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April 11-12, 2025 Tbilisi
Event lecturers

  • Ekaterina Zakharova

    MD, PhD, Research Centre of Medical Genetics

    Moscow, Russia

  • Lali Margvelashvili
    MD, Center for Medical Genetics and Laboratory Diagnostics

    Tbilisi, Georgia
  • Galina Baydakova
    PhD, Research Centre of Medical Genetics

    Moscow, Russia
  • Cristobal Colon
    Head of the Metabolic Disorders Laboratory, responsible for neonatal screening in the Autonomous Community of Galicia

    Santiago de Compostela, Spain
  • Dominique P Germain
    MD PhD is Professor.
    University of Versailles (UVSQ, Paris-Saclay University), Raymond Poincare Hospital (APHP - University Paris Saclay)

    Paris, France
  • Mikael Hjort
    PhD, Revvity Inc

    Turku, Finland

  • Andrei Marakhonov
    PhD, Research Centre of Medical Genetics

    Moscow, Russia

  • Tatiana Strokova

    MD, Federal Research Center for Nutrition and Biotechnology, Russian National Research Medical University named after N.I. Pirogov


    Moscow, Russia

  • Lena Sagi-Dain

    MD, Carmel Medical Center

    Haifa, Israel

  • Natella Kostandyan

    Center for Medical Genetics and Primary Health Care, , Yerevan State Medical University

    Yerevan, Armenia

  • Natalia Pechatnikova

    Carmel Medical Center
    Haifa, Israel

    "Morozovskaya City Clinical Hospital"

    Moscow, Russia

  • Yulia Rodina

    Federal State Budgetary Institution "National Medical Research Center of Dmitry Rogachev"

    Moscow, Russia

  • Dodo Agladze

    Center for Medical Genetics and Laboratory Diagnostics

    Tbilisi, Georgia

  • Maria Kareva

    MD, Tel Aviv Sourasky Medical Center - Ichilov

    Tel Aviv, Israel

  • Anna Tylki-Szymańska

    MD, Professor, Children's Memorial Health Institute

    Warsaw, Poland

  • Nato Vashakmadze

    MD, Professor, Russian Scientific Center of Surgery named after Academician B.V. Petrovsky

    Moscow, Russia

  • Tatiana Kekeeva

    "Morozovskaya City Clinical Hospital"

    Moscow, Russia

  • Sofia Pchelina

    PhD, Pavlov First Saint Petersburg State Medical University, Institute of Nuclear Physics of the Kurchatov Institute

    Saint-Petersburg,Russia

  • Vera Izhevskaya

    MD, Research Centre for Medical Genetics

    Moscow, Russia

  • Alin Ayvaz

    Center for Medical Genetics and Primary Health Care, Yerevan State Medical University

    Yerevan, Armenia

  • Oksana Pribushenya

    MD, PhD, "Mother and Child" Republican Scientific and Practical Center

    Minsk, Belarus

  • Gulnara Svyatova

    MD,PhD, Republican Medical and Genetic Consultation of the Scientific Center for Obstetrics, Gynecology and Perinatology, Association of Medical Geneticists of Kazakhstan

    Almaty, Kazakhstan

  • Anna Mukhina

    PhD, Federal State Budgetary Institution "Dmitry Rogachev National Medical Research Center for Pediatric Hematology and Oncology"

    Moscow, Russia

  • Valentina Peterkova

    MD, Academician of the Russian Academy of Sciences, "Endocrinology Research Center"

    Moscow, Russia

  • Elena Lapotentova

    State Institution "RSPC of Pediatric Oncology, Hematology and Immunology“

    Minsk, Belarus

  • Olga Smirnova

    Russian National Research Center named after Academician B.V. Petrovsky“

    Moscow, Russia

AGENDA

Friday, April 11th

Section №1


Early Detection Strategies

Chairman

Lali Margvelashvili

Ekaterina Zakharova

10:00-10:10 a.m.

(GMT+4, Tbilisi)


09:00-09:10 a.m.

(GMT+3, Moscow)

Opening Remarks

Lali Margvelashvili

MD, Center for Medical Genetics and Laboratory Diagnostics

Tbilisi, Georgia

10:10-10:40 a.m.

(GMT+4, Tbilisi)


09:10-09:40 a.m.

(GMT+3, Moscow)

General Trends in Early Diagnosis of Rare Diseases

Dominique P Germain
MD PhD is Professor.
University of Versailles (UVSQ, Paris-Saclay University), Raymond Poincare Hospital (APHP - University Paris Saclay)

Paris, France

10:40-11:10 a.m.

