She finally had a baby naturally — with a 24-year-old frozen embryo.

When Tina Gibson got married seven years ago, she knew it was unlikely that she would have children naturally. Her husband, 33-year-old Benjamin Gibson, had cystic fibrosis, a condition that can make men infertile, the couple told CNN. The East Tennessee couple decided they would eventually adopt a child instead — and that they would foster several children […]Related:FDA approves first gene therapy for an inherited diseaseThis model lost a leg because of an infection from tampons. Here’s what she wants you to know.Debate erupts within HHS about ‘words to avoid’ such as ‘vulnerable,’ ‘diversity’ and ‘entitlement’
Source: Washington Post: To Your Health - Category: Consumer Health News Source Type: news

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Background: The CFTR gene is responsible for the autosomal recessive disease Cystic Fibrosis (CF) and CFTR-related disorders (CFTR-RD). More than 2000 variants have been reported. However, the CFTR genotype remains incomplete (with one or none disease-causing variants) in 1% of CF typical cases and even more in CFTR-RD.Aims and Objectives: To find the second disease causing-variant in unsolved cases of CF and CFTR-RD with new methods and assess their biological impact.Methods: We looked for deep intronic variants by studying the whole CFTR locus by Next Generation Sequencing. Impact of variants on splicing was confirmed by...
Source: European Respiratory Journal - Category: Respiratory Medicine Authors: Tags: Cystic fibrosis Source Type: research
We describe a man with history of infertility and recurrent bronchitis who was diagnosed with CF at age 69.
Source: Annals of Allergy, Asthma and Immunology - Category: Allergy & Immunology Authors: Tags: M209 Source Type: research
Cystic fibrosis (CF) is an autosomal recessive genetic disorder resulting from a mutation in the gene which encodes a cellular transmembrane protein channel known as the CF transmembrane conductance regulator. Located systemically on the surface of numerous cells, these altered channels yield multisystem dysfunction. Typical manifestations seen are chronic, progressive, obstructive lung disease, pancreatic insufficiency, CF-related diabetes mellitus, malabsorption and malnutrition, liver disease, and infertility.
Source: Journal of Pediatric Health Care - Category: Pediatrics Authors: Tags: Article Source Type: research
The “mild” gene variant, p.Arg117His in cystic fibrosis (CF) results in highly variable phenotypes ranging from male infertility to severe lung disease. Due to current interest to include this group in CFTR-targeted therapies, this study aims to describe the disease spectrum.
Source: Journal of Cystic Fibrosis - Category: Respiratory Medicine Authors: Tags: Original Article Source Type: research
ine W Abstract Infertility is a disease characterized by the failure to establish a clinical pregnancy after 12 months of regular and unprotected sexual intercourse. It is estimated to affect between 8 and 12% of reproductive-aged couples worldwide. Males are found to be solely responsible for 20-30% of infertility cases but contribute to 50% of cases overall. Secondary infertility is the most common form of female infertility around the globe, often due to reproductive tract infections. The three major factors influencing the spontaneous probability of conception are the time of unwanted non-conception, the age...
Source: Clinical Biochemistry - Category: Biochemistry Authors: Tags: Clin Biochem Source Type: research
CONCLUSIONS: We were unable to identify any eligible studies for inclusion in this review and hence it is not possible to draw any conclusions based on randomised controlled studies. However, we are aware of uncontrolled studies which support the efficacy of newborn screening for galactosaemia. There are a number of reviews and economic analyses of non-trial literature suggesting that screening is appropriate. PMID: 29274129 [PubMed - as supplied by publisher]
Source: Cochrane Database of Systematic Reviews - Category: General Medicine Authors: Tags: Cochrane Database Syst Rev Source Type: research
When Tina Gibson got married seven years ago, she knew it was unlikely that she would have children naturally. Her husband, 33-year-old Benjamin Gibson, had cystic fibrosis, a condition that can make men infertile, the couple told CNN. The East Tennessee couple decided they would eventually adopt a child instead — and that they would foster several children […]Related:FDA approves first gene therapy for an inherited diseaseThis model lost a leg because of an infection from tampons. Here’s what she wants you to know.Debate erupts within HHS about ‘words to avoid’ such as ‘...
Source: Washington Post: To Your Health - Category: Consumer Health News Source Type: news
Publication date: December 2017 Source:European Urology Supplements, Volume 16, Issue 13 Author(s): A. Gokce, D. Gul, F. Halis, H.I. Cimen
Source: European Urology Supplements - Category: Urology & Nephrology Source Type: research
Summary Congenital bilateral absence of the vas deferens (CBAVD) is found in 1% to 2% of males with infertility and is present in 6% of obstructive azoospermia cases. Nearly 95% of men with cystic fibrosis (CF, an autosomal recessive disorder) have CBAVD. There are genetic links between CBAVD and CF. Some mutations in the gene encoding cystic fibrosis transmembrane conductance regulator (CFTR) can lead to CBAVD as a monosymptomatic form of CF. With the use of assisted reproductive techniques (ART), especially testicular or epididymal sperm aspiration, intracytoplasmic sperm injection, and in vitro fertilization, it is...
Source: Andrology - Category: Urology & Nephrology Authors: Tags: Review Article Source Type: research
Publication date: Available online 26 November 2017 Source:Molecular Genetics and Metabolism Author(s): Laura Stocchi, Emiliano Giardina, Luigia Varriale, Annalisa Sechi, Andrea Vagnini, Gianni Parri, Massimo Valentini, Maria Capalbo Tangier disease is an autosomal recessive disorder caused by mutations in the ABCA1 gene and characterized by the accumulation of cholesteryl ester in various tissues and a near absence of high-density lipoprotein. The subject in this investigation was a 36-year-old Italian man with Tangier disease. He and his wife had come to the In Vitro Fertilization Unit, Pesaro Hospital (Azienda Ospedali...
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research
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