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SCIENTIFIC CONFERENCE POSTER. A human genetic disorder-Huntington’s Disease

SUMMARY OF THIS TASK In brief, you will:
Research a genetic disorder that is inherited largely via Mendelian genetics, make a scientific conference poster and participate in a conference poster session.

Background.
A scientific conference is a forum where researchers present and share the results of their recent work. This work may already have been published, or it may consist of preliminary results that are open for discussion with other researchers. Scientists may choose to present their work in the form of short lectures, or in the form of a poster. Conferences breed new ideas, contribute to solving scientific problems, and can result in international or local collaborations. Conferences can build networks.

A poster session may contain hundreds of posters. In a poster session, researchers usually stand or sit near the poster that describes their research, and other scientists approach, examine the poster, and discuss the work. Poster sessions are usually highly social and relaxed events, in contrast to the more formal lecture presentations. In recent years, many conferences have taken place in an online forum.

The ABSTRACT of both poster and lecture presentations is submitted to the conference organisers at an earlier stage. In a large conference it is not possible to attend all the sessions, and so the abstracts are published so that conference participants can scan and assimilate the research, and select the sessions most relevant to their own interests. Clearly, the Abstract is very important because in it, the researchers try to catch the attention and interest of other scientists. You will include your Abstract in the Abstract box on the poster template.

An ABSTRACT is a short summary (usually about 100 to 200 words in length) that summarises all the sections in the poster. Thus, the ABSTRACT describes, in a paragraph, the parts of the poster that will be explained in greater detail through the body of the poster.

POSTER TEMPLATES are available that make it easy to lay out your poster in the accepted format. You have been supplied with a conference template that is commonly used by scientists attending conferences. These poster sections closely resemble the layout of a scientific paper, consisting of an Introduction, a Methods section, a Results section, and a Conclusion. A poster normally includes illustrations, graphs and/or Tables of data.

MAKE YOUR POSTER USING THE TEMPLATE SUPPLIED ON vUWS.
(a)ABSTRACT: A brief summary of the main points covered in the poster.

(b) INTRODUCTION: The nature of the research and the reason why it was done (e.g. “Huntington’s Disease is a devastating illness whose genetic cause has only recently been understood……..etc”)

(c) The METHODS used to understand the disease (e.g. “Huntington’s Disease is due to CAG repeats that cause an important neural protein to misfold….it is detected by [briefly describe the method of genetic testing employed]. The mutation has been localised on (which) chromosome….

(d) RESULTS: What was found in this study, using the methods described (e.g. “In a family group susceptible to Huntington’s Disease, members were found who had 40, 50 and 60 CAG repeats…..etc)

(e) CONCLUSION: What has this research shown What is the way forward

1. ORGANISATION OF THE POSTER

Your poster can be organised as follows:
Abstract: Summary of your research

Introduction: THE GENETIC DISORDER
History of the disorder
Explanation of its chromosomal or other genetic abnormality.
Description of the condition displayed by affected individual.
Famous individuals (if any) who have suffered from the disease.
Description of limitations to lifestyle.
Life expectancy.
Occurrence of the disorder
Is it age, race or gender related

Methods: GENETIC TESTING
Explain in detail the technology involved in any genetic tests for this disease.
Explain any medical treatment (or other treatment) that is available
Management of condition in affected individuals

Results:
How effective are genetic tests How do they lead to management of the condition in affected individuals (if they do)
Name some benefits of genetic testing
Name some limitations of genetic testing
Explain the ethical issues of such genetic testing

CONCLUSION: POINT THE WAY FORWARD
Briefly summarise the above information.
EVALUATE it (e.g. “Although the genetic cause of ……….disease is known, testing for this disease may create more ethical problems than it solves, for there is as yet no known cure….”).
Point the way forward (e.g. “However, future research along the lines described in the poster gives hope that a cure may be found in the next decade…..).
1. 海报的组织

您的海报可以按如下方式组织：
摘要：您的研究摘要

简介：遗传性疾病
疾病史
对其染色体或其他遗传异常的解释。
受影响个人表现出的状况的描述。
患有该疾病的名人（如果有）。
生活方式限制的描述。
预期寿命。
疾病的发生
与年龄、种族或性别有关吗

方法：基因检测
详细解释这种疾病的任何基因测试所涉及的技术。
解释任何可用的医疗（或其他治疗）
受影响个体的病情管理

结果：
基因测试有多有效 它们如何导致受影响个体的病情管理（如果有的话）
列举基因检测的一些好处
列出基因检测的一些局限性
解释此类基因检测的伦理问题

结论：指明前进的方向
简要总结以上信息。
评估它（例如，“虽然……疾病的遗传原因是已知的，但对该疾病的检测可能会产生比它解决的问题更多的伦理问题，因为目前还没有已知的治疗方法…… ”）。
指出前进的方向（例如，“然而，按照海报中描述的思路进行的未来研究带来了希望，即在未来十年内可以找到治愈方法……）。

2. Organisation of the Abstract

EXAMPLE ABSTRACT.
The following Abstract is was submitted to the European Human Genetics
Conference 2013, June 8 – 11, 2013, Paris, France.
Your Abstract should be similar in format, but much shorter. We do not expect you to display such detailed technical knowledge. Remember, your Abstract has to be original, in your own words.

