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Sunday, 31 July 2011

Gene patents: pros and cons (again)

There is a recent hot debate again about gene patents after the New York federal Judge Robert Sweet ruled that human gnee isolation is unpatentable. (2010) Seven patents involving genes and genetic diagnostic methods by Myriad Genetics were invalidated. A decade before, the United State Patent and Trademark office argued that gene sequences can be patented and it open the era of BRCA gene for breast cancer genes research and diagnostics in Europe and USA. The decision is under appealed and the European community is still unchanging but who know the future impact of this rule by the US legal system that always have a strong impact in world market.

In US patent law, the subject matter may be patentable if it belongs to one of four classes: a process, a machine, manufacture or composition of matter. It has to be new and non-obvious. In Europe, an isolated gene  from human body or produced by other technical process can be patented even if the structure of that element is identical to that of the natural element. In USA, in 1980, the Supreme court held that a human made, living, genetically modified bacterium, capable of breaking down components of crude oil was patentable. The products had to have markedly different characteristics from a product of nature. According to Judge sweet, the identification of the BRCA genes is unquestionably a valuable scientific achievement for which Myriad deserves recognition,  but that is not the same as concluding that it is something for which they are entitled for a patent. The techniques of purification and isolation of DNA are well-known to those skilled in the art and as a consequence, such claims on isolated DNA constitute unpatentable subject matter.

We will consider about the health care access, scientific research and moral issue of gene patents.
From the patent-pro stand points, patent exclusivity is needed to incentivize invention and innovation. Big pharmaceutical companies have benefited from this principle and claim that drug development and research cost them a lot. It is actually insufficient evident to conclude that patent system is the only effective system to encourage such invention and innovation.

Gene patents can limit the access to the particular gene based therapy, biologic drug and diagnostic modalities. Such restriction can increase patient burden and costs. Ethical and moral against human gene patents go further to human dignity. We are not the same as birds, flies, plants and bacteriu. It seems weird that someone can own the body of knowledge about somepart of the human, in this case, gene sequence and isolation for their own benefits. Although there is some objections of this moral argument, it is still debatable about what can be patented and what should not be patented based on different legal sets, big pharma or scientist, health care providers or people.

Genetics and miscarriage (2)

Genetics and miscarriage. Miscarriage or spontaneous abortion is the problem in nearly about 10% of known pregnancies. The etiologies are normally obscured. Recurrent problems are the nightmares for every families. To uncover the genetics causes of miscarriage might help in family planning and make a good decision among choices of reproduction. This paper is technical, please see the final conclusion about genetic and miscarriage that can get from this paper below.

High-throughput analysis of chromosome abnormality in spontaneous miscarriage using an MLPA subtelomere assay with an ancillary FISH test for polyploidy†


Damien L. Bruno1, Trent Burgess1, Hua Ren1, Sara Nouri1, Mark D. Pertile1, David I. Francis1, Fiona Norris1, Bronwyn K. Kenney1, Jan Schouten2, K.H. Andy Choo1, Howard R. Slater1,*Article first published online: 14 NOV 2006




Chromosome analysis of spontaneous miscarriages is clinically important but is hampered by frequent tissue culture failure and relatively low-resolution analysis. We have investigated replacement of conventional karyotype analysis with a quantitative subtelomere assay performed on uncultured tissue samples, which is based on Multiplex Ligation-Dependent Probe Amplification. This assay is suitable for this purpose as approximately 98% of all observed karyotype abnormalities in spontaneous miscarriages involve copy-number change to one or more subtelomere regions. A pilot study has compared karyotyping and subtelomere analysis on 78 samples. Extensive tissue necrosis accounted for failure of both karyotyping and subtelomere testing in four (5.1%) samples. Excluding these, there were no (0/74) subtelomere test failures compared to 9.5% (7/74) karyotype failures. Twenty-two (30%) whole chromosome aneuploidies and five (6.8%) structural abnormalities were detected using the subtelomere assay. With the exception of three cases of triploidy, all karyotype abnormalities were detected by the subtelomere assay. Following on from this study, a further 100 samples were tested using the subtelomere assay in conjunction with a simple ancillary FISH test using uncultured cells to exclude polyploidy in the event of a normal subtelomere assay result. Except for three necrotic samples, tests results were obtained for all cases revealing 18 abnormalities including one case of triploidy. Taking into consideration the high success rate for the combined MLPA and FISH test results, and the very significant additional advantages of cost-effective, high-throughput batching, and automated, objective analysis, this approach greatly facilitates routine investigation of chromosome abnormalities in spontaneous miscarriage