(GMT+4, Tbilisi)


09:40-10:10 a.m.

(GMT+3, Moscow)

MS/MS expanded screening, new approaches

Mikael Hjort

PhD, Revvity Inc

Turku, Finland

11:10-11:30 a.m.

(GMT+4, Tbilisi)


10:10-10:30 a.m.

(GMT+3, Moscow)

Expanded Neonatal Screening for Inborn Errors of Metabolism

Ekaterina Zakharova

MD, PhD, Research Centre of Medical Genetics

Moscow, Russia

11:30-11:40 a.m.

(GMT+4, Tbilisi)


10:30-10:40 a.m.

(GMT+3, Moscow)

Coffee Break

11:40-12:00 a.m.

(GMT+4, Tbilisi)


10:40-11:00 a.m.

(GMT+3, Moscow)

From Selective to Neonatal Screening for Lysosomal Storage Diseases

Galina Baydakova

PhD, Research Centre of Medical Genetics

Moscow, Russia

0:00-0:20 p.m.

(GMT+4, Tbilisi)


11:00-11:20 a.m.

(GMT+3, Moscow)

Experience with Extended Lysosomal Storage Diseases Screening

Cristobal Colon

Head of the Metabolic Disorders Laboratory, responsible for neonatal screening in the Autonomous Community of Galicia

Santiago de Compostela, Spain

0:20-0:40 p.m.

(GMT+4, Tbilisi)


11:20-11:40 a.m.

(GMT+3, Moscow)

Primary Immunodeficiency Screening: Current Approaches

Andrei Marakhonov

PhD, Research Centre of Medical Genetics

Moscow, Russia

0:40-1:10 p.m.

(GMT+4, Tbilisi)


11:40 a.m.-0:10 p.m.

(GMT+3, Moscow)

The tandem of a geneticist and a clinician accelerates the diagnosis of rare hereditary liver diseases in children

*with the support of FarmaMondo Biomedica

Tatiana Strokova

MD, Federal Research Center for Nutrition and Biotechnology, Russian National Research Medical University named after N.I. Pirogov


Moscow, Russia

Ekaterina Zakharova
MD, PhD, Research Centre of Medical Genetics

Moscow, Russia

1:10-1:30 p.m.

(GMT+4, Tbilisi)


0:10-0:30 p.m.

(GMT+3, Moscow)

Carrier Screening: Lessons from the Israel Experience

Lena Sagi-Dain

MD, Carmel Medical Center

Haifa, Israel

1:30-1:50 p.m.

(GMT+4, Tbilisi)


0:30-0:50 p.m.

(GMT+3, Moscow)

Genetic counselling in Armenia

Natella Kostandyan

Center for Medical Genetics and Primary Health Care, , Yerevan State Medical University

Yerevan, Armenia

1:50-2:20 p.m.

(GMT+4, Tbilisi)


0:50-1:20 p.m.

(GMT+3, Moscow)

Laboratory diagnosis of Fabry disease

*with the support of Petrovax

Ekaterina Zakharova

MD,PhD, Research Centre of Medical Genetics

Moscow, Russia

2:20-2:30 p.m.

(GMT+4, Tbilisi)


1:20-1:30 p.m.

(GMT+3, Moscow)

Discussion
All participants

2:30-3:00 p.m.

(GMT+4, Tbilisi)


1:30-2:00 p.m.

(GMT+3, Moscow)

Lunch Break

Section №2


Early-Stage Therapies

Chairman

Nato Vashakmadze

Dodo Agladze

3:00-3:20 p.m.

(GMT+4, Tbilisi)


2:00-2:20 p.m.

(GMT+3, Moscow)

Dietary Therapy in Metabolic Disorders Detected by newborn screening

Natalia Pechatnikova

Carmel Medical Center
Haifa, Israel

"Morozovskaya City Clinical Hospital"
Moscow, Russia

3:20-3:40 p.m.

(GMT+4, Tbilisi)


2:20-3:40 p.m.

(GMT+3, Moscow)

Therapeutic Advances in Immunodeficiency Management

Yulia Rodina

Federal State Budgetary Institution "National Medical Research Center of Dmitry Rogachev"

Moscow, Russia

3:40-4:00 p.m.

(GMT+4, Tbilisi)


2:40-3:00 p.m.

(GMT+3, Moscow)

Phenylketonuria Treatment: Beyond Diet – The Role of Tetrahydrobiopterin
Dodo Agladze
Center for Medical Genetics and Laboratory Diagnostics

Tbilisi, Georgia

4:00-4:10 p.m.

(GMT+4, Tbilisi)


3:00-3:10 p.m.