P05.036
Diagnosis and management of Bohring-Opitz Syndrome with or without ASXL1 mutations
J. M. Graham1, B. Russell2, J. Johnston3, L. Biesecker3; 1Cedars Sinai Medical Center, Los Angeles, CA, United States, 2UCI Medical Center, Los Angeles, CA, United States, 3National Human Genome Research Institute NIH, Bethesda, MD, United States.

We define the characteristic features and management for Bohring-Opitz Syndrome (BOS), a rare genetic condition characterized by distinctive facial features, characteristic posture, microcephaly, severe intellectual disability and feeding problems. Since being initially delineated in 1999, there are now approximately 30 published cases. In 2011, Hoischen et al. identified de novo nonsense mutations in ASXL1 in 7 out of 13 patients with BOS. Previously, somatic mutations in ASXL1 have been detected in myeloid malignancies, suggesting ASXL1 might be involved in tumor suppression. We report natural history from 3 previously unpublished patients with BOS, including the first known case of BOS with bilateral Wilms tumors. All 3 patients had novel de novo frameshift mutations in ASXL1, and 2 patients are normocephalic
with varied feeding issues and distinctive personalities (interactive, happy, and curious). Surviving patients with BOS may have a risk for tumors, and 2 previous patients with BOS had neoplasms. One patient with BOS died at 5 months with bilateral nephroblastomatosis, and another patient with BOS developed medulloblastoma at age 5 years; neither had mutations in ASXL1.

With a malignancy potential for BOS, tumor surveillance should be considered in patients with and without ASXL1 mutations for disease monitoring and management. Diagnostic criteria may also need to be broadened to help identify previously undiagnosed cases. We review these 3 new cases and compare them with previous cases of BOS with and without mutations in ASXL1, and also with patients with mutations in ASXL3, to broaden diagnostic criteria and suggest a tumor surveillance protocol.

2. 摘要的组织

示例摘要。
以下摘要已提交给欧洲人类遗传学
2013 年会议，2013 年 6 月 8 日至 11 日，法国巴黎。
您的摘要格式应该相似，但要短得多。 我们不期望您展示如此详细的技术知识。 请记住，您的摘要必须是原创的，用您自己的话来说。

P05.036
伴有或不伴有 ASXL1 突变的 Bohring-Opitz 综合征的诊断和治疗
J. M. Graham1、B. Russell2、J. Johnston3、L. Biesecker3； 1美国加利福尼亚州洛杉矶雪松西奈医疗中心，2美国加利福尼亚州洛杉矶UCI医疗中心，3美国马里兰州贝塞斯达国立卫生研究院国家人类基因组研究所。

我们定义了博林-奥皮茨综合征 (BOS) 的特征和治疗，这是一种罕见的遗传性疾病，其特征是独特的面部特征、特征姿势、小头畸形、严重智力障碍和喂养问题。 自 1999 年首次提出以来，现已公布约 30 个案例。 2011 年，Hoischen 等人。 在 13 名 BOS 患者中，有 7 名发现了 ASXL1 的从头无义突变。 此前，在骨髓恶性肿瘤中检测到 ASXL1 的体细胞突变，表明 ASXL1 可能参与肿瘤抑制。 我们报告了 3 名先前未发表的 BOS 患者的自然病史，其中包括第一例已知的双侧肾母细胞瘤 BOS 病例。 所有 3 名患者均出现 ASXL1 新的从头移码突变，其中 2 名患者为正常头颅
具有不同的喂养问题和独特的个性（互动、快乐和好奇）。 幸存的 BOS 患者可能有患肿瘤的风险，并且 2 名既往 BOS 患者患有肿瘤。 一名 BOS 患者在 5 个月时因双侧肾母细胞瘤死亡，另一名 BOS 患者在 5 岁时出现髓母细胞瘤； 两者都没有 ASXL1 突变。

由于 BOS 具有恶性潜力，因此应考虑对有或没有 ASXL1 突变的患者进行肿瘤监测，以进行疾病监测和管理。 诊断标准可能还需要扩大，以帮助识别以前未诊断的病例。 我们回顾了这 3 例新病例，并将它们与先前有或没有 ASXL1 突变的 BOS 病例以及有 ASXL3 突变的患者进行比较，以扩大诊断标准并提出肿瘤监测方案。