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國際罕見疾病中心

張雅惠

國際罕見疾病中心 遺傳諮詢師

張雅惠醫師

  • 現職

    • 台北馬偕紀念醫院國際罕見疾病中心 遺傳諮詢師

      Genetic Counselor, Rare Disease Center, MacKay Memorial Hospital

    • 台灣肢端肥大症病友會 秘書長 

      Secretary-general, Club of Acromegaly Taiwan (COAT)

  • 主要學歷

    • 台北醫學大學醫學研究所醫學人文組碩士
      Institute of Medical Research (Medical Humanities Program), Taipei Medical University
    • 國立陽明大學遺傳研究所遺傳諮詢學程結業
      Institute of Genetics (Genetic Counseling Training Program), National Yang-Ming University
    • 台北馬偕紀念醫院小兒科遺傳諮詢門診代訓
      Pediatric Clinic (Genetic Counseling Training Program), MacKay Memorial Hospital
    • 行政院衛生署國民健康局國際遺傳諮詢人才培育計畫結業-美國杜克大學醫學中心
      International Genetics Training Program of Department of Health Bureau (government scholarship) Duke University Medical Center/ Children’s Hospital/UNC Hospital Cancer Center
    • 專業證照Professional License
      1.台灣遺傳諮詢學會遺傳諮詢師證書 (110)台遺諮證字第015號
      Certificate of Genetic Counselor, Taiwan Association of Genetic Counseling (TAGC)
      2.中華民國人類遺傳學會遺傳諮詢師證書 (111)中人遺證字01002號
      Certificate of Genetic Counselor, Taiwan Human Genetics Society (THGS)

    主要經歷

    • 財團法人罕見疾病基金會 研究企劃專員/病患服務組組長
      Specialist (Division of Research & Planning) & Team Leader (Division of Patient Service), Taiwan Foundation for Rare Disorders (TFRD)
    • 台北市立聯合醫院婦幼院區小兒科 遺傳諮詢師
      Genetic Counselor, Women and Children Branch of Taipei City Hospital
    • 中華民國衛生保健基金會新生兒篩檢中心 遺傳諮詢師
      Genetic Counselor, Newborn Screening Centre of CFOH (Chinese Foundation of Health)
    • 中華民國人類遺傳學會 執行秘書
      Executive Secretary & Genetic Counselor, Taiwan Human Genetics Society (THGS)

    •  台灣遺傳諮詢學會 秘書長   Secretary-general, Taiwan Association of Genetic Counseling (TAGC)

     

    榮譽

執行項目或專長

MAJOR SERVICE

  • 兒童遺傳諮詢
  • 遺傳罕見疾病檢測諮詢
  • 溶小體儲積症遺傳諮詢

其他相關

<國際會議參與>

  • World Alliance of Pituitary Organizations (WAPO) Summit 2017, Netherlands, May12-14, 2017 (Full memeber)
  • World Alliance of Pituitary Organizations (WAPO) Summit 2018, Venice, April 20-22, 2018   An Awareness Campaign for extreme growth “Hulk”.  Best Poster Award, 2018 WAPO SUMMIT, Venice, 2018.04.22 (Full member)
  • World Alliance of Pituitary Organizations (WAPO) Summit 2019, Lyon May 17-19, 2019   The Introduction of New Treatment with Acromegaly in Taiwan.  Best Poster Award, 2019 WAPO SUMMIT, Lyon, 2019.05.19 (Full member)
  • World Alliance of Pituitary Organizations (WAPO) Summit 2023, Argentina, Oct 06-08, 2023 (Full member)

 

 

