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Pre-implantation Genetic Testing in Inherited Metabolic Diseases? Stateof- the-art and current challenges
CONCLUSION: PGT is a reliable approach to reduce the risk of transmission of a genetic condition to the offspring. The list of IEM disorders currently accepted for this technique in Portugal are small, but it is expanding, as many more diseases fit the necessary criteria. While appealing in theory, low success rates coupled with limited availability can be discouraging for patients. Genetic counselling is of paramount importance after the diagnosis of IEM diseases. It is important for both clinicians and patients to be made aware of the available reproductive options and their limitations.PMID:38111111 | DOI:10.2174/011871...
Source: Endocrine, Metabolic and Immune Disorders Drug Targets - December 19, 2023 Category: Drugs & Pharmacology Authors: Ana Miguel Capela Ana Cunha Ana Maria Fortuna Cl áudia Falcão Reis Source Type: research

Pharmacogenetic Variants Can Influence Optical Medication Use
CONCLUSION: Knowledge on the drug mechanisms will affect the therapeutic response of patients treated with a given drug. Thus, pharmacogenetics is an essential tool in personalized medicine, since molecular studies allows the clinician to predict the probability of efficacy and toxicity of certain drugs, resulting higher efficiency in individualizing treatment and also improving the safety of the patient. From a personalized medicine perspective, the study of the characteristics of the drug and its metabolization site, the genes involved in the encoding of enzymes responsible for its metabolization will be of great interes...
Source: Endocrine, Metabolic and Immune Disorders Drug Targets - December 19, 2023 Category: Drugs & Pharmacology Authors: Diana Alves Filipa Ferreira Cristina Pereira Altina Lopes C élia Nogueira Laura Vilarinho Source Type: research

Challenges in Genetic Diagnosis of Mitochondrial Diseases: What Can Functional Genomics' Studies Do?
CONCLUSION: If specific functional results are similar to controls, one might inquire about the pathogenicity of the studied variant and more genetic or bioinformatics analyses and family investigations are needed. There are also limitations of NGS in mutation detection that Sanger sequencing can overcome (P1). When performed first, the OXPHOS activity may guide to genetic screening or interpretation, concordant to later assembly results. All cases were solved and data may be crucial for genetic counseling.PMID:38111113 | DOI:10.2174/0118715303273290231211062420 (Source: Endocrine, Metabolic and Immune Disorders Drug Targets)
Source: Endocrine, Metabolic and Immune Disorders Drug Targets - December 19, 2023 Category: Drugs & Pharmacology Authors: Marta Sim ões Maria Jo ão Santos Sara Martins Maria do Carmo Mac ário Jo ão Durães Lu ísa Diogo Jo ão Paulo Oliveira Jos é Carlos Ferreira Manuela Grazina Source Type: research

Increasing Sanfilippo Syndrome Awareness through Children's Literature and Music
Endocr Metab Immune Disord Drug Targets. 2023 Dec 18. doi: 10.2174/0118715303272345231211094632. Online ahead of print.ABSTRACTThere is an ongoing effort to increase rare disease awareness amongst healthcare providers. This front is important and can help to address several challenges faced by rare disease patients, such as lengthy diagnosis times, difficulty in finding adequate providers of medical services and experts, and adequate treatment if one exists. On another front, there is the need for awareness among citizens and their support in the advocacy for public policies towards rare disease patients and families. Awar...
Source: Endocrine, Metabolic and Immune Disorders Drug Targets - December 19, 2023 Category: Endocrinology Authors: Raquel Marques Rodrigo Carlson Guilhain Higonnet Source Type: research

Pre-implantation Genetic Testing in Inherited Metabolic Diseases? Stateof- the-art and current challenges
CONCLUSION: PGT is a reliable approach to reduce the risk of transmission of a genetic condition to the offspring. The list of IEM disorders currently accepted for this technique in Portugal are small, but it is expanding, as many more diseases fit the necessary criteria. While appealing in theory, low success rates coupled with limited availability can be discouraging for patients. Genetic counselling is of paramount importance after the diagnosis of IEM diseases. It is important for both clinicians and patients to be made aware of the available reproductive options and their limitations.PMID:38111111 | DOI:10.2174/011871...
Source: Endocrine, Metabolic and Immune Disorders Drug Targets - December 19, 2023 Category: Endocrinology Authors: Ana Miguel Capela Ana Cunha Ana Maria Fortuna Cl áudia Falcão Reis Source Type: research

