Tag Archives: inborn metabolic syndrome

Newborns in India to be Screened for Neonatal Disorders

Sajimon P S, TNN Jul 10, 2012, 03.18AM IST ALAPPUZHA: The National Rural Health Mission (NRHM) is all set to start newborn-screening programmes in all government hospitals in the state. This is part of the mission’s bid to save newborn babies … Continue reading

Posted in Congenital Disorders, Dried Blood Spot, Genetic Disorders, IEM, Inborn Errors of Metabolism, inborn metabolic syndrome, Indian babies, inherited disorders, metabolic disease, Metabolic Disorders, Neonatal Screening, Newborn Screening, Newborn Screening in India, Newborn Screening India, Newborn Screening Indian babies, rare disease, rare disorders, Tandem Mass Spectrometry | Tagged , , , , , , , , , , , , , , , , , | 1,821 Comments

Neonatal screening ‘helps prevent impaired growth’

By Noimot Olayiwola/Staff Reporter The Neonatal Screening Programme in Qatar, established at the Hamad Medical Corporation nine years ago, has screened a total of 135,205 newborn babies for metabolic and endocrine diseases up to September this year, senior consultant and … Continue reading

Posted in BIOT, Biotin Deficiency, Biotinidase, Blood disorders, Bubble Boy disease, CF, CH, Congenital Adrenal Hyperplasia, Congenital Adrenal Hyperplasim, Congenital Disorders, Congenital Hypothyroidism, Cystic Fibrosis, Dried Blood Spot, Galactosemia, GALT, Genetic Disorders, IEM, Inborn Errors of Metabolism, inborn metabolic syndrome, inherited disorders, maple syrup urine disease, metabolic disease, Metabolic Disorders, methylmalonic acidemia, Methylmalonic Acidemia (MMA), Neonatal Screening for Sickle Cell, Newborn Screening, Newborn Screening in India, Newborn Screening India, Newborn Screening Indian babies, Newborn Screening Qatar, Perkin Elmer Genetics, Phenylketonuria, PKU, rare disease, rare disorders, SCID, Severe Combined ImmunoDeficiency, Tandem Mass Spectrometry, thyroid hormone deficiency | Tagged , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , | 2,581 Comments

A ‘heeling’ touch to ensure newborns’ healthy future

For months, Naresh and Natasha Pandit (name changed) couldn’t get over the sudden loss of their first child. The baby had suddenly passed away in the middle of the night without even as much as a whimper. So when the … Continue reading

Posted in BIOT, CAH, CF, CH, Congenital Disorders, Congenital Hypothyroidism, Cord Blood Stem Cells, Dried Blood Spot, GALT, Genetic Disorders, Goa, IEM, Inborn Errors of Metabolism, inborn metabolic syndrome, Infant Deaths in India, inherited disorders, metabolic disease, Metabolic Disorders, Neonatal Screening, Newborn, Newborn Screening, Newborn Screening in India, Newborn Screening India, Newborn Screening Indian babies, Newborn Screening symposium, Newborns, PKU, rare disease, rare disease. rare disorders, rare disorders, Tandem Mass Spectrometry | Tagged , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , | 2,189 Comments

Screening the genes

Low- and middle-income countries are catching up on the use of screening for birth defects. Jane Parry reports. Courtesy: World Health Organization. Original article by Jane Parry, available on http://www.who.int/bulletin/volumes/90/8/12-030812/en/ The application of genomic research to public health services in the last … Continue reading

Posted in Congenital Disorders, Genetic Disorders, genetic mutation, IEM, Inborn Errors of Metabolism, inborn metabolic syndrome, Infant Deaths in India, inherited disorders, metabolic disease, Metabolic Disorders, Neonatal Screening, Newborn, Newborn Deaths, Newborn Screening, Newborn Screening in India, Newborn Screening India, Newborn Screening Indian babies, rare disease, rare disease. rare disorders, rare disorders | Tagged , , , , , , , , , , , , , , , , , , , | 1,248 Comments

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

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

Leading Newborn Screening Organization Announces Partnership to Support Advocacy on Global Level

CINCINNATI, April 30, 2012 /PRNewswire/ – Save Babies Through Screening Foundation (SBTS), the only national volunteer-run nonprofit organization devoted exclusively to the advocacy of newborn screening (NBS), is pleased to announce a new partnership with World Solutions Against Infectious Diseases(WSAID). Since 2010, WSAID … Continue reading

Posted in Congenital Disorders, Dried Blood Spot, Genetic Disorders, IEM, IMD, Inborn Errors of Metabolism, inborn metabolic syndrome, metabolic disease, Metabolic Disorders, Newborn, Newborn Deaths, Newborn Screening, Newborn Screening Indian babies, Newborns, rare disease, rare disease. rare disorders, rare disorders, Save Babies Through Screening Foundation, Tandem Mass Spectrometry | Tagged , , , , , , , , , , , , , , , , , , | 1,196 Comments

To save a life, no amount is too much

Sanjana Praveen Shivanka is 20 months old and has severe combined immunodeficiency (SCID). The Sri Lankan ‘bubble baby’, suffered from a condition which forced him to live in a sterile environment as his immune system was seriously compromised. Like 16 … Continue reading

Posted in Born Marrow, Bubble Boy disease, Congenital Disorders, Cord Blood, Cord Blood Stem Cells, Dried Blood Spot, Genetic Disorders, Inborn Errors of Metabolism, inborn metabolic syndrome, metabolic disease, Metabolic Disorders, Neonatal Screening, Newborn, Newborn Screening, Newborns, rare disease, rare disease. rare disorders, rare disorders, SCID, Severe Combined ImmunoDeficiency, Stem Cell Bank, Stem Cell Transplant, Stem Cell Transplants, Tandem Mass Spectrometry | Tagged , , , , , , , , , , , , , , , , , , , , , , , , , , , , , | 2,341 Comments