論文研究

<論文研究>

  • Lee CL, Lin SM, Chen MR, Chuang CK, Chiu HC, Tu YR, Lo YT, Chang YH, Hsiang-Yu Lin* (co-corresponding author), Lin SP*. DiGeorge Syndrome (22q11.2 Deletion) in Taiwan: Clinical Presentation and Immune System Status of Patients. Int J Med Sci. 2023; 20(11): 1377-1385. (SCI)
  • Syu YM, Lee CL, Chuang CK, Chiu HC, Chang YH, Hsiang-Yu Lin* (co-corresponding author), Lin S-P*. Functional Independence of Taiwanese Children with Osteogenesis Imperfecta. J Pers Med. 2022 Jul 24;12(8):1205. (SCI)
  • Hsiang-Yu Lin, Chang YH, Lee CL, Tu YR, Lo YT, Hung PW, Niu DM, Liu MY, Liu HY, Chen HJ, Kao SM, Wang LY, Ho HJ, Chuang CK, Lin SP. Newborn Screening Program for Mucopolysaccharidosis Type II and Long-Term Follow-up of the Screen-Positive Subjects in Taiwan. J Pers Med. 2022 Jun 21;12(7):1023. (SCI)
  • Syu YM, Lee HC, Chang JH, Lee CL, Chuang CK, Chiu HC, Chang YH, Hsiang-Yu Lin* (co-corresponding author), Lin S-P*. Rapid weight loss and severe failure to thrive mimicking lipodystrophy syndrome in a 1- year-old Taiwanese girl with Costello syndrome. Children (Basel). 2022 Jun 16;9(6):905. (SCI)
  • Lee CL, Lin SM, Chen MR, Chuang CK, Syu YM, Chiu HC, Tu RY, Lo YT, Chang YH, Hsiang-Yu Lin* (co-corresponding author), Lin S-P*. Long-Term Cardiovascular Findings in Williams Syndrome: A Single Medical Center Experience in Taiwan. J Pers Med. 2022 May 18;12(5):817. (SCI)
  • Lee CL, Chuang CK, Syu YM, Chiu HC, Tu YR, Lo YT, Chang YH, Hsiang-Yu Lin* (co-corresponding author), Lin S-P*. Efficacy and Safety of Intravenous Elosulfase Alfa for Mucopolysaccharidosis Type IVA: A Systematic Review and Meta-Analysis. J Pers Med. 2022, 12, 1338. (SCI)
  • Chuang CK, Tu YR, Lee CL, Lo YT, Chang YH, Liu MY, Liu HY, Chen HJ, Kao SM, Wang LY, Ho HJ, Hsiang-Yu Lin* (co-corresponding author), Lin S-P*. Updated Confirmatory Diagnosis for Mucopolysaccharidoses in Taiwanese Infants and the Application of Gene Variants. Int J Mol Sci. 2022, 23, 9979. (SCI)
  • Lee CL, Chuang CK, Syu YM, Chiu HC, Tu YR, Lo YT, Chang YH, Hsiang-Yu Lin* (co-corresponding author), Lin S-P*. Efficacy and Safety of Intravenous Elosulfase Alfa for Mucopolysaccharidosis Type IVA: A Systematic Review and Meta-Analysis. J Pers Med. 2022, 12, 1338. (SCI)
  • Syu YM, Lee CL, Chuang CK, Chiu HC, Chang YH, Hsiang-Yu Lin* (co-corresponding author), Lin S-P*. Functional Independence of Taiwanese Children with Osteogenesis Imperfecta. J Pers Med. 2022 Jul 24;12(8):1205. (SCI)
  • Hsiang-Yu Lin, Chang YH, Lee CL, Tu YR, Lo YT, Hung PW, Niu DM, Liu MY, Liu HY, Chen HJ, Kao SM, Wang LY, Ho HJ, Chuang CK, Lin SP. Newborn Screening Program for Mucopolysaccharidosis Type II and Long-Term Follow-up of the Screen-Positive Subjects in Taiwan. J Pers Med. 2022 Jun 21;12(7):1023. (SCI)
  • Syu YM, Lee HC, Chang JH, Lee CL, Chuang CK, Chiu HC, Chang YH, Hsiang-Yu Lin* (co-corresponding author), Lin S-P*. Rapid weight loss and severe failure to thrive mimicking lipodystrophy syndrome in a 1- year-old Taiwanese girl with Costello syndrome. Children (Basel). 2022 Jun 16;9(6):905. (SCI)
  • Lee CL, Lin SM, Chen MR, Chuang CK, Syu YM, Chiu HC, Tu RY, Lo YT, Chang YH, Hsiang-Yu Lin* (co-corresponding author), Lin S-P*. Long-Term Cardiovascular Findings in Williams Syndrome: A Single Medical Center Experience in Taiwan. J Pers Med. 2022 May 18;12(5):817. (SCI)
  • Lee CL, Chuang CK, Tu RY, Chiu HC, Lo YT, Chang YH, Chen YJ, Chou, CL Wu PS, Chen CP, Hsiang-Yu Lin* (co-corresponding author), Lin SP*. Increased Diagnostic Yield of Array Comparative Genomic Hybridization for Autism Spectrum Disorder in One Institution in Taiwan. Medicina. 2022, 58, 15. (SCI)
