专家咨询委员会

在林奇综合征认知中心,我们深感荣幸地拥有一个由遗传性癌症综合征领域专家组成的专业顾问委员会。委员会每位成员都拥有丰富的经验,并致力于推动遗传认知、患者教育及主动医疗保健的发展。

我们的顾问委员会汇聚了备受尊敬的医师、研究人员及专家,他们毕生致力于研究和治疗林奇综合征及相关疾病。从知名肿瘤学家、遗传咨询师到胃肠病学家和妇科专家,每位顾问都在完善我们的教育资源和外展计划中发挥着关键作用。

我们对他们的支持以及对我们使命的共同热忱深表感激。我们携手努力,致力于赋予个人和家庭所需的知识,使他们能够掌控自身健康与福祉。

爱德华多·维拉-桑切斯医学博士、哲学博士
爱德华多·维拉-桑切斯医学博士、哲学博士

安德森癌症中心

爱德华多·维拉-桑切斯医学博士、哲学博士,既是受过专业训练的医学科学家,也是肿瘤内科医师。他将临床专长与实践投入于为被诊断患有胃肠道遗传性癌症综合征的患者及其家庭提供护理,这些综合征包括林奇综合征和家族性腺瘤性息肉病。遗传性癌症综合征患者罹患癌症的风险极高;其中林奇综合征患者可能在多个器官发生癌症。

维拉-桑切斯博士及其研究团队正在推动人们对结直肠癌分子水平致癌机制的理解。近期他们研究了抗炎镇痛药萘普生与阿司匹林在林奇综合征患者中的作用差异,发现萘普生除减轻炎症外,还对结肠的免疫反应产生影响。

维拉-桑切斯博士正利用这些信息开发新型癌症干预策略,尤其针对遗传性疾病的高危癌症易感性。该研究团队通过运用新一代测序技术和系统生物学工具,成功解析了结直肠癌前病变的基因组与转录组特征,从而发现了参与结直肠癌发生的新型协同基因(如CNOT3)。 该团队还发现了可用于临床试验的新型药物靶点,例如用于预防性疫苗的萘普生及针对林奇综合征的独特移码新抗原。

此外,维拉-桑切斯研究组还参与开发了体外模型,以更准确地再现未受影响的邻近黏膜组织及其癌前病变的生物学特性。维拉-桑切斯博士目前正致力于为高危人群开发多种癌症预防与免疫干预策略。

 

马修·B·尤尔格伦博士,医学博士,美国临床肿瘤学会会员(FASCO),认证胃肠病学家(CGAF)
马修·B·尤尔格伦博士,医学博士,美国临床肿瘤学会会员(FASCO),认证胃肠病学家(CGAF)

达纳-法伯癌症研究所

马修·B·尤尔格伦博士是胃肠肿瘤学和遗传性癌症综合征领域公认的全国性权威专家。他目前担任达纳-法伯癌症研究所医学肿瘤科高级医师、布里格姆妇女医院副医师,以及哈佛医学院医学副教授。

尤尔格伦博士是达纳-法伯林奇综合征中心的首任主任,同时担任癌症遗传学与预防科的临床研究主任。他专攻胃肠道癌症患者及遗传性癌症易感综合征患者的诊疗,尤其专注于林奇综合征领域。

受自己家族罹患林奇综合征的经历深刻启发,尤尔格伦博士将毕生精力投入到推进该病的早期检测、预防和精准治疗策略上。他的工作为改善受遗传性癌症影响的家庭的生活结局做出了贡献,证明了知识、监测和主动护理如何能够拯救代代相传的生命。

除了在临床和研究领域发挥领导作用外,尤尔格伦博士还是一位充满热情的教育家和导师,致力于培养新一代医生,并在医学界提高对遗传性癌症风险的认识。

尤尔格伦博士为医疗顾问委员会带来了卓越的专业知识、同理心和领导力,助力推进改善受林奇综合征影响的个人及家庭的教育、认知和救命干预措施这一使命。

 

Dr. Vivek Kaul, MD, FACG, FASGE, AGAF, NYSGEF
Dr. Vivek Kaul, MD, FACG, FASGE, AGAF, NYSGEF

University of Rochester Medical Center in Rochester, NY.

