Category Archives: Infant

Newborn Screening Symposium- September, 2012

FOGSI Perinatology Committee and the Association of Fellow Gynecolgists are hosting the 1st Newborn Screening Symposium in India- Newborn Screening- Let’s make a start!, at Kokilaben Dhirubhai Ambani Hospital, Mumbai on September 30, 2012.  NeoGen Labs is a strong supporter of Newborn Screening in India and … Continue reading

Posted in Congenital Disorders, Genetic Disorders, IEM, Inborn Errors of Metabolism, inborn metabolic syndrome, Infant, Infant Deaths in India, Infant Mortality rate, inherited disorders, metabolic disease, Metabolic Disorders, Neonatal Screening, Newborn, Newborn Deaths, Newborn Screening, Newborn Screening India, Newborn Screening Indian babies, Newborn Screening month, Newborn Screening symposium, rare disease, rare disease. rare disorders, rare disorders, Robert Guthrie | Tagged , , , , , , , , , , , , , , , , , , , , , | 1,540 Comments

Dr. Robert Guthrie – “Father” Of Mass Newborn Screening

When we discuss about people who have left the deepest mark in phenylketonuria disorder history, two names notably stand out – Dr. Ivar Asbjørn Følling, who discovered PKU, and Dr. Robert Guthrie, the man who made the first practical PKU screening test. While … Continue reading

Posted in Congenital Disorders, Dr. Guthrie, Dr. Robert Guthrie, Dried Blood Spot, Galactosemia, GALT, Genetic Disorders, genetic mutation, Guthrie, Guthrie test, IEM, IMD, Inborn Errors of Metabolism, inborn metabolic syndrome, Infant, inherited disorders, maple syrup urine disease, metabolic disease, Metabolic Disorders, Neonatal Screening, Newborn, Newborn Screening, Newborns, Phenylketonuria, PKU, rare disease, rare disease. rare disorders, Robert Guthrie, Tandem Mass Spectrometry | Tagged , , , , , , , , , , , , , , , , , , , , , , , , , , , , | 1,446 Comments

Preconception and prenatal genetic testing, Newborn Screening of rare diseases : How to empower individuals and support personal and voluntary decisions?

Rare diseases are chronic, severe, sometimes life threatening, always costly for the health care and social systems. Prenatal genetic testing and screening are currently proposed to future parents for a number of diseases, and newborn screening is performed after birth … Continue reading

Posted in BIOT, Biotin Deficiency, Biotinidase, Bubble Boy disease, CAH, CF, CH, Congenital Adrenal Hyperplasia, Congenital Adrenal Hyperplasim, Congenital Disorders, Congenital Hypothyroidism, Congenital Hypothyroidism, Cystic Fibrosis, Dried Blood Spot, Galactosemia, GALT, Genetic Disorders, genetic mutation, Hearing Newborn Screening, IEM, IMD, Inborn Errors of Metabolism, inborn metabolic syndrome, Infant, inherited disorders, metabolic disease, Metabolic Disorders, methylmalonic acidemia, Methylmalonic Acidemia (MMA), Neonatal Screening, Newborn, Newborn Screening, Newborns, rare disease, rare disease. rare disorders, rare disorders, SCID, Severe Combined ImmunoDeficiency, Tandem Mass Spectrometry, thyroid hormone deficiency | Tagged , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , | 1,802 Comments

Low Awareness Costs Big to SCD Kids

Payal Gwalani, TNN Jun 24, 2012, 01.07AM IST NAGPUR: Till she turned eight, Devanand Ubale of Jalgaon did not even know his daughter suffered from sickle cell disease. The little girl kept battling various discomforts that come with the condition, and … Continue reading

Posted in abnormal hemoglobin, beta thalassemia, beta thalassemias, Blood disorders, bone marrow, Congenital Disorders, Cord Blood, Cord Blood Stem Cells, defective beta-globin gene, Dried Blood Spot, Genetic Disorders, hemoglobin, Hemoglobin electrophoresis, Hemoglobinopathies, Hemolytic anemia, high performance liquid chromatography, Infant, Infant Deaths in India, inherited disorders, Neonatal Screening, Neonatal Screening for Sickle Cell, Newborn, Newborn Deaths, Newborn Screening, Newborn Screening India, Newborn Screening Indian babies, Newborns, rare disease, rare disease. rare disorders, rare disorders, red blood cells, Sickle Cell Anemia, Sickle cell beta thalassemia, Sickle Cell Disease, Sickle Cell in India, sickled cells, Sickling diseases, Sickling hemoglobinopathies, Stem Cell Bank, Stem Cell Transplant, Stem Cell Transplants, thalassemia | Tagged , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , | 2,356 Comments

Sickle Shaped Threat

Sickle cell anaemia is a rare genetic blood disorder which may cause body pains and if not treated at the right time could prove to be fatal Your child has been suffering from immense pain and weakness. If you have … Continue reading