Pharmacogenetic Variants Can Influence Optical Medication Use
CONCLUSION: Knowledge on the drug mechanisms will affect the therapeutic response of patients treated with a given drug. Thus, pharmacogenetics is an essential tool in personalized medicine, since molecular studies allows the clinician to predict the probability of efficacy and toxicity of certain drugs, resulting higher efficiency in individualizing treatment and also improving the safety of the patient. From a personalized medicine perspective, the study of the characteristics of the drug and its metabolization site, the genes involved in the encoding of enzymes responsible for its metabolization will be of great interes...
Source: Endocrine, Metabolic and Immune Disorders Drug Targets - December 19, 2023 Category: Endocrinology Authors: Diana Alves Filipa Ferreira Cristina Pereira Altina Lopes C élia Nogueira Laura Vilarinho Source Type: research

Challenges in Genetic Diagnosis of Mitochondrial Diseases: What Can Functional Genomics' Studies Do?
CONCLUSION: If specific functional results are similar to controls, one might inquire about the pathogenicity of the studied variant and more genetic or bioinformatics analyses and family investigations are needed. There are also limitations of NGS in mutation detection that Sanger sequencing can overcome (P1). When performed first, the OXPHOS activity may guide to genetic screening or interpretation, concordant to later assembly results. All cases were solved and data may be crucial for genetic counseling.PMID:38111113 | DOI:10.2174/0118715303273290231211062420 (Source: Endocrine, Metabolic and Immune Disorders Drug Targets)
Source: Endocrine, Metabolic and Immune Disorders Drug Targets - December 19, 2023 Category: Endocrinology Authors: Marta Sim ões Maria Jo ão Santos Sara Martins Maria do Carmo Mac ário Jo ão Durães Lu ísa Diogo Jo ão Paulo Oliveira Jos é Carlos Ferreira Manuela Grazina Source Type: research

Increasing Sanfilippo Syndrome Awareness through Children's Literature and Music
Endocr Metab Immune Disord Drug Targets. 2023 Dec 18. doi: 10.2174/0118715303272345231211094632. Online ahead of print.ABSTRACTThere is an ongoing effort to increase rare disease awareness amongst healthcare providers. This front is important and can help to address several challenges faced by rare disease patients, such as lengthy diagnosis times, difficulty in finding adequate providers of medical services and experts, and adequate treatment if one exists. On another front, there is the need for awareness among citizens and their support in the advocacy for public policies towards rare disease patients and families. Awar...
Source: Endocrine, Metabolic and Immune Disorders Drug Targets - December 19, 2023 Category: Drugs & Pharmacology Authors: Raquel Marques Rodrigo Carlson Guilhain Higonnet Source Type: research

Pre-implantation Genetic Testing in Inherited Metabolic Diseases? Stateof- the-art and current challenges
CONCLUSION: PGT is a reliable approach to reduce the risk of transmission of a genetic condition to the offspring. The list of IEM disorders currently accepted for this technique in Portugal are small, but it is expanding, as many more diseases fit the necessary criteria. While appealing in theory, low success rates coupled with limited availability can be discouraging for patients. Genetic counselling is of paramount importance after the diagnosis of IEM diseases. It is important for both clinicians and patients to be made aware of the available reproductive options and their limitations.PMID:38111111 | DOI:10.2174/011871...
Source: Endocrine, Metabolic and Immune Disorders Drug Targets - December 19, 2023 Category: Drugs & Pharmacology Authors: Ana Miguel Capela Ana Cunha Ana Maria Fortuna Cl áudia Falcão Reis Source Type: research

Pharmacogenetic Variants Can Influence Optical Medication Use
CONCLUSION: Knowledge on the drug mechanisms will affect the therapeutic response of patients treated with a given drug. Thus, pharmacogenetics is an essential tool in personalized medicine, since molecular studies allows the clinician to predict the probability of efficacy and toxicity of certain drugs, resulting higher efficiency in individualizing treatment and also improving the safety of the patient. From a personalized medicine perspective, the study of the characteristics of the drug and its metabolization site, the genes involved in the encoding of enzymes responsible for its metabolization will be of great interes...
Source: Endocrine, Metabolic and Immune Disorders Drug Targets - December 19, 2023 Category: Drugs & Pharmacology Authors: Diana Alves Filipa Ferreira Cristina Pereira Altina Lopes C élia Nogueira Laura Vilarinho Source Type: research