(GMT+3, Moscow)

Coffee Break

4:10-4:30 p.m.

(GMT+4, Tbilisi)


3:10-3:30 p.m.

(GMT+3, Moscow)

Early Treatment Approaches for Congenital Adrenal Hyperplasia

Maria Kareva

MD, Tel Aviv Sourasky Medical Center - Ichilov

Tel Aviv, Israel

4:30-4:50 p.m.

(GMT+4, Tbilisi)


3:30-3:50 p.m.

(GMT+3, Moscow)

Current Therapies for Lysosomal Storage Diseases

Anna Tylki-Szymańska

MD, Professor, Children's Memorial Health Institute

Warsaw, Poland

4:50-5:20 p.m.

(GMT+4, Tbilisi)


3:50-4:20 p.m.

(GMT+3, Moscow)

Alfa-mannosidosis: diagnosis and treatment

*with the support of Chiesi

Nato Vashakmadze

MD, Professor, Russian Scientific Center of Surgery named after Academician B.V. Petrovsky

Moscow, Russia

5:20-5:50 p.m.

(GMT+4, Tbilisi)


4:20-4:50 p.m.

(GMT+3, Moscow)

Duchenne muscular dystrophy: clinical features and diagnostics of the disease

*with the support of PTC Therapeutics

Tatiana Kekeeva

"Morozovskaya City Clinical Hospital"

Moscow, Russia

5:50-6:10 p.m.

(GMT+4, Tbilisi)


4:50-5:10 p.m.

(GMT+3, Moscow)

Small molecules, pharmacological chaperones, for the treatment of lysosomal storage diseases

Sofia Pchelina

PhD, Pavlov First Saint Petersburg State Medical University, Institute of Nuclear Physics of the Kurchatov Institute

Saint-Petersburg,Russia

6:10-6:20 p.m.

(GMT+4, Tbilisi)


5:10-5:20 p.m.

(GMT+3, Moscow)

Q&A session
All participants

6:20-6:30 p.m.

(GMT+4, Tbilisi)


5:20-5:30 p.m.

(GMT+3, Moscow)

Closing Remarks
All participants
Saturday, April 12th

Round table

"Neonatal screening for rare diseases - difficulties and prospects"

Chairman

Vera Izhevskaya

Valentina Peterkova

Lali Margvelashvili

9:00-9:10 a.m.

(GMT+4, Tbilisi)


8:00-8:10 a.m.

(GMT+3, Moscow)

Opening Remarks

Lali Margvelashvili

MD, Center for Medical Genetics and Laboratory Diagnostics

Tbilisi, Georgia

9:10-9:30 a.m.

(GMT+4, Tbilisi)


8:10-8:30 a.m.

(GMT+3, Moscow)

Key Challenges in Neonatal Screening for Rare Diseases

Ekaterina Zakharova

MD, PhD, Research Centre of Medical Genetics

Moscow, Russia

9:30-9:50 a.m.

(GMT+4, Tbilisi)


8:30-8:50 a.m.

(GMT+3, Moscow)

Ethical Aspects of Genetic Testing

Vera Izhevskaya

MD, Research Centre for Medical Genetics

Moscow, Russia

9:50-10:20 a.m.

(GMT+4, Tbilisi)


8:50-9:20 a.m.

(GMT+3, Moscow)

Coffee Break

10:20-10:40 a.m.

(GMT+4, Tbilisi)


9:20-9:40 a.m.

(GMT+3, Moscow)

Advanced diagnostic methods in molecular genetics and cytogenomics

Alin Ayvaz

Center for Medical Genetics and Primary Health Care, Yerevan State Medical University

Yerevan, Armenia

10:40-11:00 a.m.

(GMT+4, Tbilisi)


09:40-10:00 a.m.

(GMT+3, Moscow)

Genetic Screening: Experience from Belarus

Oksana Pribushenya

MD, PhD, "Mother and Child" Republican Scientific and Practical Center

Minsk, Belarus

11:00-11:20 a.m.

(GMT+4, Tbilisi)


10:00-10:20 a.m.

(GMT+3, Moscow)

Genetic Screening: Experience from Kazakhstan

Gulnara Svyatova

MD,PhD, Republican Medical and Genetic Consultation of the Scientific Center for Obstetrics, Gynecology and Perinatology, Association of Medical Geneticists of Kazakhstan

Almaty, Kazakhstan

11:20-11:40 a.m.

(GMT+4, Tbilisi)


10:20-10:40 a.m.

(GMT+3, Moscow)

Quality Control at All Stages of Screening

Galina Baydakova

PhD, Research Centre of Medical Genetics

Moscow, Russia

11:40-11:50 a.m.

