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.

CHOP implements InforSense-based Translational Research Solution to study complex genetic disease

IDBS, the leading worldwide provider of research data management and analytics solutions to R&D organizations, today announced that The Children's Hospital of Philadelphia (CHOP), one of the leading pediatric hospitals and research facilities in the world, has implemented the InforSense-based Translational Research Solution to advance the understanding of complex genetic disease.

22 Oct 2009

New technique to treat metabolic disorders in babies while still in the womb

Researchers say a new development in cord blood transplants for inherited metabolic disorders may be curative for some babies who are treated while still in the womb.

20 Oct 2009

AstraZeneca's CRESTOR approved for treating pediatric patients with HeFH

AstraZeneca today announced the U.S. Food and Drug Administration (FDA) approved CRESTOR® (rosuvastatin calcium) for use in pediatric patients ages 10-17 with heterozygous familial hypercholesterolemia (HeFH) when diet therapy fails to reduce elevated cholesterol. HeFH, a genetic disease, is characterized by high LDL cholesterol (the "bad" cholesterol) and increased risk of early cardiovascular disease.

19 Oct 2009

DKC establishes link between genetic mutation affecting telomerase function and human disease

The human genetic disease dyskeratosis congenita (DKC) is an autosomal dominant disease that leads to abnormalities in tissues with a rapid cell turnover - the skin, nails, bone marrow, lungs and gut. Patients with DKC experience life-threatening symptoms. Bone marrow failure increases their risk of fatal infections and cancer. Many die before the age of 30 and management of the disease is limited to trying to treat its symptoms.

19 Oct 2009

Multi-million dollar cooperative agreement for SMA drug development program

Paratek Pharmaceuticals (Boston, MA) and Families of Spinal Muscular Atrophy (Elk Grove Village, IL) announced today that a jointly funded drug development program for Spinal Muscular Atrophy (SMA) has been awarded a multi-million dollar cooperative agreement from the National Institute of Neurological Disorders and Stroke (NINDS).

19 Oct 2009

FDA approves ZyStor Therapeutics' ZC-701 for Phase I human safety trial

ZyStor Therapeutics, Inc., a biotechnology company developing a new class of targeted protein therapeutics for the treatment of Lysosomal Storage Diseases using the Company's proprietary Glycosylation Independent Lysosomal Targeting technology, today announced that it has received clearance from the U. S. Food and Drug Administration to proceed into a clinical trial for its first drug candidate, ZC-701, an enzyme replacement therapy for the treatment of Pompe disease.

14 Oct 2009

Centric Health Resources launches unique marketing campaign to reach out to patients

With an ongoing dedication to improving the quality of life for people nationwide with rare, orphan, and ultra-orphan, chronic genetic disorders, Centric Health Resources, Inc. (www.centrichealthresources.com) announces the launch of its ground-breaking, direct response marketing campaign, which utilizes MP3 players loaded with informative podcasts about Centric’s patient-centered approach to all phases of its specialty drug programs.

14 Oct 2009

FDA grants marketing approval for CSL Behring's Berinert C1-Esterase Inhibitor

CSL Behring announced today that the U.S. Food and Drug Administration (FDA) has granted marketing approval for Berinert® C1-Esterase Inhibitor, Human for the treatment of acute abdominal or facial attacks of hereditary angioedema (HAE), a rare and serious genetic disorder, in adult and adolescent patients. Berinert is the first and only therapy approved for this indication in the U.S.

12 Oct 2009

OptumHealth’s conference to focus on advancements in fetal diagnosis and treatment

OptumHealth Inc. has teamed with The Children’s Hospital of Philadelphia (CHOP) to present a two-day educational conference focused on clinical advancements in fetal diagnosis and treatment, neonatal care and pediatric care. The gathering runs through today, and is part of OptumHealth’s Network Spotlight Conferences program.

12 Oct 2009

FDA approves Berinert for the treatment of hereditary angioedema

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).

12 Oct 2009

New findings on genetic disorder may lead to better treatment of inflammatory bowel disease

New findings related to an uncommon genetic disorder may impact the diagnosis and treatment of inflammatory bowel disease (IBD), the most common chronic gastrointestinal illness in children and teens.

