Alessandra Cremaschi

Assisted Reproductive Technology (ART) and neurodevelopmental disorders: is there an association?

Another hot question for Geneticists, Andrologists and Gynecologists: does Assisted Reproductive Technology (ART) increase the risk for neurodevelopmental disorders in newborns? The common conception is that, especially when doing Intra-Cytoplasmic Sperm Injection (ICSI), the natural barriers are skipped by the technology and abnormal germline cells (sperm or oocytes) that would be normally depleted, for instance

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Genetic testing in recurrent pregnancy loss: when and which

Recurrent pregnancy loss (RPL): definition and causes Of all the clinically recognized pregnancies, about 15% end in a miscarriage, making this event one of the most common adverse events. Unfortunately, about 2-5% of couples take on recurrent pregnancy loss (RPL). However, “Recurrent pregnancy loss” definition, which according to the European Society of Human Reproduction and

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Sequencing machines: Roche 454

The first NGS platform Talking about the system of the Roche 454 means starting from the dawn of Next Generation Sequencing. The first three Next Generation Sequencing (NGS) platforms were produced by three independent companies which, a little later, were acquired by other industrial groups. System 454 is based on pyrosequencing, a technique based on

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Genomic imprinting: 10 questions and 10 answers

An epigenetic event Genomic imprinting, although very studied, has many dark sides, even among healthcare professionals. Here are 10 frequently asked questions with relative answers on this phenomenon. 1. What is genomic imprinting? Genomic imprinting is an epigenetic process that modifies the DNA molecule without changing its nucleotide sequence. Regulator mechanisms of imprinting are not

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Autosomal dominant inheritance

From parent to child Autosomal dominant inheritance happens when a genetic disorder is caused by a mutation in only one of the two copies of a gene (the paternal or the maternal one). In autosomal dominant inheritance, the disorder is transmitted from the parent to the offspring, but the parents can sometimes be clinically healthy

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Mitochondrial genome

Only 37 genes Mitochondrial genome is contained in mitochondria, organelles responsible for cellular respiration. It is a small circular molecule present in a high number of copies. Mitochondrial genome has only 37 genes: 24 encode for transfer-RNA (tRNA) and ribosomal RNA (rRNA), while the other 13 genes are protein-coding. About 93% of mitochondrial DNA sequence

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Mitochondrial inheritance

mtDNA mutations Genetic disorders with mitochondrial inheritance are those caused by mutations in the mitochondrial DNA. Mitochondrial DNA (often shorten to mtDNA) is contained in mitochondria, which are small organelles whose task is cellular respiration. An unknown number of chromosomes Mitochondrial DNA is made of many small circular double-stranded DNA molecules, called mitochondrial chromosomes (if

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Inherited, genetic and congenital disorders

What’s the difference? Which is the difference between inherited, genetic and congenital disorders? We often hear about hereditary and/or genetic and/or congenital disorders. Unfortunately, these terms are often confused or, even worse, used interchangeably. A hereditary disorder is certainly genetic: indeed, it can be defined as a disease caused by a genetic mutation that has

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10 frequently asked question about mitochondrial inheritance

Here are some frequently asked questions (and their answers) about mitochondrial inheritance. For a general introduction to the topic you can read Mitochondrial Inheritance and Mitochondrial Genome. 1. Is mitochondrial DNA exclusively of maternal origin? Mitochondrial DNA is of almost exclusively maternal origin, even if a very little amount, clinically irrelevant and without any implication

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Autosomal recessive inheritance

Two mutated alleles Autosomal recessive inheritance is defined as the manifestation of disease only when both the copies of a gene (maternal and paternal) are mutated. In other words, it is necessary that the final protein is quantitatively or qualitatively impaired in double dose. In autosomal recessive inheritance, parents are typically healthy carriers of a