(GMT+4, Tbilisi)


10:40-10:50 a.m.

(GMT+3, Moscow)

Discussion

11:50-12:00 p.m.

(GMT+4, Tbilisi)


10:50-11:00 a.m.

(GMT+3, Moscow)

Coffee Break

0:00-0:20 p.m.

(GMT+4, Tbilisi)


11:00-11:20 a.m.

(GMT+3, Moscow)

Educational Programs for Specialist Training

Tatiana Kekeeva

"Morozovskaya City Clinical Hospital"

Moscow, Russia

0:20-0:40 p.m.

(GMT+4, Tbilisi)


11:20-11:40 a.m.

(GMT+3, Moscow)

Informing Families About Screening Results

Yulia Rodina

PhD, Federal State Budgetary Institution "National Medical Research Center of Dmitry Rogachev"

Moscow, Russia

0:40-1:00 p.m.

(GMT+4, Tbilisi)


11:40-12:00 p.m.

(GMT+3, Moscow)

Prospects for Carrier Screening of Hereditary Diseases

Lena Sagi-Dain

MD, Carmel Medical Center

Haifa, Israel

1:00-1:20 p.m.

(GMT+4, Tbilisi)


0:00-0:20 p.m.

(GMT+3, Moscow)

Prospects for Expanding Neonatal Screening

Natalia Pechatnikova

Carmel Medical Center
Haifa,Israel
"Morozovskaya City Clinical Hospital"
Moscow, Russia

1:20-1:40 p.m.

(GMT+4, Tbilisi)


0:20-0:40 p.m.

(GMT+3, Moscow)

Neonatal Screening for Immunodeficiencies: Challenges, Advances, and Future Directions

Anna Mukhina

PhD, Federal State Budgetary Institution "Dmitry Rogachev National Medical Research Center for Pediatric Hematology and Oncology"

Moscow, Russia

1:40-2:00 p.m.

(GMT+4, Tbilisi)


0:40-1:00 p.m.

(GMT+3, Moscow)

Neonatal Screening for Endocrine Disorders: Current Practices, Challenges, and Innovations

Valentina Peterkova

MD, Academician of the Russian Academy of Sciences, "Endocrinology Research Center"

Moscow, Russia

2:00-3:00 p.m.

(GMT+4, Tbilisi)


1:00-2:00 p.m.

(GMT+3, Moscow)

Lunch Break

3:00-3:20 p.m.

(GMT+4, Tbilisi)


2:00-2:20 p.m.

(GMT+3, Moscow)

Neonatal Screening for lysosomal storage Disorders

Sofia Pchelina

PhD, Pavlov First Saint Petersburg State Medical University, Institute of Nuclear Physics of the Kurchatov Institute

Saint-Petersburg, Russia

3:20-3:40 p.m.

(GMT+4, Tbilisi)


2:20-2:40 p.m.

(GMT+3, Moscow)

Next-Generation Sequencing in Neonatal Screening: Revolutionizing Early Diagnosis of Genetic and Metabolic Disorders

Andrei Marakhonov

PhD, Research Centre of Medical Genetics

Moscow, Russia

3:40-4:00 p.m.

(GMT+4, Tbilisi)


2:40-3:00 p.m.

(GMT+3, Moscow)

Neonatal Screening: A Brighter Future for Families

Nato Vashakmadze

MD, Professor, "Russian Scientific Center of Surgery named after Academician B.V. Petrovsky"

Moscow, Russia

4:00-4:10 p.m.

(GMT+4, Tbilisi)


3:00-3:10 p.m.

(GMT+3, Moscow)

Diagnosis and treatment of gaucher's disease

Elena Lapotentova

State Institution "RSPC of Pediatric Oncology, Hematology and Immunology“

Minsk, Belarus

4:10-4:20 p.m.

(GMT+4, Tbilisi)


3:10-3:20 p.m.

(GMT+3, Moscow)

Medical and genetic counseling of families based on the results of neonatal screening

Olga Smirnova

Moscow Regional Research Institute of Obstetrics and Gynecology" ("MONIIAG")

Moscow, Russia

4:20-4:40 p.m.

(GMT+4, Tbilisi)


3:20-3:40 p.m.

(GMT+3, Moscow)

Discussion

All Participants

4:40-5:00 p.m.

(GMT+4, Tbilisi)


3:40-4:00 p.m.

(GMT+3, Moscow)

Summary and Closing

All Participants

LOCATION
Holiday Inn Tbilisi
Adjara Conference Hall

1, 26 May Square

Tbilisi, Georgia, 0171

Event organizers
Event sponsors