Dr. Vivek Kaul is professor of Medicine-Gastroenterology & Hepatology.  He has been in academic Gastroenterology and Therapeutic Endoscopy practicefor nearly 25 years. Dr Kaul’s clinical, research and medical education efforts are focused on Therapeutic Endoscopy (EUS, ERCP, Pancreaticobiliary disease & Barretts/Esophageal cancer). He is a PI and/or co-PI on several national and international trials in endoscopy, pancreatic and esophageal disease, including several NIH sponsored trials. Dr Kaul serves in several leadership roles in national and international GI societies. He currently serves as President-Elect of the World Gastroenterology Organization (WGO), and is on the WGO Governing Council, Executive & Finance Committees. Dr Kaul is also Chair of the American Gastroenterology Association (AGA) Council section of Endoscopy, Technology & Imaging (ETI). He is a long-standing member (and past Chair) of the ASGE Reimbursement committee and a member of the
ACG International Relations committee.
Dr Kaul also serves on several national and international task forces, including the WGO Climate Change-Green Endoscopy task Force and the ACG Ergonomics task force. In addition, he currently serves on the EUS, Research & Industry relations subcommittees of the GI-Quic national consortium. Dr Kaul is a reviewer and editorial board member for several national and international journals and is an Associate Editor for ASGE’s innovation journal iGIE. He has published extensively in the field of interventional endoscopy & several other aspects of Gastroenterology, with more than 130 peer reviewed publications in top tier journals. Dr Kaul has been a Castle Connolly “top doc” for 10 years in a
row. He is a sought-after speaker and regularly lectures and shares his endoscopy expertise at
centers in the USA and around the world.
路易吉·里恰迪埃洛医学博士
路易吉·里恰迪埃洛医学博士

安德森癌症中心

德克萨斯大学MD安德森癌症中心内科部胃肠病学、肝病学与营养学系教授,德克萨斯州休斯顿市 

里恰迪耶洛博士的主要临床研究方向是消化系统癌症的预防,尤其专注于结直肠癌领域。 他与多学科团队(包括遗传咨询师、外科医生、肿瘤科医生、妇产科专家等)紧密合作,过去15年专注于遗传性胃肠癌综合征患者的诊疗工作,在内镜管理这些复杂综合征方面积累了深厚造诣。正因如此,博洛尼亚大学医院已成为该类患者诊疗的国家级参考中心。

路易吉·里恰尔迪埃洛博士是《欧洲内镜管理息肉病综合征患者指南》(ESGE)的资深作者,并参与了针对林奇综合征患者的专项指南制定工作。此外,他还在博洛尼亚大学医院协调结肠癌筛查项目长达十四年。

他对这一患者群体的奉献精神,使他得以建立一个研究项目及临床研究,重点关注结肠癌预防领域。 

Dr.  Ajay Bansal, M.D. FACP
Dr. Ajay Bansal, M.D. FACP

Professor of Medicine and Medical Director, Gastrointestinal Cancers Prevention Clinic, The University of Kansas Cancer Center

Dr. Bansal completed his residency training in Internal Medicine at New York Medical College,
New York. Subsequently, he served as the Chief Resident at New York Medical College, New
York. Then he completed his Gastroenterology Fellowship from the University Hospital at Stony
Brook, Long Island, New York. Currently, he is the Medical Director of Gastroenterology Cancers Prevention Clinic of the NCI-designated Kansas University Cancer Center and an
Professor of Medicine in the Department of Gastroenterology at the University of Kansas Health
System, Kansas City, KS. His overarching research interest is cancer prevention. He conductsresearch in the areas of inherited gastrointestinal cancer syndromes, Barrett’s esophagus and novel imaging techniques for detection of premalignant and malignant lesions in the gastrointestinal tract. He is the principal investigator on an NCI funded 14-center trial to test a
novel combination of vaccines and IL-15 superagonist in patients with Lynch syndrome. He recently was funded to repurpose itraconazole for prevention of recurrent Barrett’s esophagus in
a 5-center clinical trial. He has > 100 peer-reviewed publications and is a reviewer for multiple peer-reviewed journals. His work was covered by the Wall Street Journal.
何塞·亚历杭德罗·劳-海因医学博士,公共卫生硕士
何塞·亚历杭德罗·劳-海因医学博士,公共卫生硕士

