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#01
Neurogenetics
Somatic mosaic genetics in neurological disorders
Dr. Christopher Walsh
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#02
AI & Diagnostics
Artificial Intelligence Algorithms in Practice: Shortening the Diagnostic Odyssey in Rare Diseases
Dr. Karen Gripp
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#03
Neurogenetics & Rare Diseases
A founder variant in TBCB causes spastic paraplegia and autism spectrum – the path from a single family to a new syndrome
Dr. Karin Weiss
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#04
Neurogenetics
Convergent genetics of autism spectrum disorders
Dr. Christopher Walsh
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#05
Skeletal Dysplasia
Progress made in the diagnosis and care of rare skeletal disorders
Dr. Geert R. W. Mortier
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#06
Skeletal Dysplasia
Discovering rare skeletal dysplasias in India
Dr. Katta Mohan Girisha
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#07
Reproductive Genomics
Emerging technologies in reproductive genomics
Dr. Brynn Levy
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#08
Prenatal Exome
Uncertainities in prenatal exome sequencing
Dr. Antoni Borrell
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#09
Prenatal Diagnostics
Whole Genome sequencing vs Chromosomal Microarray in PND
Dr. Vaidehi Jobanputra
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#10
Cardiogenetics
Owner of a Lonely Heart: Genetic Testing in Congenital Heart Disease
Dr. Edwin Kirk
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#11
Therapeutics & Modelling
From Disease Modelling to Therapeutic Discovery in Rare Disorders
Dr. Aarti Sevilimedu
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#12
Antisense Technology
Vast therapeutic potential of antisense technology for rare genetic diseases
RN
Dr. Singh RN
Invited Speaker
#13
Genetics & Penetrance
CNVs, SNVs and Lenin's Brain: The Problem of Penetrance
Dr. Edwin Kirk
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#14
Long-Read Sequencing
Long-reads read sequencing in genetic diagnostics
Dr. Christian Gilissen
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#15
Gene Curation & Variant Interpretation
International efforts for gene curation and genome variant interpretation: advancing accurate rare disease diagnosis and precision genomics
Dr. Julia Foreman
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