Alpha-1-antitrypsin Deficiency

Incidence and onset information

Alternative names

Alpha-1-antitrypsin Deficiency Is also known as deficiency in alpa-1-proteinase inhibitor.

Researches and researchers

Doctors, researchs, and experts related to Alpha-1-antitrypsin Deficiency extracted from public data.

Alpha-1-antitrypsin Deficiency Experts map

Current Researchs and researchers

• HANNOVER — Pr Ulrich MARTIN

  Investigator of research project - Coordinator of research network
  
  

  • Institution/s:
    — Medizinische Hochschule Hannover
  • Research area/topic::
    

    CARPuD: Network Cellular Approaches for Rare Pulmonary Diseases



• DUBLIN — Ms Catherine O'CONNOR (MOVED JOBS)

  Investigator of research project
  
  

  • Institution/s:
    — RCSI Education & Research Centre, Beaumont Hospital
  • Research area/topic::
    

    Alpha-1 antitrypsin deficiency: Which is important phenotype, level, activity or all three?



• DUBLIN — Dr Emer REEVES

  Investigator of research project
  
  

  • Institution/s:
    — RCSI Education & Research Centre, Beaumont Hospital
  • Research area/topic::
    

    Altered lipid raft cholesterol content contributes to the dysregulated activity of neutrophils in alpha-1 antitrypsin deficiency



• MILANO — Dr Sergio HARARI

  Coordinator of expert centre - Principal investigator of clinical trial - Coordinator of research network
  
  

  • Institution/s:
    — Ospedale San Giuseppe
    — Ospedale San Giuseppe
  • Research area/topic::
    

    Il Polmone.it - Malattie Rare Polmonari



• MILANO — Dr Roberto SITIA

  Investigator of research project
  
  

  • Institution/s:
    — Dipartimento di Biotecnologie, IRCCS Ospedale San Raffaele
  • Research area/topic::
    

    Proteostasis in the early secretory compartment as a pathogenetic mechanism and therapeutic target



• PADOVA — Dr Nicola ELVASSORE

  Investigator of research project
  
  

  • Institution/s:
    — Università degli Studi di Padova
  • Research area/topic::
    

    Drug testing for liver disease in alpha-1 antitrypsin deficiency by a large-scale patient-specific hiPS cells library



• LEIDEN — Dr Laura FREGONESE

  Investigator of research project - Coordinator of patient registry network
  
  

  • Institution/s:
    — LUMC - Leids Universitair Medisch Centrum
  • Research area/topic::
    

    PAAIR: Patient's Association and Alpha-1 International Registry network (coordination)



• VALENCIA — Pr Francisco DASÍ FERNÁNDEZ

  Investigator of research project
  
  

  • Institution/s:
    — INCLIVA
  • Research area/topic::
    

    Design and development of a method based on CRISPR/Cas9 to repair the alpha-1 antitrypsin gene



• VALENCIA — Pr Amparo ESCRIBANO MONTANER

  Coordinator of expert centre - Investigator of research project
  
  

  • Institution/s:
    — Hospital Clínico Universitario de Valencia
    — Universitat de València. Facultat de Medicina i Odontologia
  • Research area/topic::
    

    Design and development of a method based on CRISPR/Cas9 to repair the alpha-1 antitrypsin gene



• BELLINZONA — Dr Maurizio MOLINARI

  Investigator of research project
  
  

  • Institution/s:
    — Protein Folding and Quality Control - Institute for Research in Biomedicine, Istituto di Ricerca in Biomedicina
  • Research area/topic::
    

    Investigating cellular mechanisms regulating protein folding and quality control to intervene in conformational diseases



• BIRMINGHAM — Ms Mahitha GUMMADI

  Investigator of research project
  
  

  • Institution/s:
    — Queen Elizabeth Medical Centre, Queen Elizabeth Hospital
    — St John's Institute of Dermatology, St Thomas' Hospital
    — D Floor, South Block, Queen's Medical Centre
    — Southampton General Hospital
  • Research area/topic::
    

    Alpha 1 anti-trypsin deficiency assessment and programme for treatment (screening programme)



• BIRMINGHAM — Pr Robert STOCKLEY

  Investigator of research project - Manager of registry
  
  

  • Institution/s:
    — Queen Elizabeth Medical Centre, Queen Elizabeth Hospital
    — Outpatient,Ground Floor, Queen Elizabeth Hospital Birmingham
  • Research area/topic::
    

    Alpha 1 anti-trypsin deficiency assessment and programme for treatment (screening programme)



• LONDON — Ms Mahitha GUMMADI

  Investigator of research project
  
  

  • Institution/s:
    — Queen Elizabeth Medical Centre, Queen Elizabeth Hospital
    — St John's Institute of Dermatology, St Thomas' Hospital
    — D Floor, South Block, Queen's Medical Centre
    — Southampton General Hospital
  • Research area/topic::
    