MD安德森癌症中心 - 妇科肿瘤与生殖医学科,外科分部

劳-海因博士出生于墨西哥墨西哥城并在此成长,后于泛美大学医学院获得医学学位。他在麻省总医院担任研究学者期间,通过开展针对早期子痫前期检测生物标志物的基础科学研究与临床试验,进一步深化了专业造诣。
他在麻省总医院和布莱根妇女医院(哈佛医学院)完成了妇产科住院医师联合培训项目,随后在麻省总医院(哈佛医学院)完成了妇科肿瘤学专科医师培训。劳-海因博士还拥有哈佛公共卫生学院公共卫生硕士学位,并完成了癌症结局研究培训项目的博士后研究。
在加入德克萨斯大学MD安德森癌症中心之前,他曾任哈佛医学院妇科肿瘤学系教员及助理教授。其临床研究方向涵盖妇科恶性肿瘤的外科治疗及罕见妇科肿瘤的管理。此外,他致力于开展真实世界临床环境中的描述性与干预性研究,旨在探索有效策略以缩小妇科癌症治疗差距,并提升年轻女性癌症患者的诊疗水平。
梅丽莎·弗雷医学博士,理学硕士
梅丽莎·弗雷医学博士,理学硕士

威尔康奈尔医学院 / 纽约长老会医院

梅丽莎·弗雷博士是威尔康奈尔医学院/纽约长老会医院妇科肿瘤科的妇产科副教授,同时担任遗传学与个性化癌症预防项目的主任。 弗雷博士的临床诊疗与科研工作聚焦于遗传性癌症综合征(如BRCA1、BRCA2基因突变、林奇综合征)患者及乳腺癌、妇科癌症家族高危人群的管理。她擅长实施降低妇科癌症风险的手术,并担任多项针对高危人群癌症预防的大型临床试验首席研究员。 弗雷博士曾在国内外学术会议发表研究成果,并在同行评审期刊上发表论文逾130篇。

玛丽亚·伊涅斯塔-多纳特医学博士、哲学博士
玛丽亚·伊涅斯塔-多纳特医学博士、哲学博士

助理教授,安德森癌症中心

玛丽亚出生于西班牙阿利坎特并在此成长,她在米格尔·埃尔南德斯大学完成了医学博士和哲学博士学位。在马德里拉帕斯大学医院完成妇产科住院医师培训后,她获得了专业认证并担任主治医师。为深化科研经验,她获得奖学金资助前往密歇根大学深造。

在那里,她有幸师从索菲亚·梅拉杰弗博士和斯蒂芬·格鲁伯博士。在梅拉杰弗博士指导下,她的研究聚焦于遗传性乳腺癌和卵巢癌综合征,重点探讨低外显率基因的作用机制,并分析CHEK2和PALB2基因突变在不同人群中的流行情况。 随后在格鲁伯博士的指导下,她的研究转向结直肠癌分子生物学领域,先是探究全基因组甲基化变化,后聚焦于黏液性肿瘤研究。

2012年,玛丽亚与家人迁居至德克萨斯州休斯顿市,加入安德森癌症中心妇科肿瘤科。 此后,玛丽亚的工作涵盖了从实施术后加速康复(ERAS)方案到建立外科试验、整合患者报告结局(PROs),以及领导医疗服务和质量改进项目等一系列临床与转化研究计划。这些经历使玛丽亚得以将临床护理与研究相融合,致力于改善女性生殖系统癌症患者的治疗效果,并为因胚系突变而面临此类癌症风险的人群提供更优解决方案。

Jessica Long, MS, LCGC
Jessica Long, MS, LCGC

Genetic Counselor 3 Penn Medicine, University of Pennsylvania Health System

Jessica Long, MS, CGC, CGAF, earned her Master's degree in Human Genetics (Concentration in Genetic Counseling) from the University of Michigan and began her career in the University of Michigan Cancer Genetics Clinic in 2009. Since 2012, she has been a cancer genetic counselor at Penn Medicine, working within the Mariann and Robert MacDonald Cancer Risk Evaluation Program, the Basser Center for BRCA, and the Gastrointestinal Cancer Genetics Program. She also serves as Director of Education and Outreach for the King Center for Lynch Syndrome at Penn Medicine’s Abramson Cancer Center.