  • Lin HY, Lee CL, Fran S, Tu RY, Chang YH, Niu DM, Chang CY, Chiu PC, Chou YY, Hsiao HP, Tsai MC, Chao MC, Tsai LP, Yang CF, Su PH, Pan YW, Lee CH, Chu TH, Chuang CK, Lin SP. Epigenotype, Genotype, and Phenotype Analysis of Taiwanese Patients with Silver-Russell Syndrome. J Pers Med. 2021 Nov 13;11(11):1197. doi: 10.3390/jpm11111197. (SCI)
  • Lin HY, Lee CL, Fran S, Tu RY, Chang YH, Niu DM, Chang CY, Chiu PC, Chou YY, Hsiao HP, Yang CF, Tsai MC, Chu TH, Chuang CK, Lin SP. Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Beckwith-Wiedemann Syndrome. J Pers Med. 2021 Oct 22;11(11):1066. doi: 10.3390/jpm11111066. PMID: 34834418. (SCI)
  • Lee CL, Chuang CK, Chiu HC, Tu RY, Lo YT, Chang YH, Lin HY, Lin SP. Wiedemann-Steiner Syndrome with a Pathogenic Variant in KMT2A from Taiwan. Children (Basel). 2021 Oct 22;8(11):952. doi: 10.3390/children8110952. PMID: 34828665 (SCI)
  • Chuang CK, Lee CL, Tu RY, Lo YT, Sisca F, Chang YH, Liu MY, Liu HY, Chen HJ, Kao SM, Wang LY, Ho HJ, Lin HY, Lin SP. Nationwide Newborn Screening Program for Mucopolysaccharidoses in Taiwan and an Update of the "Gold Standard" Criteria Required to Make a Confirmatory Diagnosis. Diagnostics (Basel). 2021 Aug 31;11(9):1583. doi: 10.3390/diagnostics11091583. PMID: 34573925 (SCI)
  • Chuang CK, Lee CL, Tu RY, Lo YT, Sisca F, Chang YH, Liu MY, Liu HY, Chen HJ, Kao SM, Wang LY, Ho HJ, Lin HY, Lin SP. Nationwide Newborn Screening Program for Mucopolysaccharidoses in Taiwan and an Update of the "Gold Standard" Criteria Required to Make a Confirmatory Diagnosis. Diagnostics (Basel). 2021 Aug 31;11(9):1583. doi: 10.3390/diagnostics11091583. PMID: 34522163 (SCI)
  • Lee CL, Chuang CK, Hsu CH, Chiu HC, Tu RY, Lo YT, Chang YH, Lin HY, Lin SP. The first mucopolysaccharidosis type VII in a Taiwanese girl: A case report and review of the literature. J Formos Med Assoc. 2021 Aug 19:S0929-6646(21)00355-7. doi: 10.1016/j.jfma.2021.07.024. Online ahead of print. PMID: 34420841 (SCI)
  • Lee CL, Chuang CK, Chiu HC, Tu RY, Lo YT, Chang YH, Lin HY, Lin SP. The first SHORT syndrome in a Taiwanese boy: A case report and review of the literature. Mol Genet Metab Rep. 2021 May 7;27:100768. doi: 10.1016/j.ymgmr.2021.100768. eCollection 2021 Jun.PMID: 34026551 (SCI)
  • Lin HY, Tu RY, Chern SR, Lo YT, Fran S, Wei FJ, Huang SF, Tsai SY, Chang YH, Lee CL, Lin SP, Chuang CK. Identification and Functional Characterization of IDS Gene Mutations Underlying Taiwanese Hunter Syndrome (Mucopolysaccharidosis Type II). Int J Mol Sci. 2019 Dec 23;21(1):114. doi: 10.3390/ijms21010114.PMID: 31877959 (SCI)
  • Lin HY, Lee CL, Lo YT, Tu RY, Chang YH, Chang CY, Chiu PC, Chang TM, Tsai WH, Niu DM, Chuang CK, Lin SP. An At-Risk Population Screening Program for Mucopolysaccharidoses by Measuring Urinary Glycosaminoglycans in Taiwan. Diagnostics (Basel). 2019 Oct 5;9(4):140. doi: 10.3390/diagnostics9040140.PMID: 31590383 (SCI)
  • 張雅惠、林翔宇、莊志光、李忠霖、羅允廷、塗如意、林炫沛。黏多醣症的遺傳諮詢。生物醫學 2021 年第 14 卷第 4 期：240-248。
  • 莊志光、林翔宇、羅允廷、塗如意、李忠霖、張雅惠、林炫沛。黏多醣的實驗室檢查與診斷。生物醫學 2021 年 第 14 卷第 3 期：180-190。
  • 黏多醣症醫療照護手冊第二版, 衛生福利部國民健康署委託台北馬偕紀念醫院執行, 執行編輯Executive Editor, Medical Care Manual of MPS Disease, Ministry of Health and Welfare & Mackay Memorial Hospital, 2021.04.
  • 黏多醣症醫療照護手冊第一版, 衛生福利部國民健康署委託台北馬偕紀念醫院執行, 執行編輯Executive Editor, Medical Care Manual of MPS Disease, Ministry of Health and Welfare & Mackay Memorial Hospital, 2017.11

 

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