    Alpha 1 anti-trypsin deficiency assessment and programme for treatment (screening programme)



• NOTTINGHAM — Ms Mahitha GUMMADI

  Investigator of research project
  
  

  • Institution/s:
    — Queen Elizabeth Medical Centre, Queen Elizabeth Hospital
    — St John's Institute of Dermatology, St Thomas' Hospital
    — D Floor, South Block, Queen's Medical Centre
    — Southampton General Hospital
  • Research area/topic::
    

    Alpha 1 anti-trypsin deficiency assessment and programme for treatment (screening programme)



• SOUTHAMPTON — Ms Mahitha GUMMADI

  Investigator of research project
  
  

  • Institution/s:
    — Queen Elizabeth Medical Centre, Queen Elizabeth Hospital
    — St John's Institute of Dermatology, St Thomas' Hospital
    — D Floor, South Block, Queen's Medical Centre
    — Southampton General Hospital
  • Research area/topic::
    

    Alpha 1 anti-trypsin deficiency assessment and programme for treatment (screening programme)

Alpha-1-antitrypsin Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
GeneAware Complete Panel Version 2 (Female). By Baylor Miraca Genetics Laboratories (United States). RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...) View the complete list with 139 more genes Panel complete gene list RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK, TGM1, TH, TTPA, UBE3A, UGT1A1, USH1C, USH2A, CLRN1, WAS, MCOLN1, NPHS2, CDH23, PCDH15, CAPN3, CBS, HPS3, LRPPRC, RTEL1, MLC1, DCLRE1C, ADA, CFTR, CHAT, POMGNT1, CHRNE, SUMF1, DHDDS, TPP1, CLN3, CLN5, CLN6, CLN8, ADAMTS2, COL4A3, CPT1A, ETHE1, CPT2, GNE, MMACHC, TMEM216, CTNS, CTSK, CYBB, CYP1B1, CYP27A1, BBS10, DOK7, DBT, DHCR7, DLD, DMD, GNPTAB, DPYD, AGA, AGL, EIF2B5, AGXT, FAH, FANCC, FKTN, FH, FMR1, ALDH3A2, G6PC, G6PD, SLC37A4, GAA, GALC, GALT, ALDOB, GBA, GCDH, GJB2, GJB6, GLB1, GLDC, ALPL, GRHPR, AMT, HADHA, HBA1, HBA2, HBB, HEXA, HEXB, HMGCL, HSD17B4, IDUA, ABCC8, ELP1, IL2RG, ABCD1, IVD, LAMA3, LAMB3, LAMC2, MAN2B1, MECP2, ARSA, MPI, MPL, ASL, MTTP, ASPA, ASS1, MYO7A, NBN, NEB, NPC1, NPHP1, NPHS1, ATM, OCRL, OTC, PAH, PC, PCCA, PCCB, ATP7B, SLC26A4, PEX1, PEX7, ACADM, PHGDH, SERPINA1, PKHD1, PLA2G6, PMM2, POLG, ACADVL, PPT1, PROP1, BBS1, BBS2, PTS, PEX2, BCKDHA, RAPSN, BCKDHB Close Specificity 1 % Genes 100 %
GeneAware Complete Panel Version 2 (Male). By Baylor Miraca Genetics Laboratories (United States). RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, TGM1 , (...) View the complete list with 129 more genes Panel complete gene list RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, TGM1, TH, TTPA, UBE3A, UGT1A1, USH1C, USH2A, CLRN1, WAS, MCOLN1, NPHS2, CDH23, PCDH15, CAPN3, CBS, HPS3, LRPPRC, RTEL1, MLC1, DCLRE1C, ADA, CFTR, CHAT, POMGNT1, CHRNE, SUMF1, DHDDS, TPP1, CLN3, CLN5, CLN6, CLN8, ADAMTS2, COL4A3, CPT1A, ETHE1, CPT2, GNE, MMACHC, TMEM216, CTNS, CTSK, CYP1B1, CYP27A1, BBS10, DOK7, DBT, DHCR7, DLD, GNPTAB, DPYD, AGA, AGL, EIF2B5, AGXT, FAH, FANCC, FKTN, FH, ALDH3A2, G6PC, SLC37A4, GAA, GALC, GALT, ALDOB, GBA, GCDH, GJB2, GJB6, GLB1, GLDC, ALPL, GRHPR, AMT, HADHA, HBA1, HBA2, HBB, HEXA, HEXB, HMGCL, HSD17B4, IDUA, ABCC8, ELP1, IVD, LAMA3, LAMB3, LAMC2, MAN2B1, ARSA, MPI, MPL, ASL, MTTP, ASPA, ASS1, MYO7A, NBN, NEB, NPC1, NPHP1, NPHS1, ATM, PAH, PC, PCCA, PCCB, ATP7B, SLC26A4, PEX1, PEX7, ACADM, PHGDH, SERPINA1, PKHD1, PLA2G6, PMM2, POLG, ACADVL, PPT1, PROP1, BBS1, BBS2, PTS, PEX2, BCKDHA, RAPSN, BCKDHB Close Specificity 1 % Genes 100 %
