Doctor insights on:
Genes And Gene Therapy Williams Syndrome
Williams Syndrome: There is no known therapy for this genetic disease ...Read more
From a medical standpoint, "genetic" refers to the potential heritability of various medical conditions. While some conditions are inevitable (at some point in one's life) as a consequence of simple genetic heritability (eg huntington's disease), a large number of medical conditions (including all behaviorial health disorders) are the expressed final pathway of a ...Read more
Could gene therapy or transcranial Direct Current Stimulation (tDCS) or any other method help a patient with Williams syndrome?
Unlikely: There are no gene therapies I know of for this condition. I have also not seen any research on tDCS use for this condition (mostly depression, parkinson's, gen. anxiety) but very small studies only. I did review Johns Hopkins Psychiatry and Behavioral Science website as they do some of this research. It is very limited and no mention of treatment of Williams syndrome. I am sorry. ...Read more
No: Someone with Down syndrome has an entire extra chromosome 21, this is incorporated into every single cell in the entire body, and causes creation of abnormal cell proteins and function. You cannot just pull out an entire chromosome - we are nowhere near that type of genetic therapy yet. Focus instead on what wonderful, full-loving people those with that extra chromosome are and enjoy them! ...Read more
Is there any cure for hurler syndrome? And if there is then please tell me which doctor should I meet? And please tell me about gene therapy?
No: The is no cure for hurler syndrome, but some specialized medical centers are trying enzyme replacement and/or bone marrow transplantation therapy. One can search the web for medical centers involved in hurler syndrome treatment, and can start by looking at: http://marrow. Org/patient/disease_and_treatment/about_your_disease/metabolic_disorders/hurler_s_syndrome. Aspx. ...Read more
Yes: Cell therapy generally involves stem or pluripotent cells that have the potential, under the right triggers, to grow into many different types of cells. These cells are then transplanted to an area of disease. Gene therapy generally involves replacing small dysfunctional segments of dna. Dna is present in almost every cell in our body and is the instruction manual that tells the cell what to do. ...Read more
It won't: At 37 years of age, nothing can make you grow taller. ...Read more
Pcr-FISH-karyotype: There are 3 main types of genetic tests. The old standard is to take a blood sample from the hip (marrow) and grow cells to look at all the chromosomes (karyotype). It is a 'broad strokes' look but not as sensitive as the others. A fish test looks at blood cells with 'probes' to the known genetic changes (moderately sensitive) and a PCR test is a 'molecular' test of the dna (very sensitive). ...Read more
Can you tell me in gene therapy how do we make sure of the site of insertion in the genome of the gene of interest?
By replacing defect: Gene therapy is the use of genes for therapeutic effect. The original studies with gene therapy were for corrective gene therapy. To illustrate, patients with severe combined immunodefeciency were born with a mutation in the ada gene. The original gene therapy trial, engineered a virus that was used to infect bone marrow of children with this disorder. The normal gene corrected the disorder. ...Read more
Info: Here is some comprehensive information about gene therapy. Http://ghr. Nlm. Nih. Gov/handbook/therapy. Pdf ...Read more
Gene therapy for HIV: Gene therapy for HIV could be coming. A company called sangamo pharm. Has developed a gene modification tool called a zinc-finger endonuclease that can alter on of the lymphocyte genes that allows HIV to enter the cells; called a chemokine receptor. They are involved in clinical studies at this time that look promising. ...Read more
They work!: For gene therapy to work, material must be transported into cells, such as new genes to insert, or proteins that cleave (break apart) chains or delete genes. Since viruses are capable of entering cells (that is how they infect them) and are able to integrate their own genes into the dna inside the cell, they can be effective in gene therapy. But the virus must be or be made harmless first. ...Read more
Not yet: To date I have not heard of gene therapy applicable to mitochondrial disorders. ...Read more
Check this site: Not sure, but www. Clinicaltrials. Gov has information on any studies that would be looking into this. Look at this link: http://clinicaltrials. Gov/ct2/results? Term=calve+disease (i just put in calve disease as a search term, to get broader results). Good luck! ...Read more
Neurodevelopmental disorder characterized by loquacious personality, abnormally sensitive hearing, supravalvular aortic stenosis, mental retardation, elfin facies, association with hypercalcemia due to abnormal sensitivity to vitamin d, idiopathic hypercalcemia of pregnancy. Due to deletion in elastin gene and probably several ...Read more