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For Component Brewing owner, Zebra Hop beer fundraiser for rare diseases is personal

Jonathan Kowalske tapped more than 20 breweries to brew the IPA and raise money for the rare disease community.

Milwaukee , Wisconsin , United-states , Ilwaukee , New-mexico , Chicago , Illinois , Albuquerque , Eagle-park , Americans , Department-of-education

Family of brain-dead child from Surat donates his liver to Mumbai boy

A 281-km interstate green corridor was set up to transport the liver from a private hospital in Surat to Nanavati Max Super Speciality Hospital in Mumbai.

Surat , Gujarat , India , Mumbai , Maharashtra , Representational-image , Nanavati-max-super-speciality-hospital , Gujarat-toddler-donated-liver , Are-genetic-disorder , Rgan-donation , Reen-corridor

Community comes together to help 11-year-old boy with rare genetic disorder

A Pewaukee bar hosted a fundraiser Sunday afternoon to raise money for an Oconomowoc child with a rare genetic disease.

Emily-pofahl , Dan-brezgel , Deborah-brezgel , Calvin-brezgel , Waterfront-sports-bar , 11-year-old-boy , Rezgel-family , Alvin , Conomowoc , Undraiser , Are-genetic-disorder

What Is Neurofibromatosis? Check Causes, Symptoms And Treatment

Neurofibromatosis Type 1 (NF1), also referred to as von Recklinghausen disease, is a rare genetic disorder primarily impacting the nervous system. Among the six identified types of NF, NF1 and NF2 are the most common. In the United States, approximately 1 in 3,500 individuals have NF1, while 1 in 2,500 people have NF2. 

United-states , Neurofibromatosis-type , Developmental-difficulties , Neurofibromatosis , Eurofibromatosis-type-1 , Are-genetic-disorder , Neurofibromatosis-type-1 , Eurofibromatosis ,

Biogen to buy rare disease drugmaker for $7.3B

Biogen has agreed to pay $7.3B to acquire Reata Pharmaceuticals, maker of a new treatment for a rare genetic disorder.

Michael-vounatsos , Chris-vehbacher , Reata-pharmaceuticals , Wall-street-journal , Biogen , Eata-pharmaceuticals , Cquisition , Reatment , Are-genetic-disorder , Obs , Eo , Hris-vehbacher

McCandless baby gets matched with bone marrow donor

Clementine is one of a total of 10 children and the first girl diagnosed with a rare genetic mutation to her TLR8 gene, which can lead to bone marrow failure.

Tanner-blackham , Clementine-blackham , Lily-coleman , Tim-blackham , Perfect-match , Action-news , Blackham-family , Tlr8 , Llegheny-county , Aby-clementine , Aby-gets-donor

Von Hippel-Lindau Disease | Rare Genetic Disorder - Causes, Symptoms, Diagnosis, Treatment and Prognosis

Von Hippel-Lindau Disease (VHL) or Von Hippel-Lindau Syndrome is a rare genetic disorder caused by a mutation in the VHL gene. It is characterized by the development of benign tumors and cysts in multiple organs.

Sweden , Chicago , Illinois , United-states , Germany , Swedish , German , Arvid-vilhelm-lindau , Kaushik-bharati , National-organization-for-rare-disorders , Rare-diseases-information-center , National-institutes-of-health

Friends of Oliver: SoCal toddler with rare genetic disorder, DBA, inspires resiliency, research and hope

Parents of Oliver Nulsen, a toddler with Diamond-Blackfan anemia or DBA, are raising money for research in hopes of finding a breakthrough.

United-states , Americans , America , Ben-nulsen , Lauren-beck , Oliver-nulsen , North-america , Friends-of-oliver , Hildrens-health , Iamond-blackfan-anemia , Esearch

Despite help from Centre, patients with rare diseases, kin continue to suffer

Rare diseases are lifelong conditions. Approximately 95 per cent of them have no approved treatment. In cases where drugs are available, they are prohibitively exorbitant. Fakir, who earns less than Rs 10,000 per month, says his son's treatment costs Rs 30 lakh per annum.

Mumbai , Maharashtra , India , Ahmedabad , Gujarat , Dipak-annarao-deshpande , Akash-shukla , Nana-deshpande , Maharshtra-jalna , Ahmednagar-khandarmal , Keyush-joshi , Yogesh-kajabe

Kids with Rare Genetic Disorders More Likely to Suffer Other Mental Health Problems

Are genetic disorders linked to developmental, behavioral and mental health problems? Routine genomic testing may hold the answer.

Attention-deficit-hyperactivity-disorder , Genetic-disorders , Ental-health-problems , Utism , Ttention-deficit-hyperactivity-disorder , Dhd , Are-genetic-disorder , Ppositional-defiant-disorder , Nxiety-disorder , Enomic-testing , Isturbed-sleep