Comprehensive Pulmonary Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). RPGR, SCNN1A, SCNN1B, SCNN1G, BMPR1B, BMPR2, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, SLC7A7, SPAG1, STAT3, TERC, TERT, TINF2, NKX2-1, TSC1, TSC2 , (...) View the complete list with 73 more genes Panel complete gene list RPGR, SCNN1A, SCNN1B, SCNN1G, BMPR1B, BMPR2, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, SLC7A7, SPAG1, STAT3, TERC, TERT, TINF2, NKX2-1, TSC1, TSC2, RSPH1, CFAP298, CAV1, HPS3, HPS4, RTEL1, NME8, LRRC6, HPS5, DTNBP1, ACVRL1, INVS, CENPF, CCNO, DNAI2, HPS6, CFTR, DOCK8, ZMYND10, DNAAF2, BLOC1S3, RSPH3, RSPH9, DNAAF4, RSPH4A, DNAL1, DRC1, CSF2RA, CSF2RB, CCDC39, TTC25, ARMC4, OFD1, DNAAF5, CCDC40, CCDC114, FLCN, ELMOD2, CCDC151, DKC1, DNAH1, DNAH11, DNAH5, DNAH8, DNAI1, CCDC65, DNAAF3, DNAAF1, DNAJB13, EDN3, EFEMP2, CCDC103, ABCA3, ELN, ENG, FBLN5, FOXF1, MCIDAS, GAS8, GDF2, ALMS1, HPS1, AP3B1, KCNA5, KCNK3, LTBP4, SMAD4, SMAD9, MUC5B, BLOC1S6, PARN, SERPINA1, PHOX2B Close Specificity 2 % Genes 100 %
Alpha-1-Antitrypsin Deficiency, DNA Analysis. By Molecular Diagnostic Laboratory University of Alberta (Canada). SERPINA1 Specificity 100 % Genes 100 %
SERPINA1 Sequencing or Genotyping. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). SERPINA1 Specificity 100 % Genes 100 %
SERPINA1 Deletion/duplication analysis. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). SERPINA1 Specificity 100 % Genes 100 %
Liver Diseases Deletion/duplication panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). SLC25A13, SLC27A5, SMPD1, HNF1A, HNF1B, TJP2, UGT1A1, ABCG5, ABCG8, NPC2, INVS, CFTR, NPHP4, PEX26, TMEM216, CTRC, TRMU, DGUOK, DHCR7, CC2D2A , (...) View the complete list with 24 more genes Panel complete gene list SLC25A13, SLC27A5, SMPD1, HNF1A, HNF1B, TJP2, UGT1A1, ABCG5, ABCG8, NPC2, INVS, CFTR, NPHP4, PEX26, TMEM216, CTRC, TRMU, DGUOK, DHCR7, CC2D2A, FAH, ATP8B1, ALDOB, ABCB11, ABCB4, JAG1, LIPA, MKS1, MPV17, NPC1, NPHP1, NPHP3, ATP7B, PEX1, PEX12, PEX14, PEX3, PEX6, PEX7, SERPINA1, POLG, BAAT, PEX2, PEX5 Close Specificity 3 % Genes 100 %
Liver Diseases Panel by next-generation sequencing (NGS). By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). SCP2, SLC10A1, SLC10A2, SLC25A13, SLC27A5, SMPD1, HNF1A, HNF1B, TJP2, UGT1A1, VPS33B, NEUROG3, ABCG5, ABCG8, NPC2, INVS, DCDC2, HSD3B7, CFTR, NPHP4 , (...) View the complete list with 52 more genes Panel complete gene list SCP2, SLC10A1, SLC10A2, SLC25A13, SLC27A5, SMPD1, HNF1A, HNF1B, TJP2, UGT1A1, VPS33B, NEUROG3, ABCG5, ABCG8, NPC2, INVS, DCDC2, HSD3B7, CFTR, NPHP4, GPBAR1, CLDN1, VIPAS39, PEX26, TMEM216, CTRC, TRMU, CYP27A1, CYP7A1, CYP7B1, DGUOK, DHCR7, CC2D2A, EHHADH, EPHX1, FAH, ATP8B1, AKR1D1, ALDOB, ABCB11, ABCB4, AMACR, HSD17B4, ABCC2, JAG1, LIPA, ABCD3, MKS1, MPV17, MYO5B, NOTCH2, NPC1, NPHP1, NPHP3, NR1H4, ATP7B, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PEX7, SERPINA1, POLG, BAAT, PEX19, PEX2, PEX5 Close Specificity 2 % Genes 100 %

Sources and references

You can check the following sources for additional information.

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