Posted in abnormal hemoglobin, beta thalassemia, beta thalassemias, Blood disorders, bone marrow, Congenital Disorders, Cord Blood, Cord Blood Stem Cells, defective beta-globin gene, Dried Blood Spot, Genetic Disorders, genetic mutation, hemoglobin, Hemoglobinopathies, Infant, Infant Deaths in India, Infant Mortality rate, inherited disorders, Neonatal Screening, Neonatal Screening for Sickle Cell, Newborn, Newborn Deaths, Newborn Screening, Newborn Screening India, Newborn Screening Indian babies, Newborns, Penicillin prophylaxis, rare disease, rare disease. rare disorders, rare disorders, red blood cells, sepsis, Sickle Cell Anemia, Sickle cell beta thalassemia, Sickle Cell Disease, Sickle Cell in India, sickled cells, Sickling diseases, Sickling hemoglobinopathies, Stem Cell Bank, Stem Cell Transplant, Stem Cell Transplants, thalassemia | Tagged , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , | 644 Comments

Know about Newborn Screening before your baby arrives

This could be one of the most important things to learn before your precious baby arrives.  Don’t be like me;  I – lucky beyond belief – learned about newborn screening last minute in the hospital after Alena was born.  The … Continue reading

Posted in Congenital Disorders, Dried Blood Spot, Galactosemia, GALT, Genetic Disorders, IEM, IMD, Inborn Errors of Metabolism, inborn metabolic syndrome, Infant, inherited disorders, metabolic disease, Metabolic Disorders, Neonatal Screening, Newborn, Newborn Screening, Newborns, rare disease, rare disease. rare disorders, rare disorders, Save Babies, Save Babies Through Screening, Save Babies Through Screening Foundation, SBTS, Tandem Mass Spectrometry | Tagged , , , , , , , , , , , , , , , , , , , , , , , , | 1,727 Comments

Sickle Cell Beta Thalassemia Disease – Information for Physicians and Other Health Care Providers

Definition Sickling hemoglobinopathies are inherited disorders that result in production of an abnormal form of hemoglobin. Beta thalassemias are inherited disorders that result in the decreased synthesis or complete absence of the beta globin chains of hemoglobin. Sickle cell beta … Continue reading

Posted in abnormal hemoglobin, beta thalassemia, beta thalassemias, Blood disorders, bone marrow, Congenital Disorders, Cord Blood, Cord Blood Stem Cells, defective beta-globin gene, Dried Blood Spot, Genetic Disorders, genetic mutation, hemoglobin, Hemoglobin electrophoresis, Hemoglobinopathies, Hemolytic anemia, high performance liquid chromatography, Infant, inherited disorders, Neonatal Screening, Neonatal Screening for Sickle Cell, Newborn, Newborn Screening, Newborn Screening India, Newborns, Penicillin prophylaxis, rare disease, rare disease. rare disorders, rare disorders, red blood cells, Save Babies Through Screening, Save Babies Through Screening Foundation, SBTS, sepsis, Sickle Cell Anemia, Sickle cell beta thalassemia, Sickle Cell Disease, Sickle Cell in India, sickled cells, Sickling diseases, Sickling hemoglobinopathies, Stem Cell Bank, thalassemia | Tagged , , , , , , , , , , , , , , , , , | 823 Comments

Qatar soon to have Newborn Screening programme

Tuesday, 6 March, 2012 By Huda NV DOHA: Qatar is set to establish a newborn screening project to identify children born with severe immune deficiency. The project in collaboration with the Heidelberg University Hospital will begin by the end of … Continue reading

Posted in CAH, CH, Congenital Adrenal Hyperplasim, Congenital Disorders, Congenital Hypothyroidism, Dried Blood Spot, Genetic Disorders, IEM, IMD, Inborn Errors of Metabolism, inborn metabolic syndrome, Infant, metabolic disease, Metabolic Disorders, Neonatal Screening, Newborn, Newborn Screening, Newborn Screening Qatar, Newborns, rare disease, rare disease. rare disorders, rare disorders | Tagged , , , , , , , , , , , , , , , , , , , , , | 1,113 Comments

Nehru Science Centre to celebrate international Rare Disease Day on Feb 29 in Mumbai

Monday, February 27, 2012, 15:45 Hrs  [IST] Nehru Science Centre, Mumbai, is going to celebrate Rare Disease Day with the afflicted patients suffering from Lysosomal Storage Disorders (LSDs) and geneticists from across the country comprising more than 100 patients/ parents, on … Continue reading

Posted in Congenital Disorders, Genetic Disorders, Inborn Errors of Metabolism, Infant, Infant Deaths in India, Infant Mortality rate, metabolic disease, Metabolic Disorders, Neonatal Screening, Newborn, Newborn Deaths, Newborns, rare disease, rare disease. rare disorders, rare disorders | Tagged , , , , , , , , , , , , , , | 1,039 Comments

New Website for NeoGen Labs, Newborn Screening in India

Thanks to all the readers, supporters and followers of our blog. We’ve launched a new website www.neogenlabs.com with details on our newborn screening test, metabolic disorders and other helpful information for Parents and Doctors. Given the lack of awareness and … Continue reading

Posted in Congenital Disorders, Dried Blood Spot, Genetic Disorders, Inborn Errors of Metabolism, Infant, Infant Deaths in India, Infant Mortality rate, metabolic disease, Metabolic Disorders, Neonatal Screening, Newborn, Newborn Screening, Newborns, rare disease, rare disease. rare disorders, rare disorders | Tagged , , , , , , , , , , , , , , , | 1,432 Comments