Dedicated to the acceptance, medical treatment, & legal protection of individuals in the process of correcting the misalignment of their anatomical sex, & supporting their transition into society.
The Human Genome Project (HGP). The HGP identified all of the genes in the human genome and mapped their individual sequencing. Basic work began in 1990 and reached completion in 2005, sparking continuous refinements and new projects. Though the HGP is finished, data analyses will continue for many years.
A genome is all the DNA in an organism, including its genes and other materials. Genes carry information for making all the proteins required by all organisms. These proteins determine, among other things, how the organism looks, how well its body metabolizes food or fights infection, and to an extent even how it behaves.
DNA is made up of four similar chemicals (called bases and abbreviated A, T, C, and G) that are repeated millions or billions of times throughout a genome. The human genome, for example, has 3 billion pairs of bases. The particular order of As, Ts, Cs, and Gs is extremely important.
The order underlies all of life's diversity, even dictating whether an organism is human or another species such as yeast, rice, or fruit fly, all of which have their own genomes and are themselves the focus of genome projects. Because all organisms are related through similarities in DNA sequences, insights gained from nonhuman genomes often lead to new knowledge about human biology.
Video:An introduction to the ongoing Human Genome Project, courtesy of the US National Institutes of Health NIH) (18 May 2007). Time: 00:03:33. Creative Commons license: Attribution-NonCommercial-NoDerivs.
Springfield, VA, USA. Individuals born with Harry Benjamin Syndrome (HBS) present a unique opportunity for researchers to assess the existence and implications of an interesting and persistent birth condition. In light of previous work on decoding the human genome and the emergent 1000 Genomes Project, study of the HBS population can illuminate the origin of HBS and its treatment, while offering a useful baseline when assessing other medical variations potentially detectable via genomic studies. Examples of further work could include intersex conditions, identical twin studies, and much more.
This summary offers general information on HBS and presents an informal declaration of an interesting study opportunity worthy of consideration.
Background
Harry Benjamin Syndrome (HBS) is a medical condition that develops before birth, resulting in a misalignment between an individual’s innate brain sex and physical anatomy. For example, such a person is neurobiologically female but exhibits male sexual anatomy. The same is true for neurobiological males with female externals.
The HBS designation progressively supersedes the traditional and less precise terminology (such as transsexual or transsexuality).
HBS is a prior condition for those who have successfully corrected their physical anatomy and brought it into alignment with their brain sex. Following transition, such individuals are no longer HBS.
Current Situation
Men and women with a history of HBS are a unique — but virtually unutilized — resource for research studies. Men with HBS histories are unencumbered with long-term exposure to testosterone prior to transition. HBS women do not have menstrual histories and are non-menopausal.
Both HBS men and women exhibit the measurable consequences of hormone therapy (HT) and related medication.
Even though women with a history of HBS have never been through menopause, doctors, endocrinologists and other medical practioners still use traditional practice and deny the appropriate types of estrogen and sufficient dosages to their Male-to-Female (M2F) patients when prescribing hormones.
This practice derives from studies of women who have been prescribed hormone combinations with known deleterious effects and projecting those effects to all estrogen-inclusive regimens.
This is a biased practice based on uninformed presumptions that such patients seek pretense and can not be considered as females and males in their target anatomical configuration. Much of the confusion derives from a failure by practitioners to distinguish between HBS and paraphilia.
HBS Identification
The existence of the post-op HBS-born offers the opportunity for informative baseline comparisons when studying the unique health concerns of all men and women, HBS or not.
Problem. There is no empirical method or established neurobiological markers that accurately identify Harry Benjamin Syndrome (HBS fna transsexuality). Current protocols rely on self-identification and psychological evaluation.
An empirical and replicable method of identification is needed to confirm the HBS diagnosis. Moreover, downsteam studies of certain intersex conditions are hampered by the lack of a suitable baseline for comparison.
Hypothesis. The HBS genome is identifiable and sufficiently distinct to accurately confirm the HBS diagnosis. Current technology and methods offer the opportunity to confirm or disprove the HBS hypothesis.
Method. By making baseline comparisons between the genomes of directly comparable populations, genomic variations can be observed, catalogued, and compared.
Constraints. The study groups should be recruited and managed to minimize the variable effects of both (a) sexual orientation and (b) self-diagnostic anomalies. To that end:
All HBS subjects will be post-operative, with a history of confirmable participation in formal medical protocols prior to their corrective surgery.
Pre-op HBS subjects are excluded from initial studies to severely minimize the possible effects of self-diagnostic bias.
The sexual orientation of all subjects will be confirmably heterosexual to minimize the possible bias of a mixed population.
The sexual orientation of HBS participants will be assessed from the perspective of their sex following corrective surgery.
Participants will be prescreened for other factors that could bias the results. Candidate anomalies can include genetic birth defects, intersex conditions with a known etiology, and documented addiction to ingestable substances (such as drugs and alcohol).
Participants subject to these criteria and excluded from the initial study will be evaluated in follow-up studies to evaluate the possible effects of these anomalies on detection and treatment.
Study Design. The proposed approach consists of, at minimum, the following elements.
The genomes of a subject group of 200 post-operative HBS patients will be examined. The group membership will be evenly distributed between HBS females (male to female) and HBS males (female to male). The results will be examined for their areas of commonality.
The genomes of a subject group of 200 non-HBS heterosexual patients will be examined. The group membership will be evenly distributed between females and males. The results will be examined for their areas of commonality.
The genomes of the HBS females and males will then be compared to the genomes of the non-HBS females and males to identify possible areas of commonality.
Close observations of the subject population will ensure that conditions anomalous to the study protocols will be recorded and assesed for their effects on the results (e.g., newly noted intersex conditions, newly disclosed or recognized sexual orientation, etc.).
Predictions
The genomes of HBS females will most closely resemble the genomes of non-HBS females;
The genomes of HBS males will more closely resemble the genome of non-HBS males;
The genomes of HBS females will more closely resemble the genomes of non-HBS females than the genomes of HBS men;
The genomes of HBS males will more closely resemble the genomes of non-HBS males than the genomes of HBS women.
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Richard Smith, Editor-in-Chief, introduces Cases Journal. Dr. Smith urges all physicians to submit their case reports to the new open access Cases Journal, which publishes case reports from any area of healthcare.
Cases Journal will publish any case report that is understandable, ethical, authentic, and includes all essential information. A more selective companion, the Journal of Medical Case Reports, publishes original and interesting case reports that contribute significantly to medical knowledge. Article submissions are subject to potential publication by either journal. All reports will be entered in a common and open access database.
In light of previous work on decoding the human genome and the emergent 
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