Jessica has contributed to a number of peer-reviewed publications focused on genetic counseling, hereditary cancer syndromes, and polyposis. She is actively involved in the University of Pennsylvania Master's Program in Genetic Counseling as a lecturer, thesis mentor, Co-Chair of the Clinical Education Committee, and clinical supervisor, and was recognized with the University of Pennsylvania MSGC Program’s Outstanding Supervisor Award in 2022.

As member of the international professional organization Collaborative Group of the Americas on Inherited Gastrointestinal Cancer (CGA-IGC), she previously chaired the Education Committee, was recognized as a CGA-IGC Fellow in 2023, and currently serves in a leadership capacity as a CGA-IGC Council Member. 

Jessica is committed to advancing education for patients, families, and healthcare professionals to support informed decision-making, to optimize health outcomes across generations, and to improve the care and quality of life for individuals with Lynch syndrome.

LSAE Interests and Strengths

I'm interested in communication and education for the public and healthcare professionals. My strengths include editing written content for clarity and accuracy, and I also have an eye for visual layout. My professional connections include healthcare professionals in the cancer genetics specialty (physicians, advanced practice nurses, genetic counselors), as well as some patient advocates/speakers.

艾米莉·艾普斯坦,持证社会工作者
艾米莉·艾普斯坦,持证社会工作者

威尔康奈尔医学院 / 纽约长老会医院

艾米莉·艾普斯坦(持证临床社会工作者)现任威尔康奈尔医学院/纽约长老会医院遗传学与个性化癌症预防项目的遗传社会工作者。她开创了该项目中的这一岗位,并成为全美首批正式设立遗传社会工作者职位的专业人士之一,致力于将心理社会护理融入遗传性癌症预防与精准医疗体系。
埃普斯坦女士怀着将心理健康与遗传学相融合的热忱,为面临遗传性癌症综合征的患者提供心理咨询、护理协调及家庭支持服务。她的工作致力于消除心理社会层面的治疗障碍,促进患者间的联结,改善家庭沟通,并开发可扩展的干预措施以促进情感健康与医疗公平。她合著了经同行评审的学术论文,并频繁在国内外会议上发表研究成果,倡导融合科学、关怀与创新的以患者为中心的诊疗模式。
莎拉·布尔津斯基
莎拉·布尔津斯基

经委员会认证的遗传咨询师,在肿瘤遗传咨询领域拥有丰富经验

莎拉毕业于北卡罗来纳大学格林斯伯勒分校遗传咨询专业,拥有逾四年的多学科临床遗传咨询经验,尤其专注于癌症遗传学领域。2025年春季,她转型为肿瘤学临床基因组科学家,运用专业技能从事遗传性癌症综合征基因检测的变异评估与结果解读工作。 莎拉现与伴侣及爱犬比格犬定居于佐治亚州亚特兰大市。闲暇时她热衷于玩极限飞盘、观看音乐剧和WNBA比赛,并享受烹饪乐趣。
莎拉渴望继续作为顾问委员会的一员服务于林奇综合征社群,并支持该组织的各项倡议。

 

Samuel Mckee
Samuel Mckee

Research scientist in Cancer genomics and DNA repair

Sam McKee is a research scientist in cancer genomics and DNA repair assessing structural-functional interpretation of MSH2 variants for clinical decision-making for Lynch Syndrome and colorectal cancer. He is a doctoral researcher at the University of Reading in the McGuffin lab. He did his BSc in genetics at Cambridge University, his MSc in molecular biology at Birkbeck University of London, before returning to Cambridge as a postgraduate in genomic medicine. He develops theoretical and computational frameworks to explain and predict genomic instability, focusing on how DNA repair networks fail under stress in cancer and radiation biology and models genomic instability as a universal failure mode under extreme biological stress, using cancer and radiation/space-relevant conditions as boundary cases to predict repair collapse and its consequences. The aim is to build mechanistic theories of genomic stability that unify cancer evolution and extreme-environment biology, translating mathematical models of DNA repair failure into predictive tools for medicine and human spaceflight risk. He is a university ambassador for The Genetics Society UK, as well as on the committees of The Mars Society UK. He is a voted member of the Royal Society of Biology, a fellow of the British Interplanetary Society, is on the board of communications for the British Society for Genetic Medicine, and part of the International Society for Gastrointestinal Hereditary Tumours (InSiGHT). He is also a member of the Society for Molecular Biology and Evolution.