What does it mean from this paper?

We already knows that genetic play a substantive role in cases of miscarriages. To identify the underlying etiologies of specific family will be necessary for genetic counselling and planning for next pregnancy. This paper show that at the moment, the genetic test is revolutionalized to a very rapid and comprehensive style that can detect the genetic abnormalities and give the results to the patients and families with a satisfied proportion. Conventional methods using long and tedious process of cytogenetics method will be replaced by these techniques. Contact your local medical geneticists and genetic counselers for more information, Do not trust Direct to consumer genetic tests without genetic counselers service!

Friday, 29 July 2011

History of Medical genetics II

The 17th-century English Physician Kenelm Digby noted the presence of the double thumb in a n Algerian Muslim family, a trait that reportedly occured in five generations and was confined to females, although Digby personally observed only mother and daughter.

The earliest definitive example, however, was that published by Pierre Louis de Maupertius (whose more theoretical contributions are noted later). In 1753, he described a German family (the proband was a Berlin surgeon named Ruhe) in whom extra digits were inherited through four generations. Maupertius specifically nored that traits was trasmitted equally by father and mother.

He also estimate that if polydactyly had a frequency of 1 in 20000 in the general population, the likelihood of its appearing by chance in three subsequent generations is 1 in 8 trillion. However, his estimate should not be taken as precise, because his ascertainment of polydactyly undoubtedly depended on the occurence of multiple cases- although, whatever allownace one makes for this, there is still a convincing departure from chance!

History of Medical Genetics I

Before Mendel time (1)

The study of inherited disorders represents the core of medical genetics. It is quite clear, however, that specific observations on inherited disorders and more general thoughts about human inheritance have been at the fore-front of concepts of heredity at the very beginning, and do not represent just an afterthoughts o nlate arrival.

The period of before Mendel is the entire period up to the end of the 19th century, during the latter part of which Mendel's work already existed but remained unknown, and have left a discussion of Mendel's own contribution at the end.

Early family reports of some disorders now recoginzed as following Mendelian Inheritance Patterns

Autosomal dominant
Double Thumb                                  Digby 1645
Polydactyly                                       Maupertius 1753
Progressive blindness                        Martin 1809

Autosomal recessive
Albinism                                           Wafer 1699
Congenital deafness                          WIlde 1853
Congenital cataract                           Adams 1814

X-linked
Color blindness                                Dalton 1798
Hemophilia                                       Otto 1803
Dechenned Muscular Dystrophy       Meryon 1852


Source: A Short History of Medical Genetics: Peter Harper

Genetics training: combined internal medicine/medical genetics

Internal Medicine / Medical Genetics Policies
The American Board of Internal Medicine and the American Board of Medical Genetics offer dual Certification in internal medicine and medical genetics. A combined residency includes a total of five years of coherent training integral to residencies in the two disciplines. The participating residencies must be within a single institution and its affiliated hospitals.

Both Boards encourage residents to extend their training for an additional sixth year in investigative, administrative or academic pursuits in order to prepare graduates of combined training in medial genetics and internal medicine programs for careers in research, teaching or departmental administration.

To meet the eligibility requirements for the Certification processes in internal medicine and medical genetics, the resident must satisfactorily complete 60 months of combined training leading to satisfactory performance in the six competencies that is verified by the director and associate director or the co-directors of these combined training programs.

Please follow the link:
http://www.abim.org/certification/policies/combinedim/commgen.aspx