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Whole genome sequencing

Whole sequencing of human DNA Whole-genome sequencing (WGS) consists of the sequencing of the entire genome, i.e, of all the human DNA contained in the cell nucleus (about 3 billion nucleotides). With this technique, both coding and non-coding regions of the DNA are sequenced. As such, therefore, whole-genome sequencing includes whole-exome sequencing (i.e. of all coding

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Familial non-Hodgkin lymphoma

Non-Hodgkin lymphoma (NHL) is an immunological cancer developing from lymphocytes. It mainly manifests as painless surface lymph nodes swelling (neck, armpit, groin), but sometimes it can also occur in the digestive system, in the central nervous system, in the bone marrow or in the skin. Several histopathological subtypes exist, which can only be differentiated on the

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Bone marrow failure

Panel testing recommended at Breda Genetics for this condition: Bone marrow failure (BRCA2, BRIP1, ERCC4, PALB2, RAD51C, SLX4, AK2, ANKRD26, ATM, ATR, ATRX, C15ORF41, CBL, CDAN1, CEBPA, CTC1, DKC1, ELANE, ETV6, FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ, FANCL, FANCM, FANCN, FANCO, FANCP, FANCQ, G6PC3, GATA1, GATA2, GFI1, HAX1, JAGN1, LIG4, MPL, NBN, NHP2,

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lcnRNA: long non-coding RNA

Does non-coding RNA exist? What do they need? How many types are known? lncRNA is an acronym of long non-coding RNA. lncRNAs, as well as miRNAs, siRNA, aRNA, piwiRNA and other types of RNA, belong to the group on non-coding RNAs (ncRNA). Although their action mechanisms remain poorly understood, their pivotal role in several biological

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Polycystic kidney disease

Panel testing recommended at Breda Genetics for this condition: Pan29 – Polycystic kidney disease and differential diagnosis, extended (DNAJB11, DZIP1L, GANAB, HNF1B, LRP5, MUC1, PAX2, PKD1, PKD2, PKHD1, PRKCSH, SEC61A1, SEC63, TSC1, TSC2, UMOD, VHL) Summary Polycystic kidney disease (PKD) is a rare genetic disorder characterized by the development of cysts in the kidneys. Cysts are fluid-filled

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Sudden death

Panel testing recommended at Breda Genetics for this condition: Sudden death (ABCC9, ACTN2, AKAP9, ANK2, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CASQ2, CAV3, CSRP3, DES, DPP6, DSC2, DSG2, DSP, DTNA, FBN1, FGF12, GJA5, GPD1L, CN4, JPH2, JUP, KCNA5, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, LAMP2, LDB3, LMNA, LRP6, MYBPC3, MYH6, MYH7, MYL2, MYL3,

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Maple syrup urine disease

Panel testing recommended at Breda Genetics for this condition: Maple syrup urine disease (BCKDHA, BCKDHB, DBT, DLD) Summary Maple syrup urine disease (MSUD) is an autosomal recessive rare genetic disease caused by a defect in the branched-chain alpha-keto acid dehydrogenase enzyme (BCKAD), which represents the key step in the catabolism of branched-chain amino acids. The classic form is

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Dyskeratosis congenita

Panel testing recommended at Breda Genetics for this condition: Congenital dyskeratosis and differential diagnosis (ACD, CTC1, DKC1, NHP2, NOP10, PARN, POT1, RETL1, SNORD118, TERC, TERT, TINF2, WRAP53) Summary Dyskeratosis congenita (DC), also called Zinsser-Cole-Engman syndrome, is a multisystem disorder due to telomere loss. All affected individuals have a telomeric shortening increased in relation to age. The disease

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Factor V Leiden: all the answers

Factor V of Leiden and thrombophilia: how many questions! What is Factor V Leiden? If I have the Factor V Leiden, have I a higher risk for deep veins thrombosis? Am I at risk of miscarriage with factor V Leiden? The factor V Leiden has been extensively studied in recent years. In the face of

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