Rare diseases || Updates on Specific Diseases

Main|Search|PHGKB

From Genomics & Health Impact Scan Database

This database includes published scientific literature on evidence-based translation of genomic discoveries into improved health care and disease prevention that have a potential impact on population health.

---

• Next generation sequencing: Coping with rare genetic diseases in China.  
  Cram David S et al. Intractable & rare diseases research 2016 Aug 5(3) 140-4
• Privacy: The myth of anonymity.  
  Savage Neil et al. Nature 2016 537(7619) S70-2
• The risk of re-identification versus the need to identify individuals in rare disease research.  
  Hansson Mats G et al. European journal of human genetics : EJHG 2016 May
• New consent requirements for newborn screening raise concerns.  
  Yan Wudan et al. Nat. Med. 2015 Jun 4. 21(6) 542-3
• Ethics, genetics and public policies in Uruguay: newborn and infant screening as a paradigm.  
  Larrandaburu Mariela et al. J Community Genet 2015 May 29.

more