9 Oct 2009

NIH grants over $3.8 million to Asuragen

Asuragen, Inc. announced today that it has received over $3.8 million in new grant funding for 2009 from the Small Business Innovative Research (SBIR), Small Business Technology Transfer (STTR), and American Recovery and Reinvestment Act (ARRA) funded initiatives of the National Institutes of Health (NIH) to further its development of molecular diagnostics for oncology and genetic disease.

8 Oct 2009

FDA approves Daiichi Sankyo's sNDA for Welchol

Daiichi Sankyo, Inc. (DSI) announced today that the U.S. Food and Drug Administration (FDA) has approved the supplemental new drug application (sNDA) for Welchol® (colesevelam HCl) to be used as an adjunct to diet and exercise for the reduction of elevated low-density lipoprotein cholesterol (LDL-C) in boys and postmenarchal girls, 10 to 17 years of age, with heterozygous familial hypercholesterolemia (heFH) alone or in combination with a statin after failing an adequate trial of diet therapy.

7 Oct 2009

Call for new policies on access to biobanked children's DNA

Scientists look for clues about therapies and cures for life-threatening childhood illnesses in children's DNA -- it seems only logical to do so. But the decision as to who should have access to DNA samples from children provides a unique ethical conundrum, says a Tel Aviv University researcher in a recent publication for the esteemed journal Science, co-authored by colleagues from The Netherlands and Canada.

7 Oct 2009

Autistic patients have underlying medical disorders that are amenable to treatment

The National Children's Health Survey published results from a 2007 telephone survey in Pediatrics today in which 78,000 households in the US were asked if their child (ages 2-17) was known to "currently have autism, Asperger's Disorder, pervasive development disorder, or other autism spectrum disorder." The survey showed that 1% of children (one in 100) now have the disorder. Previous estimates from the CDC had reported a prevalence rate of one in 150.

5 Oct 2009

Registry to help patients in need of bone marrow transplants

Nearly 70 percent of patients needing a marrow transplant do not have a matching donor in their family, leaving minorities particularly vulnerable to finding a donor who can provide a perfect match of common tissue types, according to Be the Match®, a movement that engages the public to help patients in need of bone marrow or umbilical cord blood transplants.

5 Oct 2009

Angelman Syndrome Foundation increases grant award for 2009 for AS research

The Angelman Syndrome Foundation further solidified its dedication to research by increasing its grant award total to more than $1 million for 2009. Most recently, more than $988,000 in grants was awarded to six principle investigators, focusing on Angelman Syndrome (AS) research.

3 Oct 2009

Doris Duke Innovations award for sickle cell disease research

Sangamo BioSciences, Inc. announced today that research led by Donald B. Kohn, M.D., Professor of Microbiology, Immunology and Molecular Genetics (MIMG) and Pediatrics, the Director of the UCLA Human Gene Medicine Program and member of the Broad Stem Cell Research Center, and Philip Gregory, D. Phil., Sangamo's chief scientific officer and vice president, research, has been selected to receive a $486,000 Doris Duke Innovations in Clinical Research Award from the Doris Duke Charitable Foundation.

1 Oct 2009

Raptor Pharmaceutical appoints Llew Keltner to its board of directors

Raptor Pharmaceutical Corp. ("Raptor" or the "Company") (Nasdaq: RPTPD), today announced the appointment of Llew Keltner, M.D., Ph.D., to the Company's board of directors. Dr. Keltner is currently CEO and President of Light Sciences Oncology, a privately-held biotechnology company developing a late-stage, light-activated therapy for hepatocellular cancer and other solid tumors.

1 Oct 2009

UCLA discovery raises hope for curing genetic disorders caused by nonsense mutations

UCLA scientists have identified two chemicals that convince cells to ignore premature signals to stop producing important proteins. Published in the Sept. 28 edition of the Journal of Experimental Medicine, the findings could lead to new medications for genetic diseases, such as cancer and muscular dystrophy, that are sparked by missing proteins.

29 Sep 2009