children with Hurler's syndrome

TessArae introduces new integrated product solutions for testing human genetic disease

HAE patients have prodromal symptoms that signal an oncoming HAE attack, reports survey

C1-INH concentrate, an effective therapy to treat acute swelling attacks for HAE

Gonorrhea medication may help fight cancer

Scientists differentiate human embryonic stem cells into lung epithelial tissue using air-liquid interface

Enobia Pharma initiates study of bone-targeted enzyme replacement therapy for hypophosphatasia

ACC's initiative for health care reform

FDA approves Berinert for adults and adolescents with HAE

Phase 2a clinical trial in nonsense mutation hemophilia A and hemophilia B initiated

Novel protein responsible for changing DNA structure and silencing the expression of genes identified

Gene therapy may help improve congenital blindness in children

Rare form of testicular tumour provides new insight into how genetic changes arise in children

Modified NAGA: New enzyme for enzyme replacement therapy

New guidelines from American Academy of Dermatology for treatment of psoriasis with ultraviolet light therapy

Applied Biosystems announces the global availability of its 3500 Series Genetic Analyzer

Progenika to provide blood group genotyping reference laboratory services to ARUP

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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