DNA-based Gene Diagnostics

Attached below find a list of all available DNA based Gene Tests:
Th elist appears to be quite extensive. Some of these conditions in fact can be addressed or treated with the replacement of a single gene:
This information along with current clinical trials can also be found at the National Institute of Health Web site.

Currently Available DNA-Based Gene Tests
• Alpha-1-antitrypsin deficiency (AAT; emphysema and liver disease)
• Amyotrophic lateral sclerosis (ALS; Lou Gehrig's Disease; progressive motor function loss leading to paralysis and death)
• Alzheimer's disease* (APOE; late-onset variety of senile dementia)
• Ataxia telangiectasia (AT; progressive brain disorder resulting in loss of muscle control and cancers)
• Gaucher disease (GD; enlarged liver and spleen, bone degeneration)
• Inherited breast and ovarian cancer* (BRCA 1 and 2; early-onset tumors of breasts and ovaries)
• Hereditary nonpolyposis colon cancer* (CA; early-onset tumors of colon and sometimes other organs)
• Central Core Disease (CCD; mild to severe muscle weakness)
• Charcot-Marie-Tooth (CMT; loss of feeling in ends of limbs)
• Congenital adrenal hyperplasia (CAH; hormone deficiency; ambiguous genitalia and male pseudohermaphroditism)
• Cystic fibrosis (CF; disease of lung and pancreas resulting in thick mucous accumulations and chronic infections)
• Duchenne muscular dystrophy/Becker muscular dystrophy (DMD; severe to mild muscle wasting, deterioration, weakness)
• Dystonia (DYT; muscle rigidity, repetitive twisting movements)
• Emanuel Syndrome (severe mental retardation, abnormal development of the head, heart and kidney problems)
• Fanconi anemia, group C (FA; anemia, leukemia, skeletal deformities)
• Factor V-Leiden (FVL; blood-clotting disorder)
• Fragile X syndrome (FRAX; leading cause of inherited mental retardation)
• Galactosemia (GALT; metabolic disorder affects ability to metabolize galactose)
• Hemophilia A and B (HEMA and HEMB; bleeding disorders)
• Hereditary Hemochromatosis (HFE; excess iron storage disorder)
• Huntington's disease (HD; usually midlife onset; progressive, lethal, degenerative neurological disease)
• Marfan Syndrome (FBN1; connective tissue disorder; tissues of ligaments, blood vessel walls, cartilage, heart valves and other structures abnormally weak)
• Mucopolysaccharidosis (MPS; deficiency of enzymes needed to break down long chain sugars called glycosaminoglycans; corneal clouding, joint stiffness, heart disease, mental retardation)
• Myotonic dystrophy (MD; progressive muscle weakness; most common form of adult muscular dystrophy)
• Neurofibromatosis type 1 (NF1; multiple benign nervous system tumors that can be disfiguring; cancers)
• Phenylketonuria (PKU; progressive mental retardation due to missing enzyme; correctable by diet)
• Polycystic Kidney Disease (PKD1, PKD2; cysts in the kidneys and other organs)
• Adult Polycystic Kidney Disease (APKD; kidney failure and liver disease)
• Prader Willi/Angelman syndromes (PW/A; decreased motor skills, cognitive impairment, early death)
• Sickle cell disease (SS; blood cell disorder; chronic pain and infections)
• Spinocerebellar ataxia, type 1 (SCA1; involuntary muscle movements, reflex disorders, explosive speech)
• Spinal muscular atrophy (SMA; severe, usually lethal progressive muscle-wasting disorder in children)
• Tay-Sachs Disease (TS; fatal neurological disease of early childhood; seizures, paralysis)
• Thalassemias (THAL; anemias - reduced red blood cell levels)
• Timothy Syndrome (CACNA1C; characterized by severe cardiac arrhythmia, webbing of the fingers and toes called syndactyly, autism)

Modified Autologous Skin Fibroblast

The following paper is quite interesting since for the first time it provides proof of concept data suggesting that skin derived fibroblasts could potentially be differentiated into osteogenic lineage!


Gene Therapy (2008) 15, 1330–1343; doi:10.1038/gt.2008.116; published online 17 July 2008

Ex vivo-transduced autologous skin fibroblasts expressing human Lim mineralization protein-3 efficiently form new bone in animal models
W Lattanzi1, C Parrilla2, A Fetoni2, G Logroscino3, G Straface4, G Pecorini4, E Stigliano5, A Tampieri6, R Bedini7, R Pecci7, F Michetti1,8, A Gambotto9, P D Robbins9 and E Pola3

1Department of Anatomy and Cell Biology, Università Cattolica del Sacro Cuore School of Medicine, Rome, Italy
2Department of Otolaryngology, Università Cattolica del Sacro Cuore School of Medicine, Rome, Italy
3Department of Orthopaedics, Università Cattolica del Sacro Cuore School of Medicine, Rome, Italy
4Department of Internal Medicine, Università Cattolica del Sacro Cuore School of Medicine, Rome, Italy
5Department of Pathology, Università Cattolica del Sacro Cuore School of Medicine, Rome, Italy
6Department of Science and Technology for Ceramics ISTEC-CNR National Council of Research, Faenza, Italy
7Technology and Health Department, Istituto Superiore di Sanità, Rome, Italy
8Latium Musculoskeletal Tissue Bank, Rome, Italy
9Department of Molecular Genetics and Biochemistry, School of Medicine, University of Pittsburgh, Pittsburgh, PA, USA
Correspondence: Professor E Pola, Department of Orthopaedics and Traumatology, Università Cattolica del Sacro Cuore School of Medicine, L.go A. Gemelli, 8, Rome 168, Italy. E-mail: enrico.pola@rm.unicatt.it

Received 28 September 2007; Revised 6 June 2008; Accepted 8 June 2008; Published online 17 July 2008.

Abstract
Local gene transfer of the human Lim mineralization protein (LMP), a novel intracellular positive regulator of the osteoblast differentiation program, can induce efficient bone formation in rodents. To develop a clinically relevant gene therapy approach to facilitate bone healing, we have used primary dermal fibroblasts transduced ex vivo with Ad.LMP-3 and seeded on a hydroxyapatite/collagen matrix prior to autologous implantation. Here, we demonstrate that genetically modified autologous dermal fibroblasts expressing Ad.LMP-3 are able to induce ectopic bone formation following implantation of the matrix into mouse triceps and paravertebral muscles. Moreover, implantation of the Ad.LMP-3-modified dermal fibroblasts into a rat mandibular bone critical size defect model results in efficient healing, as determined by X-rays, histology and three-dimensional microcomputed tomography (3DCT). These results demonstrate the effectiveness of the non-secreted intracellular osteogenic factor LMP-3 in inducing bone formation in vivo. Moreover, the utilization of autologous dermal fibroblasts implanted on a biomaterial represents a promising approach for possible future clinical applications aimed at inducing new bone formation.

BioBank

Biobanking of cell derived from living and consenting donors creates a tremendous opportunity for improved diagnostics and therapies. For more information please refer to the following article:

2008: Day John G; Stacey Glyn N Biobanking. Molecular biotechnology 2008;40(2):202-13.