Challenges in Genetic Diagnosis of Mitochondrial Diseases: What Can Functional Genomics' Studies Do?
CONCLUSION: If specific functional results are similar to controls, one might inquire about the pathogenicity of the studied variant and more genetic or bioinformatics analyses and family investigations are needed. There are also limitations of NGS in mutation detection that Sanger sequencing can overcome (P1). When performed first, the OXPHOS activity may guide to genetic screening or interpretation, concordant to later assembly results. All cases were solved and data may be crucial for genetic counseling.PMID:38111113 | DOI:10.2174/0118715303273290231211062420 (Source: Endocrine, Metabolic and Immune Disorders Drug Targets)
Source: Endocrine, Metabolic and Immune Disorders Drug Targets - December 19, 2023 Category: Drugs & Pharmacology Authors: Marta Sim ões Maria Jo ão Santos Sara Martins Maria do Carmo Mac ário Jo ão Durães Lu ísa Diogo Jo ão Paulo Oliveira Jos é Carlos Ferreira Manuela Grazina Source Type: research

Increasing Sanfilippo Syndrome Awareness through Children's Literature and Music
Endocr Metab Immune Disord Drug Targets. 2023 Dec 18. doi: 10.2174/0118715303272345231211094632. Online ahead of print.ABSTRACTThere is an ongoing effort to increase rare disease awareness amongst healthcare providers. This front is important and can help to address several challenges faced by rare disease patients, such as lengthy diagnosis times, difficulty in finding adequate providers of medical services and experts, and adequate treatment if one exists. On another front, there is the need for awareness among citizens and their support in the advocacy for public policies towards rare disease patients and families. Awar...
Source: Endocrine, Metabolic and Immune Disorders Drug Targets - December 19, 2023 Category: Endocrinology Authors: Raquel Marques Rodrigo Carlson Guilhain Higonnet Source Type: research

Pre-implantation Genetic Testing in Inherited Metabolic Diseases? Stateof- the-art and current challenges
CONCLUSION: PGT is a reliable approach to reduce the risk of transmission of a genetic condition to the offspring. The list of IEM disorders currently accepted for this technique in Portugal are small, but it is expanding, as many more diseases fit the necessary criteria. While appealing in theory, low success rates coupled with limited availability can be discouraging for patients. Genetic counselling is of paramount importance after the diagnosis of IEM diseases. It is important for both clinicians and patients to be made aware of the available reproductive options and their limitations.PMID:38111111 | DOI:10.2174/011871...
Source: Endocrine, Metabolic and Immune Disorders Drug Targets - December 19, 2023 Category: Endocrinology Authors: Ana Miguel Capela Ana Cunha Ana Maria Fortuna Cl áudia Falcão Reis Source Type: research

Pharmacogenetic Variants Can Influence Optical Medication Use
CONCLUSION: Knowledge on the drug mechanisms will affect the therapeutic response of patients treated with a given drug. Thus, pharmacogenetics is an essential tool in personalized medicine, since molecular studies allows the clinician to predict the probability of efficacy and toxicity of certain drugs, resulting higher efficiency in individualizing treatment and also improving the safety of the patient. From a personalized medicine perspective, the study of the characteristics of the drug and its metabolization site, the genes involved in the encoding of enzymes responsible for its metabolization will be of great interes...
Source: Endocrine, Metabolic and Immune Disorders Drug Targets - December 19, 2023 Category: Endocrinology Authors: Diana Alves Filipa Ferreira Cristina Pereira Altina Lopes C élia Nogueira Laura Vilarinho Source Type: research

Challenges in Genetic Diagnosis of Mitochondrial Diseases: What Can Functional Genomics' Studies Do?
CONCLUSION: If specific functional results are similar to controls, one might inquire about the pathogenicity of the studied variant and more genetic or bioinformatics analyses and family investigations are needed. There are also limitations of NGS in mutation detection that Sanger sequencing can overcome (P1). When performed first, the OXPHOS activity may guide to genetic screening or interpretation, concordant to later assembly results. All cases were solved and data may be crucial for genetic counseling.PMID:38111113 | DOI:10.2174/0118715303273290231211062420 (Source: Endocrine, Metabolic and Immune Disorders Drug Targets)
Source: Endocrine, Metabolic and Immune Disorders Drug Targets - December 19, 2023 Category: Endocrinology Authors: Marta Sim ões Maria Jo ão Santos Sara Martins Maria do Carmo Mac ário Jo ão Durães Lu ísa Diogo Jo ão Paulo Oliveira Jos é Carlos Ferreira Manuela Grazina Source Type: research